1. {{Abstracts of the European Academy of Childhood Disability 25th Annual Meeting. October 1-12, 2013. Newcastle-Gateshead, United Kingdom}}. {Dev Med Child Neurol};2013 (Oct);55 Suppl 2:1-66.
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2. Abu-Dahab SM, Skidmore ER, Holm MB, Rogers JC, Minshew NJ. {{Motor and tactile-perceptual skill differences between individuals with high-functioning autism and typically developing individuals ages 5-21}}. {J Autism Dev Disord};2013 (Oct);43(10):2241-2248.
We examined motor and tactile-perceptual skills in individuals with high-functioning autism (IHFA) and matched typically developing individuals (TDI) ages 5-21 years. Grip strength, motor speed and coordination were impaired in IHFA compared to matched TDI, and the differences between groups varied with age. Although tactile-perceptual skills of IHFA were impaired compared to TDI on several measures, impairments were significant only for stereognosis. Motor and tactile-perceptual skills should be assessed in children with IHFA and intervention should begin early because these skills are essential to school performance. Impairments in coordination and stereognosis suggest a broad though selective under-development of the circuitry for higher order abilities regardless of domain that is important in the search for the underlying disturbances in neurological development.
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3. Alaerts K, Woolley DG, Steyaert J, Di Martino A, Swinnen SP, Wenderoth N. {{Underconnectivity of the Superior Temporal Sulcus predicts Emotion recognition deficits in Autism}}. {Soc Cogn Affect Neurosci};2013 (Sep 26)
Neurodevelopmental disconnections have been assumed to cause behavioral alterations in autism spectrum disorders (ASD). Here, we combined measurements of intrinsic functional connectivity (iFC) from resting-state fMRI with task-based fMRI to explore whether altered activity and/or iFC of the right posterior superior temporal sulcus (pSTS) mediates deficits in emotion recognition in ASD. Fifteen adults with ASD and fifteen matched-controls underwent resting-state and task-based fMRI, during which participants discriminated emotional states from point light displays (PLDs). Intrinsic FC of the right pSTS was further examined using 584 (278 ASD/306 controls) resting-state data of the Autism Brain Imaging Data Exchange (ABIDE).Participants with ASD were less accurate than controls in recognizing emotional states from PLDs. Analyses revealed pronounced ASD-related reductions both in task-based activity and resting-state iFC of the right pSTS with fronto-parietal areas typically encompassing the action observation network. Notably, pSTS-hypo-activity was related to pSTS-hypo-connectivity and both measures were predictive of emotion recognition performance with each measure explaining a unique part of the variance. Analyses with the large independent ABIDE-dataset replicated reductions in pSTS-iFC to fronto-parietal regions.These findings provide novel evidence that pSTS hypo-activity and hypo-connectivity with the fronto-parietal action observation network are linked to the social deficits characteristic of ASD.
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4. Azad G, Blacher J, Marcoulides GA. {{Mothers of children with developmental disabilities: Stress in early and middle childhood}}. {Res Dev Disabil};2013 (Oct);34(10):3449-3459.
Using a sample of 219 families of children with (n=94) and without (n=125) developmental disabilities, this study examined the longitudinal perspectives of maternal stress in early (ages 3-5) and middle childhood (ages 6-13) and its relationship to mothers’ and children’s characteristics. Multivariate latent curve models indicated that maternal stress remained high and stable with minimal individual variation in early childhood, but declined with significant individual variation in middle childhood. Maternal stress at the beginning of middle childhood was associated with earlier maternal stress, as well as children’s behavioral problems and social skills. The trajectory of maternal stress across middle childhood was related to children’s behavioral problems. Implications for interventions are discussed.
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5. Barnea-Goraly N, Frazier TW, Piacenza L, Minshew NJ, Keshavan MS, Reiss AL, Hardan AY. {{A preliminary longitudinal volumetric MRI study of amygdala and hippocampal volumes in autism}}. {Prog Neuropsychopharmacol Biol Psychiatry};2013 (Sep 25)
BACKGROUND: Previous studies suggest that amygdala volume, when compared with healthy controls, is increased in young children with autism, is unchanged in cohorts of older youth, and is smaller in adults. Hippocampal volume, however, does not appear to have age-related changes, and it is unclear whether individuals with autism have volumetric differences in this structure. The goal of this pilot investigation is to characterize the developmental trajectories of the amygdala and hippocampus in children with autism between the ages of 8 and 14years and to examine clinical correlates of volume change. METHODS: Twenty-three children with autism and 23 controls between the ages of 8 and 12 underwent a magnetic resonance imaging procedure of the brain (T1-weighted) at two time points. Nine children with autism and 14 controls had good quality scans from both time points; however, all usable scans from all subjects (15 children with autism and 22 controls) were included in a mixed effect analysis. Regression models were used to estimate group differences in amygdala and hippocampal volumes. Changes in amygdala and hippocampal volumes (Time 2-Time 1) were correlated with clinical severity measures. RESULTS: Amygdala volume changes with time were similar between the two groups. Within the autism group, right amygdala volume change was correlated with the ability to establish appropriate eye contact. Right hippocampal volume was significantly increased in the autism group when compared with controls. Differences in right hippocampal volume change with time between the two groups approached significance. CONCLUSION: This study provides preliminary evidence of normalization of amygdala volumes in late childhood and adolescence. It also suggests that hippocampal volumetric differences may exist in autism in late childhood and adolescence.
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6. Bartl-Pokorny KD, Marschik PB, Sigafoos J, Tager-Flusberg H, Kaufmann WE, Grossmann T, Einspieler C. {{Early socio-communicative forms and functions in typical Rett syndrome}}. {Res Dev Disabil};2013 (Oct);34(10):3133-3138.
Rett syndrome (RTT) is a severe neurological disorder characterized by a developmental regression in motor and speech-language domains. There is, however, limited research on socio-communicative development of affected children before the onset of regression. We analyzed audio-video recordings made by parents of six 9- to 12-month old girls later diagnosed with typical RTT, applying the Inventory of Potential Communicative Acts (IPCA) to identify early communicative forms and functions. Each girl used at least one communicative form (e.g., body movement, eye gaze, or vocalizations) to gain attention and answer, but none were observed to make choices or request information. Varying numbers of children were observed to perform other communicative functions according to the IPCA including social convention, rejecting or requesting an object. Non-verbal forms (e.g., reaching, moving closer, eye contact, smiling) were more common than non-linguistic verbal forms (e.g., unspecified vocalizations, pleasure vocalizations, crying). (Pre-)linguistic verbal forms (e.g., canonical or variegated babbling, proto-words) were not used for communicative purposes. These data suggest that atypical developmental patterns in the socio-communicative domain are evident prior to regression in young individuals later diagnosed with RTT.
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7. Bas VN, Cetinkaya S, Agladioglu SY, Aksoy A, Gulpinar B, Aycan Z. {{Report of the first case of precocious puberty in Rett syndrome}}. {J Pediatr Endocrinol Metab};2013 (Oct 1);26(9-10):937-939.
Abstract Rett syndrome is an X-linked dominant disorder frequently caused by the mutations in the methyl-CpG-binding protein 2 gene (MECP2). Its prevalence in the population is 1/15,000-20,000. Patients with Rett syndrome present apparently normal psychomotor developments during the first 6-18 months of life. Subsequently, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. Precocious puberty is characterized by premature breast and pubic hair development, and advanced bone age development at 8 years of age. We present a case of Rett syndrome and precocious puberty in a 6-year-old girl. At the age of 6, the first signs of precocious puberty appeared (Tanner stage 3). Laboratory measurements were detected as follows: luteinizing hormone (LH), 0.2 mIU/mL; follicle-stimulating hormone (FSH), 1.1 mIU/mL; estradiol, 36 pg/mL; bone age, 9 years. The response to luteinizing hormone releasing hormone (gonadotropin-releasing hormone stimulation test) was characteristic for true precocious puberty (LH, 32 mIU/mL; FSH, 26 mIU/mL). This is the first reported case of precocious puberty related to Rett syndrome.
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8. Bauset SM, Zazpe I, Sanchis AM, Gonzalez AL, Suarez-Varela MM. {{Are there anthropometric differences between autistic and healthy children?}}. {J Child Neurol};2013 (Oct);28(10):1226-1232.
Anthropometric development and growth were assessed in 2 groups of 6- to 9-year-olds: children with autism spectrum disorders and typically developing children. In a case-control study conducted in Valencia, Spain, we compared the body mass index (kg/m(2)) of 40 children with autism spectrum disorders (cases) and 113 typically developing children (controls) from the same area of residence. The sex- and age-adjusted odds ratios for being underweight in cases was 2.41 compared to controls. Furthermore, the body mass index distribution of the cases was significantly offset to lower values with respect to that of the controls (P = .024). In particular, 20% of the cases had a body mass index below the fifth percentile versus just 8.85% of the controls. Our data suggest that the anthropometric development of children with autism spectrum disorders should be monitored as part of routine care.
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9. Beighley JS, Matson JL, Rieske RD, Adams HL. {{Food selectivity in children with and without an autism spectrum disorder: Investigation of diagnosis and age}}. {Res Dev Disabil};2013 (Oct);34(10):3497-3503.
Feeding problems are common in children with autism spectrum disorders (ASDs), with food selectivity being the most frequently reported. Selectivity based on type and/or texture of food is of concern in those with ASD. Variations in symptom presentation of food selectivity in children with different autism spectrum diagnoses across childhood have not often been investigated. Parent-report of food selectivity was examined in 525 children age 2-18 years diagnosed with autistic disorder, PDD-NOS, Asperger’s disorder, atypical development, and typical development using information garnered from the Autism Spectrum Disorder-Comorbidity for Children (ASD-CC), a tool to assess emotional issues and comorbid psychopathology. Individuals with an ASD were reported to have significantly more food selectivity than both the atypically developing group and the typically developing group. In addition, the ASD groups, when looked at together, showed a decrease in food selectivity across childhood with significant decrease in the Asperger’s disorder group.
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10. Ben-David E, Shifman S. {{Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism}}. {Mol Psychiatry};2013 (Oct);18(10):1054-1056.
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11. Bhatara A, Babikian T, Laugeson E, Tachdjian R, Sininger YS. {{Impaired Timing and Frequency Discrimination in High-functioning Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Oct);43(10):2312-2328.
Individuals with autism spectrum disorders (ASD) frequently demonstrate preserved or enhanced frequency perception but impaired timing perception. The present study investigated the processing of spectral and temporal information in 12 adolescents with ASD and 15 age-matched controls. Participants completed two psychoacoustic tasks: one determined frequency difference limens, and the other determined gap detection thresholds. Results showed impaired frequency discrimination at the highest standard frequency in the ASD group but no overall difference between groups. However, when groups were defined by auditory hyper-sensitivity, a group difference arose. For the gap detection task, the ASD group demonstrated elevated thresholds. This supports previous research demonstrating a deficit in ASD in temporal perception and suggests a connection between hyper-sensitivity and frequency discrimination abilities.
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12. Bilaver LA, Jordan N. {{Impact of State Mental Health Parity Laws on Access to Autism Services}}. {Psychiatr Serv};2013 (Oct 1);64(10):967-973.
OBJECTIVES This study examined the effect of state mental health parity laws on family financial burden, satisfaction with health insurance, and receipt of needed mental health services for privately insured children ages three to 17 with autism spectrum disorder (ASD). METHODS Data came from the 2005-2006 wave of the National Survey of Children With Special Health Care Needs. An econometric approach with instrumental variables was used to control for the nonrandom selection of states according to their mental health parity laws. The study analyzed data for 949 youths with ASD and private health insurance. Six outcome variables were examined, including several measures of family financial burden, satisfaction with health insurance, and receipt of needed mental health services. RESULTS Families of children needing mental health services and living in a state with a strict parity law had a 61% higher probability of reporting out-of-pocket spending >$1,000 compared with those not living in a strict parity state. Compared with families of children living in a strict parity state that did not specify ASD, those living in a strict parity state that specified ASD had a 92% higher probability of reporting unreasonable out-of-pocket spending. All other results were statistically insignificant. CONCLUSIONS In contrast with previous research, this study did not find strong evidence that state mental health parity laws positively affected service access for children with ASD. Future research on the effect of autism insurance reform will provide a more precise test of the impact of insurance mandates on improving access to treatment services for children with ASD.
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13. Castro S, Ferreira T, Dababnah S, Pinto AI. {{Linking autism measures with the ICF-CY: Functionality beyond the borders of diagnosis and interrater agreement issues}}. {Dev Neurorehabil};2013 (Oct);16(5):321-331.
Purpose: This study aims to: (1) link measurements used in the diagnosis of children with autism spectrum disorders (ASDs) with the International Classification of Functioning, Disability and Health – Children and Youth Version (ICF-CY) and (2) analyse issues relating with interrater agreement within this process. Method: Three instruments for ASD diagnosis were linked with the ICF-CY using deductive content analysis. Results: Correspondences between items’ content and ICF-CY dimensions were identified for all ICF-CY components, except for environmental factors. Interrater agreement varied with the content of the units analyzed. Conclusion: The linkage between the ICF-CY and the analyzed measures provides a way to document assessment-intervention outcomes using a common language, as well as to integrate diagnostic and functional data. Diagnostic measurements provide functional information beyond the diagnostic criteria defined for autism. A functional perspective is added to diagnostic outcomes, thus better informing educational and rehabilitation practices for children with ASD.
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14. Chang KT, Ro H, Wang W, Min KT. {{Meeting at the crossroads: common mechanisms in Fragile X and Down syndrome}}. {Trends Neurosci};2013 (Sep 25)
Intellectual disability is characterized by significantly impaired cognitive abilities and is due to various etiological factors, including both genetic and non-genetic causes. Two of the most common genetic forms of intellectual disability are Fragile X syndrome (FXS) and Down syndrome (DS). Recent studies have shown that proteins altered in FXS and DS can physically interact and participate in common signaling pathways regulating dendritic spine development and local protein synthesis, thus supporting the notion that spine dysmorphogenesis and abnormal local protein synthesis may be molecular underpinnings of intellectual disability. Here we review the molecular constituents regulating local protein synthesis and spine morphology and their alterations in FXS and DS. We argue that these changes might ultimately affect synaptic homeostasis and alter cognitive performance.
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15. Chouinard PA, Noulty WA, Sperandio I, Landry O. {{Global processing during the Muller-Lyer illusion is distinctively affected by the degree of autistic traits in the typical population}}. {Exp Brain Res};2013 (Oct);230(2):219-231.
Earlier work examining susceptibility to visual illusions in autism has reported discrepant findings. Some of this research suggests that global processing is affected in autism while some of this research suggests otherwise. The discrepancies may relate to compliance issues and differences in population samples in terms of symptom severity, cognitive ability, and co-morbid disorders. Equally important, most of this work tended to treat global processing as if it were a singular construct, invoking similar cognitive operations across different visual illusions. We argue that this is not a fair assumption to make given the extensive research that has classified visual illusions on the basis of their cognitive demands. With this in mind, and to overcome the many caveats associated with examining a heterogeneous disorder such as autism directly, we examined how susceptibility to various illusions relates differently to people’s scores on the Autism Spectrum Quotient (AQ) questionnaire. We found that susceptibility to the Muller-Lyer but not to the Ebbinghaus and Ponzo illusions decreased as a function of AQ and that the relationship between AQ and susceptibility to the Muller-Lyer illusion was different from those between AQ and susceptibility to the Ebbinghaus and Ponzo illusions. Our findings confirm that the cognitive operations underlying global processing in the Muller-Lyer illusion are different from the other illusions and, more importantly, reveal that they might be affected in autism. Future brain mapping studies could provide additional insight into the neural underpinnings of how global processing might and might not be affected in autism.
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16. Cochran DM, Dvir Y, Frazier JA. {{« Autism-plus » Spectrum Disorders: Intersection with Psychosis and the Schizophrenia Spectrum}}. {Child Adolesc Psychiatr Clin N Am};2013 (Oct);22(4):609-627.
Patients are often encountered clinically who have autism spectrum disorders (ASD) and also have symptoms suggestive of a comorbid psychotic disorder. A careful assessment for the presence of comorbid disorders is important. However, the core deficits seen in ASD, in social reciprocity, communication, and restricted behaviors and interests, can be mistaken for psychosis. Also, there is a subset of patients who present with a complex neurodevelopmental disorder with impairments that cross diagnostic categories. This article reviews the connections between ASD and psychosis, and highlights the key points to consider in patients who present with these « autism-plus » disorders.
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17. Colic S, Wither RG, Zhang L, Eubanks JH, Bardakjian BL. {{Characterization of seizure-like events recorded in vivo in a mouse model of Rett syndrome}}. {Neural Netw};2013 (Oct);46:109-115.
Rett syndrome is a neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2). Spontaneous recurrent discharge episodes are displayed in Rett-related seizures as in other types of epilepsies. The aim of this paper is to investigate the seizure-like event (SLE) and inter-SLE states in a female MeCP2-deficient mouse model of Rett syndrome and compare them to those found in other spontaneous recurrent epilepsy models. The study was performed on a small population of female MeCP2-deficient mice using telemetric local field potential (LFP) recordings over a 24 h period. Durations of SLEs and inter-SLEs were extracted using a rule-based automated SLE detection system for both daytime and nighttime, as well as high and low power levels of the delta frequency range (0.5-4 Hz) of the recorded LFPs. The results suggest SLE occurrences are not influenced by circadian rhythms, but had a significantly greater association with delta power. Investigating inter-SLE and SLE states by fitting duration histograms to the gamma distribution showed that SLE initiation and termination were associated with random and deterministic mechanisms, respectively. These findings when compared to reported studies on epilepsy suggest that Rett-related seizures share many similarities with absence epilepsy.
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18. Corman MK. {{How Mothers Talk About Placement of Their Child With Autism Outside the Home}}. {Qual Health Res};2013 (Oct);23(10):1320-1332.
In this article I use insights offered by the poststructural shift and linguistic turn in social scientific inquiry, specifically discourse analysis, to explore mothers’ talk about the placement of their child with autism outside of the home. By viewing mothers’ talk as data, I bring to light the discourses and interpretive practices that mothers drew on to organize their talk of placement. In doing so, I provide insights into how mothers gave meaning to processes of placement while also expanding on commonsensical discursive notions of « good » mothering, caregiving, and family. Implications of the findings are discussed.
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19. Das UN. {{Autism as a disorder of deficiency of brain-derived neurotrophic factor and altered metabolism of polyunsaturated fatty acids}}. {Nutrition};2013 (Oct);29(10):1175-1185.
Autism has a strong genetic and environmental basis in which inflammatory markers and factors concerned with synapse formation, nerve transmission, and information processing such as brain-derived neurotrophic factor (BDNF), polyunsaturated fatty acids (PUFAs): arachidonic (AA), eicosapentaenoic (EPA), and docosahexaenoic acids (DHA) and their products and neurotransmitters: dopamine, serotonin, acetylcholine, gamma-aminobutyric acid, and catecholamines and cytokines are altered. Antioxidants, vitamins, minerals, and trace elements are needed for the normal metabolism of neurotrophic factors, eicosanoids, and neurotransmitters, supporting reports of their alterations in autism. But, the exact relationship among these factors and their interaction with genes and proteins concerned with brain development and growth is not clear. It is suggested that maternal infections and inflammation and adverse events during intrauterine growth of the fetus could lead to alterations in the gene expression profile and proteomics that results in dysfunction of the neuronal function and neurotransmitters, alteration(s) in the metabolism of PUFAs and their metabolites resulting in excess production of proinflammatory eicosanoids and cytokines and a deficiency of anti-inflammatory cytokines and bioactive lipids that ultimately results in the development of autism. Based on these evidences, it is proposed that selective delivery of BDNF and methods designed to augment the production of anti-inflammatory cytokines and eicosanoids and PUFAs may prevent, arrest, or reverse the autism disease process.
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20. de Bildt A, Oosterling IJ, van Lang ND, Kuijper S, Dekker V, Sytema S, Oerlemans AM, van Steijn DJ, Visser JC, Rommelse NN, Minderaa RB, van Engeland H, van der Gaag RJ, Buitelaar JK, de Jonge MV. {{How to Use the ADI-R for Classifying Autism Spectrum Disorders? Psychometric Properties of Criteria from the Literature in 1,204 Dutch Children}}. {J Autism Dev Disord};2013 (Oct);43(10):2280-2294.
The algorithm of the Autism Diagnostic Interview-Revised provides criteria for autism versus non-autism according to DSM-IV. Criteria for the broader autism spectrum disorders are needed. This study investigated the validity of seven sets of criteria from the literature, in 1,204 Dutch children (aged 3-18 years) with and without mental retardation. The original criteria (Rutter et al. in ADI-R Autism Diagnostic Interview Revised. Manual. Western Psychological Services, Los Angeles, 2003) well discriminated ASD from non-ASD in MR. All other criteria (IMGSAC in Am Soc Hum Genet 69:570-581 2001; Sung et al. in Am J Hum Genet 76: 68-81, 2005; Risi et al. in J Am Acad Child Adolesc Psychiatry 45: 1094-1103, 2006) were sensitive at the cost of specificity, bearing the risk of overinclusiveness. In the group without MR, clinicians should decide whether sensitivity or specificity is aimed for, to choose the appropriate criteria. Including the Autism Diagnostic Observation Schedule revised algorithms in the classification, the specificity increases, at the cost of sensitivity. This study adds to a more valid judgment on which criteria to use for specific objectives.
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21. de Rezende Pinto WB, Pedroso JL, de Souza PV, Oliveira AS, Barsottini OG. {{Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?}}. {J Neurol};2013 (Sep 29)
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22. Deconinck N, Soncarrieu M, Dan B. {{Toward better recognition of early predictors for autism spectrum disorders}}. {Pediatr Neurol};2013 (Oct);49(4):225-231.
BACKGROUND: Identification and diagnosis of autism spectrum disorders is essentially based on behavioral presentation and developmental history. The current average age at diagnosis is older than 3 years. METHODS: Over the past 15 years, there has been increasing documentation of the early signs of autism spectrum disorders through both individual retrospective parental reports and screening studies. Recent longitudinal studies have focused on early medical and behavioral features of children regarded at risk, namely younger siblings of children with autism spectrum disorders or children who required neonatal intensive care, with a later diagnosis of autism spectrum disorders. RESULTS: Potentially useful early neurological signs and developmental predictors for autism spectrum disorders could be identified, with a typical profile that evolved with age. CONCLUSIONS: Assessment of early social attention and communication skills with adapted scales in children before the age of 18 months in very large community-based settings may lead to high positive predictive values.
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23. Dosman C, Adams D, Wudel B, Vogels L, Turner J, Vohra S. {{Complementary, Holistic, and Integrative Medicine: Autism Spectrum Disorder and Gluten- and Casein-Free Diet}}. {Pediatr Rev};2013 (Oct);34(10):e36-e41.
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24. Duff CK, Flattery JJ, Jr. {{Developing Mirror Self Awareness in Students with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Sep 29)
A teaching methodology and curriculum was designed to develop and increase positive self-awareness in students diagnosed with autism spectrum disorders (ASD). Joint attention (JA) strategies were first utilized to directly teach students about reflected mirror images, and then subsequently, to indirectly teach students about their reflected image. Not only were Mirror Self Awareness Development (MSAD) JA activities initiated and preferred by students over non MSAD JA activities, they yielded a four step framework with which to measure increases in student self-awareness. While the focus of this study was to increase positive self-awareness in students with ASD, it may contribute to understanding the developmental stages of ‘Self’.
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25. Duffield TC, Trontel HG, Bigler ED, Froehlich A, Prigge MB, Travers B, Green RR, Cariello AN, Cooperrider J, Nielsen J, Alexander A, Anderson J, Fletcher PT, Lange N, Zielinski B, Lainhart J. {{Neuropsychological investigation of motor impairments in autism}}. {J Clin Exp Neuropsychol};2013 (Oct);35(8):867-881.
It is unclear how standardized neuropsychological measures of motor function relate to brain volumes of motor regions in autism spectrum disorder (ASD). An all-male sample composed of 59 ASD and 30 controls (ages 5-33 years) completed three measures of motor function: strength of grip (SOG), finger tapping test (FTT), and grooved pegboard test (GPT). Likewise, all participants underwent magnetic resonance imaging with region of interest (ROI) volumes obtained to include the following regions: motor cortex (precentral gyrus), somatosensory cortex (postcentral gyrus), thalamus, basal ganglia, cerebellum, and caudal middle frontal gyrus. These traditional neuropsychological measures of motor function are assumed to differ in motor complexity, with GPT requiring the most followed by FTT and SOG. Performance by ASD participants on the GPT and FTT differed significantly from that of controls, with the largest effect size differences observed on the more complex GPT task. Differences on the SOG task between the two groups were nonsignificant. Since more complex motor tasks tap more complex networks, poorer GPT performance by those with ASD may reflect less efficient motor networks. There was no gross pathology observed in classic motor areas of the brain in ASD, as ROI volumes did not differ, but FTT was negatively related to motor cortex volume in ASD. The results suggest a hierarchical motor disruption in ASD, with difficulties evident only in more complex tasks as well as a potential anomalous size-function relation in motor cortex in ASD.
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26. Dykens EM, Lambert W. {{Trajectories of diurnal cortisol in mothers of children with autism and other developmental disabilities: relations to health and mental health}}. {J Autism Dev Disord};2013 (Oct);43(10):2426-2434.
This study used a stress biomarker, diurnal cortisol, to identify how elevated stress in mothers of children and adults with autism and other disabilities relates to their health and mental health. Based on semi-parametric, group-based trajectory analysis of 91 mothers, two distinctive cortisol trajectories emerged: blunted (63 %) or steep (37 %). Mothers in the blunted (vs. steep) trajectory had higher stress levels, lower health ratings, and 89 % of mothers of children with autism, and 53 % with other disabilities, belonged to this trajectory. Atypical cortisol awakening responses and evening rises were differentially associated with anxiety, depression, health problems and employment status. Stress-reducing interventions are needed for parents of children with autism and other disabilities that include biomarkers as indices of risk or treatment outcome.
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27. Ecker C, Spooren W, Murphy D. {{Developing new pharmacotherapies for autism}}. {J Intern Med};2013 (Oct);274(4):308-320.
Developing new pharmacotherapies for autism spectrum disorder (ASD) is a challenge. ASD has a complex genetic architecture, several neurobiological phenotypes and multiple symptom domains. However, new opportunities are emerging that could lead to the development of ‘targeted’ and individualized pharmacological interventions. Here, first we review these important new insights into the aetiology and neurobiology of ASD with particular focus on (i) genetic variants mediating synaptic structure and functioning and (ii) differences in brain anatomy, chemistry and connectivity in this condition. The characterization of the genotypic and phenotypic differences underlying ASD might in the future be invaluable for stratifying the large range of different individuals on the autism spectrum into genetically and/or biologically homogeneous subgroups that might respond to similar targeted interventions. Secondly, we propose a strategic framework for the development of targeted pharmacotherapies for ASD, which comprises several different stages in which research findings are translated into clinical applications. The establishment of animal models and cellular assays is important for developing and testing new pharmacological targets before initiating large-scale clinical trials. Finally, we present the European Autism Interventions – A Multicentre Study for Developing New Medications (EU-AIMS) Initiative, which was set up in the context of the EU Innovative Medicines Initiative as the first European platform for integrated translational research in ASD. The EU-AIMS Initiative consists of academic and industrial partners working in collaboration to deliver a more ‘personalized’ approach to diagnosing and treating ASD in the future.
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28. Eze N, Ofo E, Jiang D, O’Connor AF. {{Systematic review of cochlear implantation in children with developmental disability}}. {Otol Neurotol};2013 (Oct);34(8):1385-1393.
OBJECTIVE: To perform a systematic review comparing the xoutcome of cochlear implantation in children with developmental disability with children without developmental disability. DATA SOURCES: MEDLINE, EMBASE, andCochrane databases were searched from 1950 or the start date of each database. The search was performed on 1st November 2012, and included articles published ahead of print with no language restrictions. STUDY SELECTION: The initial search presented 441 articles of which 13 met the inclusion criteria. The articles studied children with cochlear implants and developmental disability where expressive and/or receptive language outcomes were compared with children with cochlear implants and normal development. DATA EXTRACTION: Study quality assessment included whether ethical approval was gained, prospective design, eligibility criteria specified, appropriate controls used, adequate follow-up achieved, and defined outcome measures. Cochlear implant outcome analysis included expressive/receptive speech and language development in addition to quality of life and behavior. DATA SYNTHESIS: Because of heterogeneity in postoperative follow-up periods and outcome measures reported, it was not possible to pool the data and perform meta-analysis. Comparisons were made by structured review. CONCLUSION: Seven studies demonstrated a worse outcome for children with developmental disability. Six articles showed no difference in the outcome between the 2 groups. Children with developmental disability may not benefit from cochlear implantation based on traditional assessment tools but appear to improve their environmental awareness and quality of life. More work is needed to define the term benefit when used in this context for this vulnerable group. Autistic children consistently had a negative outcome.
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29. Fatemi SH. {{Cerebellum and autism}}. {Cerebellum};2013 (Oct);12(5):778-779.
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30. Ference J, Curtin S. {{Attention to lexical stress and early vocabulary growth in 5-month-olds at risk for autism spectrum disorder}}. {J Exp Child Psychol};2013 (Sep 26);116(4):891-903.
Typically developing infants differentiate strong-weak (trochaic) and weak-strong (iambic) stress patterns by 2months of age. The ability to discriminate rhythmical patterns, such as lexical stress, has been argued to facilitate language development, suggesting that a difficulty in discriminating stress might affect early word learning as reflected in vocabulary size. Children with autism spectrum disorder (ASD) often have difficulty in correctly producing lexical stress, yet little is known about how they perceive it. The current study tested 5-month-old infants with typically developing older siblings (SIBS-TD) and infants with an older sibling diagnosed with ASD (SIBS-A) on their ability to differentiate the trochaic and iambic stress patterns of the word form gaba. SIBS-TD infants showed an increased interest in attention to the trochaic stress pattern, which was also positively correlated with vocabulary comprehension at 12months of age. In contrast, SIBS-A infants attended equally to these stress patterns, although this was unrelated to later vocabulary size.
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31. Ferro MA, Boyle MH. {{Brief report: Testing measurement invariance and differences in self-concept between adolescents with and without physical illness or developmental disability}}. {J Adolesc};2013 (Oct);36(5):947-951.
The aim of this study was to test for measurement invariance and examine differences in global self-concept between adolescents with and without physical illness or developmental disability. The sample consisted of adolescents 10-19 years who participated in the Canadian National Longitudinal Survey of Children and Youth (N=8491). Multiple group confirmatory factor analysis was used to test for measurement invariance. Twenty-three percent (n=1966) of participants had a physical illness or developmental disability. Support was found for strict measurement invariance between groups suggesting adolescents in both groups perceived items similarly, indicating that comparisons between adolescents with and without physical illness or developmental disability are meaningful. Controlling for several sociodemographic characteristics, evidence suggested that self-concept is lower in adolescents with physical illness or developmental disability, beta=-0.24, p=0.0005, compared to their healthy peers. Future work should attempt to understand the processes leading to compromised self-concept in adolescents with physical illness or developmental disability.
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32. Fisch GS. {{Autism and epistemology IV: Does autism need a theory of mind?}}. {Am J Med Genet A};2013 (Oct);161(10):2464-2480.
In their article, « Does the autistic child have a ‘theory of mind’?, » Baron-Cohen et al. [1985] proposed a novel paradigm to explain social impairment in children diagnosed as autistic (AD). Much research has been undertaken since their article went to print. The purpose of this commentary is to gauge whether Theory of Mind (ToM)-or lack thereof-is a valid model for explaining abnormal social behavior in children with AD. ToM is defined as « the ability to impute mental states to oneself and to others » and « the ability to make inferences about what other people believe to be the case. » The source for their model was provided by an article published earlier by Premack and Woodruff, « Does the chimpanzee have a theory of mind? » Later research in chimpanzees did not support a ToM in primates. From the outset, ToM as a neurocognitive model of autism has had many shortcomings-methodological, logical, and empirical. Other ToM assumptions, for example, its universality in all children in all cultures and socioeconomic conditions, are not supported by data. The age at which a ToM emerges, or events that presage a ToM, are too often not corroborated. Recent studies of mirror neurons, their location and interconnections in brain, their relationship to social behavior and language, and the effect of lesions there on speech, language and social behavior, strongly suggests that a neurobiological as opposed to neurocognitive model of autism is a more parsimonious explanation for the social and behavioral phenotypes observed in autism. (c) 2013 Wiley Periodicals, Inc.
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33. Fulton ML, D’Entremont B. {{Utility of the psychoeducational profile-3 for assessing cognitive and language skills of children with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Oct);43(10):2460-2471.
The Psychoeducational Profile-3’s (PEP-3) ability to estimate cognitive and language skills of 136 children (20-75 months) with autism spectrum disorders (ASDs) across a range of functioning, and the association between the PEP-3 and ASD symptomatology was examined using retrospective data. PEP-3 cognitive and language measures were positively correlated with similar measures on the Child Development Inventory, the Merrill-Palmer Revised, and the Vineland Adaptive Behaviour Scale-2. The PEP-3 sometimes provided higher or lower estimates than other measures. Significant differences were found between diagnostic groups on PEP-3 cognitive and language measures. PEP-3 cognitive scores correlated positively with scores on the Autism Diagnostic Observation Schedule. Findings support the use of the PEP-3 to measure cognition and language in children with ASDs.
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34. Ganz JB, Heath AK, Davis JL, Vannest KJ. {{Effects of a self-monitoring device on socially relevant behaviors in adolescents with Asperger disorder: a pilot study}}. {Assist Technol};2013 (Fall);25(3):149-157.
This article reports the results of two case studies. Two middle school-aged participants with high-functioning autism spectrum disorders were taught to self-monitor behaviors impacting their social acceptance by peers in their general education settings: oral self-stimulatory behaviors and conversation skills. Results indicate that the intervention was effective to some degree with both participants. As a result of the self-monitoring intervention, one participant decreased self-stimulatory behaviors; however, his data were highly variable throughout the study though lower on average during intervention than in baseline. The other participant’s targeted skills in communication were only slightly improved. Self-monitoring using a vibrating reminder appears to be a low-cost intervention with high levels of social acceptability, low training requirements for teachers or students, and no social stigma.
35. Gardiner E, Iarocci G. {{Students with Autism Spectrum Disorder in the University Context: Peer Acceptance Predicts Intention to Volunteer}}. {J Autism Dev Disord};2013 (Sep 28)
With growing numbers of individuals with autism spectrum disorder (ASD) entering post-secondary institutions, strategies are needed to facilitate the social integration of these students. The goal of this study was to examine the role of various factors in university students’ acceptance of, and intention to volunteer with, a peer with ASD. Both contact quantity and quality emerged as significant predictors of acceptance; however, for those who had experienced direct contact with individuals with ASD, only perceived quality emerged as significant. Moreover, acceptance played a significant role in participants’ likelihood of signing up to volunteer. These findings point to the central role that positive experiences play in attitude formation for this population.
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36. Geier DA, Kern JK, Geier MR. {{A Comparison of the Autism Treatment Evaluation Checklist (ATEC) and the Childhood Autism Rating Scale (CARS) for the Quantitative Evaluation of Autism}}. {J Ment Health Res Intellect Disabil};2013 (Oct);6(4):255-267.
The purpose of this study was to evaluate scores generated from the Autism Treatment Evaluation Checklist (ATEC), a parent-rated measure, and those derived from professionally completed Childhood Autism Rating Scale (CARS) evaluations. A cohort of 56 participants diagnosed with an autism spectrum disorder was used for the study, and each child was evaluated independently by the parent using the ATEC and a health care professional using the CARS. The Spearman’s rank correlation statistic rho was used to evaluate the correlation between ATEC and CARS scores. It was observed that there was a significant correlation between total ATEC and CARS scores (rho = .71). Specific domains in the ATEC evaluation significantly correlated with CARS scores. Sensitivity, specificity, and receiver operating characteristic confirmed the association between CARS and ATEC domains. The results help to validate the utility of the parentally completed ATEC in comparison with an established, professional-related measure of autism.
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37. Ghaziuddin M, Al-Owain M. {{Autism spectrum disorders and inborn errors of metabolism: an update}}. {Pediatr Neurol};2013 (Oct);49(4):232-236.
BACKGROUND: Autism spectrum disorder is characterized by social communicative deficits with restricted interests occurring in about 1% of the population. Although its exact cause is not known, several factors have been implicated in its etiology, including inborn errors of metabolism. Although relatively uncommon, these disorders frequently occur in countries with high rates of consanguinity and are often associated with behavioral problems, such as hyperactivity and aggression. The aim of this review is to examine the association of autism with these conditions. METHOD: A computer-assisted search was performed to identify the most common inborn errors of metabolism associated with autism. RESULTS: The following disorders were identified: phenylketonuria, glucose-6-phosphatase deficiency, propionic acidemia, adenosine deaminase deficiency, Smith-Lemli-Opitz syndrome and mitochondrial disorders, and the recently described branched chain ketoacid dehydrogenase kinase deficiency. CONCLUSION: The risk of autistic features is increased in children with inborn errors of metabolism, especially in the presence of cognitive and behavioral deficits. We propose that affected children should be screened for autism.
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38. Ghosh A, Michalon A, Lindemann L, Fontoura P, Santarelli L. {{Drug discovery for autism spectrum disorder: challenges and opportunities}}. {Nat Rev Drug Discov};2013 (Oct 1);12(10):777-790.
The rising rates of autism spectrum disorder (ASD) and the lack of effective medications to treat its core symptoms have led to an increased sense of urgency to identify therapies for this group of neurodevelopmental conditions. Developing drugs for ASD, however, has been challenging because of a limited understanding of its pathophysiology, difficulties in modelling the disease in vitro and in vivo, the heterogeneity of symptoms, and the dearth of prior experience in clinical development. In the past few years these challenges have been mitigated by considerable advances in our understanding of forms of ASD caused by single-gene alterations, such as fragile X syndrome and tuberous sclerosis. In these cases we have gained insights into the pathophysiological mechanisms underlying these conditions. In addition, they have aided in the development of animal models and compounds with the potential for disease modification in clinical development. Moreover, genetic studies are illuminating the molecular pathophysiology of ASD, and new tools such as induced pluripotent stem cells offer novel possibilities for drug screening and disease diagnostics. Finally, large-scale collaborations between academia and industry are starting to address some of the key barriers to developing drugs for ASD. Here, we propose a conceptual framework for drug discovery in ASD encompassing target identification, drug profiling and considerations for clinical trials in this novel area.
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39. Gongidi P, Johnson C, Dinan D. {{Scurvy in an autistic child: MRI findings}}. {Pediatr Radiol};2013 (Oct);43(10):1396-1399.
Scurvy results from a deficiency of vitamin C and is rarely seen in the United States. We describe the MRI findings of a case of scurvy in an autistic child with food-avoidant behavior. Advanced imaging is rarely performed in clinically well-understood disease entities such as scurvy. Typical radiographic findings are well described leading to definitive diagnosis, although the findings can be missed or misinterpreted given the rarity of scurvy in daily practice. To our knowledge, MRI features of scurvy in children in the US have been described in only one case report. This case of scurvy in an autistic child with food-avoidant behavior emphasizes that classic nutritional deficiencies, despite their rarity, must be included in the differential diagnosis of at-risk populations.
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40. Gonzalez C, Martin JM, Minshew NJ, Behrmann M. {{Practice makes improvement: how adults with autism out-perform others in a naturalistic visual search task}}. {J Autism Dev Disord};2013 (Oct);43(10):2259-2268.
People with autism spectrum disorder (ASD) often exhibit superior performance in visual search compared to others. However, most studies demonstrating this advantage have employed simple, uncluttered images with fully visible targets. We compare the performance of high-functioning adults with ASD and matched controls on a naturalistic luggage screening task. Although the two groups were equally accurate in detecting targets, the ASD adults improve in their correct elimination of target-absent bags faster than controls. This feature of their behavior is extremely important for many real-world monitoring tasks that require sustained attention for long time periods. Further analyses suggest that this improvement is attributable neither to the motor speed nor to the level of intelligence of the adults with ASD. These findings may have possible implications for employment opportunities of adult individuals with ASD.
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41. Gregory BL, Plaisted-Grant KC. {{The Autism-Spectrum Quotient and Visual Search: Shallow and Deep Autistic Endophenotypes}}. {J Autism Dev Disord};2013 (Sep 28)
A high Autism-Spectrum Quotient (AQ) score (Baron-Cohen et al. in J Autism Dev Disord 31(1):5-17, 2001) is increasingly used as a proxy in empirical studies of perceptual mechanisms in autism. Several investigations have assessed perception in non-autistic people measured for AQ, claiming the same relationship exists between performance on perceptual tasks in high-AQ individuals as observed in autism. We question whether the similarity in performance by high-AQ individuals and autistics reflects the same underlying perceptual cause in the context of two visual search tasks administered to a large sample of typical individuals assessed for AQ. Our results indicate otherwise and that deploying the AQ as a proxy for autism introduces unsubstantiated assumptions about high-AQ individuals, the endophenotypes they express, and their relationship to Autistic Spectrum Conditions (ASC) individuals.
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42. Grossi D, Marcone R, Cinquegrana T, Gallucci M. {{On the differential nature of induced and incidental echolalia in autism}}. {J Intellect Disabil Res};2013 (Oct);57(10):903-912.
Background Echolalia is a verbal disorder, defined as ‘a meaningless repetition of the words of others’. It is pathological, automatic and non-intentional behaviour, often observed in a variety of neurological and psychiatric disorders and above all in autism. We assume that echolalia is an imitative behaviour that is due to difficulties in inhibiting automatic repetition as seen in patients with frontal lobe damage. Our aim is to study the occurrence of echolalia under experimental conditions to investigate the nature of the phenomenon and its relationship with the severity of autism. Methods Eighteen participants with autism from 17 to 36 years old were recruited; they were administrated the Vineland scale, the Observational Rating Scale of Basic Functions and the Echolalia Questionnaire. In the Echolalia Questionnaire, questions were directly addressed to the autistic subject (induced procedure) or to the subject’s caregiver while the subject was free to do what he wanted (incidental procedure). The data were analysed by multivariate regressions and Pearson’s correlations. Results The results showed that echolalia occurred in both experimental situations; the mean value was significantly higher in the induced procedure, but results did not support the correlation with Vineland’s score in the incidental procedure. It is likely that the two situations activated different processes. In particular, echolalia was statistically higher in the induced procedure as compared with the incidental one only for subjects with low score on Vineland, but in the incidental procedure, the presence of echolalia appeared to be uninfluenced by the functional capacity of subjects. Conclusions The two experimental conditions require different monitoring systems to control this verbal behaviour. The echolalic phenomenon is an expression of dependence on the environment and may occur in a situation in which the autistic person is participating in a communicative act and, lacking inhibitory control, repeats the other’s communication rather than selecting an answer. The deficit in inhibitory control in this situation does not seem to be present in subjects with higher efficiency. Incidental echolalia reflects the inability of the subject to filter out background environmental noise, which occasionally results in environmental dependency.
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43. Grossman M, Peskin J, San Juan V. {{Thinking About a Reader’s Mind: Fostering Communicative Clarity in the Compositions of Youth with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Oct);43(10):2376-2392.
A critical component of effective communication is the ability to consider the knowledge state of one’s audience, yet individuals with autism spectrum disorders (ASD) have difficulty representing the mental states of others. In the present study, youth with high-functioning ASD were trained to consider their reader’s knowledge states in their compositions using a novel computer-based task. After two training trials, participants who received visual feedback from a confederate demonstrated significantly greater communicative clarity on the training measure compared to a control group. The improvements from training transferred to similar and very different tasks, and were maintained approximately 6 weeks post-intervention. These results provide support for the sustained efficacy of a rapid and motivating communication intervention for youth with high-functioning ASD.
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44. Gwynette MF. {{Heterogeneity in Autism Spectrum Disorder(s)}}. {J Am Acad Child Adolesc Psychiatry};2013 (Oct);52(10):1095-1096.
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45. Hallett V, Lecavalier L, Sukhodolsky DG, Cipriano N, Aman MG, McCracken JT, McDougle CJ, Tierney E, King BH, Hollander E, Sikich L, Bregman J, Anagnostou E, Donnelly C, Katsovich L, Dukes K, Vitiello B, Gadow K, Scahill L. {{Exploring the manifestations of anxiety in children with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Oct);43(10):2341-2352.
This study explores the manifestation and measurement of anxiety symptoms in 415 children with ASDs on a 20-item, parent-rated, DSM-IV referenced anxiety scale. In both high and low-functioning children (IQ above vs. below 70), commonly endorsed items assessed restlessness, tension and sleep difficulties. Items requiring verbal expression of worry by the child were rarely endorsed. Higher anxiety was associated with functional language, IQ above 70 and higher scores on several other behavioral measures. Four underlying factors emerged: Generalized Anxiety, Separation Anxiety, Social Anxiety and Over-arousal. Our findings extend our understanding of anxiety across IQ in ASD and provide guidance for improving anxiety outcome measurement.
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46. Hamade A, Salameh P, Medlej-Hashim M, Hajj-Moussa E, Saadallah-Zeidan N, Rizk F. {{Autism in Children and Correlates in Lebanon: A Pilot Case-Control Study}}. {J Res Health Sci};2013;13(2):119-124.
BACKGROUND: Autism spectrum disorder (ASD) is a neurological disorder typically appearing before the age of three. The exact cause of autism remains uncertain, and several factors may be involved in its onset: genetic factors and possible environmental factors. The aim of this study was to assess the correlates of autism in the Lebanese population. METHODS: We investigated the association of autism with several factors in 86 autism cases from specialized schools for children with developmental disabilities and 172 control children from regular public schools in the same regions. Several risk factors for autism were investigated after comparison with a cohort control on parental age, sex, maternal unhappy feeling during pregnancy, consanguineous marriage, and province of residence. The Chi-square test was used to compare nominal variables, and Fisher exact test was used in case expected values within cells were inferior to five. For quantitative variables, we used t-test to compare means between two groups, after checking their distribution normality. For multivariate analysis, we used a forward stepwise likelihood ratio logistic regression. RESULTS: We observed male predominance (79.1%) among autistic infants. There was a significant association between autism and older parents age (OR=1.27), male sex (OR=3.38), unhappy maternal feeling during pregnancy (OR=5.77), living close to industry (OR=6.58), previous childhood infection (OR=8.85), but none concerning maternal age, paternal age and consanguinity. CONCLUSIONS: In this pilot epidemiological study of autism in Lebanon, we found several prenatal and perinatal risk factors for autism that could be modified.
47. Hanaie R, Mohri I, Kagitani-Shimono K, Tachibana M, Azuma J, Matsuzaki J, Watanabe Y, Fujita N, Taniike M. {{Altered Microstructural Connectivity of the Superior Cerebellar Peduncle is Related to Motor Dysfunction in Children with Autistic Spectrum Disorders}}. {Cerebellum};2013 (Oct);12(5):645-656.
Many studies have reported motor impairments in autistic spectrum disorders (ASD). However, the brain mechanism underlying motor impairment in ASD remains unclear. Recent neuroimaging studies have suggested that underconnectivity between the cerebellum and other brain regions contributes to the features of ASD. In this study, we investigated the microstructural integrity of the cerebellar pathways, including the superior, middle, and inferior cerebellar peduncles, of children with and without ASD by using diffusion tensor imaging (DTI) tractography to determine whether the microstructural integrity of the cerebellar pathways is related to motor function in children with ASD. Thirteen children with ASD and 11 age-, gender-, handedness-, and IQ-matched typically developing (TD) controls were enrolled in this study. DTI outcome measurements, such as fractional anisotropy (FA), axial diffusivity (AD), and radial diffusivity (RD), for the cerebellar pathways were calculated. The Movement Assessment Battery for Children 2 (M-ABC 2) was used for assessing motor functions. There were no significant differences between the two groups in RD. However, compared to the TD subjects, patients with ASD had a significantly lower FA in the right superior cerebellar peduncle and lower AD in the left superior cerebellar peduncle, in addition to a significantly lower score in ball skills and the total test score of M-ABC 2. There was a significant positive correlation between the total test score of M-ABC 2 and FA in the right superior cerebellar peduncle in the ASD group. These findings suggest that the altered microstructural integrity of the superior cerebellar peduncle may be related to motor impairment in ASD.
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48. Hattier MA, Matson JL, Macmillan K, Williams L. {{Stereotyped behaviours in children with autism spectrum disorders and atypical development as measured by the BPI-01}}. {Dev Neurorehabil};2013 (Oct);16(5):291-300.
Objective: As repetitive behaviours in children with autism spectrum disorders (ASDs) can significantly interfere with one’s daily functioning, continued research on these behaviours is needed. Methods: This study examined the occurrence of repetitive motor movements in toddlers (17-37 months) with ASD and atypical development and the relationship between stereotypies and sensory impairment. Results: Children with ASD (n = 13) exhibited significantly more repetitive behaviours than the non-ASD group (n = 12). Greater percentages of endorsement were evident for the ASD group on nearly all items of the Behaviour Problems Inventory-01 (BPI-01) Stereotypy subscale. More repetitive behaviours tended to co-occur with other stereotypies for the ASD group. A moderate correlation was found between stereotypy severity and sensory deficits. Conclusion: These findings suggest that stereotyped behaviours can be identified at very young ages, negatively affect the behavioural presentation of those with ASDs and should be considered when developing treatment plans.
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49. Hermann I, Haser V, van Elst LT, Ebert D, Muller-Feldmeth D, Riedel A, Konieczny L. {{Automatic metaphor processing in adults with Asperger syndrome: a metaphor interference effect task}}. {Eur Arch Psychiatry Clin Neurosci};2013 (Oct 1)
This paper investigates automatic processing of novel metaphors in adults with Asperger Syndrome (AS) and typically developing controls. We present an experiment combining a semantic judgment task and a recognition task. Four types of sentences were compared: Literally true high-typical sentences, literally true low-typical sentences, apt metaphors, and scrambled metaphors (literally false sentences which are not readily interpretable as metaphors). Participants were asked to make rapid decisions about the literal truth of such sentences. The results revealed that AS and control participants showed significantly slower RTs for metaphors than for scrambled metaphors and made more mistakes in apt metaphoric sentences than in scrambled metaphors. At the same time, there was higher recognition of apt metaphors compared with scrambled metaphors. The findings indicate intact automatic metaphor processing in AS and replicate previous findings on automatic metaphor processing in typically developing individuals.
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50. Hirota T, Veenstra-Vanderweele J, Hollander E, Kishi T. {{Antiepileptic Medications in Autism Spectrum Disorder: A Systematic Review and Meta-Analysis}}. {J Autism Dev Disord};2013 (Sep 29)
Electroencephalogram-recorded epileptiform activity is common in children with autism spectrum disorder (ASD), even without clinical seizures. A systematic literature search identified 7 randomized, placebo-controlled trials of antiepileptic drugs (AEDs) in ASD (total n = 171), including three of valproate, and one each of lamotrigine, levetiracetam, and topiramate. Meta-analysis revealed no significant difference between medication and placebo in four studies targeting irritability/agitation and three studies investigating global improvement, although limitations include lack of power and different medications with diverse actions. Across all seven studies, there was no significant difference in discontinuation rate between two groups. AEDs do not appear to have a large effect size to treat behavioral symptoms in ASD, but further research is needed, particularly in the subgroup of patients with epileptiform abnormalities.
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51. Hudry K, Aldred C, Wigham S, Green J, Leadbitter K, Temple K, Barlow K, McConachie H. {{Predictors of parent-child interaction style in dyads with autism}}. {Res Dev Disabil};2013 (Oct);34(10):3400-3410.
Parent synchrony has been shown to be developmentally important for the growth of communication skills in young children with autism. Understanding individual-differences in parent synchrony and other associated features of dyadic interaction therefore presents as an important step toward the goal of appreciating how and why some parent-child dyads come to adopt more optimal interaction styles, while for others, parent interaction is more asynchronous and less developmentally facilitative. Within the large, well-characterized Preschool Autism Communication Trial (PACT) cohort, baseline parent-child interaction samples were coded for three key aspects of dyadic interaction style; – Parent Synchrony, Child Initiation, and Shared Attention. We explored associations among these measures, demographic characteristics and standardized child assessment scores. While various child factors were associated with each of the interaction measures, very few associations were observed with parent/familial factors. Child language age-equivalence was a significant positive predictor of variation in each interaction measure, while child repetitive symptoms predicted reduced Shared Attention. The three interaction measures were moderately positively inter-related. In the context of childhood autism, variation in dyadic interaction style appears to be driven more by child language and repetitive behaviors than age, social-communication symptoms and non-verbal ability. Parent/family factors contributed little to explaining variability in parent-child interaction, in the current study.
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52. Huskens B, Verschuur R, Gillesen J, Didden R, Barakova E. {{Promoting question-asking in school-aged children with autism spectrum disorders: Effectiveness of a robot intervention compared to a human-trainer intervention}}. {Dev Neurorehabil};2013 (Oct);16(5):345-356.
Objective: The purpose of the present study was to investigate the effectiveness of an applied behaviour analysis (ABA)-based intervention conducted by a robot compared to an ABA-based intervention conducted by a human trainer in promoting self-initiated questions in children with autism spectrum disorder (ASD). Methods: Data were collected in a combined crossover multiple baseline design across participants. Six children were randomly assigned to two experimental groups. Results: Results revealed that the number of self-initiated questions for both experimental groups increased between baseline and the first intervention and was maintained during follow-up. The high number of self-initiated questions during follow-up indicates that both groups maintained this skill. Conclusions: The interventions conducted by a robot and a human trainer were both effective in promoting self-initiated questions in children with ASD. No conclusion with regard to the differential effectiveness of both interventions could be drawn. Implications of the results and directions for future research are discussed.
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53. Ichikawa K, Takahashi Y, Ando M, Anme T, Ishizaki T, Yamaguchi H, Nakayama T. {{TEACCH-based group social skills training for children with high-functioning autism: a pilot randomized controlled trial}}. {Biopsychosoc Med};2013 (Oct 1);7(1):14.
BACKGROUND: Although social skills training programs for people with high-functioning autism (HFA) are widely practiced, the standardization of curricula, the examination of clinical effectiveness, and the evaluation of the feasibility of future trials have yet to be done in Asian countries. To compensate for this problem, a Japanese pilot randomized controlled trial (RCT) of the Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH)-based group social skills training for children with HFA and their mothers was conducted. METHODS: Eleven children with HFA, aged 5–6 years, and their mothers were randomly assigned to the TEACCH program (n=5) or a waiting-list control group (n=6). The program involved comprehensive group intervention and featured weekly 2-hour sessions, totaling 20 sessions over six months. The adaptive behaviors and social reciprocity of the children, parenting stress, and parent–child interactions were assessed using the Strengths and Difficulties Questionnaire (SDQ), Parenting Stress Index (PSI), Beck depression inventory-II (BDI-II), and Interaction Rating Scale (IRS). RESULTS: Through this pilot trial, the intervention and evaluation of the program has been shaped. There were no dropouts from the program and the mothers’ satisfaction was high. The outcome measurements improved more in the program group than in the control group, with moderate effect sizes (SDQ, 0.71; PSI, 0.58; BDI-II, 0.40; and IRS, 0.69). This pilot trial also implied that this program is more beneficial for high IQ children and mothers with low stress than for those who are not. CONCLUSION: We have standardized the TEACCH program, confirmed the feasibility of a future trial, and successfully estimated the positive effect size. These findings will contribute to a larger trial in the future and to forthcoming systematic reviews with meta-analyses.Trial registration: UMIN000004560.
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54. Johnson CR, Turner KS, Foldes E, Brooks MM, Kronk R, Wiggs L. {{Behavioral parent training to address sleep disturbances in young children with autism spectrum disorder: a pilot trial}}. {Sleep Med};2013 (Oct);14(10):995-1004.
OBJECTIVES: A large percentage of children with autism spectrum disorders (ASD) have bedtime and sleep disturbances. However, the treatment of these disturbances has been understudied. The purpose of our study was to develop a manualized behavioral parent training (BPT) program for parents of young children with ASD and sleep disturbances and to test the feasibility, fidelity, and initial efficacy of the treatment in a small randomized controlled trial (RCT). PARTICIPANTS AND METHODS: Parents of a sample of 40 young children diagnosed with ASD with an average age of 3.5years were enrolled in our study. Participants were randomized to either the BPT program group or a comparison group who were given nonsleep-related parent education. Each participant was individually administered a 5-session program delivered over the 8-week study. Outcome measures of feasibility, fidelity, and efficacy were collected at weeks 4 and 8 after the baseline time point. Children’s sleep was assessed by parent report and objectively by actigraphy. RESULTS: Of the 20 participants in each group, data were available for 15 participants randomized to BPT and 18 participants randomized to the comparison condition. Results supported the feasibility of the manualized parent training program and the comparison program. Treatment fidelity was high for both groups. The BPT program group significantly improved more than the comparison group based on the primary sleep outcome of parent report. There were no objective changes in sleep detected by actigraphy. CONCLUSIONS: Our study is one of few RCTs of a BPT program to specifically target sleep disturbances in a well-characterized sample of young children with ASD and to demonstrate the feasibility of the approach. Initial efficacy favored the BPT program over the comparison group and suggested that this manualized parent training approach is worthy of further examination of the efficacy within a larger RCT.
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55. Kancherla V, Van Naarden Braun K, Yeargin-Allsopp M. {{Childhood vision impairment, hearing loss and co-occurring autism spectrum disorder}}. {Disabil Health J};2013 (Oct);6(4):333-342.
BACKGROUND: Limited population-based data on prevalence of childhood vision impairment (VI) and hearing loss (HL), and their co-occurrence with autism spectrum disorder (ASD) exists. OBJECTIVE: To examine prevalence and characteristics of VI, HL and co-occurring ASD among 8-year-olds in metropolitan Atlanta 2000-2008. METHODS: We used data from the population-based Metropolitan Atlanta Developmental Disabilities Surveillance Program. Prevalence, birth and parental characteristics, presence and severity of other co-occurring developmental disabilities, and age of earliest identification of ASD, were examined for children with VI and HL, by co-occurring ASD. RESULTS: VI and HL prevalences were 1.2 and 1.3 per 1000 8-year-olds, respectively. Approximately 6-7% of children with VI or HL had co-occurring ASD. Children with VI or HL with co-occurring ASD differed from those without co-occurring ASD by select birth characteristics and the presence of other co-occurring DDs. The median age of earliest known ASD diagnosis was significantly later among children with VI and ASD compared to children with ASD without VI (79 vs. 56 months). Children with HL and ASD were first evaluated by a community provider significantly earlier than those with ASD without HL (40 vs. 50 months). CONCLUSIONS: The frequency of co-occurring ASD with VI and HL is higher than the population prevalence of ASD. The significant delays in diagnosis of ASD in children with VI and lack of earlier diagnosis of ASD among children with HL despite earlier evaluation highlight the importance of developing screening tools for early identification of ASD among children with VI and HL.
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56. Keehn B, Shih P, Brenner LA, Townsend J, Muller RA. {{Functional connectivity for an « Island of sparing » in autism spectrum disorder: An fMRI study of visual search}}. {Hum Brain Mapp};2013 (Oct);34(10):2524-2537.
Although autism is usually characterized with respect to sociocommunicative impairments, visual search is known as a domain of relative performance strength in this disorder. This study used functional MRI during visual search in children with autism spectrum disorder (n = 19; mean age = 13;10) and matched typically developing children (n = 19; mean age = 14;0). We selected regions of interest within two attentional networks known to play a crucial role in visual search processes, such as goal-directed selective attention, filtering of irrelevant distractors, and detection of behaviorally-relevant information, and examined activation and connectivity within and between these attentional networks. Additionally, based on prior research suggesting links between visual search abilities and autism symptomatology, we tested for correlations between sociocommunicative impairments and behavioral and neural indices of search. Contrary to many previous functional connectivity magnetic resonance imaging studies of autism that reported functional underconnectivity for task domains of weakness, we found atypically increased connectivity within and between attentional networks in autism. Additionally, we found increased functional connectivity for occipital regions, both locally and for long-distance connections with frontal regions. Both behavioral and neural indices of search were correlated with sociocommunicative impairment in children with autism. This association suggests that strengths in nonsocial visuospatial processing may be related to the development of core autistic sociocommunicative impairments. Hum Brain Mapp 34:2524-2537, 2013. (c) 2012 Wiley Periodicals, Inc.
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57. Kelemen O, Kovacs T, Keri S. {{Contrast, motion, perceptual integration, and neurocognition in schizophrenia: The role of fragile-X related mechanisms}}. {Prog Neuropsychopharmacol Biol Psychiatry};2013 (Oct);46:92-97.
Recent studies demonstrated a reduced expression of Fragile X Mental Retardation Protein (FMRP), an RNA binding protein and translation regulator, in the brain and peripheral lymphocytes of patients with schizophrenia. Low FMRP levels may be related to impaired neurodevelopmental processes and synaptic plasticity. Here, we studied the relationship between peripheral FMRP level, visual perception (contrast sensitivity, perceptual integration, motion/form perception), and neuropsychological functions in schizophrenia as measured with the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS). Results revealed that patients with schizophrenia displayed lower FMRP levels in peripheral lymphocytes as compared to control individuals. We found significant correlations between FMRP levels and contrast sensitivity at low spatial and high temporal frequencies, perceptual integration, and motion perception. The relationship between FMRP level and neuropsychological functions was less pronounced than that seen in the case of visual perception, with the greatest effect for RBANS attention. FMRP level was not related to contrast sensitivity at high spatial and low temporal frequencies and form perception. This pattern of data is reminiscent to that observed in patients with Fragile X Syndrome (FXS). These results suggest that FMRP may be implicated in the pathogenesis of schizophrenia, possibly via the regulation of neurodevelopment, plasticity, GABA-ergic, and glutamatergic neurotransmission.
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58. Koldewyn K, Jiang YV, Weigelt S, Kanwisher N. {{Global/Local processing in autism: not a disability, but a disinclination}}. {J Autism Dev Disord};2013 (Oct);43(10):2329-2340.
It is widely suggested that ASD is characterized by atypical local/global processing, but the published findings are contradictory. In an effort to resolve this question, we tested a large group of children on both a free-choice task and an instructed task using hierarchical local-global stimuli. We find that although children with autism showed a reduced preference to report global properties of a stimulus when given a choice, their ability to process global properties when instructed to do so is unimpaired. These findings support prior claims that people with ASD show a disinclination, not a disability, in global processing, and highlight the broader question of whether other characteristics of autism may also reflect disinclinations rather than disabilities.
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59. Kubota T, Miyake K, Hirasawa T. {{Role of epigenetics in Rett syndrome}}. {Epigenomics};2013 (Oct);5(5):583-592.
Rett syndrome (RTT) is an X-linked neurodevelopmental disease caused by MECP2 mutations. The MeCP2 protein was originally thought to function as a transcription repressor by binding to methylated CpG dinucleotides, but is now also thought to be a transcription activator. Recent studies suggest that MeCP2 is not only being expressed in neurons, but also in glial cells, which suggests a new paradigm for understanding the pathogenesis of RTT. It has also been demonstrated that reintroduction of MeCP2 into behaviorally affected Mecp2-null mice after birth rescues neurological symptoms, which indicates that epigenetic failures in RTT are reversible. Therefore, RTT may well be seen as a model disease that can be potentially treated by taking advantage of the reversibility of epigenetic phenomena in various congenital neurodevelopmental diseases that were previously thought to be untreatable.
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60. Lai MC, Lombardo MV, Baron-Cohen S. {{Autism}}. {Lancet};2013 (Sep 25)
Autism is a set of heterogeneous neurodevelopmental conditions, characterised by early-onset difficulties in social communication and unusually restricted, repetitive behaviour and interests. The worldwide population prevalence is about 1%. Autism affects more male than female individuals, and comorbidity is common (>70% have concurrent conditions). Individuals with autism have atypical cognitive profiles, such as impaired social cognition and social perception, executive dysfunction, and atypical perceptual and information processing. These profiles are underpinned by atypical neural development at the systems level. Genetics has a key role in the aetiology of autism, in conjunction with developmentally early environmental factors. Large-effect rare mutations and small-effect common variants contribute to risk. Assessment needs to be multidisciplinary and developmental, and early detection is essential for early intervention. Early comprehensive and targeted behavioural interventions can improve social communication and reduce anxiety and aggression. Drugs can reduce comorbid symptoms, but do not directly improve social communication. Creation of a supportive environment that accepts and respects that the individual is different is crucial.
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61. Lemcke S, Juul S, Parner ET, Lauritsen MB, Thorsen P. {{Early signs of autism in toddlers: a follow-up study in the danish national birth cohort}}. {J Autism Dev Disord};2013 (Oct);43(10):2366-2375.
To identify possible early signs of autism spectrum disorder (ASD) within the Danish National Birth Cohort, we studied prospectively collected interviews from 76,441 mothers about their children’s development and behaviour at 6 and 18 months. In Danish national registries, 720 children with ASD and 231 children with intellectual disability (ID) were identified. At 6 months, associations between early signs and ASD or ID were found only in few areas. At 18 months social, language, and motor skills were delayed, and suspicion of vision and hearing problems were increased for both groups. Signs distinguishing ASD from ID were unclear, and the positive predictive values regarding ASD were below 10 % for individual predictors and aggregated risk scores.
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62. Leonard H, Ravikumara M, Baikie G, Naseem N, Ellaway C, Percy A, Abraham S, Geerts S, Lane J, Jones M, Bathgate K, Downs J. {{Assessment and Management of Nutrition and Growth in Rett Syndrome}}. {J Pediatr Gastroenterol Nutr};2013 (Oct);57(4):451-460.
OBJECTIVES:: We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an expert panel of clinicians. METHODS:: Initial draft recommendations were created based upon literature review and 34 open-ended questions in which the literature was lacking. Statements and questions were made available to an international, multidisciplinary panel of clinicians in an online format and a Microsoft Word-formatted version of the draft via e-mail. Input was sought using a 2-stage modified Delphi process to reach consensus. Items included clinical assessment of growth, anthropometry, feeding difficulties and management to increase energy intake, decrease feeding difficulties, and consideration of gastrostomy. RESULTS:: Agreement was achieved on 101 of 112 statements. A comprehensive approach to the management of poor growth in Rett syndrome is recommended that takes into account factors such as feeding difficulties and nutritional needs. A body mass index of approximately the 25th centile can be considered as a reasonable target in clinical practice. Gastrostomy is indicated for extremely poor growth, if there is risk of aspiration and if feeding times are prolonged. CONCLUSIONS:: These evidence- and consensus-based recommendations have the potential to improve care of nutrition and growth in a rare condition and stimulate research to improve the present limited evidence base.
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63. Lin CS, Chang SH, Liou WY, Tsai YS. {{The development of a multimedia online language assessment tool for young children with autism}}. {Res Dev Disabil};2013 (Oct);34(10):3553-3565.
This study aimed to provide early childhood special education professionals with a standardized and comprehensive language assessment tool for the early identification of language learning characteristics (e.g., hyperlexia) of young children with autism. In this study, we used computer technology to develop a multi-media online language assessment tool that presents auditory or visual stimuli. This online comprehensive language assessment consists of six subtests: decoding, homographs, auditory vocabulary comprehension, visual vocabulary comprehension, auditory sentence comprehension, and visual sentence comprehension. Three hundred typically developing children and 35 children with autism from Tao-Yuan County in Taiwan aged 4-6 participated in this study. The Cronbach alpha values of the six subtests ranged from .64 to .97. The variance explained by the six subtests ranged from 14% to 56%, the current validity of each subtest with the Peabody Picture Vocabulary Test-Revised ranged from .21 to .45, and the predictive validity of each subtest with WISC-III ranged from .47 to .75. This assessment tool was also found to be able to accurately differentiate children with autism up to 92%. These results indicate that this assessment tool has both adequate reliability and validity. Additionally, 35 children with autism have completed the entire assessment in this study without exhibiting any extremely troubling behaviors. However, future research is needed to increase the sample size of both typically developing children and young children with autism and to overcome the technical challenges associated with internet issues.
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64. Lydon S, Healy O, O’Reilly M, McCoy A. {{A systematic review and evaluation of response redirection as a treatment for challenging behavior in individuals with developmental disabilities}}. {Res Dev Disabil};2013 (Oct);34(10):3148-3158.
Response redirection is widely used in clinical practice as a treatment for repetitive behavior or stereotypy in persons with developmental disabilities. However, to date the procedure has received comparatively little empirical evaluation. The current review sought to examine the literature describing the efficacy of response redirection alone, response interruption and redirection (RIRD), and multi-element treatment packages incorporating response redirection, as interventions for challenging behavior in individuals with developmental disabilities. Additionally, the status of response redirection, and RIRD, as evidence-based practice was evaluated in accordance with Reichow’s (2011) recently developed criteria. Results indicated that interventions involving response redirection or RIRD typically led to large decreases in challenging behavior but did not result in behavioral suppression. On the basis of the current literature and in accordance with Reichow’s criteria, interventions incorporating response redirection do not yet constitute evidence-based practice. The implications of these findings, for both research and practice, are discussed.
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65. Mazumdar S, Winter A, Liu KY, Bearman P. {{Spatial clusters of autism births and diagnoses point to contextual drivers of increased prevalence}}. {Soc Sci Med};2013 (Oct);95:87-96.
Autism prevalence has risen dramatically over the past two decades in California. Although often suggested to have been crucial to the rise of autism, environmental and social contextual drivers of diagnosis have not been extensively examined. Identifying the spatial patterning of autism cases at birth and at diagnosis can help clarify which contextual drivers are affecting autism’s rising prevalence. Children with autism not co-morbid with mental retardation served by the California Department of Developmental Services during the period 1992-2005 were matched to California’s Birth Master Files. We search for spatial clusters of autism at time of birth and at time of diagnosis using a spatial scan approach that controls for key individual-level risk factors. We then test whether indicators of neighborhood-level diagnostic resources are associated with the diagnostic clusters and assess the extent of clustering by autism symptom severity through a multivariate scan. Finally, we test whether children who move into neighborhoods with higher levels of resources are more likely to receive an autism diagnosis relative to those who do not move with regard to resources. Significant birth and diagnostic clusters of autism are observed independent of key individual-level risk factors. While the clusters overlap, there is a strong positive association between the diagnostic clusters and neighborhood-level diagnostic resources. In addition, children with autism who are higher functioning are more likely to be diagnosed within a cluster than children with autism who are lower functioning. Most importantly, children who move into a neighborhood with more diagnostic resources than their previous residence are more likely to subsequently receive an autism diagnosis than children whose neighborhood resources do not change. We identify birth and diagnostic clusters of autism in California that are independent of individual-level autism risk factors. Our findings implicate a causal relationship between neighborhood-level diagnostic resources and spatial patterns of autism incidence but do not rule out the possibility that environmental toxicants have also contributed to autism risk.
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66. Memari AH, Ziaee V, Shayestehfar M, Ghanouni P, Mansournia MA, Moshayedi P. {{Cognitive flexibility impairments in children with autism spectrum disorders: Links to age, gender and child outcomes}}. {Res Dev Disabil};2013 (Oct);34(10):3218-3225.
There are still many questions about the cognitive flexibility in autism spectrum disorder (ASD) that remain unanswered. The goal of current study was to evaluate cognitive flexibility patterns and their demographic, clinical and behavioral correlates in large sample of children with ASD. A total of 123 children (94 boys and 29 girls) with ASD aged 7-14 years were assessed on the Wisconsin card sorting test (WCST). Findings showed that gender but not age was associated with the cognitive flexibility performance in ASD. Individuals who had more parent-reported language deficits, lower level of intelligence and education, and showed lower daily sleep time or more engagement in solitary instead of social daily activities were more likely to demonstrate perseveration. Findings provide tentative evidence of a link between cognitive flexibility deficits and sociodemographic or clinical child outcomes in ASD.
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67. Midouhas E, Yogaratnam A, Flouri E, Charman T. {{Psychopathology trajectories of children with autism spectrum disorder: the role of family poverty and parenting}}. {J Am Acad Child Adolesc Psychiatry};2013 (Oct);52(10):1057-1065 e1051.
OBJECTIVE: Children with autism spectrum disorder (ASD) are reported to have high rates of co-occurring psychopathology. Little is known about risk factors that might contribute to this psychopathology. This study modeled the effect of family poverty on psychopathology trajectories in young children with ASD, and examined whether home organization and maternal warmth and involvement could buffer the effect of poverty on children’s psychopathology. METHOD: The sample comprised 209 children with ASD who participated in the UK’s Millennium Cohort Study, a population birth cohort study. Individual trajectories of psychopathology at ages 3, 5, and 7 years were analyzed using growth curve models. Psychopathology was assessed with the Strengths and Difficulties Questionnaire. RESULTS: Children with ASD exhibited increasingly high rates of psychopathology over time. Family poverty was associated with broad and specific (emotional and conduct problems) psychopathology, but not with changes in psychopathology over time. Warmth, involvement, and home organization did not buffer the association of family poverty with psychopathology. However, low warmth explained the relationship between poverty and broad psychopathology, and predicted annual changes in broad psychopathology. Warmth was associated with fewer conduct problems and less hyperactivity, and with an annual decrease in peer and conduct problems. Household chaos was a risk factor for conduct problems, as was maternal involvement for peer problems. CONCLUSIONS: Family poverty, low maternal warmth, and household chaos are risk factors for externalizing problems in children with ASD. Maternal warmth may be a key target for intervention, particularly in poorer families of children with ASD.
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68. Miller VM, Zhu Y, Bucher C, McGinnis W, Ryan LK, Siegel A, Zalcman S. {{Gestational flu exposure induces changes in neurochemicals, affiliative hormones and brainstem inflammation, in addition to autism-like behaviors in mice}}. {Brain Behav Immun};2013 (Oct);33:153-163.
The prevalence of neurodevelopmental disorders such as autism is increasing, however the etiology of these disorders is unclear and thought to involve a combination of genetic, environmental and immune factors. A recent epidemiological study found that gestational viral exposure during the first trimester increases risk of autism in offspring by twofold. In mice gestational viral exposures alter behavior of offspring, but the biological mechanisms which underpin these behavioral changes are unclear. We hypothesized that gestational viral exposure induces changes in affiliative hormones, brainstem autonomic nuclei and neurotransmitters which are associated with behavioral alterations in offspring. To address this hypothesis, we exposed pregnant mice to influenza A virus (H3N2) on gestational day 9 and determined behavioral, hormonal and brainstem changes in male and female offspring. We found that gestational flu exposure induced dose-dependent alterations in social and aggressive behaviors (p0.05) in male and female offspring and increases in locomotor behaviors particularly in male offspring (p0.05). We found that flu exposure was also associated with reductions in oxytocin and serotonin (p0.05) levels in male and female offspring and sex-specific changes in dopamine metabolism. In addition we found changes in catecholaminergic and microglia density in brainstem tissues of male flu exposed offspring only (p0.05). This study demonstrates that gestational viral exposure induces behavioral changes in mice, which are associated with alterations in affiliative hormones. In addition we found sex-specific changes in locomotor behavior, which may be associated with sex-specific alterations in dopamine metabolism and brainstem inflammation. Further investigations into maternal immune responses are necessary to unravel the molecular mechanisms which underpin abnormal hormonal, immune and behavioral responses in offspring after gestational viral exposure.
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69. Moreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter DH. {{Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts}}. {Mol Psychiatry};2013 (Oct);18(10):1090-1095.
Copy number variants (CNVs) have a major role in the etiology of autism spectrum disorders (ASD), and several of these have reached statistical significance in case-control analyses. Nevertheless, current ASD cohorts are not large enough to detect very rare CNVs that may be causative or contributory (that is, risk alleles). Here, we use a tiered approach, in which clinically significant CNVs are first identified in large clinical cohorts of neurodevelopmental disorders (including but not specific to ASD), after which these CNVs are then systematically identified within well-characterized ASD cohorts. We focused our initial analysis on 48 recurrent CNVs (segmental duplication-mediated ‘hotspots’) from 24 loci in 31 516 published clinical cases with neurodevelopmental disorders and 13 696 published controls, which yielded a total of 19 deletion CNVs and 11 duplication CNVs that reached statistical significance. We then investigated the overlap of these 30 CNVs in a combined sample of 3955 well-characterized ASD cases from three published studies. We identified 73 deleterious recurrent CNVs, including 36 deletions from 11 loci and 37 duplications from seven loci, for a frequency of 1 in 54; had we considered the ASD cohorts alone, only 58 CNVs from eight loci (24 deletions from three loci and 34 duplications from five loci) would have reached statistical significance. In conclusion, until there are sufficiently large ASD research cohorts with enough power to detect very rare causative or contributory CNVs, data from larger clinical cohorts can be used to infer the likely clinical significance of CNVs in ASD.
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70. Nissenkorn A, Ben-Zeev B. {{Unilateral rhythmic hand tapping in rett syndrome: is this stereotypy?}}. {J Child Neurol};2013 (Oct);28(10):1210-1214.
Rett syndrome is a severe neurodevelopmental disorder, with hand stereotypies as a hallmark of the disease. Epilepsy is a frequent comorbidity and is accompanied by centrotemporal spikes on electroencephalogram, but stereotypic movements should not have epileptiform correlates. During routine video-electroencephalographic investigation in 5 Rett syndrome patients, we identified a peculiar type of unilateral, highly rhythmic hand tapping accompanied by contralateral synchronous centrotemporal spikes on electroencephalography. This phenomenon is not consistent with either reflex seizures or hand stereotypies and does not respond to antiepileptic drugs. The electroencephalographic activity probably represents evoked potentials, either somatosensory or motor, whereas the rhythmic activity raises the possibility of a subcortical pacemaker for a stereotypy variant. The phenomenon could be caused by abnormal circuitry among the hyperexcitable somatosensory cortex, motor cortex, and subcortical areas in Rett syndrome. Clinicians should be aware of the nonepileptic nature of this motor behavior and should not attempt to treat it.
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71. Nylander L, Holmqvist M, Gustafson L, Gillberg C. {{Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in adult psychiatry. A 20-year register study}}. {Nord J Psychiatry};2013 (Oct);67(5):344-350.
Abstract Nylander L, Holmqvist M, Gustafson L, Gillberg C. Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in adult psychiatry. A 20-year register study. Nord J Psychiatry 2012;Early Online:1-7 Objective: Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are increasingly recognized in adults. This study aimed to assess trends in diagnostic practice, diagnostic delay and comorbidity regarding ADHD and ASD in adult psychiatric patients. Methods: Individuals with diagnosed ADHD or ASD were identified in an adult psychiatry register comprising 56,462 patients. Results: ADHD was diagnosed in up to 2.7% and ASD in 1.3% of the patients. Most cases were diagnosed within 2 years of first contact with adult psychiatry, but some patients were treated for 10 years or more before being diagnosed with ADHD or ASD. Seventy per cent of ADHD and 56% of ASD patients were treated as outpatients only. Other psychiatric diagnoses were registered in about 60%. Affective disorders were common in patients with ADHD. Psychoses and intellectual disability were more common in ASD patients. Psychoactive substance use-related disorders were considerably more common in those with ADHD. Concomitant ADHD and ASD were seldom diagnosed in this clinical material. Conclusion: ADHD and ASD were probably much underdiagnosed in the studied group of psychiatric patients. Other psychiatric diagnoses were common, but not ADHD with concomitant ASD.
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72. Pacey LK, Xuan IC, Guan S, Sussman D, Henkelman RM, Chen Y, Thomsen C, Hampson DR. {{Delayed myelination in a mouse model of fragile X syndrome}}. {Hum Mol Genet};2013 (Oct 1);22(19):3920-3930.
Fragile X Syndrome is the most common inherited cause of autism. Fragile X mental retardation protein (FMRP), which is absent in fragile X, is an mRNA binding protein that regulates the translation of hundreds of different mRNA transcripts. In the adult brain, FMRP is expressed primarily in the neurons; however, it is also expressed in developing glial cells, where its function is not well understood. Here, we show that fragile X (Fmr1) knockout mice display abnormalities in the myelination of cerebellar axons as early as the first postnatal week, corresponding roughly to the equivalent time in human brain development when symptoms of the syndrome first become apparent (1-3 years of age). At postnatal day (PND) 7, diffusion tensor magnetic resonance imaging showed reduced volume of the Fmr1 cerebellum compared with wild-type mice, concomitant with an 80-85% reduction in the expression of myelin basic protein, fewer myelinated axons and reduced thickness of myelin sheaths, as measured by electron microscopy. Both the expression of the proteoglycan NG2 and the number of PDGFRalpha+/NG2+ oligodendrocyte precursor cells were reduced in the Fmr1 cerebellum at PND 7. Although myelin proteins were still depressed at PND 15, they regained wild-type levels by PND 30. These findings suggest that impaired maturation or function of oligodendrocyte precursor cells induces delayed myelination in the Fmr1 mouse brain. Our results bolster an emerging recognition that white matter abnormalities in early postnatal brain development represent an underlying neurological deficit in Fragile X syndrome.
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73. Pedersen L, Parlar S, Kvist K, Whiteley P, Shattock P. {{Data mining the ScanBrit study of a gluten- and casein-free dietary intervention for children with autism spectrum disorders: Behavioural and psychometric measures of dietary response}}. {Nutr Neurosci};2013 (Sep 7)
We previously reported results based on the examination of a gluten- and casein-free diet as an intervention for children diagnosed with an autism spectrum disorder as part of the ScanBrit collaboration. Analysis based on grouped results indicated several significant differences between dietary and non-dietary participants across various core and peripheral areas of functioning. Results also indicated some disparity in individual responses to dietary modification potentially indicative of responder and non-responder differences. Further examination of the behavioural and psychometric data garnered from participants was undertaken, with a view to determining potential factors pertinent to response to dietary intervention. Participants with clinically significant scores indicative of inattention and hyperactivity behaviours and who had a significant positive changes to said scores were defined as responders to the dietary intervention. Analyses indicated several factors to be potentially pertinent to a positive response to dietary intervention in terms of symptom presentation. Chronological age was found to be the strongest predictor of response, where those participants aged between 7 and 9 years seemed to derive most benefit from dietary intervention. Further analysis based on the criteria for original study inclusion on the presence of the urine compound, trans-indolyl-3-acryloylglycine may also merit further investigation. These preliminary observations on potential best responder characteristics to a gluten- and casein-free diet for children with autism require independent replication.
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74. Rattaz C, Dubois A, Michelon C, Viellard M, Poinso F, Baghdadli A. {{How do children with autism spectrum disorders express pain? A comparison with developmentally delayed and typically developing children}}. {Pain};2013 (Oct);154(10):2007-2013.
There is a lack of knowledge about pain reactions in children with autism spectrum disorders (ASD), who have often been considered as insensitive to pain. The objective of this study was to describe the facial, behavioral and physiological reactions of children with ASD during venipuncture and to compare them to the reactions of children with an intellectual disability and nonimpaired control children. We also examined the relation between developmental age and pain reactions. The sample included 35 children with ASD, 32 children with an intellectual disability, and 36 nonimpaired children. The children were videotaped during venipuncture and their heart rate was recorded. Facial reactions were assessed using the Child Facial Coding System (CFCS) and behavioral reactions were scored using the Noncommunicating Children’s Pain Checklist (NCCPC). A linear mixed-effects model showed that children’s reactions increased between baseline and venipuncture and decreased between the end of venipuncture and the recovery period. There was no significant difference between groups regarding the amount of facial, behavioral and physiological reactions. However, behavioral reactions seemed to remain high in children with ASD after the end of the venipuncture, in contrast with children in the 2 other groups. Moreover, we observed a significant decrease in pain expression with age in nonimpaired children, but no such effect was found regarding children with ASD. The data reveal that children with ASD displayed a significant pain reaction in this situation and tend to recover more slowly after the painful experience. Improvement in pain assessment and management in this population is necessary.
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75. Raz R, Lerner-Geva L, Leon O, Chodick G, Gabis LV. {{A Survey of Out-of-Pocket Expenditures for Children with Autism Spectrum Disorder in Israel}}. {J Autism Dev Disord};2013 (Oct);43(10):2295-2302.
We describe a survey of children with ASD aged 4-10 years. The main dependent variables were out-of-pocket expenditures for health services and hours of therapy. Multivariable logistic regression models were used in order to find independent predictors for service utilization. Parents of 178 of the children (87 %) agreed to participate. The average annual out-of-pocket cost was $8,288, with a median of $4,473 and a range of $0-89,754. Higher severity of ASD and a parent with an academic degree were associated with higher expenditure. Having at least one older sibling, siblings without developmental disorders, regular education setting, lower parent education and low income were associated with lower expenditure.
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76. Redcay E, Dodell-Feder D, Mavros PL, Kleiner M, Pearrow MJ, Triantafyllou C, Gabrieli JD, Saxe R. {{Atypical brain activation patterns during a face-to-face joint attention game in adults with autism spectrum disorder}}. {Hum Brain Mapp};2013 (Oct);34(10):2511-2523.
Joint attention behaviors include initiating one’s own and responding to another’s bid for joint attention to an object, person, or topic. Joint attention abilities in autism are pervasively atypical, correlate with development of language and social abilities, and discriminate children with autism from other developmental disorders. Despite the importance of these behaviors, the neural correlates of joint attention in individuals with autism remain unclear. This paucity of data is likely due to the inherent challenge of acquiring data during a real-time social interaction. We used a novel experimental set-up in which participants engaged with an experimenter in an interactive face-to-face joint attention game during fMRI data acquisition. Both initiating and responding to joint attention behaviors were examined as well as a solo attention (SA) control condition. Participants included adults with autism spectrum disorder (ASD) (n = 13), a mean age- and sex-matched neurotypical group (n = 14), and a separate group of neurotypical adults (n = 22). Significant differences were found between groups within social-cognitive brain regions, including dorsal medial prefrontal cortex (dMPFC) and right posterior superior temporal sulcus (pSTS), during the RJA as compared to SA conditions. Region-of-interest analyses revealed a lack of signal differentiation between joint attention and control conditions within left pSTS and dMPFC in individuals with ASD. Within the pSTS, this lack of differentiation was characterized by reduced activation during joint attention and relative hyper-activation during SA. These findings suggest a possible failure of developmental neural specialization within the STS and dMPFC to joint attention in ASD. Hum Brain Mapp 34:2511-2523, 2013. (c) 2012 Wiley Periodicals, Inc.
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77. Reichow B, Shefcyk A, Bruder MB. {{Quality comparison of websites related to developmental disabilities}}. {Res Dev Disabil};2013 (Oct);34(10):3077-3083.
The Internet is commonly used to seek health-related information, but little is known about the quality of websites on developmental disabilities. Therefore, we sought to evaluate the characteristics and quality of websites located by searching ten common terms related to developmental disabilities and explore relations between website characteristics and website quality in order to make recommendations on ways to ensure locating good online information. We located 208 unique websites in our November 2012 US searches of Google and Bing. Two independent coders evaluated 10 characteristics of the websites and two different coders assessed the quality of the websites. From the 208 websites, 104 (50%) provided relevant information about the disability being searched. Of these 104 websites, those found to be of highest quality were least likely to be a sponsored result, contain advertisements, be from a for-profit company, and did contain references to peer-reviewed publications or had a top-level domain of .gov or .org. Individuals with developmental disabilities and their family members who choose to obtain disability-related information online should remain vigilant to ensure that they locate high-quality and accurate information and should not replace information obtained from health-care professionals and educational specialists with information found online.
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78. Richard AE, Lajiness-O’Neill RR, Bowyer SM. {{Impaired prefrontal gamma band synchrony in autism spectrum disorders during gaze cueing}}. {Neuroreport};2013 (Nov 13);24(16):894-897.
Orienting to eye gaze is a vital social skill that is absent or developmentally delayed in autism spectrum disorders (ASD). Neural synchrony in the gamma frequency band is believed to be involved in perceptual and cognitive functions such as eye-gaze processing, and has been found to be abnormal in ASD. The current study used magnetoencephalography to measure neural synchrony in the gamma frequency band in neurotypicals (n=8) and individuals with ASD (n=10) while performing a directional eye-gaze processing task. Results support impaired generation of neural synchrony in the gamma frequency band during eye-gaze processing in ASD. Impaired gamma oscillatory activity in the prefrontal cortex may be associated with impairments in social cognitive functions such as eye-gaze processing in ASD.
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79. Riva D, Annunziata S, Contarino V, Erbetta A, Aquino D, Bulgheroni S. {{Gray Matter Reduction in the Vermis and CRUS-II Is Associated with Social and Interaction Deficits in Low-Functioning Children with Autistic Spectrum Disorders: a VBM-DARTEL Study}}. {Cerebellum};2013 (Oct);12(5):676-685.
Voxel-based morphometry (VBM) studies have reported abnormalities in brain regions involved in functions that are commonly impaired in autism spectrum disorders (ASD). However, little is known about brain structure anomalies in low-functioning (LF) young children with ASD. A VBM analysis was carried out to assess brain regions involved in ASD LF children, and a multiple regression analysis was used to examine the relationship between regional volume changes and autism symptom measures. Twenty-six LF ASD children (2-10 years) were compared with 21 controls. A VBM-Diffeomorphic Anatomical Registration analysis using Exponentiated Lie algebra (DARTEL) was used to evaluate gray matter (GM) and white matter alterations, covaried with Intelligence Quotient, age, and total brain volume. The resulting altered regions were correlated with Autism Diagnostic Interview (ADI)-Revised and Autism Diagnostic Observation Schedule (ADOS)-Generic scores. GM bilateral reduction was noted in the cerebellum (Crus II and vermis) and in the hippocampi in ASD group. GM reduction was also detected in the inferior and superior frontal gyri, in the occipital medial and superior gyri, and in the inferior temporal gyrus of the left cerebral hemisphere. In the right hemisphere, GM reduction was found in the post-central cortex and in the occipital inferior gyrus. Multiple regression analysis showed a correlation between alterations in GM volume in the cerebellum (Crus II and vermis) and ADI-communication and ADOS-total (communication and interaction) scores. These findings seem to confirm that the cerebellum is involved in integrating and regulating emotional and cognitive functions which are impaired in ASD.
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80. Scarpa A, Reyes NM, Patriquin MA, Lorenzi J, Hassenfeldt TA, Desai VJ, Kerkering KW. {{The modified checklist for autism in toddlers: reliability in a diverse rural american sample}}. {J Autism Dev Disord};2013 (Oct);43(10):2269-2279.
This study investigated the psychometric properties of the modified checklist for autism in toddlers (M-CHAT) in a diverse rural American low-socioeconomic status (SES) sample. Four hundred and forty-seven English (n = 335) and Spanish (n = 112) speaking caregivers completed the M-CHAT during their toddler’s 18- or 24-month well visit in a Southwest Virginia pediatric clinic. The M-CHAT did not show acceptable internal consistency in groups with low maternal education or minority status. Caregivers reporting low maternal education and minority status were more likely to endorse items suggestive of autism. These results indicate that the M-CHAT may require modifications to be more internally consistent and accurate across ethnic and educational groups in rural areas with low levels of SES. Recommendations to increase the utility of the M-CHAT are discussed.
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81. Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. {{Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism}}. {Nat Genet};2013 (Sep 29)
Prader-Willi syndrome (PWS) is caused by the absence of paternally expressed, maternally silenced genes at 15q11-q13. We report four individuals with truncating mutations on the paternal allele of MAGEL2, a gene within the PWS domain. The first subject was ascertained by whole-genome sequencing analysis for PWS features. Three additional subjects were identified by reviewing the results of exome sequencing of 1,248 cases in a clinical laboratory. All four subjects had autism spectrum disorder (ASD), intellectual disability and a varying degree of clinical and behavioral features of PWS. These findings suggest that MAGEL2 is a new gene causing complex ASD and that MAGEL2 loss of function can contribute to several aspects of the PWS phenotype.
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82. Schneider A, Leigh MJ, Adams P, Nanakul R, Chechi T, Olichney J, Hagerman R, Hessl D. {{Electrocortical changes associated with minocycline treatment in fragile X syndrome}}. {J Psychopharmacol};2013 (Oct);27(10):956-963.
Minocycline normalizes synaptic connections and behavior in the knockout mouse model of fragile X syndrome (FXS). Human-targeted treatment trials with minocycline have shown benefits in behavioral measures and parent reports. Event-related potentials (ERPs) may provide a sensitive method of monitoring treatment response and changes in coordinated brain activity. Measurement of electrocortical changes due to minocycline was done in a double-blind, placebo-controlled crossover treatment trial in children with FXS. Children with FXS (Meanage 10.5 years) were randomized to minocycline or placebo treatment for 3 months then changed to the other treatment for 3 months. The minocycline dosage ranged from 25-100 mg daily, based on weight. Twelve individuals with FXS (eight male, four female) completed ERP studies using a passive auditory oddball paradigm. Current source density (CSD) and ERP analysis at baseline showed high-amplitude, long-latency components over temporal regions. After 3 months of treatment with minocycline, the temporal N1 and P2 amplitudes were significantly reduced compared with placebo. There was a significant amplitude increase of the central P2 component on minocycline. Electrocortical habituation to auditory stimuli improved with minocycline treatment. Our study demonstrated improvements of the ERP in children with FXS treated with minocycline, and the potential feasibility and sensitivity of ERPs as a cognitive biomarker in FXS treatment trials.
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83. Schupp CW, Simon D, Corbett BA. {{Cortisol responsivity differences in children with autism spectrum disorders during free and cooperative play}}. {J Autism Dev Disord};2013 (Oct);43(10):2405-2417.
Children with autism spectrum disorder (ASD) demonstrate significant heterogeneity in their profiles of social interaction and stress responsivity. We evaluated behavior and stress response in 52 male children ages 8-12 in a naturalistic playground interaction paradigm involving a child with ASD, a typically developing peer, and a same-age confederate. Younger children in the ASD group engaged in 5.8 times more approach behavior and showed a lower cortisol response than their older peers. Those that verbally initiated with their peers also showed a higher cortisol response. Older children with ASD exhibited the highest stress responsivity, while younger children with ASD showed more willingness to approach others without apparent stress. Intervening early and often may contribute to improvements in social engagement in youth with ASD.
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84. Semansky RM, Xie M, Lawer LJ, Mandell DS. {{How States Use Medicaid to Fund Community-Based Services to Children With Autism Spectrum Disorders}}. {Psychiatr Serv};2013 (Oct 1);64(10):1051-1055.
OBJECTIVE This study examined the extent to which state Medicaid agencies funded 16 services for children with autism spectrum disorders: individual therapy, physical and occupational therapy, in-home supports, speech therapy, diagnostic assessment, behavior modification, family therapy, case management, targeted case management, respite, day treatment, social skills training, habilitation services, treatment planning, family education and training, and assistive communication devices. METHODS Procedure codes in the Medicaid Analytic eXtract (MAX) « other therapies » file were used to identify community-based services commonly delivered to children with a diagnosis of a primary autism spectrum disorder. RESULTS Four services are commonly used to address the core deficits of these disorders: physical and occupational therapy, speech therapy, behavior modification, and social skills training. Only six states funded all four services. CONCLUSIONS States varied considerably in use of Medicaid to reimburse these services, indicating that some states may have opportunities to receive federal matching funds.
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85. Solomon O, Lawlor MC. {{« And I look down and he is gone »: Narrating autism, elopement and wandering in Los Angeles}}. {Soc Sci Med};2013 (Oct);94:106-114.
‘Wandering’ and ‘elopement’ have been identified as common in autism, affecting half of all diagnosed children ages four to ten, yet families rarely receive advice from practitioners even after the fact. Family perspectives have been missing from the literature as well as from public health and policy debates on how and when to respond to this problem. The problem of ‘wandering’ and ‘elopement’ reveals a complex intersection of larger issues encountered by families of children with autism. To consider these issues, this article examines ‘wandering’ and ‘elopement’ from the perspectives of African American mothers of children with autism, an underrepresented group in autism research. We consider how the mothers experience these behaviors and the response to these behaviors by professionals, such as service coordinators and law enforcement personnel working within various jurisdictions that become involved with the problem. We analyze the mothers’ narratives about ‘wandering’ and ‘elopement’ drawn from ethnographic interviews that were collected between October 1, 2009 and August 31, 2012. These interviews were part of a larger project on disparities in autism diagnosis and services that followed a cohort of 25 four to ten-year old children. Drawing on narrative, phenomenological and interpretive traditions, we trace the mothers’ developing understandings of ‘wandering’ and ‘elopement’ over time, and show how these understandings become elaborated and transformed. This article provides a nuanced, moment-to-moment and longitudinal picture of the mothers’ experiences of ‘wandering’ and ‘elopement’ that enriches the cross-sectional view of large-scale surveys about the problem and contributes unique insights at the family and community levels. Implications for professional awareness, clinical practice and service provision are also suggested.
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86. Sowers LP, Loo L, Wu Y, Campbell E, Ulrich JD, Wu S, Paemka L, Wassink T, Meyer K, Bing X, El-Shanti H, Usachev YM, Ueno N, Manak RJ, Shepherd AJ, Ferguson PJ, Darbro BW, Richerson GB, Mohapatra DP, Wemmie JA, Bassuk AG. {{Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction}}. {Mol Psychiatry};2013 (Oct);18(10):1077-1089.
Autism spectrum disorders (ASDs) have been suggested to arise from abnormalities in the canonical and non-canonical Wnt signaling pathways. However, a direct connection between a human variant in a Wnt pathway gene and ASD-relevant brain pathology has not been established. Prickle2 (Pk2) is a post-synaptic non-canonical Wnt signaling protein shown to interact with post-synaptic density 95 (PSD-95). Here, we show that mice with disruption in Prickle2 display behavioral abnormalities including altered social interaction, learning abnormalities and behavioral inflexibility. Prickle2 disruption in mouse hippocampal neurons led to reductions in dendrite branching, synapse number and PSD size. Consistent with these findings, Prickle2 null neurons show decreased frequency and size of spontaneous miniature synaptic currents. These behavioral and physiological abnormalities in Prickle2 disrupted mice are consistent with ASD-like phenotypes present in other mouse models of ASDs. In 384 individuals with autism, we identified two with distinct, heterozygous, rare, non-synonymous PRICKLE2 variants (p.E8Q and p.V153I) that were shared by their affected siblings and inherited paternally. Unlike wild-type PRICKLE2, the PRICKLE2 variants found in ASD patients exhibit deficits in morphological and electrophysiological assays. These data suggest that these PRICKLE2 variants cause a critical loss of PRICKLE2 function. The data presented here provide new insight into the biological roles of Prickle2, its behavioral importance, and suggest disruptions in non-canonical Wnt genes such as PRICKLE2 may contribute to synaptic abnormalities underlying ASDs.
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87. Sprenger L, Buhler E, Poustka L, Bach C, Heinzel-Gutenbrunner M, Kamp-Becker I, Bachmann C. {{Impact of ADHD symptoms on autism spectrum disorder symptom severity}}. {Res Dev Disabil};2013 (Oct);34(10):3545-3552.
Despite the official exclusion criteria for autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) in the DSM-IV and ICD-10, patients with ASD often show ADHD symptoms. We aimed to examine the potential influence of ADHD symptoms on autistic psychopathology in a large sample of patients with ASD. We tested the hypothesis that patients with ASD and an additional ADHD (ASD+) would show a higher severity of autistic symptoms than those with ASD only (ASD-). We measured autistic symptoms using the autism diagnostic observation schedule (ADOS-G), the autism diagnostic interview (ADI-R), and the social responsiveness scale (SRS). To measure overall psychopathology and ADHD symptoms, we used the child behavior checklist (CBCL) and the ADHD rating scale (FBB-ADHS), respectively. Group differences between the ASD+ and the ASD- group (group division was conducted according to the results of the FBB-ADHS) were calculated using a univariate analysis of variance (ANOVA). The ASD+ group showed a greater severity of autistic symptoms than the ASD- group, measured by the SRS and the ADI-R. Especially in the social interaction subscale (ADI-R), a significantly higher symptom severity was found in the ASD+ group. No significant group differences were found regarding autistic symptoms measured by the ADOS-G. Patients with ASD and an additional ADHD expressed a stronger severity of autistic symptoms than patients with ASD only. According to our results, the possibility of a co-diagnosis of ADS and ADHD, as is being planned in the DSM-5, is in line with earlier studies, is highly reasonable, will simplify research, and have therapeutic implications.
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88. Stagg SD, Davis R, Heaton P. {{Associations between language development and skin conductance responses to faces and eye gaze in children with autism spectrum disorder}}. {J Autism Dev Disord};2013 (Oct);43(10):2303-2311.
Attention to social stimuli is associated with language development, and arousal is associated with the increased viewing of stimuli. We investigated whether skin conductance responses (SCRs) are associated with language development in autism spectrum disorder (ASD): a population that shows abnormalities in both attention to others and language development. A sample of 32 children with ASD (7-15 year; M = 9 year) was divided into two groups, based on language onset histories. A typically developing comparison group consisted of 18 age and IQ matched children. SCRs were taken as the participants viewed faces. SCRs differentiated the ASD group based on language onset and were associated with abnormal attention to gaze in infancy and subsequent language development.
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89. Storch EA, Sulkowski ML, Nadeau J, Lewin AB, Arnold EB, Mutch PJ, Jones AM, Murphy TK. {{The phenomenology and clinical correlates of suicidal thoughts and behaviors in youth with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Oct);43(10):2450-2459.
This study investigated the phenomenology and clinical correlates of suicidal thoughts and behaviors in youth with ASD (N = 102; range 7-16 years). The presence of suicidal thoughts and behavior was assessed through the Anxiety Disorders Interview Schedule-Child and Parent Versions. Children and parents completed measures of anxiety severity, functional impairment, and behavioral and emotional problems. Approximately 11 % of youth displayed suicidal thoughts and behaviors. Children with autism were more likely to have suicidal thoughts and behaviors whereas children with Asperger’s disorder were less likely. Suicidal thoughts and behaviors were associated with the presence of depression and post-traumatic stress disorder. Overall, results suggest that suicidal thoughts and behaviors are common in youth with ASD, and may be related to depression and trauma.
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90. Strickland DC, Coles CD, Southern LB. {{JobTIPS: A Transition to Employment Program for Individuals with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Oct);43(10):2472-2483.
This study evaluated the effectiveness of an internet accessed training program that included Theory of Mind-based guidance, video models, visual supports, and virtual reality practice sessions in teaching appropriate job interview skills to individuals with high functioning Autism Spectrum Disorders. In a randomized study, twenty-two youth, ages 16-19, were evaluated during two employment interviews. Half received a training intervention following the initial interview and the half who served as a contrast group did not. Their performance pre and post intervention was assessed by four independent raters using a scale that included evaluation of both Content and Delivery. Results suggest that youth who completed the JobTIPS employment program demonstrated significantly more effective verbal content skills than those who did not.
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91. Sun X, Allison C, Auyeung B, Matthews FE, Baron-Cohen S, Brayne C. {{The Mandarin Chinese version of the childhood autism spectrum test (CAST): Test-retest reliability}}. {Res Dev Disabil};2013 (Oct);34(10):3267-3275.
This study aimed to investigate the test-retest reliability of a Mandarin Chinese version of the Childhood Autism Spectrum Test (CAST), in a Chinese population. Parents in a school based study on the prevalence of ASC in mainland China were asked to complete a second version of the CAST approximately 2-4 months after first completion. Test retest data were available from 70 children (questionnaires completed by the same parent). Using a cut-off score of 15, the test-retest reliability was good (kappa=0.64). The test-retest reliability in three categories (</=11, 12-14, >/=15) was moderate (weighted kappa=0.53). The correlation between the scores at CAST-1 and CAST-2 was good (Spearman rho=0.73). The Mandarin CAST demonstrated moderate to good test-retest reliability as a screening instrument for ASC in an assessment sample in mainland China.
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92. Suren P, Bakken IJ, Lie KK, Schjolberg S, Aase H, Reichborn-Kjennerud T, Magnus P, Oyen AS, Svendsen BK, Aaberg KM, Andersen GL, Stoltenberg C. {{Differences across counties in the registered prevalence of autism, ADHD, epilepsy and cerebral palsy in Norway}}. {Tidsskr Nor Laegeforen};2013 (Oct 1);133(18):1929-1934.
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93. Tavassoli T, Miller LJ, Schoen SA, Nielsen DM, Baron-Cohen S. {{Sensory over-responsivity in adults with autism spectrum conditions}}. {Autism};2013 (Oct 1)
Anecdotal reports and empirical evidence suggest that sensory processing issues are a key feature of autism spectrum conditions. This study set out to investigate whether adults with autism spectrum conditions report more sensory over-responsivity than adults without autism spectrum conditions. Another goal of the study was to identify whether autistic traits in adults with and without autism spectrum conditions were associated with sensory over-responsivity. Adults with (n = 221) and without (n = 181) autism spectrum conditions participated in an online survey. The Autism Spectrum Quotient, the Raven Matrices and the Sensory Processing Scale were used to characterize the sample. Adults with autism spectrum conditions reported more sensory over-responsivity than control participants across various sensory domains (visual, auditory, tactile, olfactory, gustatory and proprioceptive). Sensory over-responsivity correlated positively with autistic traits (Autism Spectrum Quotient) at a significant level across groups and within groups. Adults with autism spectrum conditions experience sensory over-responsivity to daily sensory stimuli to a high degree. A positive relationship exists between sensory over-responsivity and autistic traits. Understanding sensory over-responsivity and ways of measuring it in adults with autism spectrum conditions has implications for research and clinical settings.
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94. Theoharides TC, Asadi S, Panagiotidou S, Weng Z. {{The « missing link » in autoimmunity and autism: Extracellular mitochondrial components secreted from activated live mast cells}}. {Autoimmun Rev};2013 (Oct);12(12):1136-1142.
Autoimmune diseases continue to increase, but the reason(s) remain obscure and infections have not proven to be major contributors. Mast cells are tissue immune cells responsible for allergies, but have been increasingly shown to be involved in innate and acquired immunity, as well as inflammation. This involvement is possible because of their ability to release multiple mediators in response to a great variety of triggers. We recently published that activation of mast cells is accompanied by mitochondrial fission and translocation to the cell surface from where they secrete at least ATP and DNA outside the cell without cell damage. These extracellular mitochondrial components are misconstrued by the body as « innate pathogens » leading to powerful autocrine and paracrine auto-immune/auto-inflammatory responses. We also showed that mitochondrial DNA is increased in the serum of young children with autism spectrum disorders (ASD), a condition that could involve « focal brain allergy/encephalitits ». Blocking the secretion of extracellular mitochondrial components could present unique possibilities for the therapy of ASD and other autoimmune diseases. Unique formulation of the flavonoid luteolin offers unique advantages.
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95. Torres EB, Isenhower RW, Yanovich P, Rehrig G, Stigler K, Nurnberger J, Jose JV. {{Strategies to develop putative biomarkers to characterize the female phenotype with autism spectrum disorders}}. {J Neurophysiol};2013 (Oct);110(7):1646-1662.
Current observational inventories used to diagnose autism spectrum disorders (ASD) apply similar criteria to females and males alike, despite developmental differences between the sexes. Recent work investigating the chronology of diagnosis in ASD has raised the concern that females run the risk of receiving a delayed diagnosis, potentially missing a window of opportunity for early intervention. Here, we retake this issue in the context of the objective measurements of natural behaviors that involve decision-making processes. Within this context, we quantified movement variability in typically developing (TD) individuals and those diagnosed with ASD across different ages. We extracted the latencies of the decision movements and velocity-dependent parameters as the hand movements unfolded for two movement segments within the reach: movements intended toward the target and withdrawing movements that spontaneously, without instruction, occurred incidentally. The stochastic signatures of the movement decision latencies and the percent of time to maximum speed differed between males and females with ASD. This feature was also observed in the empirically estimated probability distributions of the maximum speed values, independent of limb size. Females with ASD showed different dispersion than males with ASD. The distinctions found for females with ASD were better appreciated compared with those of TD females. In light of these results, behavioral assessment of autistic traits in females should be performed relative to TD females to increase the chance of detection.
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96. Travers BG, Powell PS, Mussey JL, Klinger LG, Crisler ME, Klinger MR. {{Spatial and identity cues differentially affect implicit contextual cueing in adolescents and adults with autism spectrum disorder}}. {J Autism Dev Disord};2013 (Oct);43(10):2393-2404.
The present studies examined implicit contextual cueing in adolescents and adults with Autism Spectrum Disorder (ASD). In Study 1, 16 individuals with ASD and 20 matched individuals with typical development completed a contextual cueing task using stimulus-identity cues. In Study 2, 12 individuals with ASD and 16 individuals with typical development completed a revised version of the contextual cueing task, using both stimulus-identity cues and global spatial-configuration cues. The results suggest that when only stimulus-identity cues were provided, individuals with ASD had difficulty with implicit contextual cueing (Study 1). However, when both stimulus-identity and spatial-configuration contextual cues were provided, individuals with ASD demonstrated successful contextual cueing (Study 2). Nuances in implicit learning and clinical implications are discussed.
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97. Vacek JL, Hunt SL, Shireman T. {{Hypertension medication use and adherence among adults with developmental disability}}. {Disabil Health J};2013 (Oct);6(4):297-302.
BACKGROUND/OBJECTIVE: Adults with developmental disability (DD) have high prevalence of coronary artery disease risk factors, as well as impediments to optimal diagnosis and management. We analyzed antihypertensive medication (AM) use and adherence patterns in a Kansas Medicaid cohort. METHODS: We studied adults (18-64 years) with DD and claims for HT from 7/1/05 to 8/31/06, with review of prescription records of AM use and adherence from 9/1/06 to 8/31/07. Adherence was calculated as proportion of days covered (PDC). RESULTS: Of 3079 eligible people, 280 (9%) had claims for HT: 51% male, mean age 42 +/- 13, and 81% Caucasian. Of these, 280 (72%) had claims for at least 1 AM; 57% received >/=2 AM. Angiotensin converting enzyme inhibitor/angiotensin receptor blockers were most commonly prescribed (65%) followed by diuretics (50%), beta blockers (34%), and calcium channel blockers (26%). Mean PDCs by class ranged from 0.622 to 0.693: 55% had a PDC >/=0.80, a common goal for adherence. Younger individuals were more likely to be adherent (p <0.05), but adherence was not significantly associated with comorbid conditions, gender, or race. CONCLUSIONS: Of our cohort of adults with DD, 9% had HT of whom 72% submitted claims for AMs. A substantial proportion of subjects had inconsistent AM use suggesting suboptimal therapy. The association between younger ages and higher adherence may reflect better community-based support for younger adults. Further work is needed to identify barriers to optimal care for this vulnerable population.
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98. Vogeley K, Kirchner JC, Gawronski A, van Elst LT, Dziobek I. {{Toward the development of a supported employment program for individuals with high-functioning autism in Germany}}. {Eur Arch Psychiatry Clin Neurosci};2013 (Sep 28)
Human-human interactions are of central relevance for the success in professional and occupational environments, which also substantially influence quality of life. This is especially true in the case of individuals with high-functioning autism (HFA), who experience deficits in social cognition that often lead to social exclusion and unemployment. Despite good education and high motivation, individuals with HFA do not reach employment rates that are substantially higher than 50 %. This is an alarmingly high rate of unemployment considering that the United Nations have recently emphasized the inclusion of handicapped persons as a mandatory human right. To date, the specific needs of autistic persons with respect to their working environment are largely unexplored. It remains moreover an open question how support systems and activities, including newly developed communication devices for professional environments of individuals with HFA, should look like. The German health and social care systems are not adequately prepared for the proper support of this population. This leads us to suggest that supported employment programs should be developed for adults with HFA that specifically address their needs and requirements. Such programs should comprise (1) the adequate assessment of HFA, including a neuropsychological profile and an individual matching of persons’ preferences with requirements of the working place, (2) on-the-job coaching activities that include systematic communication and interaction training, and (3) instruction of non-autistic peers, including colleagues and supervisors, about weaknesses and strengths of HFA.
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99. Volaki K, Pampanos A, Kitsiou-Tzeli S, Vrettou C, Oikonomakis V, Sofocleous C, Kanavakis E. {{Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism}}. {Psychiatr Genet};2013 (Oct);23(5):198-203.
Molecular and neurobiological evidence for the involvement of neuroligins (particularly NLGN3 and NLGN4X genes) in autistic disorder is accumulating. However, previous mutation screening studies on these two genes have yielded controversial results. The present study explores, for the first time, the contribution of NLGN3 and NLGN4X genetic variants in Greek patients with autistic disorder. We analyzed the full exonic sequence of NLGN3 and NLGN4X genes in 40 patients strictly fulfilling the Diagnostic and Statistical Manual of Mental Disorders, 4th ed. criteria for autistic disorder. We identified nine nucleotide changes in NLGN4X – one probable causative mutation (p.K378R) previously reported by our research group, one novel variant (c.-206G>C), one nonvalidated single nucleotide polymorphism (SNP, rs111953947), and six known human SNPs reported in the SNP database – and one known human SNP in NLGN3 also reported in the SNP database. The variants identified are expected to be benign. However, they should be investigated in the context of variants in interacting cellular pathways to assess their contribution to the etiology of autism.
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100. Vorsanova SG, Iurov, II, Kurinnaia OS, Voinova VI, Iurov IB. {{[Genomic abnormalities in children with mental retardation and autism: the use of comparative genomic hybridization in situ (HRCGH) and molecular karyotyping with DNA-microchips (array CGH).]}}. {Zh Nevrol Psikhiatr Im S S Korsakova};2013;113(8):46-49.
Genomic abnormalities occur with high frequency in children with mental retardation and autistic spectrum disorders (ADS). Molecular karyotyping using DNA microarrays is a new technology for diagnosis of genomic and chromosomal abnormalities in autism implemented in the fields of biological psychiatry and medical genetics. We carried out a comparative analysis of the frequency and spectrum of genome abnormalities in children with mental retardation and autism of unknown etiology using high-resolution comparative genomic methods for hybridization (HRCGH) and molecular karyotyping (array CGH). In a study of 100 children with autism, learning difficulties and congenital malformations by HRCGH, we identified genomic rearrangements in 46% of cases. Using array CGH we examined 50 children with autism. In 44 cases out of 50 (88%), different genomic abnormalities and genomic variations (CNV – copy number variations) were identified. Unbalanced genomic rearrangements, including deletions and duplications, were found in 23 cases out of 44 (52%). These data suggest that genomic abnormalities which are not detectable by common methods of chromosome analysis are often discovered by molecular cytogenetic techniques in children autism spectrum disorders. In addition, 54 children with idiopathic mental retardation and congenital malformations (31 boys and 23 girls) without autism spectrum disorders were examined using molecular karyotyping and microarray containing an increased number of DNA samples for genomic loci of chromosome X. Deletions and duplications affecting different regions of the chromosome X were detected in 11 out of 54 children (20.4%).
101. Wainer AL, Block N, Donnellan MB, Ingersoll B. {{The Broader Autism Phenotype and Friendships in Non-clinical Dyads}}. {J Autism Dev Disord};2013 (Oct);43(10):2418-2425.
The broader autism phenotype (BAP) is a set of subclinical traits qualitatively similar to those observed in autism spectrum disorders. The current study sought to elucidate the association between self- and informant-reports of the BAP and friendships, in a non-clinical sample of college student dyads. Self-informant agreement of the BAP and friendship similarity was evaluated, and the Actor-Partner Interdependence Model was used to test how both friends’ BAP characteristics jointly and uniquely contribute to the experiences of friendships. Results suggest self-informant agreement about the BAP, friendship closeness, quality, and conflict. Actor effects were observed for the BAP and friendship values, quality, conflict, and loneliness. Findings suggest that the BAP relates in meaningful ways to self-perceptions of friendship variables in the general population.
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102. Walsh JA, Vida MD, Rutherford MD. {{Strategies for Perceiving Facial Expressions in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Sep 29)
Rutherford and McIntosh (J Autism Dev Disord 37:187-196, 2007) demonstrated that individuals with autism spectrum disorder (ASD) are more tolerant than controls of exaggerated schematic facial expressions, suggesting that they may use an alternative strategy when processing emotional expressions. The current study was designed to test this finding using photographs of real people. In addition, two control tasks were added to eliminate alternative explanations. We replicated the findings of Rutherford and McIntosh (J Autism Dev Disord 37:187-196, 2007) and also demonstrated that adults with ASD do not show this tolerance when evaluating how realistic the expressions are. These results suggest adults with ASD employ a rule-based strategy to a greater extent than typical adults when processing facial expressions but not when processing other aspects of faces.
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103. Wang CC, Lin HC, Chan YH, Gean PW, Yang YK, Chen PS. {{5-HT1A-receptor agonist modified amygdala activity and amygdala-associated social behavior in a valproate-induced rat autism model}}. {Int J Neuropsychopharmacol};2013 (Oct);16(9):2027-2039.
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104. Wang M, Fan X, Wang T, Wu J. {{High-throughput sequencing of autism spectrum disorders comes of age}}. {Genet Res (Camb)};2013 (Aug);95(4):121-129.
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105. Winder BM, Wozniak RH, Parlade MV, Iverson JM. {{Spontaneous initiation of communication in infants at low and heightened risk for autism spectrum disorders}}. {Dev Psychol};2013 (Oct);49(10):1931-1942.
Communication spontaneously initiated by infants at heightened risk (HR; n = 15) for autism spectrum disorders (ASD) is compared with that in low-risk (LR; n = 15) infants at 13 and 18 months of age. Infants were observed longitudinally during naturalistic in-home interaction and semistructured play with caregivers. At both ages, HR infants spontaneously produced Words, Communicative Non-Word Vocalizations, show and point Gestures, and Gesture + Non-Word Vocalization combinations at lower rates than LR peers. This difference also held for Gesture + Word combinations at 18 but not 13 months. At 36 months, all HR children were evaluated for ASD, and 3 received a diagnosis of autistic disorder. At both 13 and 18 months, these 3 children had been at or near the bottom of the distribution on all spontaneous communication variables. (PsycINFO Database Record (c) 2013 APA, all rights reserved).
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106. Youssef J, Singh K, Huntington N, Becker R, Kothare SV. {{Relationship of serum ferritin levels to sleep fragmentation and periodic limb movements of sleep on polysomnography in autism spectrum disorders}}. {Pediatr Neurol};2013 (Oct);49(4):274-278.
OBJECTIVE: Although children with autism spectrum disorders experience a range of sleep disturbances, exact mechanisms are not well-characterized. We investigated the association of serum-ferritin to sleep fragmentation and periodic limb movements of sleep using polysomnography in children with autism spectrum disorders. METHODS: We conducted a retrospective chart review of children with autism spectrum disorders followed from 1990 to 2010. Inclusion criteria were availability of polysomnography data and ferritin levels within 12 months of each other. The following variables on polysomnography characterized sleep fragmentation: increased arousal index, alpha intrusions, and reduced sleep efficiency. The data were compared with age- and gender-matched controls. RESULTS: Of 9791 children with autism spectrum disorders identified, 511 had a ferritin level, 377 had polysomnography data, and 53 had both ferritin and polysomnography data. As compared with the controls (86 ng/mL), the median ferritin level was 27 ng/mL in the study autism spectrum disorders population (53 patients) (P < 0.01), 27 ng/mL in autism spectrum disorder subjects with periodic limb movements of sleep (25 patients) (P = 0.01), and 24 ng/mL in autism spectrum disorders subjects with sleep fragmentation (21 patients) (P = 0.02). Within the autism spectrum disorders population, median ferritin levels were significantly lower in patients with poor sleep efficiency (7 ng/mL) versus those with normal sleep efficiency (29 ng/mL) (P = 0.01). The prevalence of periodic limb movements of sleep was 47% in autism spectrum disorders compared with 8% in controls (P < 0.01). CONCLUSION: Children with autism spectrum disorders had significantly lower ferritin levels compared with controls. In addition, they experience a higher prevalence of sleep fragmentation, obstructive sleep apnea, and periodic limb movements of sleep than children with ASD and no sleep complaints. Our preliminary observations, which have not been described before, need to be validated in multicenter prospective studies.
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107. Zalla T, Labruyere N, Georgieff N. {{Perceiving goals and actions in individuals with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Oct);43(10):2353-2365.
In the present study, we investigated the ability to parse familiar sequences of action into meaningful events in young individuals with autism spectrum disorders (ASDs), as compared to young individuals with typical development (TD) and young individuals with moderate mental retardation or learning disabilities (MLDs). While viewing two videotaped movies, participants were requested to detect the boundary transitions between component events at both fine and coarse levels of the action hierarchical structure. Overall, reduced accuracy for event detection was found in participants with ASDs, relative to participants with TD, at both levels of action segmentation. The performance was, however, equally diminished in participants with ASDs and MLDs under the course-grained segmentation suggesting that difficulties to detect fine-grained events in ASDs cannot be explained by a general intellectual dysfunction. Reduced accuracy for event detection was related to diminished event recall, memory for event sequence and Theory of Mind abilities. We hypothesized that difficulties with event detection result from a deficit disrupting the on-line processing of kinematic features and physical changes of dynamic human actions. An impairment at the earlier stages of the event encoding process might contribute to deficits in episodic memory and social functioning in individuals with ASDs.
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108. Ziats MN, Rennert OM. {{The cerebellum in autism: pathogenic or an anatomical beacon?}}. {Cerebellum};2013 (Oct);12(5):776-777.
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109. Zurawicz E, Kaluzna-Czaplinska J, Rynkowski J. {{Chromatographic methods in the study of autism}}. {Biomed Chromatogr};2013 (Oct);27(10):1273-1279.
Research into biomarkers of autism is a new means of medical intervention in this disease. Chromatographic techniques, especially coupled with mass spectrometry, are widely used in determination of biomarkers and assessment of effectiveness of autism therapy owing to their sensitivity and selectivity. Among the chromatographic techniques gas chromatography and liquid chromatography, especially high-performance liquid chromatography, have found application in clinical trials. The high-performance liquid chromatography technique allows an analysis of liquid samples with a wide range of molecules, small and large, providing an opportunity to perform advanced assays within a short time frame. Gas chromatography with the appropriate preparation of samples (gaseous and liquid) and a selection of analysis conditions enables the separation of thermally stable, volatile and non-volatile organic substances in short runtimes. The chromatographic techniques that are currently used in metabolic studies in autism are designed to identify abnormalities in three areas: the metabolism of neurotransmitters, nutritional and metabolic status and manifestations of oxidative stress. This review presents a necessary theoretical introduction and examples of applications of chromatographic studies of disorder markers in autism. Copyright (c) 2013 John Wiley & Sons, Ltd.
