1. {{Extending trust. A report of a potential therapy for some of the social behavior patterns associated with autism highlights the need for a societal dialog to discuss the ethical issues raised by these treatments}}. {Nat Neurosci} (Aug);13(8):905.
2. Agam Y, Joseph RM, Barton JJ, Manoach DS. {{Reduced cognitive control of response inhibition by the anterior cingulate cortex in autism spectrum disorders}}. {Neuroimage} (Aug 1);52(1):336-347.
Response inhibition, or the suppression of prepotent, but contextually inappropriate behaviors, is essential to adaptive, flexible responding. In autism spectrum disorders (ASD), difficulty inhibiting prepotent behaviors may contribute to restricted, repetitive behavior (RRB). Individuals with ASD consistently show deficient response inhibition while performing antisaccades, which require one to inhibit the prepotent response of looking towards a suddenly appearing stimulus (i.e., a prosaccade), and to substitute a gaze in the opposite direction. Here, we used fMRI to identify the neural correlates of this deficit. We focused on two regions that are critical for saccadic inhibition: the frontal eye field (FEF), the key cortical region for generating volitional saccades, and the dorsal anterior cingulate cortex (dACC), which is thought to exert top-down control on the FEF. We also compared ASD and control groups on the functional connectivity of the dACC and FEF during saccadic performance. In the context of an increased antisaccade error rate, ASD participants showed decreased functional connectivity of the FEF and dACC and decreased inhibition-related activation (based on the contrast of antisaccades and prosaccades) in both regions. Decreased dACC activation correlated with a higher error rate in both groups, consistent with a role in top-down control. Within the ASD group, increased FEF activation and dACC/FEF functional connectivity were associated with more severe RRB. These findings demonstrate functional abnormalities in a circuit critical for volitional ocular motor control in ASD that may contribute to deficient response inhibition and to RRB. More generally, our findings suggest reduced cognitive control over behavior by the dACC in ASD.
3. Akechi H, Senju A, Kikuchi Y, Tojo Y, Osanai H, Hasegawa T. {{The effect of gaze direction on the processing of facial expressions in children with autism spectrum disorder: an ERP study}}. {Neuropsychologia} (Aug);48(10):2841-2851.
This study investigated the neural basis of the effect of gaze direction on facial expression processing in children with and without ASD, using event-related potential (ERP). Children with ASD (10-17-year olds) and typically developing (TD) children (9-16-year olds) were asked to determine the emotional expressions (anger or fearful) of a facial stimulus with a direct or averted gaze, and the ERPs were recorded concurrently. In TD children, faces with a congruent expression and gaze direction in approach-avoidance motivation, such as an angry face with a direct gaze (i.e., approaching motivation) and a fearful face with an averted gaze (i.e., avoidant motivation), were recognized more accurately and elicited larger N170 amplitudes than motivationally incongruent facial stimuli (an angry face with an averted gaze and a fearful face with a direct gaze). These results demonstrated the neural basis and time course of integration of facial expression and gaze direction in TD children and its impairment in children with ASD.
4. Arpino C, Sinibaldi Vallebona P, Gaudi S, Rezza G. {{Polyomaviruses and autism: more than simple association?}}. {J Neurovirol} (Aug);16(4):330-331; author reply 332-333.
5. Baker JK, Messinger DS, Lyons KK, Grantz CJ. {{A pilot study of maternal sensitivity in the context of emergent autism}}. {J Autism Dev Disord} (Aug);40(8):988-999.
Unstructured mother-toddler interactions were examined in 18-month-old high- and low-risk children subsequently diagnosed (n = 12) or not diagnosed (n = 21) with autism spectrum disorders (ASD) at 36 months. Differences in maternal sensitivity were not found as a function of emergent ASD status. A differential-susceptibility moderation model of child risk guided investigations linking maternal sensitivity to child behavior and language growth. Group status moderated the relation between sensitivity and concurrent child behavior problems, with a positive association present for children with emergent ASD. Maternal sensitivity at 18 months predicted expressive language growth from age 2 to 3 years among children with emergent ASD only. Findings underscore the importance of understanding parent-child interaction during this key period in the development of autism symptomatology.
6. Bandini LG, Anderson SE, Curtin C, Cermak S, Evans EW, Scampini R, Maslin M, Must A. {{Food selectivity in children with autism spectrum disorders and typically developing children}}. {J Pediatr} (Aug);157(2):259-264.
OBJECTIVES: To define food selectivity and compare indices of food selectivity among children with autism spectrum disorders (ASDs) and typically developing children, and to assess the impact of food selectivity on nutrient adequacy. STUDY DESIGN: Food selectivity was operationalized to include food refusal, limited food repertoire, and high-frequency single food intake using a modified food frequency questionnaire and a 3-day food record. Food selectivity was compared between 53 children with ASDs and 58 typically developing children age 3-11 years. Nutrient adequacy was assessed relative to the dietary reference intakes. RESULTS: The children with ASDs exhibited more food refusal than typically developing children (41.7% of foods offered vs 18.9% of foods offered; P <.0001). They also had a more limited food repertoire (19.0 foods vs 22.5 foods; P <.001). Only 4 children with ASDs and 1 typically developing child demonstrated high-frequency single food intake. Children with a more limited food repertoire had inadequate intake of a greater number of nutrients. CONCLUSIONS: Our findings suggest that food selectivity is more common in children with ASDs than in typically developing children, and that a limited food repertoire may be associated with nutrient inadequacies.
7. Cannell JJ. {{On the aetiology of autism}}. {Acta Paediatr} (Aug);99(8):1128-1130.
8. Christensen L, Hutman T, Rozga A, Young GS, Ozonoff S, Rogers SJ, Baker B, Sigman M. {{Play and developmental outcomes in infant siblings of children with autism}}. {J Autism Dev Disord} (Aug);40(8):946-957.
We observed infant siblings of children with autism later diagnosed with ASD (ASD siblings; n = 17), infant siblings of children with autism with and without other delays (Other Delays and No Delays siblings; n = 12 and n = 19, respectively) and typically developing controls (TD controls; n = 19) during a free-play task at 18 months of age. Functional, symbolic, and repeated play actions were coded. ASD siblings showed fewer functional and more non-functional repeated play behaviors than TD controls. Other Delays and No Delays siblings showed more non-functional repeated play than TD controls. Group differences disappeared with the inclusion of verbal mental age. Play as an early indicator of autism and its relationship to the broader autism phenotype is discussed.
9. Cortesi F, Giannotti F, Ivanenko A, Johnson K. {{Sleep in children with autistic spectrum disorder}}. {Sleep Med} (Aug);11(7):659-664.
Children and adolescents with autistic spectrum disorders (ASD) suffer from sleep problems, particularly insomnia, at a higher rate than typically developing children, ranging from 40% to 80%. Sleep problems in ASD might occur as a result of complex interactions between biological, psychological, social/environmental, and family factors, including child rearing practices that are not conducive to good sleep. Interestingly, children with a history of developmental regression have a more disturbed sleep pattern than children without regression. Even though regulation of sleep in children with ASD is still poorly understood, circadian abnormalities in autism might be the result of genetic abnormalities related to melatonin synthesis and melatonin’s role in modulating synaptic transmission. Recently a bifurcation of the sleep/wake cycle with increased sensitivity to external noise and short sleep duration causing irregular sleep onset and wake up times has been suggested. Identifying and treating sleep disorders may result not only in improved sleep, but also impact favorably on daytime behavior and family functioning. Several studies have also demonstrated effectiveness of behavioral interventions for sleep onset and maintenance problems in these populations. When behavioral interventions are not effective or lead only to a partial response, pharmacological treatment options should be considered. Studies of melatonin use in children with ASD provide evidence for its effectiveness and safety in the long run. The clinician assessing a child with an ASD should screen carefully for sleep disorders and make referrals as indicated.
10. De Felice C, Guazzi G, Rossi M, Ciccoli L, Signorini C, Leoncini S, Tonni G, Latini G, Valacchi G, Hayek J. {{Unrecognized lung disease in classic Rett syndrome: a physiologic and high-resolution CT imaging study}}. {Chest} (Aug);138(2):386-392.
BACKGROUND: Breathing disorders in Rett Syndrome (RS) have been generally attributed to severe autonomic and/or brain stem dysfunction, and, to our knowledge, no information regarding lung morphologic characteristics exists to date. The aim of the present study was to determine if there are RS-associated pulmonary abnormalities. METHODS: A total of 27 female subjects (age, M +/- SD: 12.6 +/- 5.9 y; age range: 3-32 y) with gene-encoding, methyl-CpG-binding-protein-2-mutation-confirmed RS underwent high-resolution CT (HRCT) scans of the thorax. A volumetric acquisition was used, and isotropic data sets were acquired with thin collimation (< 1-mm slice), scanning through the lungs and processing on a high-spatial-resolution kernel (bony algorithm). RESULTS: Abnormal HRCT scan findings were observed in 15 of 27 (55.5%) cases, consisting of centrilobular nodules (10/15, 66.7%), thickening of the bronchial walls (8/15, 53.33%), and patchy ground-glass opacities (4/15, 26.7%), with upper lobe predominance. In addition, bronchiolectasis were found in nine of 15 (60%) patients. CONCLUSIONS: Pulmonary lesions, respiratory bronchiolitis-associated interstitial lung disease-like lesions, are present on imaging studies in about half of typical patients with RS. Further research is needed to clarify the epidemiologic characteristics and the pathogenesis of these previously unrecognized pulmonary abnormalities.
11. de Vries AL, Noens IL, Cohen-Kettenis PT, van Berckelaer-Onnes IA, Doreleijers TA. {{Autism spectrum disorders in gender dysphoric children and adolescents}}. {J Autism Dev Disord} (Aug);40(8):930-936.
Only case reports have described the co-occurrence of gender identity disorder (GID) and autism spectrum disorders (ASD). This study examined this co-occurrence using a systematic approach. Children and adolescents (115 boys and 89 girls, mean age 10.8, SD = 3.58) referred to a gender identity clinic received a standardized assessment during which a GID diagnosis was made and ASD suspected cases were identified. The Dutch version of the Diagnostic Interview for Social and Communication Disorders (10th rev., DISCO-10) was administered to ascertain ASD classifications. The incidence of ASD in this sample of children and adolescents was 7.8% (n = 16). Clinicians should be aware of co-occurring ASD and GID and the challenges it generates in clinical management.
12. Dichter GS, Sikich L, Mahorney S, Felder JN, Lam KS, Turner-Brown L, Bodfish J. {{fMRI tracks reductions in repetitive behaviors in autism: two case studies}}. {Neurocase} (Aug);16(4):307-316.
Autism is characterized by abnormal prefrontal brain activation during cognitive control, a potential biomarker of repetitive behaviors. In this proof-of-principle study, functional magnetic resonance imaging (fMRI) was used to examine brain activity during an oddball task in two high-functioning males with autism before and after 12 weeks of treatment with citalopram, a selective serotonin reuptake inhibitor. One participant showed marked reductions in repetitive behaviors whereas the other showed mild worsening. Brain activation in relevant prefrontal regions increased in only the participant whose repetitive behavior symptoms improved. These findings suggest that fMRI may elucidate potential mechanisms of action of targeted autism interventions.
13. dos Santos PA, Longo D, Brandalize AP, Schuler-Faccini L. {{MTHFR C677T is not a risk factor for autism spectrum disorders in South Brazil}}. {Psychiatr Genet} (Aug);20(4):187-189.
Many studies have suggested that autism may be associated with metabolic abnormalities in the folate/homocysteine pathway, which is involved in DNA methylation, thus altering gene expression. One of the most important polymorphisms in this pathway is C677T of the methylenetetrahydrofolate reductase gene, because the T allele is associated with a decrease in enzymatic activity. We evaluated the association between C677T polymorphism and autism spectrum disorders through a case–control study. In addition, we analyzed the influence of this polymorphism on certain autistic behaviors like complex body movements, self-injury and averted gaze according to the Autism Diagnostic Interview-Revised. The analyses involved 151 children with idiopathic autism spectrum disorder and 100 healthy control children. The frequency of the T allele was 0.38 for the case group and 0.35 for the control group (P=0.77). The genotypic distribution did not show significant differences between cases and controls (P=0.72), nor association between the T allele and selected behaviors.
14. Emond A, Emmett P, Steer C, Golding J. {{Feeding symptoms, dietary patterns, and growth in young children with autism spectrum disorders}}. {Pediatrics} (Aug);126(2):e337-342.
OBJECTIVE: To investigate the feeding, diet and growth of young children with autism spectrum disorders (ASD). METHOD: Data on feeding and food frequency were collected by questionnaires completed at 6, 15, 24, 38 and 54 months by participants in the Avon Longitudinal Study of Parents and Children. A food variety score was created, and the content of the diet was calculated at 38 m. The feeding and dietary patterns of 79 children with ASD were compared with 12 901 controls. RESULTS: The median ages of ASD children were 28 months at referral and 45 months at diagnosis. ASD infants showed late introduction of solids after 6 months (p = .004) and were described as « slow feeders » at 6 months (p = .04). From 15-54 months ASD children were consistently reported to be « difficult to feed » (p < .001) and « very choosy » (p < .001). From 15 months, the ASD group had a less varied diet than controls, were more likely to have different meals from their mother from 24 months, and by 54 months 8% of ASD children were taking a special diet for « allergy. » ASD children consumed less vegetables, salad and fresh fruit, but also less sweets and fizzy drinks. At 38 months intakes of energy, total fat, carbohydrate and protein were similar, but the ASD group consumed less vitamins C (p = .02) and D (p = .003). There were no differences in weight, height or BMI at 18 months and 7 years, or in hemoglobin concentrations at 7 years. CONCLUSIONS: ASD children showed feeding symptoms from infancy and had a less varied diet from 15 months, but energy intake and growth were not impaired.
15. Enticott PG, Rinehart NJ, Tonge BJ, Bradshaw JL, Fitzgerald PB. {{A preliminary transcranial magnetic stimulation study of cortical inhibition and excitability in high-functioning autism and Asperger disorder}}. {Dev Med Child Neurol} (Aug);52(8):e179-183.
AIM: Controversy surrounds the distinction between high-functioning autism (HFA) and Asperger disorder, but motor abnormalities are associated features of both conditions. This study examined motor cortical inhibition and excitability in HFA and Asperger disorder using transcranial magnetic stimulation (TMS). METHOD: Participants were diagnosed by experienced clinicians strictly according to DSM-IV criteria. Participants with HFA (nine males, two females; mean age 16y 8mo, SD 4y 5mo) or Asperger disorder (11 males, three females; mean age 19y 1mo, SD 4y 2mo) and neurotypical participants (eight males, three females; mean age 19y 0mo, SD 3y 1mo) were administered a paired-pulse TMS paradigm intended to assess motor cortical inhibition and excitability. Responses to TMS were recorded by electromyography. RESULTS: Cortical inhibition was significantly reduced in the HFA group compared with both the Asperger disorder (p<0.001) and neurotypical (p<0.001) groups, suggesting disruption of activity at gamma-aminobutyric acid A (GABA(A)) receptors. There was no group difference in cortical excitability. INTERPRETATION: Cortical inhibition deficits may underlie motor dysfunction in autism, and perhaps even relate to specific clinical symptoms (e.g. repetitive behaviours). These findings provide novel evidence for a possible neurobiological dissociation between HFA and Asperger disorder based on GABAergic function.
16. Fabricius T. {{The Savant Hypothesis: is autism a signal-processing problem?}}. {Med Hypotheses} (Aug);75(2):257-265.
Autism is being investigated through many different approaches. This paper suggests the genetic, perceptual, cognitive, and histological findings ultimately manifest themselves as variations of the same signal-processing problem of defective compression. The Savant Hypothesis is formulated from first principles of both mathematical signal-processing and primary neuroscience to reflect the failure of compression. The Savant Hypothesis is applied to the problem of autism in a surprisingly straightforward application. The enigma of the autistic savant becomes intuitive when observed from this approach.
17. Fendri-Kriaa N, Mkaouar-Rebai E, Moalla D, Belguith N, Louhichi N, Zemni R, Slama F, Triki C, Fakhfakh F. {{Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation}}. {J Child Neurol} (Aug);25(8):1042-1046.
Rett syndrome is a severe disorder characterized by loss of acquired skills after a period of normal development in infant girls. It is caused mainly by mutations in the MECP2 gene. In this study, we reported mutations in the MECP2 gene in 7 Tunisian patients with classic Rett syndrome. The results showed the presence of a double mutation in 1 patient: p.R306C and c.1461+98insA, which create a new hypothetical polyadenylation site in the 3(‘)UTR of the MECP2 gene. We also detected in another patient a new variant c.1461+92C>G in the 3(‘)UTR located previous to 34 bp from the polyadenylation site with a score of 4.085. This variation is located in a hypothetical splicing enhancer with a score of 1.96277 according to the ESE finder program. In the remaining 5 patients, we found 2 common mutations: p.T158M in 4 individuals and p.R168X in only 1 girl.
18. Foley Nicpon M, Doobay AF, Assouline SG. {{Parent, teacher, and self perceptions of psychosocial functioning in intellectually gifted children and adolescents with autism spectrum disorder}}. {J Autism Dev Disord} (Aug);40(8):1028-1038.
Parent, teacher, and self-perceptions of 54 high ability students with autism spectrum disorder (ASD) were assessed through administration of the Behavioral Assessment Scales for Children, Second Edition. Parent reports resulted in clinically elevated scores on the Atypicality, Attention Problems, Depression, Hyperactivity, Withdrawal, Activities of Daily Living, Adaptability, and Social Skills subscales, and teacher reports resulted in clinically elevated scores on the Atypicality, Depression, Withdrawal, and Adaptability subscales. Self-report scores were in the average range. Parents and teachers of adolescents reported greater adaptability and fewer symptoms of atypicality than parents and teachers of children. Psychosocial functioning appears impacted in high ability students with ASD and developmental differences in severity may exist.
19. Grafodatskaya D, Chung B, Szatmari P, Weksberg R. {{Autism spectrum disorders and epigenetics}}. {J Am Acad Child Adolesc Psychiatry} (Aug);49(8):794-809.
OBJECTIVE: Current research suggests that the causes of autism spectrum disorders (ASD) are multifactorial and include both genetic and environmental factors. Several lines of evidence suggest that epigenetics also plays an important role in ASD etiology and that it might, in fact, integrate genetic and environmental influences to dysregulate neurodevelopmental processes. The objective of this review is to illustrate how epigenetic modifications that are known to alter gene expression without changing primary DNA sequence may play a role in the etiology of ASD. METHOD: In this review, we summarize current knowledge about epigenetic modifications to genes and genomic regions possibly involved in the etiology of ASD. RESULTS: Several genetic syndromes comorbid with ASD, which include Rett, Fragile X, Prader-Willi, Angelman, and CHARGE (Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness), all demonstrate dysregulation of epigenetic marks or epigenetic mechanisms. We report also on genes or genomic regions exhibiting abnormal epigenetic regulation in association with either syndromic (15q11-13 maternal duplication) or nonsyndromic forms of ASD. Finally, we discuss the state of current knowledge regarding the etiologic role of environmental factors linked to both the development of ASD and epigenetic dysregulation. CONCLUSION: Data reviewed in this article highlight a variety of situations in which epigenetic dysregulation is associated with the development of ASD, thereby supporting a role for epigenetics in the multifactorial etiologies of ASD.
20. Groen WB, Tesink C, Petersson KM, van Berkum J, van der Gaag RJ, Hagoort P, Buitelaar JK. {{Semantic, factual, and social language comprehension in adolescents with autism: an FMRI study}}. {Cereb Cortex} (Aug);20(8):1937-1945.
Language in high-functioning autism is characterized by pragmatic and semantic deficits, and people with autism have a reduced tendency to integrate information. Because the left and right inferior frontal (LIF and RIF) regions are implicated with integration of speaker information, world knowledge, and semantic knowledge, we hypothesized that abnormal functioning of the LIF and RIF regions might contribute to pragmatic and semantic language deficits in autism. Brain activation of sixteen 12- to 18-year-old, high-functioning autistic participants was measured with functional magnetic resonance imaging during sentence comprehension and compared with that of twenty-six matched controls. The content of the pragmatic sentence was congruent or incongruent with respect to the speaker characteristics (male/female, child/adult, and upper class/lower class). The semantic- and world-knowledge sentences were congruent or incongruent with respect to semantic expectancies and factual expectancies about the world, respectively. In the semantic-knowledge and world-knowledge condition, activation of the LIF region did not differ between groups. In sentences that required integration of speaker information, the autism group showed abnormally reduced activation of the LIF region. The results suggest that people with autism may recruit the LIF region in a different manner in tasks that demand integration of social information.
21. Guttmann-Steinmetz S, Gadow KD, DeVincent CJ, Crowell J. {{Anxiety symptoms in boys with autism spectrum disorder, attention-deficit hyperactivity disorder, or chronic multiple tic disorder and community controls}}. {J Autism Dev Disord} (Aug);40(8):1006-1016.
We compared symptoms of generalized anxiety disorder (GAD) and separation anxiety disorder (SAD) in 5 groups of boys with neurobehavioral syndromes: attention-deficit/hyperactivity disorder (ADHD) plus autism spectrum disorder (ASD), ADHD plus chronic multiple tic disorder (CMTD), ASD only, ADHD only, and community Controls. Anxiety symptoms were assessed using parent and teacher versions of a DSM-IV-referenced rating scale. All three groups of boys with co-morbid ADHD evidenced more severe anxiety than Controls. Group differences in anxiety varied as a function of symptom, disorder, informant, and co-morbidity supporting the notion that co-morbid neurobehavioral syndromes differentially impact clinical features of co-occurring anxiety symptoms. Findings also suggest that GAD and SAD are phenomenologically unique, even in children with ASD. Implications for nosology are discussed.
22. Hilton CL, Harper JD, Kueker RH, Lang AR, Abbacchi AM, Todorov A, LaVesser PD. {{Sensory responsiveness as a predictor of social severity in children with high functioning autism spectrum disorders}}. {J Autism Dev Disord} (Aug);40(8):937-945.
This study examines the relationship between sensory responsiveness and social severity in children with high functioning autism spectrum disorders (HFASD; N = 36) and age-matched controls (N = 26) between 6 and 10 years old. Significant relationships were found between social responsiveness scale scores and each of the six sensory profile sensory system scores for children with HFASD and controls. Multivariate regression analyses revealed atypical scores from multisensory responsiveness, and responsiveness of the proximal senses of oral sensory/olfactory and touch as the strongest predictors of greater social impairment in the participants. Findings suggest that the relationship between sensory responsiveness and other autistic traits is more important than previously recognized and addressing sensory modulation issues in children with HFASD may be more critical than previously understood.
23. Huang XL, Zou YS, Maher TA, Newton S, Milunsky JM. {{A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism}}. {Am J Med Genet A} (Aug);152A(8):2112-2114.
24. Indredavik MS. {{Extremely preterm children at increased risk of autism spectrum disorders}}. {Evid Based Ment Health} (Aug);13(3):92.
25. Ingersoll B, Lalonde K. {{The impact of object and gesture imitation training on language use in children with autism spectrum disorder}}. {J Speech Lang Hear Res} (Aug);53(4):1040-1051.
PURPOSE: Reciprocal imitation training (RIT) is a naturalistic behavioral intervention that teaches imitation to children with autism spectrum disorder (ASD) within a social-communicative context. RIT has been shown to be effective at teaching spontaneous, generalized object and gesture imitation. In addition, improvements in imitation are associated with increases in verbal imitation and spontaneous language. METHOD: This study used a modified multiple-baseline design across 4 children to examine whether adding gesture imitation training improves the overall rate of appropriate language use in children with ASD who have already been participating in object imitation training. RESULTS: Three of the 4 children showed greater improvements in their use of appropriate language after gesture imitation was begun. Further, the children were more likely to use verbal imitation during gesture imitation training than during object imitation training. CONCLUSION: These findings suggest that adding gesture imitation training to object imitation training can lead to greater gains in rate of language use than object imitation alone. Implications for both language development and early intervention are discussed.
26. Kamp-Becker I, Smidt J, Ghahreman M, Heinzel-Gutenbrunner M, Becker K, Remschmidt H. {{Categorical and dimensional structure of autism spectrum disorders: the nosologic validity of Asperger Syndrome}}. {J Autism Dev Disord} (Aug);40(8):921-929.
There is an ongoing debate whether a differentiation of autistic subtypes, especially between Asperger Syndrome (AS) and high-functioning-autism (HFA) is possible and if so, whether it is a categorical or dimensional one. The aim of this study was to examine the possible clustering of responses in different symptom domains without making any assumption concerning diagnostic appreciation. About 140 children and adolescents, incorporating 52 with a diagnosis of AS, 44 with HFA, 8 with atypical autism and 36 with other diagnoses, were examined. Our study does not support the thesis that autistic disorders are discrete phenotypes. On the contrary, it provides evidence that e.g. AS and autism are not qualitatively distinct disorders, but rather different quantitative manifestations of the same disorder.
27. Kelemenova S, Schmidtova E, Ficek A, Celec P, Kubranska A, Ostatnikova D. {{Polymorphisms of candidate genes in Slovak autistic patients}}. {Psychiatr Genet} (Aug);20(4):137-139.
Autism is one of the most genetically influenced neuropsychiatric disorders. However, its detailed genetic basis is far from being clear. Genome-wide association studies have revealed a number of candidate genes, mostly related to synaptogenesis and various neuroendocrine pathways. In our study we have focused on oxytocin (OT), oxytocin receptor (OXTR), GABA receptor gamma 3 (GABRG3), neuroligin (NLGN4X), and reelin (RELN). After signed consent, 90 autistic boys and 85 healthy controls were enrolled in the study. Polymorphisms of OT (rs2740204), OXTR (rs2228485), GABRG3 (rs28431127), and NLGN4X (rs5916338) were analyzed using restriction fragment length polymorphism. (GGC)n STR polymorphism in the 5’ UTR of the RELN gene was genotyped using fragment analysis. The only significant association in autistic boys in Slovakia was found with higher number of GGC repeats in the RELN gene (P=0.001) potentially explaining lower RELN levels in blood and brain of autistic patients.
28. Koh HC, Milne E, Dobkins K. {{Spatial contrast sensitivity in adolescents with autism spectrum disorders}}. {J Autism Dev Disord} (Aug);40(8):978-987.
Adolescents with autism spectrum disorders (ASD) and typically developing (TD) controls underwent a rigorous psychophysical assessment that measured contrast sensitivity to seven spatial frequencies (0.5-20 cycles/degree). A contrast sensitivity function (CSF) was then fitted for each participant, from which four measures were obtained: visual acuity, peak spatial frequency, peak contrast sensitivity, and contrast sensitivity at a low spatial frequency. There were no group differences on any of the four CSF measures, indicating no differential spatial frequency processing in ASD. Although it has been suggested that detail-oriented visual perception in individuals with ASD may be a result of differential sensitivities to low versus high spatial frequencies, the current study finds no evidence to support this hypothesis.
29. Mandell DS, Morales KH, Xie M, Lawer LJ, Stahmer AC, Marcus SC. {{Age of diagnosis among medicaid-enrolled children with autism, 2001-2004}}. {Psychiatr Serv} (Aug);61(8):822-829.
OBJECTIVE: This study examined child- and county-level factors associated with age of diagnosis of autism among Medicaid-enrolled children and the change in age of diagnosis over time. METHODS: National Medicaid claims from 2002 to 2004 were used to identify age of diagnosis and characteristics of children younger than ten years old with a diagnosis of autism (ICD-9 codes 299, 299.0x, or 299.8x). These data were linked to county-level education and health care variables. Linear regression with random effects for state and county was used to examine associations between these variables and age of diagnosis. RESULTS: A total of 28,722 Medicaid-enrolled children newly diagnosed with an autism spectrum disorder were identified. Their average age of diagnosis was 64.9 months. Adjusted average age of diagnosis dropped 5.0 months for autistic disorder and 1.8 months for other spectrum disorders during the study period. Asian children were diagnosed earlier than children in other racial or ethnic groups, although these differences were much more pronounced for other spectrum disorders than for autistic disorder. Children eligible for Medicaid through the poverty category were diagnosed earlier, on average, than children who were eligible through disability, foster care, or other reasons, although this difference decreased over time. Children in large urban or rural counties were diagnosed later than children in small urban or suburban counties. CONCLUSIONS: Findings showed that diagnosis of autism occurs much later than it should among Medicaid-enrolled children, although timeliness is improving over time. Analyses suggest that most of the observed variation is accounted for by child-level variables, rather than county-level resources or state policies.
30. McDuffie A, Yoder P. {{Types of parent verbal responsiveness that predict language in young children with autism spectrum disorder}}. {J Speech Lang Hear Res} (Aug);53(4):1026-1039.
PURPOSE: This study examined short-term predictive associations between 5 different types of parent verbal responsiveness and later spoken vocabulary for 32 young children with a confirmed diagnosis of autism spectrum disorder (ASD). METHOD: Parent verbal utterances were coded from videotapes of naturalistic parent-child play sessions using interval and event-based coding. A vocabulary difference score, calculated using the MacArthur Communicative Development Inventories (L. Fenson et al., 1993), was used as the outcome measure of spoken vocabulary 6 months later. RESULTS: Parent follow-in comments and follow-in directives predicted spoken vocabulary after controlling for child engagement. Parent expansions of child verbal utterances predicted spoken vocabulary after controlling for child talkativeness. When entered together into a regression analysis, metrics that represented (a) the number of parent utterances following into the child’s focus of attention and (b) the number of parent utterances responding to child verbal communication acts both accounted for unique variance in predicting change in spoken vocabulary from Time 1 to Time 2. CONCLUSION: Parent verbal utterances that follow into the child’s current focus of attention or respond to child verbal communication acts may facilitate the process of early vocabulary acquisition by mitigating the need for children with ASD to use attention-following as a word-learning strategy.
31. Miller FA, Hayeems RZ, Bytautas JP. {{What is a meaningful result? Disclosing the results of genomic research in autism to research participants}}. {Eur J Hum Genet} (Aug);18(8):867-871.
Developments in genomics research have been accompanied by a controversial ethical injunction: that researchers disclose individually relevant research results to research participants. With the explosion of genomic research on complex psychiatric conditions such as autism, researchers must increasingly contend with whether–and which results–to report. We conducted a qualitative study with researchers and participants involved in autism genomics research, including 4 focus groups and 23 interviews with parents of autistic children, and 23 interviews with researchers. Respondents considered genomic research results ‘reportable’ when results were perceived to explain cause, and answer the question ‘why;’ that is, respondents set a standard for reporting individually relevant genetic research results to individual participants that is specific to autism, reflecting the metaphysical value that genetic information is seen to offer in this context. In addition to this standard of meaning, respondents required that results be deemed ‘true.’ Here, respondents referenced standards of validity that were context nonspecific. Yet in practice, what qualified as ‘true’ depended on evidentiary standards within specific research disciplines as well as fundamental, and contested, theories about how autism is ‘genetic.’ For research ethics, these finding suggest that uniform and context-free obligations regarding result disclosure cannot readily be specified. For researchers, they suggest that result disclosure to individuals should be justified not only by perceived meaning but also by clarity regarding appropriate evidentiary standards, and attention to the status of epistemological debates regarding the nature and cause of disorders.
32. Moricke E, Swinkels SH, Beuker KT, Buitelaar JK. {{Predictive value of subclinical autistic traits at age 14-15 months for behavioural and cognitive problems at age 3-5 years}}. {Eur Child Adolesc Psychiatry} (Aug);19(8):659-668.
It is unclear whether subclinical autistic traits at very young age are transient or stable, and have clinical relevance. This study investigated the relationship between early subclinical autistic traits and the occurrence of later developmental and behavioural problems as well as problems in cognitive and language functioning. Parents of infants aged 14-15 months from the general population completed the Early Screening of Autistic Traits Questionnaire (ESAT). Three groups of children with high, moderate, and low ESAT-scores (total n = 103) were selected. Follow-up assessments included the CBCL 1(1/2)-5 at age 3 years, and the SCQ, the ADI-R, the ADOS-G, an on-verbal intelligence test, and language tests for comprehension and production at age 4-5 years. None of the children met criteria for autism spectrum disorder at follow-up. Children with high ESAT-scores at 14-15 months showed significantly more internalizing and externalizing problems at age 3 years and scored significantly lower on language tests at age 4-5 years than children with moderate or low ESAT-scores. Further, significantly more children with high ESAT-scores (14/26, 53.8%) than with moderate and low ESAT-scores (5/36, 13.9% and 1/41, 2.4%, respectively) were in the high-risk/clinical range on one or more outcome domains (autistic symptoms, behavioural problems, cognitive and language abilities). Subclinical autistic traits at 14-15 months predict later behavioural problems and delays in cognitive and language functioning rather than later ASD-diagnoses. The theoretical implications of the findings lie in the pivotal role of early social and communication skills for the development of self-regulation of emotions and impulses. The practical implications bear on the early recognition of children at risk for behavioural problems and for language and cognitive problems.
33. Mosconi MW, Kay M, D’Cruz AM, Guter S, Kapur K, Macmillan C, Stanford LD, Sweeney JA. {{Neurobehavioral abnormalities in first-degree relatives of individuals with autism}}. {Arch Gen Psychiatry} (Aug);67(8):830-840.
CONTEXT: Studying sensorimotor and neurocognitive impairments in unaffected family members of individuals with autism may help identify familial pathophysiological mechanisms associated with the disorder. OBJECTIVE: To determine whether atypical sensorimotor or neurocognitive characteristics associated with autism are present in first-degree relatives of individuals with autism. DESIGN: Case-control comparison of neurobehavioral functions. SETTING: University medical center. PARTICIPANTS: Fifty-seven first-degree relatives of individuals with autism and 40 age-, sex-, and IQ-matched healthy control participants (aged 8-54 years). MAIN OUTCOME MEASURES: Oculomotor tests of sensorimotor responses (saccades and smooth pursuit); procedural learning and response inhibition; neuropsychological tests of motor, memory, and executive functions; and psychological measures of social behavior, communication skills, and obsessive-compulsive behaviors. RESULTS: On eye movement testing, family members demonstrated saccadic hypometria, reduced steady-state pursuit gain, and a higher rate of voluntary response inhibition errors relative to controls. They also showed lateralized deficits in procedural learning and open-loop pursuit gain (initial 100 milliseconds of pursuit) and increased variability in the accuracy of large-amplitude saccades that were confined to rightward movements. In neuropsychological studies, only executive functions were impaired relative to those of controls. Family members reported more communication abnormalities and obsessive-compulsive behaviors than controls. Deficits across oculomotor, neuropsychological, and psychological domains were relatively independent from one another. CONCLUSIONS: Family members of individuals with autism demonstrate oculomotor abnormalities implicating pontocerebellar and frontostriatal circuits and left-lateralized alterations of frontotemporal circuitry and striatum. The left-lateralized alterations have not been identified in other neuropsychiatric disorders and are of interest given atypical brain lateralization and language development associated with the disorder. Similar oculomotor deficits have been reported in individuals with autism, suggesting that they may be familial and useful for studies of neurophysiological and genetic mechanisms in autism.
34. Neuhaus E, Beauchaine TP, Bernier R. {{Neurobiological correlates of social functioning in autism}}. {Clin Psychol Rev} (Aug);30(6):733-748.
Although autism is defined by deficits in three areas of functioning (social, communicative, and behavioral), impairments in social interest and restricted behavioral repertoires are central to the disorder. As a result, a detailed understanding of the neurobiological systems subserving social behavior may have implications for prevention, early identification, and intervention for affected families. In this paper, we review a number of potential neurobiological mechanisms–across several levels of analysis–that subserve normative social functioning. These include neural networks, neurotransmitters, and hormone systems. After describing the typical functioning of each system, we review available empirical findings specific to autism. Among the most promising potential mechanisms of social behavioral deficits in autism are those involving neural networks including the amygdala, the mesocorticolimbic dopamine system, and the oxytocin system. Particularly compelling are explanatory models that integrate mechanisms across biological systems, such as those linking dopamine and oxytocin with brain regions critical to reward processing.
35. Nguyen A, Rauch TA, Pfeifer GP, Hu VW. {{Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain}}. {Faseb J} (Aug);24(8):3036-3051.
Autism is currently considered a multigene disorder with epigenetic influences. To investigate the contribution of DNA methylation to autism spectrum disorders, we have recently completed large-scale methylation profiling by CpG island microarray analysis of lymphoblastoid cell lines derived from monozygotic twins discordant for diagnosis of autism and their nonautistic siblings. Methylation profiling revealed many candidate genes differentially methylated between discordant MZ twins as well as between both twins and nonautistic siblings. Bioinformatics analysis of the differentially methylated genes demonstrated enrichment for high-level functions including gene transcription, nervous system development, cell death/survival, and other biological processes implicated in autism. The methylation status of 2 of these candidate genes, BCL-2 and retinoic acid-related orphan receptor alpha (RORA), was further confirmed by bisulfite sequencing and methylation-specific PCR, respectively. Immunohistochemical analyses of tissue arrays containing slices of the cerebellum and frontal cortex of autistic and age- and sex-matched control subjects revealed decreased expression of RORA and BCL-2 proteins in the autistic brain. Our data thus confirm the role of epigenetic regulation of gene expression via differential DNA methylation in idiopathic autism, and furthermore link molecular changes in a peripheral cell model with brain pathobiology in autism.
36. O’Donnell L, Soileau B, Heard P, Carter E, Sebold C, Gelfond J, Hale DE, Cody JD. {{Genetic determinants of autism in individuals with deletions of 18q}}. {Hum Genet} (Aug);128(2):155-164.
Previous research has suggested that individuals with constitutional hemizygosity of 18q have a higher risk of autistic-like behaviors. We sought to identify genomic factors located on chromosome 18 as well as other loci that correlate with autistic behaviors. One hundred and five individuals with 18q- were assessed by high-resolution oligo aCGH and by parental ratings of behavior on the Gilliam Autism Rating Scale. Forty-five individuals (43%) had scores within the « possibly » or « very likely » categories of risk for an autism diagnosis. We searched for genetic determinants of autism by (1) identifying additional chromosome copy number changes (2) Identifying common regions of hemizygosity on 18q, and (3) evaluating four regions containing candidate genes located on 18q (MBD1, TCF4, NETO1, FBXO15). Three individuals with a « very likely » probability of autism had a captured 17p telomere in addition to the 18q deletion suggesting a possible synergy between hemizygosity of 18q and trigosity of 17p. In addition, two of the individuals with an 18q deletion and a « very likely » probability of autism rating had a duplication of the entire short arm of chromosome 18. Although no common region of hemizygosity on 18q was identified, analysis of four regions containing candidate genes suggested that individuals were significantly more likely to exhibit autistic-like behaviors if their region of hemizygosity included TCF4, NETO1, and FBXO15 than if they had any other combination of hemizygosity of the candidate genes. Taken together, these findings identify several new potential candidate genes or regions for autistic behaviors.
37. Pijnacker J, Geurts B, van Lambalgen M, Buitelaar J, Hagoort P. {{Exceptions and anomalies: an ERP study on context sensitivity in autism}}. {Neuropsychologia} (Aug);48(10):2940-2951.
Several studies have demonstrated that people with ASD and intact language skills still have problems processing linguistic information in context. Given this evidence for reduced sensitivity to linguistic context, the question arises how contextual information is actually processed by people with ASD. In this study, we used event-related brain potentials (ERPs) to examine context sensitivity in high-functioning adults with autistic disorder (HFA) and Asperger syndrome at two levels: at the level of sentence processing and at the level of solving reasoning problems. We found that sentence context as well as reasoning context had an immediate ERP effect in adults with Asperger syndrome, as in matched controls. Both groups showed a typical N400 effect and a late positive component for the sentence conditions, and a sustained negativity for the reasoning conditions. In contrast, the HFA group demonstrated neither an N400 effect nor a sustained negativity. However, the HFA group showed a late positive component which was larger for semantically anomalous sentences than congruent sentences. Because sentence context had a modulating effect in a later phase, semantic integration is perhaps less automatic in HFA, and presumably more elaborate processes are needed to arrive at a sentence interpretation.
38. Provost B, Crowe TK, Osbourn PL, McClain C, Skipper BJ. {{Mealtime behaviors of preschool children: comparison of children with autism spectrum disorder and children with typical development}}. {Phys Occup Ther Pediatr} (Aug);30(3):220-233.
This study identified mealtime behaviors of young children (3-6 years old) with autism spectrum disorder (ASD) and compared these behaviors to children with typical development matched for age, gender, and ethnicity. The parents of children with ASD (n = 24) and children with typical development (n = 24) completed a mealtime survey to assess early mealtime history, mealtime location and behaviors, food preferences and behaviors, and eating problems. Parental concerns increased significantly after age 1 year in the children with ASD. Matched analysis results showed significant differences between the pairs of children in specific mealtime behaviors. More children with ASD were picky eaters, mouthed nonfood items, resisted new foods, limited foods based on textures, had problems with gagging, had difficulty eating at regular restaurants or at school, resisted sitting at the table, and threw or dumped food. Knowledge of these early differences can help pediatric therapists to assess feeding issues and plan interventions.
39. Rada RE. {{Controversial issues in treating the dental patient with autism}}. {J Am Dent Assoc} (Aug);141(8):947-953.
BACKGROUND: The author conducted a literature review to investigate concerns that parents of a child with an autism spectrum disorder may have when oral health care is provided to the child. TYPES OF STUDIES REVIEWED: The author conducted a search of PubMed using the terms « mercury, » « fluoride, » « nitrous oxide, » « antibiotics, » « gluten, » « casein, » « acetaminophen » and « dentistry » each with the term « autism. » He identified controlled studies and literature reviews in both medical and alternative medical literature that were related to areas of importance to oral health care workers. The use of mercury, fluoride, nitrous oxide, antibiotic agents and acetaminophen all are sources of controversy between dentistry and the parents of children who have autism. RESULTS: The author found that patients who have autism frequently also have allergies, immune system problems, gastrointestinal disturbances and seizures. Dental health care workers must be aware of these comorbid conditions so they can provide optimal care to the children with autism spectrum disorders. The author found two distinct theories as to what causes autism: one that focuses on genetic causes, and one that focuses on the impact of the environment. He found that the interpretation of these theories might affect parents’ concerns about various dental treatments. CLINICAL IMPLICATIONS: Dentists treating patients who have autism may need to provide more than standard patient care, as the use of time-tested dental treatment and prevention modalities may be questioned or refused by parents.
40. Rinehart N, McGinley J. {{Is motor dysfunction core to autism spectrum disorder?}}. {Dev Med Child Neurol} (Aug);52(8):697.
41. Russell-Smith SN, Maybery MT, Bayliss DM. {{Are the autism and positive schizotypy spectra diametrically opposed in local versus global processing?}}. {J Autism Dev Disord} (Aug);40(8):968-977.
Crespi and Badcock (2008) proposed that autism and psychosis represent two extremes on a cognitive spectrum with normality at its center. Their specific claim that autistic and positive schizophrenia traits contrastingly affect preference for local versus global processing was investigated by examining Embedded Figures Test performance in two groups of students separated on autistic-like traits but matched on positive schizotypy traits, and two groups separated on positive schizotypy traits but matched on autistic-like traits (n = 20 per group). Consistent with their theory, higher levels of autistic-like traits were associated with faster identification of hidden figures, whereas higher levels of positive schizotypy traits were associated with slower identification.
42. Saemundsen E, Juliusson H, Hjaltested S, Gunnarsdottir T, Halldorsdottir T, Hreidarsson S, Magnusson P. {{Prevalence of autism in an urban population of adults with severe intellectual disabilities–a preliminary study}}. {J Intellect Disabil Res} (Aug);54(8):727-735.
BACKGROUND: Research on the prevalence of autism in Iceland has indicated that one possible explanation of fewer autism cases in older age groups was due to an underestimation of autism in individuals with intellectual disabilities (IDs). The present study systematically searched for autism cases in the adult population of individuals with severe ID living in the city of Reykjavik, Iceland. METHODS: Potential participants (n = 256) were recruited through the Regional Office for the Affairs of the Handicapped in Reykjavik. First, a screening tool for autism was applied, followed by the Childhood Autism Rating Scale and finally the Autism Diagnostic Interview-Revised (ADI-R). RESULTS: The point prevalence of severe ID was 3.7/1000 (95% CI 3.2-4.1) with a male-female ratio of 1.2:1. Participation rate in the study was 46.5%. Participants were younger than non-participants and more often residents of group homes. The prevalence of autism was 21% (25/119) (95% CI 14.7-29.2) with a male-female ratio of 1.8:1. Of the individuals with autism, 10/25 (40%) were verbal according to the ADI-R definition, and 18/25 (72%) had active epilepsy and/or other neurological conditions and handicaps. CONCLUSION: The study identified twice the number of autism cases than those previously recognised within the service system. Autism is a prevalent additional handicap in individuals with severe ID, which should always be considered in this population. There are indications that the estimated prevalence of autism found should be considered minimal.
43. Sahyoun CP, Belliveau JW, Mody M. {{White matter integrity and pictorial reasoning in high-functioning children with autism}}. {Brain Cogn} (Aug);73(3):180-188.
The current study investigated the neurobiological role of white matter in visuospatial versus linguistic processing abilities in autism using diffusion tensor imaging. We examined differences in white matter integrity between high-functioning children with autism (HFA) and typically developing controls (CTRL), in relation to the groups’ response times (RT) on a pictorial reasoning task under three conditions: visuospatial, V, semantic, S, and V+S, a hybrid condition allowing language use to facilitate visuospatial transformations. Diffusion-weighted images were collected from HFA and CTRL participants, matched on age and IQ, and significance maps were computed for group differences in fractional anisotropy (FA) and in RT-FA association for each condition. Typically developing children showed increased FA within frontal white matter and the superior longitudinal fasciculus (SLF). HFA showed increased FA within peripheral white matter, including the ventral temporal lobe. Additionally, RT-FA relationships in the semantic condition (S) implicated white matter near the STG and in the SLF within the temporal and frontal lobes to a greater extent in CTRL. Performance in visuospatial reasoning (V, V+S), in comparison, was related to peripheral parietal and superior precentral white matter in HFA, but to the SLF, callosal, and frontal white matter in CTRL. Our results appear to support a preferential use of linguistically-mediated pathways in reasoning by typically developing children, whereas autistic cognition may rely more on visuospatial processing networks.
44. Semrud-Clikeman M, Walkowiak J, Wilkinson A, Butcher B. {{Executive functioning in children with Asperger syndrome, ADHD-combined type, ADHD-predominately inattentive type, and controls}}. {J Autism Dev Disord} (Aug);40(8):1017-1027.
The purpose of the study was to evaluate neuropsychological and behavioral rating measures of executive functions (EF) in children with two subtypes of ADHD, Asperger syndrome (AS), and controls. Relative to the control group, the clinical groups experienced more difficulty in EF. The AS group showed the most difficulty in emotional control, behavioral regulation, fluid reasoning, and planning compared to the ADHD groups. Number of symptoms of ADHD or AS was found to be significantly related to ratings of difficulty with behavior regulation, metacognition, and general behavioral regulation across the sample. These findings indicate that children with AS or ADHD may have a differing EF profile and thus, may respond differentially to interventions.
45. Shih P, Shen M, Ottl B, Keehn B, Gaffrey MS, Muller RA. {{Atypical network connectivity for imitation in autism spectrum disorder}}. {Neuropsychologia} (Aug);48(10):2931-2939.
Imitation has been considered as one of the precursors for sociocommunicative development. Impairments of imitation in autism spectrum disorder (ASD) could be indicative of dysfunctional underlying neural processes. Neuroimaging studies have found reduced activation in areas associated with imitation, but a functional connectivity MRI network perspective of these regions in autism is unavailable. Functional and effective connectivity was examined in 14 male participants with ASD and 14 matched typically developing (TD) participants. We analyzed intrinsic, low-frequency blood oxygen level dependent (BOLD) fluctuations of three regions in literature found to be associated with imitation (inferior frontal gyrus [IFG], inferior parietal lobule [IPL], superior temporal sulcus [STS]). Direct group comparisons did not show significantly reduced functional connectivity within the imitation network in ASD. Conversely, we observed greater connectivity with frontal regions, particularly superior frontal and anterior cingulate gyri, in the ASD compared to TD group. Structural equation modeling of effective connectivity revealed a significantly reduced effect of IPL on IFG together with an increased influence of a region in dorsal prefrontal cortex (dPFC) on IFG in the ASD group. Our results suggest atypical connectivity of the imitation network with an enhanced role of dPFC, which may relate to behavioral impairments.
46. Sizoo B, van den Brink W, Franke B, Vasquez AA, van Wijngaarden-Cremers P, van der Gaag RJ. {{Do candidate genes discriminate patients with an autism spectrum disorder from those with attention deficit/hyperactivity disorder and is there an effect of lifetime substance use disorders?}}. {World J Biol Psychiatry} (Aug);11(5):699-708.
OBJECTIVE: Autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) are developmental disorders that overlap in a number of domains, sometimes complicating clinical distinction between both disorders. Although there is some evidence for a genetic overlap, there are no reports on genes that could differentiate between ASD and ADHD. Furthermore, it is not known whether this genetic overlap is influenced by co-morbid substance use disorders (SUD). METHODS: A total of 110 adult patients with ASD (n=61) or ADHD (n=49) with or without a lifetime history of SUD participated in a study in which we genotyped polymorphisms in five known candidate genes for (one of) the disorders, i.e. the 5HTTLPR in SLC6A4/5-HTT, rs1800497 (TaqIA C>T) in DRD2, rs7794745 in CNTNAP2, rs1843809 in TPH2, and rs6565113 in CDH13. Genotyping was by Taqman-based analysis or by simple sequence length analysis, where appropriate. RESULTS: ASD could be differentiated from ADHD with nominal statistical significance by the 5HTTLPR, and the polymorphisms in TPH2 and CNTNAP2. The results were independent of lifetime SUD status. CONCLUSIONS: Serotonergic genes could prove to play an important role in differentiating between ASD and ADHD, but the results of this exploratory study need replication.
47. Tanaka JW, Wolf JM, Klaiman C, Koenig K, Cockburn J, Herlihy L, Brown C, Stahl S, Kaiser MD, Schultz RT. {{Using computerized games to teach face recognition skills to children with autism spectrum disorder: the Let’s Face It! program}}. {J Child Psychol Psychiatry} (Aug);51(8):944-952.
BACKGROUND: An emerging body of evidence indicates that relative to typically developing children, children with autism are selectively impaired in their ability to recognize facial identity. A critical question is whether face recognition skills can be enhanced through a direct training intervention. METHODS: In a randomized clinical trial, children diagnosed with autism spectrum disorder were pre-screened with a battery of subtests (the Let’s Face It! Skills battery) examining face and object processing abilities. Participants who were significantly impaired in their face processing abilities were assigned to either a treatment or a waitlist group. Children in the treatment group (N = 42) received 20 hours of face training with the Let’s Face It! (LFI!) computer-based intervention. The LFI! program is comprised of seven interactive computer games that target the specific face impairments associated with autism, including the recognition of identity across image changes in expression, viewpoint and features, analytic and holistic face processing strategies and attention to information in the eye region. Time 1 and Time 2 performance for the treatment and waitlist groups was assessed with the Let’s Face It! Skills battery. RESULTS: The main finding was that relative to the control group (N = 37), children in the face training group demonstrated reliable improvements in their analytic recognition of mouth features and holistic recognition of a face based on its eyes features. CONCLUSION: These results indicate that a relatively short-term intervention program can produce measurable improvements in the face recognition skills of children with autism. As a treatment for face processing deficits, the Let’s Face It! program has advantages of being cost-free, adaptable to the specific learning needs of the individual child and suitable for home and school applications.
48. Toro R, Konyukh M, Delorme R, Leblond C, Chaste P, Fauchereau F, Coleman M, Leboyer M, Gillberg C, Bourgeron T. {{Key role for gene dosage and synaptic homeostasis in autism spectrum disorders}}. {Trends Genet} (Aug);26(8):363-372.
Autism spectrum disorders (ASD) are characterized by impairments in reciprocal social communication, and repetitive, stereotyped verbal and non-verbal behaviors. Genetic studies have provided a relatively large number of genes that constitute a comprehensive framework to better understand this complex and heterogeneous syndrome. Based on the most robust findings, three observations can be made. First, genetic contributions to ASD are highly heterogeneous and most probably involve a combination of alleles with low and high penetrance. Second, the majority of the mutations apparently affect a single allele, suggesting a key role for gene dosage in susceptibility to ASD. Finally, the broad expression and function of the causative genes suggest that alteration of synaptic homeostasis could be a common biological process associated with ASD. Understanding the mechanisms that regulate synaptic homeostasis should shed new light on the causes of ASD and could provide a means to modulate the severity of the symptoms.
49. Van Waelvelde H, Oostra A, Dewitte G, Van Den Broeck C, Jongmans MJ. {{Stability of motor problems in young children with or at risk of autism spectrum disorders, ADHD, and or developmental coordination disorder}}. {Dev Med Child Neurol} (Aug);52(8):e174-178.
AIM: The aim of this study was to investigate the stability of motor problems in a clinically referred sample of children with, or at risk of, autism spectrum disorders (ASDs), attention-deficit-hyperactivity disorder (ADHD), and/or developmental coordination disorder (DCD). METHOD: Participants were 49 children (39 males, 10 females; mean age 5y 6 mo, SD 10 mo) with various developmental problems, a Movement Assessment Battery for Children (M-ABC) score on or below the 15th centile, and an IQ of 70 or more. Sixteen children were at risk of developing ADHD, 15 children had a diagnosis of, or were at risk of developing ASD, and 18 children had neither diagnosis. Children were reassessed 2 to 3 years later. RESULTS: At follow-up (mean age 7y 11 mo; SD 1y), the mean M-ABC score was significantly increased, and in 22 children was no longer below the 15th centile. A general linear model to compare the difference in M-ABC scores in the three groups of children demonstrated a significant difference between groups (p=0.013), with the age at the initial assessment as a significant covariate (p=0.052). The group of children with or at risk of ASD showed less improvement in motor performance. INTERPRETATION: Motor problems among preschool age children are not always stable, but appear to be so in most children with ASDs.
50. Volden J, Phillips L. {{Measuring pragmatic language in speakers with autism spectrum disorders: Comparing the children’s communication checklist–2 and the test of pragmatic language}}. {Am J Speech Lang Pathol} (Aug);19(3):204-212.
PURPOSE: To compare the Children’s Communication Checklist-2 (CCC-2), a pare
