1. Cop E, Oner P, Oner O. {{Risperidone and Double Incontinence in a Child with Autism}}. {J Child Adolesc Psychopharmacol};2011 (Dec 2)
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2. Duerden EG, Mak-Fan KM, Taylor MJ, Roberts SW. {{Regional differences in grey and white matter in children and adults with autism spectrum disorders: an activation likelihood estimate (ALE) meta-analysis}}. {Autism Res};2011 (Dec 2)
Structural alterations in brain morphology have been inconsistently reported in children compared to adults with autism spectrum disorder (ASD). We assessed these differences by performing meta-analysis on the data from 19 voxel-based morphometry studies. Common findings across the age groups were grey matter reduction in left putamen and medial prefrontal cortex (mPFC) and grey matter increases in the lateral PFC, while white matter decreases were seen mainly in the children in frontostriatal pathways. In the ASD sample, children/adolescents were more likely than adults to have increased grey matter in bilateral fusiform gyrus, right cingulate and insula. Results show that clear maturational differences exist in social cognition and limbic processing regions only in children/adolescents and not in adults with ASD, and may underlie the emotional regulation that improves with age in this population. Autism Res 2011,4:xxx-xxx. (c) 2011 International Society for Autism Research, Wiley Periodicals, Inc.
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3. Erickson CA, Early M, Stigler KA, Wink LK, Mullett JE, McDougle CJ. {{An Open-Label Naturalistic Pilot Study of Acamprosate in Youth with Autistic Disorder}}. {J Child Adolesc Psychopharmacol};2011 (Dec 2)
Abstract To date, placebo-controlled drug trials targeting the core social impairment of autistic disorder (autism) have had uniformly negative results. Given this, the search for new potentially novel agents targeting the core social impairment of autism continues. Acamprosate is U.S. Food and Drug Administration-approved drug to treat alcohol dependence. The drug likely impacts both gamma-aminobutyric acid and glutamate neurotransmission. This study describes our initial open-label experience with acamprosate targeting social impairment in youth with autism. In this naturalistic report, five of six youth (mean age, 9.5 years) were judged treatment responders to acamprosate (mean dose 1,110 mg/day) over 10 to 30 weeks (mean duration, 20 weeks) of treatment. Acamprosate was well tolerated with only mild gastrointestinal adverse effects noted in three (50%) subjects.
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4. Gastgeb HZ, Dundas EM, Minshew NJ, Strauss MS. {{Category Formation in Autism: Can Individuals with Autism Form Categories and Prototypes of Dot Patterns?}}. {J Autism Dev Disord};2011 (Dec 3)
There is a growing amount of evidence suggesting that individuals with autism have difficulty with categorization. One basic cognitive ability that may underlie this difficulty is the ability to abstract a prototype. The current study examined prototype and category formation with dot patterns in high-functioning adults with autism and matched controls. Individuals with autism were found to have difficulty forming prototypes and categories of dot patterns. The eye-tracking data did not reveal any between group differences in attention to the dot patterns. However, relationships between performance and intelligence in the autism group suggest possible processing differences between the groups. Results are consistent with previous studies that have found deficits in prototype formation and extend these deficits to dot patterns.
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5. Ghanizadeh A. {{Malondialdehyde, Bcl-2, Superoxide Dismutase and Glutathione Peroxidase may Mediate the Association of Sonic Hedgehog Protein and Oxidative Stress in Autism}}. {Neurochem Res};2011 (Dec 6)
Sonic hedgehog signaling and brain-derived neurotrophic factor play a neuro-protective role against oxidative stress in autism. Sonic hedgehog also increases Bcl-2 expression and the activities of superoxide dismutase and glutathione peroxidase. The level or activity of Bcl-2, brain-derived neurotrophic factor, and the activities of superoxide dismutase and glutathione peroxidase are decreased in autism. Sonic hedgehog also decreases the production of malondialdehyde that its level is high in autism. Therefore, it is supposed that sonic hedgehog may be associated with oxidative stress in autism through other pathways too.
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6. Hines M, Balandin S, Togher L. {{Communication and AAC in the Lives of Adults with Autism: The Stories of Their Older Parents}}. {Augment Altern Commun};2011 (Dec);27(4):256-266.
The aim of this study was to explore the communication experiences, particularly those related to augmentative and alternative communication (AAC), of older parents who had an adult son or daughter with autism. A narrative analysis of in-depth interviews with 16 older parents indicated that the majority had rarely spontaneously mentioned AAC or other communication interventions. Most did not express the need for such services. Yet, communication breakdown featured prominently in parents’ narratives about interactions with their son or daughter. The quality of the communication between older parents and their offspring with autism constituted important sources of both gratification and strain in parents’ roles as caregivers. Reasons for the current lack of communication interventions are discussed, along with implications for communication and AAC service provision.
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7. Horovitz M, Matson JL, Sipes M. {{The relationship between parents’ first concerns and symptoms of autism spectrum disorders}}. {Dev Neurorehabil};2011;14(6):372-377.
Objective: To examine the relationship between parents’ first concerns and early Autism Spectrum Disorder (ASD) symptoms. Methods: Symptoms of ASD were compared in 1393 toddlers with and without a diagnosis of an ASD, based on the area of parents’ first concerns. Communication and behaviour problems were examined in the current study, as they are the most frequently reported first concerns in the literature. A series of one-way, between-subjects ANOVAs were conducted on each sub-scale of the BISCUIT Part-1. Results: Symptoms of Autism Spectrum Disorders (ASD) significant differences were found between most groups on all sub-scales. On the Socialization/Non-verbal Communication and Repetitive Behaviour/Restricted Interest sub-scales, those with ASD and behaviour concerns had the highest scores. On the Communication sub-scale, those with ASD and communication concerns had the highest scores. Conclusions: A significant relationship exists between early ASD symptoms and area of first concern. The implications of these results are discussed.
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8. Knott M, Leonard H, Downs J. {{The diagnostic odyssey to Rett syndrome: The experience of an Australian family}}. {Am J Med Genet A};2011 (Dec 6)
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9. Marschik PB, Einspieler C. {{Methodological note: Video analysis of the early development of Rett syndrome-one method for many disciplines}}. {Dev Neurorehabil};2011;14(6):355-357.
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10. Orellana LM, Silvestre FJ, Martinez-Sanchis S, Martinez-Mihi V, Bautista D. {{Oral manifestations in a group of adults with autism spectrum disorder}}. {Med Oral Patol Oral Cir Bucal};2011 (Dec 6)
Objective: A number of studies have evaluated the buccodental health of patients with autism spectrum disorder (ASD), though most have involved children, and no specific oral manifestations have been described. The present study describes the buccodental disorders and hygiene habits in a group of adults with ASD. Study Design: A prospective case-control study was made of a group of patients with ASD (n=30), with a mean age of 27.7+/-5.69 years, and of a healthy age- and gender-matched control group (n=30). An evaluation was made of the medical history, medication, oral hygiene habits and oral diseases, with determination of the CAOD, CAOS and OHI-S oral hygiene scores. Results: Most of the patients in the ASD group used two or more drugs and were assisted in brushing 2-3 times a day. The most frequent manifestations were bruxism, self-inflicted oral lesions and certain malocclusions. The CAOD and CAOS scores were significantly lower than in the controls. Conclusions: Adults with ASD and assisted dental hygiene presented fewer caries than the non-disabled population. However, bruxism, ogival palate and anterior open bite were frequent in the patients with ASD.
11. Rispoli M, Neely L, Lang R, Ganz J. {{Training paraprofessionals to implement interventions for people autism spectrum disorders: A systematic review}}. {Dev Neurorehabil};2011;14(6):378-388.
Objective: This review summarizes studies in which paraprofessionals were trained to implement interventions for people with autism spectrum disorders (ASD) in school and rehabilitation settings. Methods: Systematic searches identified 12 studies meeting inclusion criteria. These studies were evaluated in terms of: (a) participant characteristics, (b) intervention implemented, (c) training procedures, (d) outcomes and (e) certainty of evidence. Results: Across the 12 studies intervention was provided to a total of 39 paraprofessionals including teacher aides and rehabilitation staff. Paraprofessionals were trained to implement: social stories, prompting, Picture Exchange Communication System (PECS), Discrete Trial Training (DTT), Pivotal Response Training (PRT), incidental teaching or activity schedules. Training procedures included written and verbal explanations, modelling, video demonstrations, role playing and feedback. Positive outcomes were reported in 92% of the included studies. Conclusion: Although the literature base is limited, this review highlights promising training procedures and areas in need of further research.
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12. Rossignol DA, Frye RE. {{A review of research trends in physiological abnormalities in autism spectrum disorders: immune dysregulation, inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures}}. {Mol Psychiatry};2011 (Dec 6)
Recent studies have implicated physiological and metabolic abnormalities in autism spectrum disorders (ASD) and other psychiatric disorders, particularly immune dysregulation or inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures (‘four major areas’). The aim of this study was to determine trends in the literature on these topics with respect to ASD. A comprehensive literature search from 1971 to 2010 was performed in these four major areas in ASD with three objectives. First, publications were divided by several criteria, including whether or not they implicated an association between the physiological abnormality and ASD. A large percentage of publications implicated an association between ASD and immune dysregulation/inflammation (416 out of 437 publications, 95%), oxidative stress (all 115), mitochondrial dysfunction (145 of 153, 95%) and toxicant exposures (170 of 190, 89%). Second, the strength of evidence for publications in each area was computed using a validated scale. The strongest evidence was for immune dysregulation/inflammation and oxidative stress, followed by toxicant exposures and mitochondrial dysfunction. In all areas, at least 45% of the publications were rated as providing strong evidence for an association between the physiological abnormalities and ASD. Third, the time trends in the four major areas were compared with trends in neuroimaging, neuropathology, theory of mind and genetics (‘four comparison areas’). The number of publications per 5-year block in all eight areas was calculated in order to identify significant changes in trends. Prior to 1986, only 12 publications were identified in the four major areas and 51 in the four comparison areas (42 for genetics). For each 5-year period, the total number of publications in the eight combined areas increased progressively. Most publications (552 of 895, 62%) in the four major areas were published in the last 5 years (2006-2010). Evaluation of trends between the four major areas and the four comparison areas demonstrated that the largest relative growth was in immune dysregulation/inflammation, oxidative stress, toxicant exposures, genetics and neuroimaging. Research on mitochondrial dysfunction started growing in the last 5 years. Theory of mind and neuropathology research has declined in recent years. Although most publications implicated an association between the four major areas and ASD, publication bias may have led to an overestimation of this association. Further research into these physiological areas may provide insight into general or subset-specific processes that could contribute to the development of ASD and other psychiatric disorders.Molecular Psychiatry advance online publication, 6 December 2011; doi:10.1038/mp.2011.165.
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13. Schanding GT, Jr., Nowell KP, Goin-Kochel RP. {{Utility of the Social Communication Questionnaire-Current and Social Responsiveness Scale as Teacher-Report Screening Tools for Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (Dec 6)
Limited research exists regarding the role of teachers in screening for Autism Spectrum Disorders (ASD). The current study examined the use of the Social Communication Questionnaire (SCQ) and Social Responsiveness Scale (SRS) as completed by parents and teachers about school-age children from the Simons Simplex Collection. Using the recommended cutoff scores in the manuals and extant literature, the teacher-completed SCQ and SRS yielded lower sensitivity and specificity values than would be desirable; however, lowering the cutoff scores on both instruments improved sensitivity and specificity to more adequate levels for screening purposes. Using the adjusted cutoff scores, the SRS teacher form appears to be a slightly better screener than the SCQ. Implications and limitations are discussed, as well as areas for future research.
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14. Vignoli A, La Briola F, Peron A, Turner K, Savini M, Cogliati F, Russo S, Canevini MP. {{Medical care of adolescents and women with Rett syndrome: An Italian study}}. {Am J Med Genet A};2011 (Dec 2)
Rett syndrome (RTT) is a rare neurodevelopmental disorder, linked to MECP2 gene mutations in the majority of cases, which results in severe disability and is associated with several comorbidities. The clinical condition of RTT patients tends to stabilize over time, and prolonged survival has recently been demonstrated. However, limited information is available on the long-term course of older patients with RTT, especially among those in Southern Europe. The aim of our study is to evaluate the main clinical features and state of health of adult Italian patients with RTT and to present their evolution over time, identifying major clinical issues present at different ages. A total of 130 families of patients with RTT aged >/=14 years were asked to complete a questionnaire, 84 of which were returned (65%). Among the clinical characteristics of RTT, stereotypies and poor hand function and feeding ability remained stable over time, while nonverbal communication tended to improve. With regard to the main pathologies, sleep, behavioral, and autonomic disorders persisted into adulthood, while epilepsy improved and musculoskeletal problems worsened. In our sample, older patients with R294X and R133C mutations and with C-terminal deletions showed lower levels of clinical severity. The development of guidelines for the clinical management of patients with RTT will assist health care providers in dealing with the complex RTT phenotype. More extensive data about the long-term course of the condition could help in the design of programs for secondary prevention of disabilities for younger females affected by the syndrome. (c) 2011 Wiley Periodicals, Inc.
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15. Xu LM, Li JR, Huang Y, Zhao M, Tang X, Wei L. {{AutismKB: an evidence-based knowledgebase of autism genetics}}. {Nucleic Acids Res};2011 (Dec 1)
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with a prevalence of 0.9-2.6%. Twin studies showed a heritability of 38-90%, indicating strong genetic contributions. Yet it is unclear how many genes have been associated with ASD and how strong the evidence is. A comprehensive review and analysis of literature and data may bring a clearer big picture of autism genetics. We show that as many as 2193 genes, 2806 SNPs/VNTRs, 4544 copy number variations (CNVs) and 158 linkage regions have been associated with ASD by GWAS, genome-wide CNV studies, linkage analyses, low-scale genetic association studies, expression profiling and other low-scale experimental studies. To evaluate the evidence, we collected metadata about each study including clinical and demographic features, experimental design and statistical significance, and used a scoring and ranking approach to select a core data set of 434 high-confidence genes. The genes mapped to pathways including neuroactive ligand-receptor interaction, synapse transmission and axon guidance. To better understand the genes we parsed over 30 databases to retrieve extensive data about expression patterns, protein interactions, animal models and pharmacogenetics. We constructed a MySQL-based online database and share it with the broader autism research community at http://autismkb.cbi.pku.edu.cn, supporting sophisticated browsing and searching functionalities.
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16. Zmigrod S, de Sonneville LM, Colzato LS, Swaab H, Hommel B. {{Cognitive control of feature bindings: evidence from children with autistic spectrum disorder}}. {Psychol Res};2011 (Dec 6)
Understanding how the brain integrates features from different domains that are processed in distinct cortical regions calls for the examination of integration processes. Recent studies of feature-repetition effects demonstrated interactions across perceptual features and action-related features: repeating only some features of the perception-action episode hinders performance. These partial-repetition costs point to the existence of temporary memory traces (event files). However, the principles and the constraints that govern the management of such traces are still unclear. Here, we investigated whether children with autistic spectrum disorder (ASD) differ from typically developing children in managing episodic memory traces. The results show that both groups integrate stimulus features along with action features, but children with ASD exhibit larger partial-repetition costs, suggesting lesser control and flexibility in updating episodic memory traces. The findings are discussed in the light of evidence for a central role of the dopaminergic system in cognitive integration, ASD, and cognitive control.
