1. {{Novel mutations in autism highlight the importance of genetic and environmental contexts in studies of humanneurodevelopment}}. {Clin Genet};2011 (Aug 5)
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. O’Roak BJ et al, Nature Genetics, 2011 Jun;43(6):585-9. Epub 2011 May 15.
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2. Bent S, Bertoglio K, Ashwood P, Nemeth E, Hendren RL. {{Brief Report: Hyperbaric Oxygen Therapy (HBOT) in Children with Autism Spectrum Disorder: A Clinical Trial}}. {J Autism Dev Disord};2011 (Aug 5)
We sought to determine whether HBOT leads to parental reported behavioral changes and alterations in cytokines in children with ASD. Ten children completed 80 sessions of HBOT and all improved by 2 points on the clinician-rated CGI-I scale (much improved) as well as several parent-completed measures of behavior. The lack of a control group limits the ability to determine if improvements were related to HBOT. Enrolled children did not exhibit abnormal cytokine levels at baseline and no significant changes in mean cytokine levels were observed. Although this study was limited by the small sample size and by the variable nature of cytokines, we found no evidence that HBOT affects cytokine levels or that cytokine levels were associated with behavioral changes.
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3. Early MC, Erickson CA, Wink LK, McDougle CJ, Scott EL. {{Case Report: 16-Year-Old Male with Autistic Disorder with Preoccupation with Female Feet}}. {J Autism Dev Disord};2011 (Aug 5)
This paper highlights clinical challenges faced when diagnosing and then treating an individual presenting to a child and adolescent psychiatry clinic because of unwelcome comments he made to female peers about their feet. Novel use of exposure therapy helped him effectively decrease his comments from 1 to 2 times per month to once every 6 months. Conceptualizing this case as the individual’s failed attempts toward relationships with females instead of sexual harassment led to diminution of problematic behavior. Implications for diagnosis and treatment of individuals with Autistic Disorder displaying problematic behaviors are presented.
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4. Faucz FR, Souza J, Filho AB, Sotomaior VS, Frantz E, Antoniuk S, Rosenfeld JA, Raskin S. {{Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome?}}. {Am J Med Genet A};2011 (Aug 3)
In the neurodevelopmentally impaired population the frequency of small supernumerary marker chromosomes (sSMC) is about 0.3%. To find the origin of a sSMC in a 4-year-old boy with Asperger syndrome (AS) a microarray-based comparative genomic hybridization (aCGH), using a 135K-feature whole-genome microarray, and Metaphase FISH analysis, was performed. The sSMC was characterized as being composed of 18.4 Mb from 19p12q13.11. Based on the size and genic content, it is expected that the partial trisomy detected is responsible for the characteristics observed in the patient. In that case it could be an indication of a novel locus associated with AS. (c) 2011 Wiley-Liss, Inc.
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5. Ghuman JK, Leone SL, Lecavalier L, Landa RJ. {{The screen for social interaction (SSI): A screening measure for autism spectrum disorders in preschoolers}}. {Res Dev Disabil};2011 (Aug 5)
We report on the preliminary validity and utility of the Ghuman-Folstein Screen for Social Interaction (SSI), a measure of social interaction that can serve to screen for autism spectrum disorders (ASDs) in clinical samples of young high-risk children. Caregivers of 350 children (176 younger participants, ages 24-42 months, mean age=34.1 months; and 174 older participants, ages 43 to 61 months, mean age=52.4 months) with ASDs, non-ASD developmental and/or psychiatric disorders, or without developmental concerns completed the SSI. A series of analyses resulted in shortened versions of the SSI: a 26-item SSI-Younger (SSI-Y) and a 21-item SSI-Older (SSI-O) version. The SSI-Y and SSI-O showed moderate convergence with ASD diagnostic measures and significantly differentiated ASD and non-ASD clinical groups. Sensitivity and specificity values for discriminating ASD and non-ASD clinical participants were 0.87 and 0.71, respectively for the SSI-Y and 0.81 and 0.70, respectively for the SSI-O. Scoring recommendations were made based on the ROC results.
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6. Lickel A, Maclean WE, Jr., Blakeley-Smith A, Hepburn S. {{Assessment of the Prerequisite Skills for Cognitive Behavioral Therapy in Children with and Without Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (Aug 5)
The purpose of this study was to assess the cognitive skills of children with autism spectrum disorders (ASD) thought to be necessary for Cognitive Behavioral Therapy (CBT). Forty children with ASD and forty age-matched typically developing children between the ages of 7-12 years participated. Groups were comparable with regard to nonverbal IQ, but children with ASD had significantly lower verbal IQ. Children completed three CBT-related tasks requiring emotion recognition, discrimination among thoughts, feelings and behaviors, and cognitive mediation. With the exception of the emotion recognition task, children with ASD performed comparably to typically developing children and with a high rate of accuracy.
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7. Lugnegard T, Hallerback MU, Gillberg C. {{Personality disorders and autism spectrum disorders: what are the connections?}}. {Compr Psychiatry};2011 (Aug 5)
BACKGROUND: The relationship between autism spectrum disorders/pervasive developmental disorders and personality disorders is not completely clear, although both concepts imply lifelong impairment. The purpose of the present study was to investigate the presence of possible personality disorders in a group of young adults with Asperger syndrome. METHOD: Fifty-four young adults with a clinical diagnosis of Asperger syndrome were assessed with Structured Clinical Interview for DSM-IV Axis II disorders to evaluate the presence of a concomitant personality disorder and completed the Autism Spectrum Quotient to measure level of autistic features. Autism spectrum diagnosis was confirmed by Diagnostic Interview for Social and Communication Disorders with a collateral informant. RESULTS: Approximately half of the study group fulfilled criteria for a personality disorder, all belonging to cluster A or C. There was a significant difference across sex: men with Asperger syndrome meeting personality disorder criteria much more often than women with Asperger syndrome (65% vs 32%). Participants fulfilling criteria for a personality disorder showed more marked autistic features according to the Autism Spectrum Quotient. CONCLUSIONS: There is a considerable overlap in symptoms between Asperger syndrome and certain personality disorders. Similarities and differences of the two concepts are discussed in the framework of the Diagnostic and Statistical Manual of Mental Disorders classification system.
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8. Mandell D. {{The heterogeneity in clinical presentation among individuals on the autism spectrum is a remarkably puzzling facet of this set of disorders}}. {Autism};2011 (May);15(3):259-261.
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9. Marcus RN, Owen R, Manos G, Mankoski R, Kamen L, McQuade RD, Carson WH, Findling RL. {{Safety and tolerability of aripiprazole for irritability in pediatric patients with autistic disorder: a 52-week, open-label, multicenter study}}. {J Clin Psychiatry};2011 (Jul 26)
OBJECTIVE: Evaluate the long-term safety and tolerability of aripiprazole in the treatment of irritability in pediatric subjects (6-17 years) with autistic disorder. METHOD: A 52-week, open-label, flexibly dosed (2-15 mg/d) study of the safety and tolerability of aripiprazole in outpatients with a DSM-IV-TR diagnosis of autistic disorder who either had completed 1 of 2 antecedent, 8-week randomized trials or were enrolled de novo (ie, not treated in the randomized trials). Safety and tolerability measures included incidences of adverse events, extrapyramidal symptoms, weight, metabolic measures, vital signs, and other clinical assessments. RESULTS: Subjects were enrolled between September 2006 and June 2009. Three hundred thirty subjects entered the treatment phase: 86 de novo, 174 prior aripiprazole, and 70 prior placebo. A total of 199 (60.3%) subjects completed 52 weeks of treatment. Adverse events were experienced by 286/330 subjects (86.7%). Common adverse events included weight increase, vomiting, nasopharyngitis, increased appetite, pyrexia, upper respiratory tract infection, and insomnia. Discontinuations due to adverse events occurred in 35/330 randomized subjects (10.6%)-most commonly aggression and weight increase. One patient discontinued from the study due to a laboratory-related adverse event (moderately increased alanine transaminase and aspartate transaminase). Nine subjects experienced serious adverse events-most frequently aggression. Extrapyramidal symptoms-related adverse events occurred in 48/330 subjects (14.5%)-most commonly tremor (3.0%), psychomotor hyperactivity (2.7%), akathisia (2.4%), and dyskinesia (not tardive, 2.4%). At > 9 months’ aripiprazole exposure (n = 220), mean change in body weight z score was 0.33 and body mass index z score was 0.31. The percentages of subjects with clinically significant fasting metabolic abnormalities at > 9 months were 2% for glucose, 5% for total cholesterol, 7% for low-density lipoprotein cholesterol, 30% for high-density lipoprotein cholesterol, and 5% for triglycerides. CONCLUSIONS: Aripiprazole was generally safe and well tolerated in the long-term treatment of irritability associated with autistic disorder in pediatric subjects. Weight should be proactively monitored during long-term treatment. TRIAL REGISTRATION: clinical trials.gov Identifier: NCT00365859.
