1. Barnevik Olsson M, Lundstrom S, Westerlund J, Giacobini MB, Gillberg C, Fernell E. {{Preschool to School in Autism: Neuropsychiatric Problems 8 Years After Diagnosis at 3 Years of Age}}. {J Autism Dev Disord};2016 (May 26)
The study presents neuropsychiatric profiles of children aged 11 with autism spectrum disorder, assessed before 4.5 years, and after interventions. The original group comprised a community sample of 208 children with ASD. Parents of 128 participated-34 with average intellectual function, 36 with borderline intellectual function and 58 with intellectual disability. They were interviewed using the Autism-Tics, AD/HD and other Comorbidities interview. Criteria for a clinical/subclinical proxy of ASD were met by 71, 89 and 95 %, respectively. Criteria for at least one of ASD, AD/HD, Learning disorder or Developmental Coordination Disorder were met by 82, 94 and 97 %. More than 90 % of children with a preschool diagnosis of ASD have remaining neuropsychiatric problems at 11, despite early intervention.
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2. Bennett M, Hodgson V. {{The missing voices of Indigenous Australians with autism in research}}. {Autism};2016 (May 25)
The purpose of this Letter to the Editor is to raise awareness among those who read Autism about the limited amount of peer-reviewed literature on Aboriginal and Torres Strait Islander Australians living on the autism spectrum. This letter summarises the results of our search on Pubmed and Google Scholar for peer-reviewed literature on this subject. It then concludes by explaining why more research should be conducted on Aboriginal and Torres Strait Islander Australians living on the autism spectrum.
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3. Brukner-Wertman Y, Laor N, Golan O. {{Social (Pragmatic) Communication Disorder and Its Relation to the Autism Spectrum: Dilemmas Arising From the DSM-5 Classification}}. {J Autism Dev Disord};2016 (May 26)
DSM-5 introduced two diagnoses describing neurodevelopmental deficits in social communication (SC); Autism Spectrum Disorder (ASD) and Social (Pragmatic) Communication Disorder (SPCD). These diagnoses are differentiated by Repetitive and Restricted Behaviors (RRB), required for an ASD diagnosis and absent in SPCD. We highlight the gaps between the research into SPCD and DSM-5’s diagnostic criteria, and discuss the clinical implications of this diagnostic decision. We argue that DSM-5’s demand for full manifestation of both SC and RRB axes when diagnosing ASD, prematurely forced a categorical view on the continual nature of the potentially dependent SC and RRB phenotypes. We conclude by highlighting the implications of this differential diagnostic decision on public health policies, designated therapy, and the need for further research regarding SPCD.
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4. Carpenter LA, Boan AD, Wahlquist AE, Cohen A, Charles J, Jenner W, Bradley CC. {{Screening and direct assessment methodology to determine the prevalence of autism spectrum disorders}}. {Ann Epidemiol};2016 (Apr 12)
PURPOSE: Findings from the Centers for Disease Control and Prevention-sponsored Autism and Developmental Disabilities Monitoring (ADDM) network suggest a growing prevalence of autism spectrum disorders (ASDs). The rigorous ADDM record review methodology has provided valuable insight into the epidemiology of autism spectrum disorder (ASD), but recent studies using alternative methods have reported significantly higher prevalence estimates. The South Carolina Children’s Educational Surveillance Study (SUCCESS) was designed to determine ASD prevalence via population-based screening and direct assessment and to compare prevalence results to ADDM and administrative prevalence counts. This article provides an overview of the methods used for this study. METHODS: SUCCESS involved a novel (first in the United States) population-based screening approach combined with direct assessment to determine ASD prevalence. RESULTS: SUCCESS results will be compared to those obtained via records-based surveillance (ADDM) and administrative counts in the same population of children. This article describes the methods for developing and implementing SUCCESS and rationale for major decisions. Procedures used to maximize participation and accurately determine case status are discussed. Study results will be available in 2016. CONCLUSIONS: Accurate reporting of ASD prevalence is important to researchers, health care providers, policy makers, and families. This study will clarify the findings of various methods used to estimate ASD prevalence.
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5. Hofer J, Hoffmann F, Bachmann C. {{Use of complementary and alternative medicine in children and adolescents with autism spectrum disorder: A systematic review}}. {Autism};2016 (May 25)
Despite limited evidence, complementary and alternative medicine treatments are popular in autism spectrum disorder. The aim of this review was to summarize the available evidence on complementary and alternative medicine use frequency in autism spectrum disorder. A systematic search of three electronic databases was performed. All research studies in English or German reporting data on the frequency of complementary and alternative medicine use in individuals with autism spectrum disorder were included. Two independent reviewers searched the literature, extracted information on study design and results, and assessed study quality using an established quality assessment tool. Twenty studies with a total of 9540 participants were included. The prevalence of any complementary and alternative medicine use ranged from 28% to 95% (median: 54%). Special diets or dietary supplements (including vitamins) were the most frequent complementary and alternative medicine treatments, ranking first in 75% of studies. There was some evidence for a higher prevalence of complementary and alternative medicine use in autism spectrum disorder compared to other psychiatric disorders and the general population. Approximately half of children and adolescents with autism spectrum disorder use complementary and alternative medicine. Doctors should be aware of this and should discuss complementary and alternative medicine use with patients and their carers, especially as the evidence is mixed and some complementary and alternative medicine treatments are potentially harmful.
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6. Lee JS, Yoo Y, Lim BC, Kim KJ, Song J, Choi M, Chae JH. {{GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype}}. {Am J Med Genet A};2016 (May 27)
There have been a few reports of GM3 synthase deficiency since the disease of the ganglioside biosynthetic pathway was first reported in 2004. It is characterized by infantile-onset epilepsy with severe intellectual disability, blindness, cutaneous dyspigmentation, and choreoathetosis. Here we report the cases of two Korean female siblings with ST3GAL5 variants, who presented with a Rett-like phenotype. They had delayed speech, hand stereotypies with a loss of purposeful hand movements, and choreoathetosis, but no clinical seizures. One of them had microcephaly, while the other had small head circumference less than 10th centile. There were no abnormal laboratory findings with the exception of a high lactate level. MECP2/CDKL5/FOXG1 genetic tests with an array comparative genomic hybridization revealed no molecular defects. Through whole-exome sequencing of the proband, we found compound heterozygous ST3GAL5 variants (p.Gly201Arg and p.Cys195Ser), both of which were novel. The siblings were the same compound heterozygotes and their unaffected parents were heterozygous carriers of each variant. Liquid chromatography-mass spectrometry analysis confirmed a low level of GM3 and its downstream metabolites, indicating GM3 synthase deficiency. These cases expanded the clinical and genetic spectrum of the ultra-rare disease, GM3 synthase deficiency with ST3GAL5 variants. (c) 2016 Wiley Periodicals, Inc.
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7. Parletta N, Niyonsenga T, Duff J. {{Omega-3 and Omega-6 Polyunsaturated Fatty Acid Levels and Correlations with Symptoms in Children with Attention Deficit Hyperactivity Disorder, Autistic Spectrum Disorder and Typically Developing Controls}}. {PLoS One};2016;11(5):e0156432.
BACKGROUND: There is evidence that children with Attention Deficit Hyperactivity Disorder (ADHD) and Autistic Spectrum Disorder (ASD) have lower omega-3 polyunsaturated fatty acid (n-3 PUFA) levels compared with controls and conflicting evidence regarding omega-6 (n-6) PUFA levels. OBJECTIVES: This study investigated whether erythrocyte n-3 PUFAs eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) were lower and n-6 PUFA arachidonic acid (AA) higher in children with ADHD, ASD and controls, and whether lower n-3 and higher n-6 PUFAs correlated with poorer scores on the Australian Twin Behaviour Rating Scale (ATBRS; ADHD symptoms) and Test of Variable Attention (TOVA) in children with ADHD, and Childhood Autism Rating Scale (CARS) in children with ASD. METHODS: Assessments and blood samples of 565 children aged 3-17 years with ADHD (n = 401), ASD (n = 85) or controls (n = 79) were analysed. One-way ANOVAs with Tukey’s post-hoc analysis investigated differences in PUFA levels between groups and Pearson’s correlations investigated correlations between PUFA levels and ATBRS, TOVA and CARS scores. RESULTS: Children with ADHD and ASD had lower DHA, EPA and AA, higher AA/EPA ratio and lower n-3/n-6 than controls (P<0.001 except AA between ADHD and controls: P = 0.047). Children with ASD had lower DHA, EPA and AA than children with ADHD (P<0.001 for all comparisons). ATBRS scores correlated negatively with EPA (r = -.294, P<0.001), DHA (r = -.424, P<0.001), n-3/n-6 (r = -.477, P<0.001) and positively with AA/EPA (r = .222, P <.01). TOVA scores correlated positively with DHA (r = .610, P<0.001), EPA (r = .418, P<0.001) AA (r = .199, P<0.001), and n-3/n-6 (r = .509, P<0.001) and negatively with AA/EPA (r = -.243, P<0.001). CARS scores correlated significantly with DHA (r = .328, P = 0.002), EPA (r = -.225, P = 0.038) and AA (r = .251, P = 0.021). CONCLUSIONS: Children with ADHD and ASD had low levels of EPA, DHA and AA and high ratio of n-6/n-3 PUFAs and these correlated significantly with symptoms. Future research should further investigate abnormal fatty acid metabolism in these disorders. Lien vers le texte intégral (Open Access ou abonnement)
8. Rapp JT, Gunby K. {{Task interspersal for individuals with autism and other neurodevelopmental disorders}}. {J Appl Behav Anal};2016 (May 27)
This paper reviews recent studies on task interspersal (TI) for increasing skill acquisition in children who have been diagnosed with autism spectrum disorders and other neurodevelopmental disorders. We highlight some limitations of these studies and provide specific recommendations for future research on TI procedures.
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9. Smith L, Malcolm-Smith S, de Vries PJ. {{Translation and cultural appropriateness of the Autism Diagnostic Observation Schedule-2 in Afrikaans}}. {Autism};2016 (May 25)
Autism Diagnostic Observation Schedule-2 is the ‘gold standard’ autism spectrum disorder observational assessment, and it is increasingly used in South Africa. However, its use is limited to English speakers, as it has not been translated into the country’s other 10 official languages. Moreover, the cultural appropriateness of this tool has not been explored in South Africa. The Autism Diagnostic Observation Schedule-2 was translated into Afrikaans and assessed for cultural appropriateness to the ‘coloured’ population from low-middle socioeconomic status backgrounds in the Western Cape Province. Using a mixed-methods approach, three components associated with method bias in the Autism Diagnostic Observation Schedule-2 were investigated: language used, social interactions and activities, and materials. An ethnographic investigation of play, social interaction and social activities was conducted in a community sample (n = 40), and the Afrikaans Autism Diagnostic Observation Schedule-2 was pre-piloted in a clinical sample (n = 7). Results highlighted unique aspects of the language (‘Kaaps’) that need to be considered during Autism Diagnostic Observation Schedule-2 administration. The social interaction demands of the Autism Diagnostic Observation Schedule-2 appeared appropriate, and sufficient familiarity with Autism Diagnostic Observation Schedule-2 materials and activities was found to support the use of the Autism Diagnostic Observation Schedule-2. Guidelines for administration of the Autism Diagnostic Observation Schedule-2 to this population were generated to improve cultural sensitivity and cultural appropriateness and to reduce method bias.
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10. White D, Hillier A, Frye A, Makrez E. {{College Students’ Knowledge and Attitudes Towards Students on the Autism Spectrum}}. {J Autism Dev Disord};2016 (May 26)
Young adults with autism spectrum disorder (ASD) are attending university in increasing numbers. The importance of acceptance from peers and integration into the university have been recognized as key factors for success. We examined university students’ knowledge and attitudes towards students with ASD, underlying factors that contributed to such attitudes, and whether attitudes changed across two cohorts 5-years apart. The later cohort demonstrated greater knowledge and more positive attitudes toward students with ASD compared to students in the first cohort. However, knowledge was not found to be a significant predictor of attitudes and many students who were knowledgeable about ASD still reported negative attitudes toward participating in university and classroom based activities with students with ASD.
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11. Zurek AA, Kemp SW, Aga Z, Walker S, Milenkovic M, Ramsey AJ, Sibille E, Scherer SW, Orser BA. {{alpha5GABAA receptor deficiency causes autism-like behaviors}}. {Ann Clin Transl Neurol};2016 (May);3(5):392-398.
The prevalence of autism spectrum disorders (ASDs), which affect over 1% of the population, has increased twofold in recent years. Reduced expression of GABAA receptors has been observed in postmortem brain tissue and neuroimaging of individuals with ASDs. We found that deletion of the gene for the alpha5 subunit of the GABAA receptor caused robust autism-like behaviors in mice, including reduced social contacts and vocalizations. Screening of human exome sequencing data from 396 ASD subjects revealed potential missense mutations in GABRA5 and in RDX, the gene for the alpha5GABAA receptor-anchoring protein radixin, further supporting a alpha5GABAA receptor deficiency in ASDs.
