1. Halbach NS, Smeets EE, Steinbusch C, Maaskant MA, van Waardenburg D, Curfs LM. {{Aging in Rett syndrome: a longitudinal study}}. {Clin Genet};2012 (Nov 20)
BACKGROUND: Little is known about the aging process of people with specific syndromes, like Rett syndrome (RTT). Recognition of the clinical and behavioral characteristics of the adult RTT is needed in order to improve future management of the RTT girl and counseling of parents. METHODS: In association with the Dutch RTT parent association, a five-year longitudinal study was carried out. The study population consisted of 53 adult women with a clinical diagnosis of RTT. Postal questionnaires were sent, including demographic features, skills, physical and psychiatric morbidity. RESULTS: At the time of the second measurement seven women had died. In 2012 80% of the questionnaires (37/46) were returned. Mean age of the women was 31.4 years. Molecular confirmation was possible for 83% of the women for whom analyses were carried out. The adult RTT woman has a more or less stable condition. The general disorder profile is that of a slow on-going deterioration of gross motor functioning in contrast to a better preserved cognitive functioning, less autonomic and epileptic features and good general health. CONCLUSIONS: This is the first longitudinal cohort study about aging in RTT. Continuing longitudinal studies are needed to gain more insight into the aging process in RTT.
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2. Heller T, Arnold CK, van Heumen L, McBride EL, Factor A. {{Self-directed Support: Impact of Hiring Practices on Adults with Intellectual and Developmental Disabilities and Families}}. {Am J Intellect Dev Disabil};2012 (Nov);117(6):464-477.
Abstract The study examined the differential experiences and outcomes for people with intellectual and developmental disabilities and their families receiving self-directed services based on the type of personal support worker hired (parents, siblings, other relatives, friends, and agency staff). The sample consisted of 372 participants in a self-directed waiver program who used personal assistance services. Results indicated that the caregiver’s satisfaction with the personal support worker, self-efficacy in managing personal support workers, and mental health varied significantly based on type of personal support worker hired. Also, the physical health and daily choice making of the adults with disabilities differed significantly by type of personal support worker hired.
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3. Kamio Y, Inada N, Moriwaki A, Kuroda M, Koyama T, Tsujii H, Kawakubo Y, Kuwabara H, Tsuchiya KJ, Uno Y, Constantino JN. {{Quantitative autistic traits ascertained in a national survey of 22 529 Japanese schoolchildren}}. {Acta Psychiatr Scand};2012 (Nov 22)
OBJECTIVE: Recent epidemiologic studies worldwide have documented a rise in prevalence rates for autism spectrum disorders (ASD). Broadening of diagnostic criteria for ASD may be a major contributor to the rise in prevalence, particularly if superimposed on an underlying continuous distribution of autistic traits. This study sought to determine the nature of the population distribution of autistic traits using a quantitative trait measure in a large national population sample of children. METHOD: The Japanese version of the Social Responsiveness Scale (SRS) was completed by parents on a nationally representative sample of 22 529 children, age 6-15. RESULTS: Social Responsiveness Scale scores exhibited a skewed normal distribution in the Japanese population with a single-factor structure and no significant relation to IQ within the normal intellectual range. There was no evidence of a natural ‘cutoff’ that would differentiate populations of categorically affected children from unaffected children. CONCLUSION: This study provides evidence of the continuous nature of autistic symptoms measured by the SRS, a validated quantitative trait measure. The findings reveal how paradigms for diagnosis that rest on arbitrarily imposed categorical cutoffs can result in substantial variation in prevalence estimation, especially when measurements used for case assignment are not standardized for a given population.
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4. Perkins EA, Berkman KA. {{Into the unknown: aging with autism spectrum disorders}}. {Am J Intellect Dev Disabil};2012 (Nov);117(6):478-496.
Abstract Research investigation of older adults with autism spectrum disorders (ASD) noticeably lags behind studies of children and younger adults with ASD. This article reviews the current literature regarding a range of quality of life outcomes of aging adults with ASD. Studies that have addressed life expectancy, comorbid physical and mental health issues, ASD symptomatology, and social, residential, and vocational outcomes are reviewed. Research challenges in identifying older cohorts of adults with ASD are also discussed, and notable areas of concern are highlighted. Overall, aging with ASD does present challenges, but there is also evidence that positive outcomes are attainable. The article concludes with brief recommendations on how to optimize the aging process for individuals with ASD.
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5. Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB. {{The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism}}. {Autism Res};2012 (Nov 20)
Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spectrum disorders (ASDs). Most recently, data suggest that overexpression of MECP2 may be related to ASD. To better characterize the relevance of MECP2 overexpression to ASD-related behaviors, we compared the core symptoms of ASD in MECP2 duplication syndrome to nonverbal mental age-matched boys with idiopathic ASD. Within the MECP2 duplication group, we further delineated aspects of the behavioral phenotype and also examined how duplication size and gene content corresponded to clinical severity. We compared ten males with MECP2 duplication syndrome (ages 3-10) with a chronological and mental age-matched sample of nine nonverbal males with idiopathic ASD. Our results indicate that boys with MECP2 duplication syndrome share the core behavioral features of ASD (e.g. social affect, restricted/repetitive behaviors). Direct comparisons of ASD profiles revealed that a majority of boys with MECP2 duplication syndrome are similar to idiopathic ASD; they have impairments in social affect (albeit to a lesser degree than idiopathic ASD) and similar severity in restricted/repetitive behaviors. Nonverbal mental age did not correlate with severity of social impairment or repetitive behaviors. Within the MECP2 duplication group, breakpoint size does not predict differences in clinical severity. In addition to social withdrawal and stereotyped behaviors, we also found that hyposensitivity to pain/temperature are part of the behavioral phenotype of MECP2 duplication syndrome. Our results illustrate that overexpression/increased dosage of MECP2 is related to core features of ASD. Autism Res 2012, : -. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.
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6. Piton A, Jouan L, Rochefort D, Dobrzeniecka S, Lachapelle K, Dion PA, Gauthier J, Rouleau GA. {{Analysis of the effects of rare variants on splicing identifies alterations in GABA(A) receptor genes in autism spectrum disorder individuals}}. {Eur J Hum Genet};2012 (Nov 21)
A large-scale sequencing screen of X-linked synaptic genes in individuals with autism spectrum disorder (ASD) or schizophrenia (SCZ), two common neurodevelopmental disorders, identified many variants most of which have no easily predictable effect on gene function. In this report, we evaluated the impact of these rare missense and silent variants on gene splicing. For this purpose, we used complementary in silico analyses, in vitro minigene-based assays and RNA prepared from lymphoblastoid cells derived from patients with these mutations. Our goal was to identify the variants which might either create or disrupt an acceptor splice site, a donor splice site or an exonic splicing enhancer, thus leading to aberrant splicing that could be involved in the pathogenesis of ASD or SCZ. We identified truncating mutations in distinct X-linked gamma-aminobutyric acid A (GABA(A)) receptor subunit-encoding genes, GABRQ and GABRA3, in two different families. Furthermore, missense and silent variants in nuclear RNA export factor 5 and histone deacetylase 6 were shown to partially disrupt the protein. While genes from the GABAergic pathway have previously been thought to be involved in the pathophysiology of ASD, this is the first report of ASD patients with truncating mutations in GABA receptors genes.European Journal of Human Genetics advance online publication, 21 November 2012; doi:10.1038/ejhg.2012.243.
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7. Tu WJ, Chen H, He J. {{Application of LC-MS/MS analysis of plasma amino acids profiles in children with autism}}. {J Clin Biochem Nutr};2012 (Nov);51(3):248-249.
