Pubmed du 22/08/19

jeudi 22 août 2019

1. Hubert L, Cannata Serio M, Villoing-Gaude L, Boddaert N, Kaminska A, Rio M, Lyonnet S, Munnich A, Poirier K, Simons M, Besmond C. De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures. Journal of medical genetics. 2019.

BACKGROUND : Autistic spectrum disorders (ASDs) with developmental delay and seizures are a genetically heterogeneous group of diseases caused by at least 700 different genes. Still, a number of cases remain genetically undiagnosed. OBJECTIVE : The objective of this study was to identify and characterise pathogenic variants in two individuals from unrelated families, both of whom presented a similar clinical phenotype that included an ASD, intellectual disability (ID) and seizures. METHODS : Whole-exome sequencing was used to identify pathogenic variants in the two individuals. Functional studies performed in the Drosophila melanogaster model was used to assess the protein function in vivo. RESULTS : Probands shared a heterozygous de novo secretory carrier membrane protein (SCAMP5) variant (NM_001178111.1:c.538G>T) resulting in a p.Gly180Trp missense variant. SCAMP5 belongs to a family of tetraspanin membrane proteins found in secretory and endocytic compartments of neuronal synapses. In the fly SCAMP orthologue, the p.Gly302Trp genotype corresponds to human p.Gly180Trp. Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect. CONCLUSION : Our study identifies SCAMP5 deficiency as a cause for ASD and ID and underscores the importance of synaptic vesicular trafficking in neurodevelopmental disorders.

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2. Keogh S, Bridle C, Siriwardena NA, Nadkarni A, Laparidou D, Durrant SJ, Kargas N, Law GR, Curtis F. Effectiveness of non-pharmacological interventions for insomnia in children with Autism Spectrum Disorder : A systematic review and meta-analysis. PLoS One. 2019 ; 14(8) : e0221428.

BACKGROUND : Autism spectrum disorders (ASD) are a set of neurodevelopmental disorders characterised by behavioural, communication and social impairments. The prevalence of sleep disturbances in children with ASD is 40-80%, with significant effects on quality of life for the children and carers. This systematic review aimed to synthesise evidence of the effects of behavioural interventions to improve sleep among children with ASD. METHODS : Databases (MEDLINE, PsycINFO, CINAHL, ScienceDirect, Autism Data, CENTRAL, and Current Controlled Trials) were searched for published, unpublished and ongoing randomised controlled trials evaluating the effect of non-pharmacological interventions for insomnia in children with autism spectrum conditions. RESULTS : Three studies met the inclusion criteria, one provided actigraphy data, one Children’s Sleep Habits Questionnaire (CSHQ) data, and one both actigraphy and CSHQ data for use in meta-analyses. There were significant differences between the behavioural intervention and comparison groups (actigraphy data) for total sleep time (24.41 minutes, 95% CI 5.71, 43.11, P = 0.01), sleep latency (-18.31 minutes, 95% CI -30.84, -5.77, P = 0.004) and sleep efficiency (5.59%, 95% CI 0.87, 10.31, P = 0.02). There was also a favourable intervention effect evident for the subjective CSHQ data (-4.71, 95% CI -6.70, -2.73, P<0.00001). Risk of bias was low across several key domains (randomisation, allocation concealment and reporting), with some studies being unclear due to poor reporting. CONCLUSIONS : There are very few high quality randomised controlled trials in this area. Here we provide initial synthesised quantitative evidence of the effectiveness of behavioural interventions for treating sleep problems in children with ASD. TRIAL REGISTRATION : Protocol was registered (CRD42017081784) on the International Prospective Register of Systematic Reviews (

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3. Pohl A, Jones WR, Marrus N, Zhang Y, Klin A, Constantino JN. Behavioral predictors of autism recurrence are genetically independent and influence social reciprocity : evidence that polygenic ASD risk is mediated by separable elements of developmental liability. Translational psychiatry. 2019 ; 9(1) : 202.

The preponderance of causal influence on total population attributable risk for autism is polygenic in nature, but it is not known how such liability engenders the development of the syndrome. In 348 epidemiologically ascertained toddler twins, we explored associations between autistic traits and three robust, highly heritable predictors of familial autism recurrence : variation in attention, motor coordination, and parental autistic trait burden. We observed that these predictors-despite collectively accounting for over one third of variance in clinical recurrence-are genetically independent in early childhood, and jointly account for a comparable share of inherited influence on early reciprocal social behavior in the general population. Thus, combinations of what are otherwise discrete, inherited behavioral liabilities-some not specific to autism-appear to jointly mediate common genetic risk for autism. Linking genetic variants and neural signatures to these independent traits prior to the onset of the development of autism will enhance understanding of mechanisms of causation in familial autistic syndromes. Moreover, ongoing biomarker discovery efforts will benefit from controlling for the effects of these common liabilities, which aggregate in individuals with autism but are also continuously distributed in "controls". Finally, early inherited liabilities that participate in the early ontogeny of autistic syndromes represent parsimonious intervention targets for polygenic forms of the condition, and represent candidate trans-diagnostic endophenotypes of potential relevance to a diversity of neuropsychiatric syndromes.

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4. Saban-Bezalel R, Mashal N. Different Factors Predict Idiom Comprehension in Children and Adolescents with ASD and Typical Development. J Autism Dev Disord. 2019.

Autism spectrum disorder (ASD) is associated with deficient comprehension of figurative language and, specifically, idioms. Theories ascribe this to deficits in specific abilities (e.g., Theory of Mind [ToM] ; executive functions [EF] ; general language skills), but no comprehensive theory has resulted. This study investigated the differential contribution of various abilities to idiom comprehension among children and adolescents with ASD compared to matched controls with typical development (TD). The TD group outperformed the ASD group in idiom comprehension. However, whereas EF predicted idiom comprehension in the TD group, vocabulary predicted idiom comprehension in the ASD group. Our findings emphasize the link between general language competence and figurative language comprehension in ASD and point to different processing mechanisms in each group.

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5. Sinai-Gavrilov Y, Gev T, Mor-Snir I, Golan O. Seeking Team Collaboration, Dialogue and Support : The Perceptions of Multidisciplinary Staff-Members Working in ASD Preschools. J Autism Dev Disord. 2019.


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6. Tse VWS, Crabtree J, Islam S, Stott J. Comparing Intellectual and Memory Abilities of Older Autistic Adults with Typically Developing Older Adults Using WAIS-IV and WMS-IV. J Autism Dev Disord. 2019.

This study aimed to compare cognitive and memory abilities between older adults with and without autism over the age of 50. Twenty-eight individuals with autism and 29 typically developing (TD) older adults took part in the current study. Participants’ cognitive and memory abilities were assessed by WAIS-IV and WMS-IV. Older autistic adults were found to have poorer performance in processing speed and visual working memory, but they performed at a similar level as TD controls in all other domains. Poorer processing speed and visual working memory are also often found to be associated with age-related decline in neurotypical adults. Longitudinal studies are warranted to explore how the combination of ageing and autism affects cognitive functioning in older adults.

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7. Williamson HJ, Brennan AC, Tress SF, Joseph DH, Baldwin JA. Exploring health and wellness among Native American adults with intellectual and/or developmental disabilities and their family caregivers. J Appl Res Intellect Disabil. 2019.

BACKGROUND : Adults with intellectual and/or developmental disabilities (IDD) experience health inequities, and those who also identify as a member of an ethnic minority group face additional health inequities. In the United States, a majority of adults with IDD continue to be supported by family caregivers making their health equity also important. The purpose of this study was to explore how Native American adults with IDD and their family caregivers experience health and wellness. METHOD : This community-engaged research was guided by a Community Advisory Board (CAB) with study participants completing a Photovoice project. RESULTS : Participants identified individual, family and community level influences on health and wellness including the importance of participation in meaningful activities and connection to culture. CONCLUSIONS : In order to address health inequities, more research is needed to understand health and wellness from the unique perspectives of individuals with IDD and those from racial and ethnic minority groups.

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