Pubmed du 02/10/22
1. Traditional Chinese medicine intervention for autism spectrum disorders: A protocol for systematic review and network meta-analysis: Retraction. Medicine (Baltimore);2022 (Sep 30);101(39):e29825.
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2. Bloor D, Ballantyne C, Gillespie-Smith K, Wilson C, Hendry G. Investigating the challenges of teaching sex education to autistic learners: A qualitative exploration of teachers’ experiences. Res Dev Disabil;2022 (Sep 28);131:104344.
BACKGROUND: Sex education is essential as it equips individuals with the knowledge to live independent and safe sex lives. However, in the United Kingdom, sex education is not particularly accessible for autistic learners which may lead to a lack of knowledge around appropriate sexual behaviours. AIMS: The current study focusses on the challenges of teaching sex education to autistic learners. METHODS AND PROCEDURES: The data was produced through one-to-one interviews with thirteen educational practitioners that have experienced delivering sex education to autistic learners. OUTCOMES AND RESULTS: Reflexive thematic analysis (Braun & Clarke, 2006) was used to interpret the data, producing themes of (1) Pedagogical Restrictions, and (2) Sexual Impulses. CONCLUSIONS AND IMPLICATIONS: These findings demonstrated that the main challenges of teaching sex education to autistic learners pertained to Pedagogical Restrictions in the classroom, and learners’ own sexual impulses. These findings are a positive step towards understanding how to adapt sex education lessons to make them more inclusive and accessible for learners with autism. This study contributes to developing understanding around how to support autistic learners, highlighting gaps in the current sex education curriculum for policy makers, and enabling those surrounding autistic individuals to best support them with body transformations.
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3. Dingemans AJM, Truijen KMG, van de Ven S, Bernier R, Bongers E, Bouman A, de Graaff-Herder L, Eichler EE, Gerkes EH, De Geus CM, van Hagen JM, Jansen PR, Kerkhof J, Kievit AJA, Kleefstra T, Maas SM, de Man SA, McConkey H, Patterson WG, Dobson AT, Prijoles EJ, Sadikovic B, Relator R, Stevenson RE, Stumpel C, Heijligers M, Stuurman KE, Löhner K, Zeidler S, Lee JA, Lindy A, Zou F, Tedder ML, Vissers L, de Vries BBA. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8. Transl Psychiatry;2022 (Oct 1);12(1):421.
CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and macrocephaly (IDDAM), the syndrome caused by pathogenic variants in CHD8, consists of a broad range of phenotypic abnormalities. We collected and reviewed 106 individuals with IDDAM, including 36 individuals not previously published, thus enabling thorough genotype-phenotype analyses, involving the CHD8 mutation spectrum, characterization of the CHD8 DNA methylation episignature, and the systematic analysis of phenotypes collected in Human Phenotype Ontology (HPO). We identified 29 unique nonsense, 25 frameshift, 24 missense, and 12 splice site variants. Furthermore, two unique inframe deletions, one larger deletion (exons 26-28), and one translocation were observed. Methylation analysis was performed for 13 patients, 11 of which showed the previously established episignature for IDDAM (85%) associated with CHD8 haploinsufficiency, one analysis was inconclusive, and one showing a possible gain-of-function signature instead of the expected haploinsufficiency signature was observed. Consistent with previous studies, phenotypical abnormalities affected multiple organ systems. Many neurological abnormalities, like intellectual disability (68%) and hypotonia (29%) were observed, as well as a wide variety of behavioural abnormalities (88%). Most frequently observed behavioural problems included autism spectrum disorder (76%), short attention span (32%), abnormal social behaviour (31%), sleep disturbance (29%) and impaired social interactions (28%). Furthermore, abnormalities in the digestive (53%), musculoskeletal (79%) and genitourinary systems (18%) were noted. Although no significant difference in severity was observed between males and females, individuals with a missense variant were less severely affected. Our study provides an extensive review of all phenotypic abnormalities in patients with IDDAM and provides clinical recommendations, which will be of significant value to individuals with a pathogenic variant in CHD8, their families, and clinicians as it gives a more refined insight into the clinical and molecular spectrum of IDDAM, which is essential for accurate care and counselling.
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4. Pagoni P, Dardani C, Leppert B, Korologou-Linden R, Smith GD, Howe LD, Anderson EL, Stergiakouli E. Exploring the causal effects of genetic liability to ADHD and Autism on Alzheimer’s disease. Transl Psychiatry;2022 (Oct 1);12(1):422.
Few studies suggest possible links between attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and Alzheimer’s disease but they have been limited by small sample sizes, diagnostic and recall bias. We used two-sample Mendelian randomization (MR) to estimate the bidirectional causal association between genetic liability to ADHD and ASD on Alzheimer’s disease. In addition, we estimated the causal effects independently of educational attainment and IQ, through multivariable Mendelian randomization (MVMR). We employed genetic variants associated with ADHD (20,183 cases/35,191 controls), ASD (18,381 cases/27,969 controls), Alzheimer’s disease (71,880 cases/383,378 controls), educational attainment (n = 766,345) and IQ (n = 269,867) using the largest GWAS of European ancestry. There was limited evidence to suggest a causal effect of genetic liability to ADHD (odds ratio [OR] = 1.00, 95% CI: 0.98-1.02, P = 0.39) or ASD (OR = 0.99, 95% CI: 0.97-1.01, P = 0.70) on Alzheimer’s disease. Similar causal effect estimates were identified as direct effects, independent of educational attainment (ADHD: OR = 1.00, 95% CI: 0.99-1.01, P = 0.76; ASD: OR = 0.99, 95% CI: 0.98-1.00, P = 0.28) and IQ (ADHD: OR = 1.00, 95% CI: 0.99-1.02. P = 0.29; ASD: OR = 0.99, 95% CI: 0.98-1.01, P = 0.99). Genetic liability to Alzheimer’s disease was not found to have a causal effect on risk of ADHD or ASD (ADHD: OR = 1.12, 95% CI: 0.86-1.44, P = 0.37; ASD: OR = 1.19, 95% CI: 0.94-1.51, P = 0.14). We found limited evidence to suggest a causal effect of genetic liability to ADHD or ASD on Alzheimer’s disease; and vice versa.
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5. Todd JT, Bahrick LE. Individual Differences in Multisensory Attention Skills in Children with Autism Spectrum Disorder Predict Language and Symptom Severity: Evidence from the Multisensory Attention Assessment Protocol (MAAP). J Autism Dev Disord;2022 (Oct 1)
Children with autism spectrum disorders (ASD) show atypical attention, particularly for social events. The new Multisensory Attention Assessment Protocol (MAAP) assesses fine-grained individual differences in attention disengagement, maintenance, and audiovisual matching for social and nonsocial events. We investigated the role of competing stimulation on attention, and relations with language and symptomatology in children with ASD and typical controls. Findings revealed: (1) the MAAP differentiated children with ASD from controls, (2) greater attention to social events predicted better language for both groups and lower symptom severity in children with ASD, (3) different pathways from attention to language were evident in children with ASD versus controls. The MAAP provides an ideal attention assessment for revealing diagnostic group differences and relations with outcomes.
