1. Anderson L. {{Schooling for Pupils with Autism Spectrum Disorder: Parents’ Perspectives}}. {J Autism Dev Disord}. 2020.
The current study, based on a survey of 1799 parents, explored parental perspectives of school absence in relation to approved grades, challenges, demands and obstacles in education for children with autism spectrum disorder. The results revealed a relatively high rate of school absenteeism for reasons other than illness. Girls had higher rates of absenteeism than boys for short durations of absence. Absenteeism was primarily caused by a lack of teacher competence regarding autism and inadequate adaptation of teaching. There were no significant differences between genders in approved grades, but the rate of failure to achieve approved grades was approximately 50%. The most common form of educational support was support from special needs teachers and adapted pedagogy.
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2. Gao F, Huang W, You Y, Huang J, Zhao J, Xue J, Kang H, Zhu Y, Hu Z, Allen EG, Jin P, Xia K, Duan R. {{Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy}}. {Molecular genetics & genomic medicine}. 2020: e1236.
BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability caused by a CGG repeat expansion in the 5′ untranslated region of the FMR1 gene. When the number of repeats exceeds 200, the gene becomes hypermethylated and is transcriptionally silenced, resulting in FXS. Other allelic forms of the gene that are studied because of their instability or phenotypic consequence include intermediate alleles (45-54 CGG repeats) and premutation alleles (55-200 repeats). Normal alleles are classified as having <45 CGG repeats. Population screening studies have been conducted among American and Australian populations; however, large population-based studies have not been completed in China. METHODS AND RESULTS: In this work we present FXS screening results from 10,145 women of childbearing age from China. We first created and tested a standard panel that was comprised of normal, intermediate, premutation, and full mutation samples, and we performed the screening after confirming the consistency of genotyping results among laboratories. CONCLUSION: Based on our findings, we have determined the intermediate and premutation carrier prevalence of 1/130 and 1/634, respectively, among Chinese women. Lien vers le texte intégral (Open Access ou abonnement)
3. Kerr-Gaffney J, Mason L, Jones E, Hayward H, Ahmad J, Harrison A, Loth E, Murphy D, Tchanturia K. {{Emotion Recognition Abilities in Adults with Anorexia Nervosa are Associated with Autistic Traits}}. {J Clin Med}. 2020; 9(4).
Difficulties in socio-emotional functioning are proposed to contribute to the development and maintenance of anorexia nervosa (AN). This study aimed to examine emotion recognition abilities in individuals in the acute and recovered stages of AN compared to healthy controls (HCs). A second aim was to examine whether attention to faces and comorbid psychopathology predicted emotion recognition abilities. The films expressions task was administered to 148 participants (46 AN, 51 recovered AN, 51 HC) to assess emotion recognition, during which attention to faces was recorded using eye-tracking. Comorbid psychopathology was assessed using self-report questionnaires and the Autism Diagnostic Observation Schedule-2nd edition (ADOS-2). No significant differences in emotion recognition abilities or attention to faces were found between groups. However, individuals with a lifetime history of AN who scored above the clinical cut-off on the ADOS-2 displayed poorer emotion recognition performance than those scoring below cut-off and HCs. ADOS-2 scores significantly predicted emotion recognition abilities while controlling for group membership and intelligence. Difficulties in emotion recognition appear to be associated with high autism spectrum disorder (ASD) traits, rather than a feature of AN. Whether individuals with AN and high ASD traits may require different treatment strategies or adaptations is a question for future research.
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4. Kinnaird E, Stewart C, Tchanturia K. {{The relationship of autistic traits to taste and olfactory processing in anorexia nervosa}}. {Mol Autism}. 2020; 11(1): 25.
BACKGROUND: There is a heightened prevalence of autism in anorexia nervosa (AN) compared to the general population. Autistic people with AN experience a longer illness duration and poorer treatment outcomes. Whether sensory differences in autism could contribute to altered taste and smell as a potential maintaining factor in AN is under-explored. The aim of this study was to explore whether autistic traits are associated with taste and olfaction differences in AN. METHODS: The study recruited n = 40 people with AN, and n = 40 healthy controls (HC). Smell sensitivity was measured using the Sniffin’ Sticks test. Taste sensitivity was measured using taste strips. Participants self-rated their autistic traits using the Autism Spectrum Quotient. RESULTS: There were no significant differences on taste and olfactory outcomes between people with AN and HC. These findings did not change after controlling for the heightened levels of autistic traits in the AN group. No relationship between taste and smell outcomes and autistic traits were identified within the AN group. LIMITATIONS: The current study is not able to draw conclusions about taste and smell processing in co-occurring autism and AN as it only measured levels of autistic traits, rather than comparing people with and without an autism diagnosis. CONCLUSIONS: No significant associations between autistic traits and taste and smell processing in AN were identified. Future research should consider further exploring this area, including by comparing autistic women to women with AN.
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5. Sauna-Aho O, Bjelogrlic-Laakso N, Rautava P, Arvio M. {{Ageing and cognition in men with fragile X syndrome}}. {J Appl Res Intellect Disabil}. 2020.
BACKGROUND: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. The aim of our longitudinal study was to describe ageing-related cognitive changes in men with FXS. METHOD: A neuropsychologist determined the raw scores (RSs) of 19 men with FXS twice with the Leiter International Performance Scale at an average interval of 22 years. The ages of the participants at baseline ranged from 16 to 50 (mean 27) years. RESULTS: At follow-up, the RSs improved in two men, remained the same in two men and declined in 15 men. Overall, the RS of the study group deteriorated by an average 4 points in RSs (p < .001). CONCLUSION: Cognitive ageing in men with FXS started earlier than that in men in the general population; in many cases, cognitive ageing in men with FXS began before middle age, usually without any medical or other underlying cause. Lien vers le texte intégral (Open Access ou abonnement)
6. Sivamaruthi BS, Suganthy N, Kesika P, Chaiyasut C. {{The Role of Microbiome, Dietary Supplements, and Probiotics in Autism Spectrum Disorder}}. {Int J Environ Res Public Health}. 2020; 17(8).
Autism spectrum disorder (ASD) is a serious neurodevelopmental disorder characterized by the impairment of the cognitive function of a child. Studies suggested that the intestinal microbiota has a critical role in the function and regulation of the central nervous system, neuroimmune system and neuroendocrine system. Any adverse changes in the gut-brain axis may cause serious disease. Food preferences and dietary patterns are considered as key in influencing the factors of ASD development. Several recent reviews narrated the importance of dietary composition on controlling or reducing the ASD symptoms. It has been known that the consumption of probiotics confers several health benefits by positive amendment of gut microbiota. The influence of probiotic intervention in children with ASD has also been reported and it has been considered as an alternative and complementary therapeutic supplement for ASD. The present manuscript discusses the role of microbiota and diet in the development of ASD. It also summarizes the recent updates on the influence of dietary supplements and the beneficial effect of probiotics on ASD symptoms. An in-depth literature survey suggested that the maternal diet and lifestyle are greatly associated with the development of ASD and other neurodevelopmental disorders. Mounting evidences have confirmed the alteration in the gut microbial composition in children suffering from ASD. However, the unique profile of microbiome has not yet been fully characterized due to the heterogeneity of patients. The supplementation of probiotics amended the symptoms associated with ASD but the results are inconclusive. The current study recommends further detailed research considering the role of microbiome, diet and probiotics in the development and control of ASD.
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7. Thorsteinsson EB, Draper A, Lykins AD. {{To Vaccinate or Not: The Relative Impact of Attitudes toward Autism Spectrum Disorders and the Ability to Interpret Scientific Information on Vaccination Decisions}}. {Int J Environ Res Public Health}. 2020; 17(7).
BACKGROUND: This pilot study investigated vaccine decision making, i.e., the relationships between knowledge and attitudes towards autism spectrum disorders (ASD), scientific literacy, attitudes toward the (MMR) vaccine, and children’s MMR vaccination status. METHODS: A sample of 132 parents and expectant parents (mean age 38.40 years; >60% with university education) participated in a survey where they were asked about their knowledge of ASD, attitudes towards ASD and MMR, and their children’s MMR vaccine status. The participants also completed a standardized science test (The American College Test) to test their scientific literacy. RESULTS: Knowledge of ASD was positively correlated with attitudes towards ASD. Attitudes towards ASD were positively correlated with scientific literacy and attitudes towards MMR. Attitudes towards MMR were positively correlated with MMR vaccine status (i.e., vaccination decision). DISCUSSION: Factors other than scientific literacy seem to contribute towards children’s MMR vaccine status such as attitudes towards MMR. However, these are preliminary findings and need to be interpreted with caution.
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8. Wang Y, Xu Q, Zuo C, Zhao L, Hao L. {{Longitudinal Changes of Cerebellar Thickness in Autism Spectrum Disorder}}. {Neurosci Lett}. 2020: 134949.
Many studies have reported abnormal cerebellar volume in patients with autism spectrum disorder (ASD) and that this abnormal volume can change with age. In the present study, we used CERES, an automated and reliable quantitative analysis tool, and adopted a longitudinal design to examine developmental changes in the cerebellar lobular thickness in ASD and quantified the relationship between cerebellar thickness development and clinical symptoms. Nineteen individuals with ASD (16 males; age, 12.53 +/- 2.34 years at baseline, interval: 2.33 years) and 14 typically developing controls (TD; 12 males; age, 13.50 +/- 1.77 years at baseline, interval: 2.31 years) underwent T1-weighted magnetic resonance imaging at two time points. To explore the relationship between cerebellar lobular thickness and the symptoms of ASD, the correlation of Autism Diagnostic Observation Schedule (ADOS) score with lobular thickness data was calculated. The cerebellar lobule thickness decreased in the right Crus II and the Crus II asymmetry was reduced in individuals with ASD. The reduction in lobular thickness and the asymmetry in Crus II were associated with the severity of stereotyped behavior symptoms. Structural differences and behavioral correlations were concentrated in the right cerebellar Crus II. These results emphasize the importance of the potential functional effect of structural differences in cerebellar subregions on ASD and suggest that the changes of thickness in the right cerebellar Crus II are related to the core profile of ASD.
