Pubmed du 05/07/21
1. Kloth K, Lozic B, Tagoe J, Hoffer MJV, Van der Ven A, Thiele H, Altmüller J, Kubisch C, Au PYB, Denecke J, Bijlsma EK, Lessel D. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants. Neurogenetics. 2021; 22(4): 263-9.
ANK3 encodes multiple isoforms of ankyrin-G, resulting in variegated tissue expression and function, especially regarding its role in neuronal development. Based on the zygosity, location, and type, ANK3 variants result in different neurodevelopmental phenotypes. Autism spectrum disorder has been associated with heterozygous missense variants in ANK3, whereas a more severe neurodevelopmental phenotype is caused by isoform-dependent, autosomal-dominant, or autosomal-recessive loss-of-function variants. Here, we present four individuals affected by a variable neurodevelopmental phenotype harboring a heterozygous frameshift or nonsense variant affecting all ANK3 transcripts. Thus, we provide further evidence of an isoform-based phenotypic continuum underlying ANK3-associated pathologies and expand its phenotypic spectrum.
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2. Livingston LA. Substance use, coping, and compensation in autism. The lancet Psychiatry. 2021; 8(8): 641-2.
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3. Moorthy L, Dixit UB, Kole RC, Gajre MP. Dietary Sugar Exposure and Oral Health Status in Children with Autism Spectrum Disorder: A Case-control Study. Journal of autism and developmental disorders. 2021.
This case-control study compared dietary sugar exposure and oral health status between children with and without Autism Spectrum Disorder (ASD), aged 5-12 years (n = 136, each). Data regarding socio-demographics, child’s oral hygiene practices and behavior, diet-related behavior, oral habits and dental trauma were obtained. Child’s diet on the previous day was recorded using 24-h recall method and sugar exposure was calculated using Dental Diet Diary (D3) mobile application. Oral Hygiene Index-Simplified (OHI-S), deft and DMFT were recorded. Results showed no significant differences in sugar exposure, deft and DMFT between the groups. Although oral hygiene practices were significantly better in children with ASD, their OHI-S was significantly worse. Significantly more children with ASD reported mouth-breathing, bruxism and self-injurious habits.
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4. Weir E, Allison C, Baron-Cohen S. Understanding the substance use of autistic adolescents and adults: a mixed-methods approach. The lancet Psychiatry. 2021; 8(8): 673-85.
BACKGROUND: Autistic individuals might be more likely to misuse substances than non-autistic individuals. Better understanding of these patterns can help clinicians identify strategies to reduce substance use, protecting physical and mental health. The aim of this study was to compare the experiences of substance use between autistic and non-autistic adolescents and adults. METHODS: This study is a mixed-methods study, including both quantitative (closed-ended questions) and qualitative (one open-ended question) online assessments. Data were collected as part of a larger study, the Autism and Physical Health Survey, in which we administered an anonymised, online questionnaire to autistic and non-autistic individuals aged 16-90 years. In the present study, we investigated data on substance use or misuse, using two overlapping but separate samples from the survey (one sample with complete quantitative responses and one sample with complete qualitative responses). Binary measures of substance use were investigated using unadjusted and adjusted binomial logistic regression models. Content analysis was used to compare experiences of autistic and non-autistic adolescents and adults. We used Fisher’s exact tests to assess differences in frequency of reporting particular qualitative themes and subthemes. FINDINGS: Survey recruitment was done between Feb 7, 2018, and Aug 26, 2019. At the end of the recruitment, 3657 individuals had accessed the survey. After excluding duplicates as well as participants with missing or incomplete responses, we had data from 2386 participants (1183 autistic and 1203 non-autistic participants; 1571 female and 815 male participants) for the quantitative analyses and data from 919 participants (429 autistic and 490 non-autistic participants; 569 female and 350 male participants) in the qualitative analyses. The samples for the quantitative and qualitative analyses were predominantly composed of female individuals, White individuals, UK residents, and those without intellectual disability. Autistic individuals were less likely than non-autistic individuals to report consuming alcohol regularly (16•0% of autistic individuals vs 22•2% of non-autistic individuals; adjusted model: odds ratio [OR] 0•69, 95% CI 0•55-0•86; p=0•0022) or binge-drinking (3•8% vs 8•2%; adjusted model: OR 0•38, 0•26-0•56; p<0•0001). Autistic male participants were less likely than non-autistic male participants to report ever having smoked (50•8% of autistic male participants vs 64•6% of non-autistic male participants; adjusted OR 0•50; 0•32-0•76; p=0•0022) or ever using drugs (35•4% vs 52•7%; adjusted OR 0•53; 0•35-0•80; p=0•0022). Regarding our qualitative analyses, among participants who reported a specific motivation for drug use, compared with non-autistic individuals, autistic individuals were nearly nine times more likely to report using recreational substances to manage behaviour (OR 8•89, 2•05-81•12; p=0•0017) and more likely to report using recreational substances to manage mental health symptoms (OR 3•08, 1•18-9•08; p=0•032). Autistic individuals were also more likely to report vulnerability associated with substance use (OR 4•16, 1•90-10•05; p=0•00027), including childhood use of drugs and being forced or tricked into using drugs. INTERPRETATION: Autistic individuals might be less likely than non-autistic individuals to report engaging in substance misuse. They also report using drugs to self-medicate. Clinicians should be aware of vulnerability linked to substance use among autistic patients and should work cooperatively with patients to effectively manage autistic and comorbid symptoms. FUNDING: Autism Research Trust, Rosetrees Trust, Cambridge and Peterborough NHS Foundation Trust.
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5. Wen J, Yang T, Zhu J, Guo M, Lai X, Tang T, Chen L, Chen J, Xue M, Li T. Vitamin a deficiency and sleep disturbances related to autism symptoms in children with autism spectrum disorder: a cross-sectional study. BMC pediatrics. 2021; 21(1): 299.
BACKGROUND: Vitamin A deficiency (VAD) and sleep disturbances have been reported in children with autism spectrum disorder (ASD). The influence of vitamin A (VA) levels on sleep regulation and sleep disturbances in ASD has garnered concern. The present study aimed to characterize the association of VA levels with sleep disturbances in children with ASD. METHODS: This cross-sectional study compared children with ASD (n = 856) to typically developing children (TDC; n = 316). We used the Children’s Sleep Habits Questionnaire to assess sleep disturbances, Childhood Autism Rating Scale to evaluate the severity of autism symptoms, and Autism Behavior Checklist and Social Responsiveness Scale to assess autism behaviors. Serum VA levels were estimated using high-performance liquid chromatography. Multivariable linear regression and two-way analysis of variance were performed to investigate if VAD was related to sleep disturbances in children with ASD. RESULTS: Children with ASD had lower serum VA levels and a higher prevalence of sleep disturbances than TDC did. The incidence of VAD in ASD children with sleep disturbances was higher, and the symptoms more severe than those without sleep disturbances and TDC. Interestingly, the interaction between VAD and sleep disturbances was associated with the severity of autism symptoms. CONCLUSION: VAD and sleep disturbances are associated with the core symptoms of ASD in children. Regular monitoring of sleep and VA levels may be beneficial for children with ASD. TRIAL REGISTRATION: Chinese Clinical Trial Registry, registration number: ChiCTR-ROC-14005442 , registration date: December 9th 2014.
