1. Ansel A, Rosenzweig JP, Zisman PD, Melamed M, Gesundheit B. {{Variation in Gene Expression in Autism Spectrum Disorders: An Extensive Review of Transcriptomic Studies}}. {Front Neurosci};2016;10:601.
Autism spectrum disorders (ASDs) are a group of complex neurodevelopmental conditions that present in early childhood and have a current estimated prevalence of about 1 in 68 US children, 1 in 42 boys. ASDs are heterogeneous, and arise from epigenetic, genetic and environmental origins, yet, the exact etiology of ASDs still remains unknown. Individuals with ASDs are characterized by having deficits in social interaction, impaired communication and a range of stereotyped and repetitive behaviors. Currently, a diagnosis of ASD is based solely on behavioral assessments and phenotype. Hundreds of diverse ASD susceptibility genes have been identified, yet none of the mutations found account for more than a small subset of autism cases. Therefore, a genetic diagnosis is not yet possible for the majority of the ASD population. The susceptibility genes that have been identified are involved in a wide and varied range of biological functions. Since the genetics of ASDs is so diverse, information on genome function as provided by transcriptomic data is essential to further our understanding. Gene expression studies have been extremely useful in comparing groups of individuals with ASD and control samples in order to measure which genes (or group of genes) are dysregulated in the ASD group. Transcriptomic studies are essential as a key link between measuring protein levels and analyzing genetic information. This review of recent autism gene expression studies highlights genes that are expressed in the brain, immune system, and processes such as cell metabolism and embryology. Various biological processes have been shown to be implicated with ASD individuals as well as differences in gene expression levels between different types of biological tissues. Some studies use gene expression to attempt to separate autism into different subtypes. An updated list of genes shown to be significantly dysregulated in individuals with autism from all recent ASD expression studies will help further research isolate any patterns useful for diagnosis or understanding the mechanisms involved. The functional relevance of transcriptomic studies as a method of classifying and diagnosing ASD cannot be underestimated despite the possible limitations of transcriptomic studies.
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2. Cusack J. {{Participation and the gradual path to a better life for autistic people}}. {Autism};2017 (Feb);21(2):131-132.
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3. Rayan A, Ahmad M. {{Psychological Distress in Jordanian Parents of Children with Autism Spectrum Disorder: The Role of Positive Reappraisal Coping}}. {Arch Psychiatr Nurs};2017 (Feb);31(1):38-42.
BACKGROUND: Parents of children with autism spectrum disorder (ASD) frequently report poor psychological well-being. Positive reappraisal coping (PRC) is a coping strategy which offers a protective effect from anxiety and depression. However, the association between PRC and the psychological distress in parents of children with ASD has yet to be established. AIM: This study examines the association between PRC and the psychological distress in parents of children with ASD. METHOD: In this descriptive correlational study, 104 parents of children with ASD completed measures of psychological distress and PRC. Hierarchical multiple regression analysis was used to examine the association between PRC and the psychological distress in parents after controlling the influence of parental age and gender. RESULTS: The PRC was associated with the psychological distress in parents above and beyond the variance accounted for by parental age and gender. After controlling for parental age and gender, PRC had significant negative correlation with the levels of anxiety, stress, and depression in parents (Anxiety: beta=-0.36, p<0.001; Stress: beta=-0.21, p=0.03; Depression: beta=- 0.37, p<0.001). CONCLUSION: Using positive reappraisal coping strategy may help to reduce psychological distress in parents of children with ASD. Lien vers le texte intégral (Open Access ou abonnement)
4. Richard AE, Scheffer IE, Wilson SJ. {{Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder}}. {Neurosci Biobehav Rev};2017 (Jan 16)
RICHARD, A.E., I.E. Scheffer and S.J. Wilson. Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder. NEUROSCI BIOBEHAV REV 21(1) XXX-XXX, 2016.- To inform on mechanisms underlying the comorbidity of epilepsy and autism spectrum disorder (ASD), we conducted meta-analyses to test whether impaired facial emotion recognition (FER) and theory of mind (ToM), key phenotypic traits of ASD, are more common in people with epilepsy (PWE) than controls. We contrasted these findings with those of relatives of individuals with ASD (ASD-relatives) compared to controls. Furthermore, we examined the relationship of demographic (age, IQ, sex) and epilepsy-related factors (epilepsy onset age, duration, seizure laterality and origin) to FER and ToM. Thirty-one eligible studies of PWE (including 1449 individuals: 77% with temporal lobe epilepsy), and 22 of ASD-relatives (N=1295) were identified by a systematic database search. Analyses revealed reduced FER and ToM in PWE compared to controls (p <0.001), but only reduced ToM in ASD-relatives (p <0.001). ToM was poorer in PWE than ASD-relatives. Only weak associations were found between FER and ToM and epilepsy-related factors. These findings suggest shared mechanisms between epilepsy and ASD, independent of intellectual disability. Lien vers le texte intégral (Open Access ou abonnement)
5. Vanwong N, Srisawasdi P, Ngamsamut N, Nuntamool N, Puangpetch A, Chamkrachangpada B, Hongkaew Y, Limsila P, Kittitharaphan W, Sukasem C. {{Hyperuricemia in Children and Adolescents with Autism Spectrum Disorder Treated with Risperidone: The Risk Factors for Metabolic Adverse Effects}}. {Front Pharmacol};2016;7:527.
Background: Atypical antipsychotics have been found to be associated with hyperuricemia. Risperidone, one of the atypical antipsychotics, might be related to the hyperuricemia among autism spectrum disorder (ASD) patients. The aims of this study were to determine the prevalence of hyperuricemia in ASD patients treated with risperidone and to determine associations between serum uric acid levels and risperidone dosage, treatment duration, and metabolic parameters. Methods: 127 children and adolescents with ASD treated with risperidone and 76 age-matched risperidone-naive patients with ASD were recruited. The clinical data and laboratory data were analyzed. Hyperuricemia was defined as serum uric acid >5.5 mg/dl. Results: Hyperuricemia was present in 44.70% of risperidone-naive patients with ASD and 57.50% of ASD patients treated with risperidone. The fasting uric acid levels were significantly higher in the risperidone group than in the risperidone-naive group (5.70 vs. 5.35 mg/dl, P = 0.01). The increased uric acid concentrations were significantly associated with adolescent patients treated with risperidone. The higher dose of risperidone and/or the longer treatment time were associated with the increased uric acid levels. Uric acid levels significantly rose with body mass index (BMI), waist circumference (WC), triglyceride (TG) levels, triglycerides to high-density lipoprotein cholesterol ratio (TG/HDL-C), insulin levels, homeostatic model assessment index (HOMA-IR), high-sensitivity CRP (hs-CRP) levels, and leptin levels. Conversely, the levels of HDL-C and adiponectin were negatively correlated with uric acid levels. In multiple regression analysis, there were age, BMI, TG/HDL-C ratio, and adiponectin levels remained significantly associated with uric acid levels. Conclusion: Hyperuricemia may play a role in metabolic adverse effect in children and adolescents with ASDs receiving the high dose and/or the long-term treatment with risperidone.
