1. Barua M, Kaushik JS, Gulati S. {{Legal Provisions, Educational Services and Health Care Across the Lifespan for Autism Spectrum Disorders in India}}. {Indian J Pediatr};2016 (Dec 05)
India is estimated to have over 10 million persons with autism. Rising awareness of autism in India over last decade with ready access to information has led to an increase in prevalence and earlier diagnosis, the creation of services and some policy initiatives. However, there remains a gaping chasm between policy and implementation. The reach and quality of services continues sketchy and uneven, especially in the area of education. The present review discusses existing legal provisions for children and adults with autism in India. It also discusses Governmental efforts and lacunae in existing health care facilities and education services in India. While there are examples of good practice and stories of hope, strong policy initiatives have to support grassroots action to improve the condition of persons with autism in India.
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2. Elwin M, Schroder A, Ek L, Wallsten T, Kjellin L. {{Sensory Clusters of Adults With and Without Autism Spectrum Conditions}}. {J Autism Dev Disord};2016 (Dec 05)
We identified clusters of atypical sensory functioning adults with ASC by hierarchical cluster analysis. A new scale for commonly self-reported sensory reactivity was used as a measure. In a low frequency group (n = 37), all subscale scores were relatively low, in particular atypical sensory/motor reactivity. In the intermediate group (n = 17) hyperreactivity, sensory interests and sensory/motor issues were significantly elevated in relation to the first group, but not hyporeactivity. In a high frequency subgroup (n = 17) all subscale scores were significantly elevated and co-occurrence of hyper- and hyporeactivity was evident. In a population sample, a cluster of low scorers (n = 136) and high scorers relative to the other cluster (n = 26) was found. Identification of atypical sensory reactivity is important for targeting support.
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3. Kwan V, Unda BK, Singh KK. {{Wnt signaling networks in autism spectrum disorder and intellectual disability}}. {J Neurodev Disord};2016;8:45.
BACKGROUND: Genetic factors play a major role in the risk for neurodevelopmental disorders such as autism spectrum disorders (ASDs) and intellectual disability (ID). The underlying genetic factors have become better understood in recent years due to advancements in next generation sequencing. These studies have uncovered a vast number of genes that are impacted by different types of mutations (e.g., de novo, missense, truncation, copy number variations). ABSTRACT: Given the large volume of genetic data, analyzing each gene on its own is not a feasible approach and will take years to complete, let alone attempt to use the information to develop novel therapeutics. To make sense of independent genomic data, one approach is to determine whether multiple risk genes function in common signaling pathways that identify signaling « hubs » where risk genes converge. This approach has led to multiple pathways being implicated, such as synaptic signaling, chromatin remodeling, alternative splicing, and protein translation, among many others. In this review, we analyze recent and historical evidence indicating that multiple risk genes, including genes denoted as high-confidence and likely causal, are part of the Wingless (Wnt signaling) pathway. In the brain, Wnt signaling is an evolutionarily conserved pathway that plays an instrumental role in developing neural circuits and adult brain function. CONCLUSIONS: We will also review evidence that pharmacological therapies and genetic mouse models further identify abnormal Wnt signaling, particularly at the synapse, as being disrupted in ASDs and contributing to disease pathology.
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4. Lecavalier L, Smith T, Johnson C, Bearss K, Swiezy N, Aman MG, Sukhodolsky DG, Deng Y, Dziura J, Scahill L. {{Moderators of Parent Training for Disruptive Behaviors in Young Children with Autism Spectrum Disorder}}. {J Abnorm Child Psychol};2016 (Dec 05)
We conducted a 6 month, randomized trial of parent training (PT) versus a parent education program (PEP) in 180 young children (158 boys, 22 girls), ages 3-7 years, with autism spectrum disorder (ASD). PT was superior to PEP in decreasing disruptive and noncompliant behaviors. In the current study, we assess moderators of treatment response in this trial. Thirteen clinical and demographic variables were evaluated as potential moderators of three outcome variables: the Aberrant Behavior Checklist-Irritability subscale (ABC-I), Home Situations Questionnaire (HSQ), and Clinical Global Impressions-Improvement Scale (CGI-I). We used an intent-to-treat model and random effects regression. Neither IQ nor ASD severity moderated outcome on the selected outcome measures. Severity of Attention Deficit Hyperactivity Disorder (ADHD) and anxiety moderated outcomes on the ABC-I and HSQ. For instance, there was a 6.6 point difference on the ABC-I between high and low ADHD groups (p = .05) and a 5.3 point difference between high and low Anxiety groups (p = .04). Oppositional defiant disorder symptoms and household income moderated outcomes on the HSQ. None of the baseline variables moderated outcome on the CGI-I. That IQ and ASD symptom severity did not moderate outcome suggests that PT is likely to benefit a wide range of children with ASD and disruptive behavior.
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5. Lunsky Y, Durbin A, Brown HK, Bansal S, Heifetz M, Antoniou T. {{Health profiles and associated service use among adults with HIV and intellectual and developmental disabilities}}. {Aids};2016 (Dec 05)
OBJECTIVE (S): Due to the commonly held notion that individuals with intellectual and developmental disabilities (IDD) have low risk of HIV acquisition, we compared the prevalence of HIV infection among people with and without IDD. We also examined health status and health service use among the HIV-infected group. DESIGN: Population-based cohort study using linked administrative health and social services databases. METHODS: We compared HIV prevalence between Ontario adults with IDD (n=64,008) and a 20% random sample of Ontario adults without IDD. Among the HIV-infected group, we compared adults with and without IDD in terms of comorbid chronic physical conditions and mental health (MH) disorders, as well as use of overall health services, MH services, and HIV-specific services. RESULTS: HIV prevalence per 100,000 population did not differ for adults with IDD [163.38 (95% CI: 132.27,199.6)] and without IDD [172.45 (95 CI: 167.48,177.53)]. Among the HIV-infected group, those with IDD had more comorbid chronic physical conditions and MH disorders. They also had greater use of overall health services and MH services. Likelihood of use of HIV-specific services also differed for those with and without IDD. DISCUSSION: A similar prevalence of HIV among adults with and without IDD accentuates a need for strategies for individuals with IDD to be included in HIV prevention efforts. High prevalence of chronic physical and MH comorbidity and health service use among the HIV infected group with IDD highlight a need for comprehensive and coordinated treatment plans to optimize outcomes for this complex patient group.
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6. Ou JJ, Li YM. {{Autism spectrum disorder and prenatal exposure to selective serotonin reuptake inhibitors: Need for further analysis}}. {Reprod Toxicol};2016 (Nov 30)
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7. Parikshak NN, Swarup V, Belgard TG, Irimia M, Ramaswami G, Gandal MJ, Hartl C, Leppa V, Ubieta LT, Huang J, Lowe JK, Blencowe BJ, Horvath S, Geschwind DH. {{Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism}}. {Nature};2016 (Dec 15);540(7633):423-427.
Autism spectrum disorder (ASD) involves substantial genetic contributions. These contributions are profoundly heterogeneous but may converge on common pathways that are not yet well understood. Here, through post-mortem genome-wide transcriptome analysis of the largest cohort of samples analysed so far, to our knowledge, we interrogate the noncoding transcriptome, alternative splicing, and upstream molecular regulators to broaden our understanding of molecular convergence in ASD. Our analysis reveals ASD-associated dysregulation of primate-specific long noncoding RNAs (lncRNAs), downregulation of the alternative splicing of activity-dependent neuron-specific exons, and attenuation of normal differences in gene expression between the frontal and temporal lobes. Our data suggest that SOX5, a transcription factor involved in neuron fate specification, contributes to this reduction in regional differences. We further demonstrate that a genetically defined subtype of ASD, chromosome 15q11.2-13.1 duplication syndrome (dup15q), shares the core transcriptomic signature observed in idiopathic ASD. Co-expression network analysis reveals that individuals with ASD show age-related changes in the trajectory of microglial and synaptic function over the first two decades, and suggests that genetic risk for ASD may influence changes in regional cortical gene expression. Our findings illustrate how diverse genetic perturbations can lead to phenotypic convergence at multiple biological levels in a complex neuropsychiatric disorder.
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8. Thomaidis L, Choleva A, Kyprianou M. {{Age-related issues of instruments screening for autism in young children}}. {Neuropsychiatr Dis Treat};2016;12:3093-3095.
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9. Thomeer ML, Lopata C, Donnelly JP, Booth A, Shanahan A, Federiconi V, McDonald CA, Rodgers JD. {{Community Effectiveness RCT of a Comprehensive Psychosocial Treatment for High-Functioning Children With ASD}}. {J Clin Child Adolesc Psychol};2016 (Dec 05):1-12.
This community effectiveness randomized clinical trial examined the feasibility and effectiveness of a comprehensive psychosocial treatment, summerMAX, when implemented by a community agency. Fifty-seven high-functioning children (48 male, 9 female), ages 7-12 years with autism spectrum disorder participated in this study. The 5-week summerMAX treatment included instruction and therapeutic activities targeting social/social-communication skills, interpretation of nonliteral language skills, face-emotion recognition skills, and interest expansion. A behavioral program was also used to increase skills acquisition and decrease autism spectrum disorder symptoms and problem behaviors. Feasibility was supported via high levels of fidelity and parent, child, and staff clinician satisfaction. Significant treatment effects favoring the treatment group over waitlist controls were found on all 5 of the primary outcome measures (i.e., child test of nonliteral language skills and parent ratings of the children’s autism spectrum disorder symptoms, targeted social/social-communication skills, broader social performance, and withdrawal). Staff clinician ratings substantiated the improvements reported by parents. Results of this randomized clinical trial are consistent with those of prior studies of summerMAX and suggest that the program was feasible and effective when implemented by a community agency under real-world conditions.