Disentangling the heterogeneity of autism spectrum disorder through genetic findings

Autism spectrum disorder (ASD) represents a heterogeneous group of disorders, which presents a substantial challenge to diagnosis and treatment. Over the past decade, considerable progress has been made in the identification of genetic risk factors for ASD that define specific mechanisms and pathways underlying the associated behavioural deficits. In this Review, we discuss how some of the latest advances in the genetics of ASD have facilitated parsing of the phenotypic heterogeneity of this disorder. We argue that only through such advances will we begin to define endophenotypes that can benefit from targeted, hypothesis-driven treatments. We review the latest technologies used to identify and characterize the genetics underlying ASD and then consider three themes—single-gene disorders, the gender bias in ASD, and the genetics of neurological comorbidities—that highlight ways in which we can use genetics to define the many phenotypes within the autism spectrum. We also present current clinical guidelines for genetic testing in ASD and their implications for prognosis and treatment

Autism

Autism spectrum disorder (ASD) is a complex, lifelong neurodevelopmental condition that is marked by deficits in social communication and interaction, and repetitive or restrictive patterns of behavior, interests, or activities. These symptoms can create challenges for individuals on the autism spectrum and their parents during the transition to adulthood, which may interfere with their ability to access and receive adequate and appropriate health care. Awareness of how the challenges associated with ASD may translate to healthcare barriers can help primary care providers address the complex needs of individuals who are on the autism spectrum and mitigate the risks of additional health disparities. This chapter starts with a case presentation to illustrate key considerations for serving a patient population with ASD and the differences between a medical versus social model of disability, then provides an overview of ASD and its common comorbidities and risk factors, discussion about special issues that arise during the transition to adulthood, common interventions for individuals on the autism spectrum, as well as practical tips to facilitate health care

Epilepsy and Vitamin D

Summary Several disorders, both systemic and those of the nervous system, have been linked with vitamin D deficiency. Neurological disorders with a vitamin D link include but are not limited to multiple sclerosis, Alzheimer and Parkinson disease as well as cerebrovascular disorders. Epilepsy which is the second leading neurological disorder received much less attention. We review evidence supporting a link between vitamin D and epilepsy including those coming from ecological as well as interventional and animal studies. We also assess the literature on the interaction between antiepileptic drugs and vitamin D. Converging evidence indicates a role for vitamin D deficiency in the pathophysiology of epilepsy

Autism Spectrum Disorder Symptoms Among Children Enrolled in the Study to Explore Early Development (SEED)

This study examined the phenotypic profiles of children aged 30–68 months in the Study to Explore Early Development (SEED). Children classified as autism spectrum disorder (ASD), developmental delay (DD) with ASD symptoms, DD without ASD symptoms, and population comparison (POP) differed significantly from each other on cognitive, adaptive, behavioral, and social functioning and the presence of parent-reported conditions. Children with ASD and DD with ASD symptoms had mild to severe ASD risk on several measures compared to children with other DD and POP who had little ASD risk across measures. We conclude that children in SEED have varying degrees of ASD impairment and associated deficits. SEED thus provides a valuable sample to explore ASD phenotypes and inform risk factor analyses