This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a…

Autism is heterogeneous at many levels, including clinical symptoms and etiology. A key strategy in studying heterogeneous conditions is having large enough sample sizes to stratify into smaller groups that are more homogeneous. SPARK and Simons Searchlight are large and growing research cohorts of individuals with autism in the United States and…

The past fifteen years has seen a dramatic improvement in our understanding of hearing and hearing loss. Scientists have worked to identify dozens of genes involved in hearing loss and elucidate the complex molecular machinery responsible for hearing. At the same time, there have been rapid advances in clinical diagnostic tools including imaging…

Individuals living with intellectual disability can have multiple co-occurring medical conditions including associated genetic diagnoses. The number of genetic etiologies associated with ID is growing, with some quite new and rare, and others more common and associated with what is often considered a syndrome. In the context of genetic etiologies…

We aimed to identify unique constellations of sensory phenotypes for genetic etiologies associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID). Caregivers reported on sensory behaviors via the Sensory Profile for 290 participants (younger than 25 years of age) with ASD and/or ID diagnoses, of which…

There is broad consensus about the importance of post-diagnostic genetic testing for children with ASD. However, the extent of compliance with these tests and the factors affecting compliance have rarely been examined. We surveyed a sample of 114 families with a child with ASD in Israel, where such genetic testing is funded by the government. We…

Purpose: This study investigated progressive hearing loss in a cohort of children who were identified with permanent mild bilateral hearing loss. Method: This population-based study included 207 children with permanent mild bilateral hearing loss, diagnosed and followed from 2003 to 2016 in 1 region of Canada. Clinical characteristics and initial…

Background: In intellectual disability, the cognitive delay is observed during developmental age, whereas in dementia, cognitive decline occurs during post-developmental period. So far, the risk of dementia in people with intellectual disability, excluding those with Down syndrome, is poorly known. Method: We screened dementia signs in a study…

There is increasing literature showing that the presentation of Autism Spectrum Disorder (ASD) could be different according to the sex of the patient. Through the analysis of the Autism Diagnostic Interview Revised interview results of a study group consisting of 56 preschool children diagnosed with ASD potential differences in the presentation of…

Autism spectrum disorder has often been assumed to be a protective factor against substance use, yet the extent of substance use in this population has been difficult to determine as limited research has been done on these interacting variables. This systematic literature review examined 26 studies published between 2009 and 2019 to uncover the…

Emerging research suggests that adiponectin, a cytokine produced by adipose tissue, may be implicated in ASD. In this prospective birth cohort study (n = 847), we assessed the association between cord, early childhood plasma adiponectin and the risk of developing ASD. ASD was defined based on ICD codes of physician diagnosis. Cord adiponectin…

Background: Caring for a child with intellectual disability (ID) has been associated with increased social and psychological burdens. Diagnostic and prognostic uncertainty may enhance emotional stress in families. Method: The present authors assessed the motivations, expectations, mental health, physical health and the quality of life of 194…

Parents' understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents expected genetic testing to have positive impacts for the child (93%) and the family (98%), mainly to…

Little is known about how triple negative breast cancer (TNBC) is discussed on the visual social media platform, Instagram. A greater understanding of the experiences of TNBC survivors that are documented on this platform may inform us of how this group of survivors cope with this rare, but aggressive form of breast cancer. This study analyzed a…

Efavirenz (EFV) is a well-known, effective anti-retroviral drug long used in first-line treatment for children and adults with HIV and HIV/AIDS. Due to its narrow window of effective concentrations, between 1 and 4 µg/mL, and neurological side effects at supratherapeutic levels, several investigations into the pharmacokinetics of the drug and its…