X‐Linked Intellectual Disability Genetics

Abstract

Intellectual disability (ID) is a common disability affecting 2–3% of the general population. X‐linked intellectual disability (XLID) disorders, caused by the defects of genes on the X chromosome, affect 1.7 of 1000 males. Patients with XLID require long‐term family involvement, medical care and social services with enormous attendant burden and cost. XLID is a medically important and biologically significant group of disorders for which the prospects for further progress on the understanding of their molecular basis have improved with advances in technological approaches. As such, worldwide efforts over the past 25 years have identified 124 XLID genes involved in 124 XLID syndromes and 53 nonsyndromal XLID conditions. About 70% these genes fall into three categories of biological process or function: structural molecule, catalytic activity or transcription regulatory activity. In‐depth analysis of the genes will assist with understanding not only XLID but also cognitive function and brain function in general. Key Concepts XLID conditions can be partitioned into two broad categories: syndromal and nonsyndromal Molecular analysis allows for splitting XLID conditions thought to be similar Molecular analysis allows for determining distinct XLID entities are allelic XLID proteins fall into 3–4 major categories of function Better understanding of XLID gene function may lead to treatment therapies

Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery

“…Both genetic and environmental factors contribute to the development of ID (Milani, et al, 2015). Over 120 of the identified >800 ID genes are located on the X-chromosome (Chiurazzi and Pirozzi, 2016; Schwartz, 2015), and diagnosis of X-linked causes of ID remain critically important for accurate genetic counseling of families (Ropers and Hamel, 2005). Dramatic improvements in high-throughput DNA sequencing technologies and analyses software has led to identification of new ID genes and additional variants in the known ID genes (Dickinson, et al, 2016; Vissers, et al, 2016).…”

A framework for applying learning analytics in serious games for people with intellectual disabilities

“…Intellectual disability is defined by American Association on Intellectual and Developmental Disabilities as “a disability characterised by significant limitations in both intellectual functioning and in adaptive behaviour, which covers many everyday social and practical skills” (Definition of Intellectual Disability, n.d.). Intellectual disabilities affects about 2–3% of the world population, making it one of the most frequently occurring disabilities (Schwartz & Boccuto, ). Although students vary widely in their abilities and needs, appropriate and adaptive learning conditions can help them to reach a high level of achievement.…”