Correction to: Wundt, Avenarius, and Scientific Psychology
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Nature Reviews Genetics | AOP, published online 27 October 2015; doi:10.1038/nrg3999
A P P L I C AT I O N S O F N E X T- G E N E R AT I O N S E Q U E N C I N G
Genetic studies in intellectual disability and related disorders Lisenka E. L. M. Vissers1, Christian Gilissen1 and Joris A. Veltman1,2
Abstract | Genetic factors play a major part in intellectual disability (ID), but genetic studies have been complicated for a long time by the extreme clinical and genetic heterogeneity. Recently, progress has been made using different next-generation sequencing approaches in combination with new functional readout systems. This approach has provided novel insights into the biological pathways underlying ID, improved the diagnostic process and offered new targets for therapy. In this Review, we highlight the insights obtained from recent studies on the role of genetics in ID and its impact on diagnosis, prognosis and therapy. We also discuss the future directions of genetics research for ID and related neurodevelopmental disorders. Epilepsy Group of neurological diseases that are characterized by episodes of shaking, which can range in severity from brief, nearly undetectable to long and vigorous.
Autism spectrum disorder (ASD). Collective term to describe a wide range of conditions that are characterized by social deficits and communication difficulties, stereotyped or repetitive behaviour and interests, sensory issues and, in some cases, cognitive delays. Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands. 2 Department of Clinical Genetics, Maastricht University Medical Centre. Universiteitssingel 50, 6229 ER Maastricht, The Netherlands. Correspondence to J.A.V. e-mail: joris.veltman@ radboudumc.nl doi:10.1038/nrg3999 Published online 27 October 2015 1
Intellectual disability (ID), the world-wide prevalence of which has been estimated at 1%1, is characterized by substantial limitations in both intellectual functioning and adaptive behaviour, starting before the age of 18 years. Most individuals with ID are identified early in childhood because of developmental delays, and ID is a prominent feature of most developmental disorders. However, a formal diagnosis of ID is made only when IQ testing identifies an IQ score of less than 70. ID can occur in isolation or in combination with congenital malformations or other neurological features such as epilepsy, sensory impairment and autism spectrum disorders (ASD), and its severity (mild, moderate, severe and profound) is highly variable. ID can be caused by exogenous factors such as maternal alcohol abuse during pregnancy, infections, birth complications and extreme malnutrition, but genetics is known to have an important role in its aetiology. The brain is an incredibly complex organ consisting of a myriad of interconnected cell types. During development and day‑to‑day functioning throughout life, numerous proteins need to be functionally active in the right amount at the
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