Genetic investigation for adults with intellectual disability: opportunities and challenges

Current Opinion in Neurology
Kate BakerNick Bass

Abstract

This review discusses diagnostic genetic assessment for adults with idiopathic intellectual disability, considering the potential yields and limitations of currently available investigations. Genome-wide microarray analysis is now a routine diagnostic test. Estimated yields for clinically significant copy number variants in adults with idiopathic intellectual disability are at least 10%. The medical and neuropsychiatric phenotypes of recurrent genomic disorders are being established. Many single gene causes of intellectual disability have been identified, most notably for X-linked intellectual disability. Ascribing causality, determination of recurrence risk, and prognostication for rare or unique variants remain challenging. Clinical evaluation and investigations (both nongenetic and genetic) can yield an aetiological diagnosis for a growing proportion of individuals with intellectual disability. Not all adults with intellectual disability will ever have received such an assessment. Genetic diagnosis can provide an explanation for lifelong disabling cognitive disorder, guide prognosis, and highlight medical comorbidities. A key outcome is clarification of recurrence risk and facilitation of reproductive choices. However, there...Continue Reading

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Citations

Feb 14, 2015·International Journal of Molecular Sciences·José Guevara-CamposOmar Cauli
Jan 24, 2015·Molecular Genetics & Genomic Medicine·Marina Viñas-JornetMiriam Guitart
Jul 31, 2013·Clinical Genetics·M H Willemsen, T Kleefstra
Aug 24, 2017·Journal of Applied Research in Intellectual Disabilities : JARID·Kate WolfeNick Bass

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