CONTEMPORARY APPROACH TO DIAGNOSIS OF GENETIC CAUSES OF INTELLECTUAL DISABILITY
Journal Title: Journal of Special Education and Rehabilitation - Year 2016, Vol 17, Issue 3
Abstract
Intellectual disability is a lifelong debilitating developmental disorder with important genetic contribution, which remains challenging to investigate due to high clinical and genetic variability. Finding the etiologic diagnosis of ID, however comes with great benefits for patients and their families, therefore establishing a genetic diagnostic pathway with right combination and succession of diagnostic tools is crucial for both prevention and appropriate treatment and/or rehabilitation of patients with ID. New diagnostic tools in genetics such as array comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) have much higher detection rate for genetic aberrations responsible for ID and have enormous potential to shorten the path to diagnosis, as early diagnosis is a cornerstone for medical and non-medical management of persons suffering from ID.
Authors and Affiliations
Ana PETERLIN | Clinical Institute of Medical Genetics University Medical Center Ljubljana, Slovenia, Borut PETERLIN| Clinical Institute of Medical Genetics University Medical Center Ljubljana, Slovenia
Keywords
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- EP ID EP7994
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