Entelektüel Yetersizliğe Genetik Yaklaşım
Özet
Entelektüel yetersizlik, 18 yaş öncesi başlayan ve entelektüel fonksiyonlar ile adaptif davranışlarda kısıtlılıkla karakterize multifaktöriyel bir nörogelişimsel bozukluktur. Tanı sürecinde detaylı fiziksel ve nörolojik muayenenin ardından kromozomal mikroarray ve yeni nesil dizileme gibi genetik testler, etiyolojinin anlaşılmasında ve hastaların büyük bir kısmına tanı konulmasında temel yöntemler haline gelmiştir. Gelişimsel geriliğin tanımlanması, hastanın klinik takibi, prognozu ve aileye verilecek genetik danışmanlık açısından hayati önem taşımaktadır. Uzun yıllar tedavisi imkansız görülen bu durumlar için günümüzde gen terapileri, enzim replasman tedavileri ve CRISPR gibi genom düzenleme çalışmaları umut verici ilerlemeler sunmaktadır.
Intellectual disability is a multifactorial neurodevelopmental disorder that begins before age 18 and is characterized by limitations in intellectual functions and adaptive behaviors. In the diagnostic process, following a detailed physical and neurological examination, genetic tests such as chromosomal microarray and next-generation sequencing have become fundamental methods for understanding the etiology and providing a diagnosis for a large proportion of patients. Identifying developmental delay is of vital importance for the clinical follow-up of the patient, prognosis, and the genetic counseling provided to the family. While these conditions were long considered untreatable, promising advancements are currently being made through gene therapies, enzyme replacement treatments, and genome editing studies such as CRISPR.
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