Geniş Otizm Fenotipi

Geniş otizm fenotipi otistik bireylerin yakın akrabalarında bilişsel, sosyal, iletişimsel, davranışsal ve kişilik alanlarında gözlenebilen bozulmalarla karakterizedir. Otizm üzerine yapılan ilk çalışmalardan itibaren elde edilen verilerde; otistik bireylerin kardeşlerinde ve ebeveynlerinde daha hafif derecede otistik belirtilerin gözlendiği ve bunun otizm için endofenotip olabileceği düşünülmektedir. Bu derlemede geniş otizm fenotipinin tanısal değerlendirilmesi, belirtileri, bulguları araştırılmış ve yazında yapılan çalışmalar üzerinden elde edilen veriler gözden geçirilmiştir.
Anahtar Kelimeler:

geniş otizm fenotipi, otizm

Broad Autism Phenotype

Broad autism phenotype is characterized by impairments in cognitive, social, communicative, behavioral and personality domains of close relatives to autistic individuals. Initial data derived from studies conducted on autism reflect mild autistic symptoms observed in siblings and parents of autistic individuals and this might be considered as an endophenotype for autism. With this review, we have aimed to summarize and interpret the entity of broad autism phenotype, within the context of its diagnostic assessment, its symptoms and relevant studies conducted so far.

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