Huntington Hastalığı’nın Nöropsikiyatrik Yönü

Huntington Hastalığı; kore ve distoni, koordinasyon bozukluğu, bilişsel performansta bozulmalar ve davranışsal sorunlar gibi farklıfenotipler ile ortaya çıkabilen, genetik olarak otozomal dominant geçiş özelliğine sahip, ilerleyici tipte bir nörodejeneratif hastalıktır. Bilişselve motor belirtilerin yanı sıra nöropsikiyatrik belirtiler de hastalığın çekirdek belirtileri arasında yer almaktadır. Huntington Hastalığı’ndanöropsikiyatrik belirtiler oldukça sık görülmekte ve hastalığın farklı dönemlerinde psikiyatrik bozuklukların görülme prevelansı %33-76 olaraktahmin edilmektedir. Nöropsikiyatrik belirtilerin görülme sıklığı hastalığın evrelerine göre farklılık gösterse de başlangıcının motor belirtilerbaşlamadan yıllar önce olabileceği de bilinmektedir. Huntington Hastalığı’nda sık görülen nöropsikiyatrik belirti ve bozukluklar depresyon,anksiyete, intihar, irritabilite, apati, obsesif-kompulsif belirtiler, perseverasyonlar, psikoz, uyku bozuklukları ve cinsel işlev bozuklukları olaraksayılabilir. Nöropsikiyatrik belirtiler aileler üzerindeki yükün en önemli nedenlerinden birini oluşturmakta, günlük işlevsellikteki azalma ilebakım kurumlarına yerleştirilme ve hastaneye yatışların en önemli öngörücüsü olarak değerlendirilmektedir. Hem sıklığı hem de sonuçlarıgöz önüne alındığında Huntington Hastalığı’ndaki nöropsikiyatrik belirtilerin tanınması ve bu belirtilere müdahale edilmesi hastalar, hastayakınları ve bakımverenleri için oldukça önemlidir. Hastalıkta görülen nöropsikiyatrik belirtilerin tedavisi ile ilgili yüksek kanıt düzeyinesahip araştırmalar olmasa da daha düşük kanıt düzeyine sahip çalışmalar, vaka bildirimleri ve uzman görüşlerine dayalı tedavi kılavuzlarıson yıllarda yazında kendine yer bulmuştur. Bu alanda dikkat edilmesi gereken başka bir konu da risk altındaki bireylerin değerlendirilmesi,genetik danışmanlık ve bu değerlendirmeler sırasında güvenli bir protokolün oluşturulmasıdır. Bu yazıda Huntington Hastalığı’nda sık görülennöropsikiyatrik bozukluklar, bu bozuklukların tedavisi ve risk altındaki bireyleri değerlendirmede dikkat edilmesi gereken durumlar güncelyazın ışığında derlenmiştir.

Anahtar Kelimeler:

huntington hastalığı, nöropsikiyatrik bozukluk, tedavi, genetik risk

Neuropsychiatric Aspects of Huntington’s Disease

Huntington’s Disease is a progressive neurodegenerative disorder inherited in an autosomal dominant fashion with distinct phenotypesas chorea and dystonia, incoordination, cognitive disorders, and behavioural problems. In addition to cognitive and motor symptoms,neuropsychiatric symptoms are among the core symptoms of the disease. Neuropsychiatric symptoms are quite common in Huntington’sDisease and the prevalence of neuropsychiatric disorders in different stages of the disease is estimated to be 33-76%. Although the prevelanceof neuropsychiatric symptoms varies among the stages of the disease, it is also known that the onset of these symptoms may be years beforethe onset of motor symptoms. Common neuropsychiatric symptoms and disorders in Huntington’s Disease include depression, anxiety, suicide,irritability, apathy, obsessive-compulsive symptoms, perseverations, psychosis, sleep disorders, and sexual dysfunctions. Neuropsychiatricsymptoms constitute one of the most important factors for the burden on families, and are considered to be the most important predictors ofdecrease in daily functionality and institutionalizations in care centers and hospitalizations. Considering both its frequency and outcomes, it isvery important for patients, their relatives and caregivers to recognize and intervene in neuropsychiatric symptoms of Huntington’s Disease.Although there are no studies with a high level of evidence on the treatment of neuropsychiatric symptoms of the disease, studies with lowerlevels of evidence, case reports and treatment guidelines based on expert opinions are found in the literature in recent years. Another issue tobe considered in this area is the evaluation of individuals at genetic risk, genetic counseling and setting a safe protocol during these evaluations.In this article, neuropsychiatric disorders common in Huntington’s Disease, the management of these disorders and the conditions to beconsidered in the evaluation of individuals at genetic risk are reviewed in the light of current literature.

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