A Female Adolescent with CHD2-related Neurodevelopmental Disorder: An Approach to Psychiatric Comorbidities in the Presence of Epileptic Encephalopathy CHD2-ilişkili Nörogelişimsel Bozukluk Tanılı Bir Kız Ergen Olgu: Epileptik Ensefalopati Varlığında Psikiyatrik Eş Tanılara Yaklaşım
Turkish Journal of Child and Adolescent Mental Health, cilt.31, sa.3, ss.230-233, 2024 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 31 Sayı: 3
- Basım Tarihi: 2024
- Doi Numarası: 10.4274/tjcamh.galenos.2024.48278
- Dergi Adı: Turkish Journal of Child and Adolescent Mental Health
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.230-233
- Anahtar Kelimeler: case report, CHD2, epileptic encephalopathy, intellectual disability, neurodevelopmental disorder
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Pathogenic variants of the gene encoding the chromodomain helicase DNA binding protein 2 (CHD2) protein are associated with neurodevelopmental disorders. These disorders are rare and characterized by early-onset epileptic encephalopathy with refractory seizures leading to regression or slowing of cognitive function. Psychiatric disorders, such as intellectual disability (ID), autism spectrum disorder, attention deficit and hyperactivity disorder (ADHD), often accompany the clinical picture. In this case report, we discuss a female adolescent diagnosed with CHD2-related early-onset epileptic encephalopathy, ID, ADHD, and conduct disorder.