DDX3X Sendromu ve Eşlik Eden Otizm Spektrum Bozukluğu Olan Kız Çocuk: Bir Olgu Sunumu

Abstract

DDX3X sendromu, X kromozomuna bağlı DDX3X genindeki mutasyonlardan kaynaklanan, gelişimsel gecikme, entelektüel yetersizlik, konuşma-dil gecikmeleri veya bozuklukları, otizm spektrum bozukluğu (OSB) ve dikkat eksikliği ve hiperaktivite bozukluğu (DEHB) gibi nörogelişimsel bozuklukların sıklıkla eşlik ettiği bir genetik hastalıktır. DDX3X sendromu nadir görülen bir genetik hastalıktır ve literatürde bildirilen vakaların sayısı azdır. Hakkında yeterli bilgi sahibi olunamaması ve DDX3X sendromunun OSB ile benzer özellikler taşıyabilmesi sebebiyle, DDX3X sendromuna eşlik eden OSB tanısının ayırt edilmesi her zaman mümkün olamamaktadır. Kliniğimizde muayene edilen, DDX3X sendromlu hafif düzeyde entelektüel yetersizlik, dikkat eksikliği ve hiperaktivite bozukluğu, konuşma bozukluğu tanıları olan dokuz yaşında bir kız hastaya geç dönemde otizm tanısı konulmuştur. Bu hastalarda doğru ve etkili tedavi yaklaşımlarının uygulanabilmesi için erken dönemde tanı konulmasına katkı sağlamak amacıyla ve literatüre katkı sağlaması amacıyla bu olgu sunumu hazırlanmıştır.

Keywords

• DDX3X sendromu
• Nörogelişimsel bozukluk
• Otizm spektrum bozukluğu

DDX3X Syndrome and Associated Autism Spectrum Disorder In A Girl: A Case Report

Abstract

DDX3X syndrome is a genetic disorder caused by mutations in the DDX3X gene located on the X chromosome. It is frequently accompanied by developmental delay, intellectual disability, speech and language delays or impairments, autism spectrum disorder (ASD), and attention deficit hyperactivity disorder (ADHD), which are common neurodevelopmental disorders. DDX3X syndrome is a rare genetic condition, and the number of reported cases in the literature is limited. Distinguishing ASD comorbidity in people with DDX3X syndrome is often challenging due to inadequate knowledge regarding the condition and its shared characteristics with ASD. In our clinic, a nine-year-old girl diagnosed with DDX3X syndrome, mild intellectual disability, ADHD and speech disorder, was later diagnosed with autism at a delayed stage. This case report was prepared to contribute to the literature and to emphasize the importance of early diagnosis in order to apply the most accurate and effective treatment approaches for these patients.

Keywords

• Autism spectrum disorder
• DDX3X syndrome
• Neurodevelopmental disorder

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