Molecular syndromology, 4 1 2025 Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A). Janssen V, van Dongen LCM, Custers MCC, Willemsen MH, Kleefstra T, Egger JIM
Introduction
Neurodevelopmental disorders (NDDs) include a broad spectrum of disorders. NDDs caused by rare gene mutations are referred to as Rare Genetic Neurodevelopmental Syndromes (RGNS). Witteveen-Kolk syndrome (WITKOS) is such a RGNS, caused by heterozygous mutations in SIN3A and characterized by developmental problems, facial dysmorphisms, short stature, brain abnormalities, intellectual disability, and behavioral problems. Care for individuals with WITKOS mainly focuses on somatic characteristics. To address this issue, we present a case study of the first documented treatment of behavioral problems in WITKOS.
Case presentation
The patient is a 27-year-old single female with known developmental problems during childhood and a history of severe psychiatric problems. She received the genetically confirmed diagnosis of WITKOS at the age of 25 and based upon extensive intellectual and neuropsychological examination, a personalized psychological treatment could be performed. This treatment consisted of twelve individual sessions aimed to reduce anxiety, fatigue and thought disorder by treating factors contributing to cognitive overload. Evaluation during treatment and at 3-month follow-up showed a positive increase in functioning and acceptance as well as the acceptance of successive follow-up treatment. However, she was unable to maintain favorable changes in emotion-regulation strategies at follow-up, emphasizing the need for prolonged professional guidance and support.
Conclusion
Neurocognitive evaluation enabled the adaptation of treatment strategies to the patients developmental and neurocognitive functioning, provided guidance in treatment choice, supported the rewriting of her personal narrative and resulted in successive care.
