Comprehensive Rehabilitation Approach in Zhu–Tokita–Takenouchi–Kim Syndrome: A Single Case Report

Abstract

Zhu–Tokita–Takenouchi–Kim (ZTTK) syndrome is a rare genetic disorder caused by mutations in the SON gene. This study is unique as it highlights the role of a multidisciplinary approach that has so far not been documented. A 6.5-year-old girl was diagnosed with ZTTK syndrome. Clinical features included dysmorphic facial characteristics, developmental delay, seizures, and congenital cardiac anomalies. A case study was conducted in a clinical setting in Delhi, India, where a multidisciplinary team provided intervention. Progress was monitored using standardized assessments such as Behavioral Assessment Scales for Indian Children with Mental Retardation, Vineland Social Maturity Scale, Assessment of Language Development – A Manipal Manual, and Brief Autism Mealtime Behavior Inventory at three intervals. She demonstrated consistent improvements in anthropometric measures, skill domains, and reduction in problem behaviors. These results suggest that a multidisciplinary rehabilitation is beneficial for individuals with ZTTK syndrome, supporting gains in independence and behavioral outcomes.