Physiotherapeutic intervention for a child with Koolen-de Vries Syndrome

Intervenção fisioterapêutica para uma criança com Síndrome Koolen-de Vries

Abstract

Introduction  Koolen-de Vries Syndrome (KdVS) is a rare syndrome characterized by motor development delay, hypotonia, intellectual disability, language delay, and distinctive facial features.

Objective  To describe a case report of the clinical and functional profile of a child with KdVS and to present the implementation of a physiotherapy intervention for this child.

Methods  This is a retrospective case report of a male child, aged 3 years and 9 months, diagnosed with KdVS. Sociodemographic characterization was performed using the Poverty Income Ratio and the Brazil Economic Classification Criterion. Denver Developmental Screening Test II was used to screen for developmental delays. The physiotherapy program followed current recommendations focusing on task-specific training. Environmental factors were assessed by Affordances in the Home Environment for Motor Development. Additional assessments of age-expected motor skills and International Classification of Functioning, Disability and Health qualifiers were used.

Results  Treatment goals were partially achieved. The child showed improvement in activity levels and main-enance of home environment affordances.

Conclusion  This case report showed the benefits of physiotherapy intervention for a child with KdVS.

Koolen-de Vries Syndrome; Case report; Developmental delay; International Classification of Functioning, Disability and Health; Physiotherapy