Intensive Neuromotor Therapy improves motor skills of children with Cornelia de Lange Syndrome: case report

Tainá Ribas Mélo,Eduardo Borba Neves,Vera Lucia Israel,Alexandre De Aguiar Sabbag,Jheniffer Freitas,Claudiana Renata Chiarello

doi:10.1590/1980-5918.032.ao44

Abstract

Abstract Introduction: The Cornelia de Lange Syndrome (CdLS) is a rare genetic syndrome. Children with CdLS usually require physical therapy, however the efficacy of physical therapy intervention in this population is lacking in the research literature. Objective: The aim of this study was to report the effect of Intensive Neuromotor Therapy (INMT) on gross motor function and participation of a child with CdLS using the International Classification of Functioning, Disabilities and Health (ICF) model. Method: A Brazilian child with CdLS was followed for over seven months while undergoing three modules of INMT. Results: The child demonstrated an evolution of gross motor function with gains of 11.28% in the first module, 9.22% in the second module, and 10.29% in the third module of INMT. Conclusion: INMT resulted in improvements in gross motor function and participation during daily activities in a child with CDLS. Further studies of larger cohorts are needed to investigate the efficacy of INMT in children with CdLS.

Highlights

The Cornelia de Lange Syndrome (CdLS) is a rare genetic syndrome
The aim of this study was to report the effect of Intensive Neuromotor Therapy (INMT) on gross motor function and participation of a child with CdLS using the International Classification of Functioning, Disabilities and Health (ICF) model
Considering CdLS as a rare syndrome and poorly described in terms of possibilities of intervention, physical therapy is an option for a child with neuromotor disorders caused by this syndrome [9]

Summary

Introduction

The Cornelia de Lange Syndrome (CdLS) is a rare genetic syndrome. Objective: The aim of this study was to report the effect of Intensive Neuromotor Therapy (INMT) on gross motor function and participation of a child with CdLS using the International Classification of Functioning, Disabilities and Health (ICF) model. CdLS is considered as a rare genetic development syndrome [2], affecting 0.5 to 0.6 for each 100.000 born [1], without distinction of race. This syndrome is more prevalent in female with a proportion of 3:1 [3]. There are 5 genes commonly identified as causative (NIPBL, RAD21, SMC3, a hemizyous pathogenic variant in HDAC8 or SMC1A), with NIPBL (Nipped B gene Like) being the most common [4, 5], even some studies showing normal karyotype [6], which leads to the possibility of several phenotypic manifestations

Objectives

Methods

Results

Conclusion