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

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.

Scoping review of Physiotherapy intervention for a rare disease Cornelia de Lange Syndrome (CdLS)/ Brachman de Lange syndrome in children

“…4 -Intensive Neuromotor Therapy improves motor skills of children with Cornelia de Lange Syndrome: case report. [8] A child's gross motor function and engagement in daily activities were both improved after receiving INMT for CDLS. To determine whether INMT is effective for children with CdLS, more research with bigger cohorts is required.…”

“…As a result, this form of testing for CdLS might not be appropriate. [8] The most effective genetic test for detecting a change in a gene linked to CdLS is panel sequencing. Panel sequencing examines multiple genes at the same time.…”

“…Gross motor development using the larger muscles and fine motor development involving the smaller muscles are two types of motor development involving the small muscles of the body. [8] Motor development is almost always delayed in CdLS, and developmental milestones should be regularly observed. Children with CdLS may accomplish milestones (such as sitting, walking, and speaking) at a younger age than children with CdLS caused by mutations in the NIPBL gene, according to some data.…”

“…Many questions have arisen in the minds of parents, such as how we can help our child, is there a cure for it, and so on. [8] Parents, relatives, and neighbors play an essential part in the child-parent relationship; their daily and social lifestyles can have a bad or beneficial impact on this relationship. Parents should ignore what others say and tell friends that a child, like others, has his own abilities and that giving him the best care and attention possible will place him in a better position.…”

Cornelia De Lange Syndrome in the International Classification of Functioning, Disability and Health Perspetive: A Case Report

“…5 In a study, ICF was used to assess the success of Intensive Neuromotor Therapy (INMT) on participation and gross motor function in children with CdLS. 7 Early diagnosis and intervention in CdLS patients are important to handle the problems, prevent disabilities, and improve the patient's future quality of life. CdLS is a challenging case, especially for the Physical Medicine and Rehabilitation (PM&R) Department, due to various disabilities that may occur to the patient.…”