A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation.

ABSTRACT:

Objectives

Children with microcephaly face lifelong psychomotor, cognitive, and communications skills disabilities. Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays, and poor communication skills. Molecular diagnostics have outpaced available interventions and most children receive generic physical, speech, and occupational therapies with little attention to the efficacy of such treatments. Mutations in the X-linked intellectual disability gene (XLID) CASK is one etiology associated with microcephaly which produces mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH; OMIM# 300749). We pilot-tested an intensive therapy in thre

SUBMITTER: DeLuca SC 

PROVIDER: S-EPMC5735954 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature