Stephanie C DeLuca1,2,3,4, Dory A Wallace5, Mary Rebekah Trucks5, Konark Mukherjee5,6,7. 1. Virginia Tech Carilion Research Institute, Neuromotor Clinic 2 Riverside Circle, Roanoke, VA, 24016, USA. stephdeluca@vt.edu. 2. Department of Pediatrics, Virginia Tech Carilion School of Medicine, Roanoke, VA, USA. stephdeluca@vt.edu. 3. Rehabilitation Health and Wellness, Jefferson College of Health Sciences, Roanoke, VA, USA. stephdeluca@vt.edu. 4. School of Neuroscience & Department of Psychology, Virginia Tech, Blacksburg, VA, USA. stephdeluca@vt.edu. 5. Virginia Tech Carilion Research Institute, Neuromotor Clinic 2 Riverside Circle, Roanoke, VA, 24016, USA. 6. Department of Psychiatry, Virginia Tech Carilion School of Medicine, Roanoke, VA, USA. 7. Department of Biological Science, Virginia Tech, Blacksburg, VA, USA.
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 three girls with heterozygous mutation in the gene CASK and MICPCH. Child A = 54 months; Child B = 89 months; and Child C = 24 months received a targeted treatment to improve gross/fine motor skills, visual-motor coordination, social interaction, and communication. Treatment was 4 h each weekday for 10 treatment days. Operant training promoted/refined goal-directed activities. The Peabody Developmental Motor Scales 2 was administered pre- and post-treatment. RESULTS: Child A gained 14 developmental months; Child B gained 20 developmental months; and Child C gained 39 developmental months. This case series suggests that children with MICPCH are responsive to intensive therapy aimed at increasing functional skills/independence. Trial Registration ClinicalTrials.gov Registration Number: NCT03325946; Release Date: October 30, 2017.
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 three girls with heterozygous mutation in the gene CASK and MICPCH. Child A = 54 months; Child B = 89 months; and Child C = 24 months received a targeted treatment to improve gross/fine motor skills, visual-motor coordination, social interaction, and communication. Treatment was 4 h each weekday for 10 treatment days. Operant training promoted/refined goal-directed activities. The Peabody Developmental Motor Scales 2 was administered pre- and post-treatment. RESULTS:Child A gained 14 developmental months; Child B gained 20 developmental months; and Child C gained 39 developmental months. This case series suggests that children with MICPCH are responsive to intensive therapy aimed at increasing functional skills/independence. Trial Registration ClinicalTrials.gov Registration Number: NCT03325946; Release Date: October 30, 2017.
Authors: P A Patel; C Liang; A Arora; S Vijayan; S Ahuja; P K Wagley; R Settlage; L E W LaConte; H P Goodkin; I Lazar; S Srivastava; K Mukherjee Journal: Exp Neurol Date: 2020-04-17 Impact factor: 5.330