Journal of Pediatric Rehabilitation Medicine - Volume 14, issue 3

Authors: Ortiz-Santiago, Ana | Ramos, Edwardo

Article Type: Research Article

Abstract: Charcot-Marie-Tooth disease (CMT) is a progressive hereditary neuromuscular neuropathy with pathology in the myelin sheath or the axon. CMT caused by mutations in the Ganglioside-induced differentiation associated protein 1 (GDAP1 ) gene has been described by a spectrum of phenotypic presentations. GDAP1 is a mitochondrial protein responsible for protecting neuronal bodies from oxidative stress. It is associated with axonal and demyelinating pathophysiology with recessive and dominant modes of inheritance.We describe a case of a 9-year-old Puerto Rican female with clinical and electrodiagnostic results compatible with an axonal sensory-motor neuropathy where a genetic test describes a homozygous GDAP1 missense …mutation at the c.692C>T (p.Pro231Leu), previously undetected in a pediatric Latino patient. Mutations in GDAP1 have been previously described in Tunisian, Old Order Amish, European and Japanese families with varying modes of inheritance. To our knowledge, this homozygous variant presentation of the GDAP1 gene is the first to be described in a pediatric Puerto Rican patient without a family history of hereditary sensory motor neuropathy. Show more

Keywords: GDAP1, Charcot-Marie-Tooth disease, axonal neuropathy, pes-cavus

DOI: 10.3233/PRM-200695

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 14, no. 3, pp. 533-537, 2021

Authors: Burnfield, Judith M. | Cesar, Guilherme M. | Buster, Thad W.

Article Type: Case Report

Abstract: PURPOSE: Walking, fitness, and balance deficits are common following acquired brain injury (ABI). This study assessed feasibility, acceptability, and usefulness of a modified motor-assisted elliptical (ICARE) in addressing walking, fitness, and balance deficits in children with chronic ABIs. METHODS: Three children (> 5 years post-ABI) completed 24 ICARE exercise sessions (exercise time, speed, and time overriding motor-assistance gradually increased) to promote mass repetition of gait-like movements and challenge cardiorespiratory fitness. Parents’ and children’s perceptions of ICARE’s safety, comfort, workout, and usability were assessed. Cardiovascular response, gait and balance outcomes were assessed. RESULTS: No adverse events occurred. Parent’s …Visual Analogue Scale (VAS) scores of perceived device safety (range 80–99), workout (range 99–100), and usability (range 75–100) were high, while comfort were 76–80 given commercial harness fit and arm support. Children’s VAS scores all exceeded 89. Comfortable walking velocity, 2-Minute Walk Test, fitness, and Pediatric Balance Scale scores improved post-training, with many outcomes surpassing established minimal clinically important differences. CONCLUSION: Following engagement in moderate- to vigorous-intensity exercise promoting repetitive step-like movements on a specially adapted motor-assisted elliptical, three children with chronic ABI demonstrated improvements in walking, fitness and balance. Future research in community-based environments with a larger cohort of children with ABI is needed. Show more

Keywords: Children, brain injury, gait training, balance, fitness, technology, elliptical

DOI: 10.3233/PRM-200717

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 14, no. 3, pp. 539-551, 2021

Authors: Wang, Emily L. | Sukhov, Renat

Article Type: Case Report

Abstract: This case report details the complex rehabilitation of an adolescent patient with congenital heart disease with anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) who presented with a sudden cardiac arrest. The International Classification of Functioning, Disability and Health for Children and Youth, World Health Organization (ICF-CY WHO) principles were used to guide the course of the patient’s acute inpatient rehabilitation.

Keywords: ALCAPA, acute inpatient rehabilitation, ICF-CY principles

DOI: 10.3233/PRM-200783

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 14, no. 3, pp. 553-557, 2021

Authors: Kelly, Kiersten

Article Type: Book Review

Keywords: Book review, pediatric orthopedic surgery, pediatric rehabilitation medicine, medical fiction

DOI: 10.3233/PRM-210053

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 14, no. 3, pp. 559-560, 2021

Article Type: Calendar

DOI: 10.3233/PRM-219011

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 14, no. 3, pp. 561-565, 2021

Article Type: Other

DOI: 10.3233/PRM-219010

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 14, no. 3, pp. 567-567, 2021