Joshua T Lambert1, Andrew J Darmahkasih2, Paul S Horn3, Irina Rybalsky1, Karen C Shellenbarger4, Cuixia Tian3, Brenda L Wong4. 1. Neurology Division, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 2. Pediatric Residency Program, University of California-Irvine/Children's Hospital of Orange County, Orange, California. 3. Division of Neurology, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio. 4. Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts.
Abstract
INTRODUCTION: Becker muscular dystrophy (BMD) results in decreased dystrophin with implications for mental health. METHODS: This is a retrospective case series of neurodevelopmental, behavioral, and emotional symptoms and respective pharmacotherapies of 70 patients with BMD. RESULTS: Fifty-four (77.1%) patients exhibited at least one symptom, and 19 (27.1%) patients exhibited four or more symptoms. The most prevalent symptoms were specific learning disabilities or special education needs (31.4%), inattention/hyperactivity (35.7%), language/speech delays (35.7%), and emotional or behavioral dysregulation (38.6%). Fisher's exact tests indicated that anxiety was more prevalent with mutations upstream of exon 30 (P = .049), but the prevalence of other symptoms did not differ with respect to mutation sites. Similarly, the number of symptoms individual patients with BMD exhibited did not differ with respect to mutation sites. Seventeen (24.3%) patients required pharmacotherapy to manage symptoms. DISCUSSION: Neurodevelopmental, behavioral, and emotional symptoms are prevalent in patients with BMD regardless of dystrophin gene mutation site.
INTRODUCTION: Becker muscular dystrophy (BMD) results in decreased dystrophin with implications for mental health. METHODS: This is a retrospective case series of neurodevelopmental, behavioral, and emotional symptoms and respective pharmacotherapies of 70 patients with BMD. RESULTS: Fifty-four (77.1%) patients exhibited at least one symptom, and 19 (27.1%) patients exhibited four or more symptoms. The most prevalent symptoms were specific learning disabilities or special education needs (31.4%), inattention/hyperactivity (35.7%), language/speech delays (35.7%), and emotional or behavioral dysregulation (38.6%). Fisher's exact tests indicated that anxiety was more prevalent with mutations upstream of exon 30 (P = .049), but the prevalence of other symptoms did not differ with respect to mutation sites. Similarly, the number of symptoms individual patients with BMD exhibited did not differ with respect to mutation sites. Seventeen (24.3%) patients required pharmacotherapy to manage symptoms. DISCUSSION: Neurodevelopmental, behavioral, and emotional symptoms are prevalent in patients with BMD regardless of dystrophin gene mutation site.
Authors: Zaıda Koeks; Danique M J Hellebrekers; Nienke M van de Velde; Iris Alleman; Pietro Spitali; Hermine A van Duyvenvoorde; Jan J G M Verschuuren; Jos G M Hendriksen; Erik H Niks Journal: J Neuromuscul Dis Date: 2022