Andrew J Darmahkasih1, Irina Rybalsky2, Cuixia Tian3, Karen C Shellenbarger4, Paul S Horn3, Joshua T Lambert2, Brenda L Wong4. 1. Pediatric Residency Program, University of California, Irvine/Children's Hospital of Orange County, Orange, California. 2. Neurology Division, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 3. Division of Neurology, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio. 4. Department of Pediatrics, University of Massachusetts Medical School, Worchester, Massachusetts.
Abstract
INTRODUCTION: We studied neurodevelopmental and behavioral/emotional symptoms in patients with Duchenne muscular dystrophy (DMD). METHODS: Retrospective case series of neurodevelopmental and behavioral/emotional symptoms obtained through review of systems of 700 DMD patients in relation to dystrophin gene mutations. RESULTS: The most common symptoms encountered were emotional/behavioral dysregulation (38.7%), inattention/hyperactive features (31.4%), obsessive and compulsive features (25.0%), and language/speech delays (24.4%). Most patients (72.7%) had at least one symptom. Patients with mutations near the 3' end of the dystrophin gene were at higher risk for developing inattention/hyperactive features, language/speech delays, and global intellectual delays. Those with mutations between exon 31 and 79 had higher risk of clustering of symptoms when compared with those upstream of exon 30. DISCUSSION: Neurodevelopmental, emotional, and behavioral symptoms are common comorbidities in DMD. There is higher prevalence of inattention/hyperactive features, language/speech delays, and global intellectual delays in genotypes affecting the 3' end of the dystrophin gene.
INTRODUCTION: We studied neurodevelopmental and behavioral/emotional symptoms in patients with Duchenne muscular dystrophy (DMD). METHODS: Retrospective case series of neurodevelopmental and behavioral/emotional symptoms obtained through review of systems of 700 DMDpatients in relation to dystrophin gene mutations. RESULTS: The most common symptoms encountered were emotional/behavioral dysregulation (38.7%), inattention/hyperactive features (31.4%), obsessive and compulsive features (25.0%), and language/speech delays (24.4%). Most patients (72.7%) had at least one symptom. Patients with mutations near the 3' end of the dystrophin gene were at higher risk for developing inattention/hyperactive features, language/speech delays, and global intellectual delays. Those with mutations between exon 31 and 79 had higher risk of clustering of symptoms when compared with those upstream of exon 30. DISCUSSION: Neurodevelopmental, emotional, and behavioral symptoms are common comorbidities in DMD. There is higher prevalence of inattention/hyperactive features, language/speech delays, and global intellectual delays in genotypes affecting the 3' end of the dystrophin gene.
Authors: Michael Stirm; Lina Marie Fonteyne; Bachuki Shashikadze; Magdalena Lindner; Maila Chirivi; Andreas Lange; Clara Kaufhold; Christian Mayer; Ivica Medugorac; Barbara Kessler; Mayuko Kurome; Valeri Zakhartchenko; Arne Hinrichs; Elisabeth Kemter; Sabine Krause; Rüdiger Wanke; Georg J Arnold; Gerhard Wess; Hiroshi Nagashima; Martin Hrabĕ de Angelis; Florian Flenkenthaler; Levin Arne Kobelke; Claudia Bearzi; Roberto Rizzi; Andrea Bähr; Sven Reese; Kaspar Matiasek; Maggie C Walter; Christian Kupatt; Sibylle Ziegler; Peter Bartenstein; Thomas Fröhlich; Nikolai Klymiuk; Andreas Blutke; Eckhard Wolf Journal: Dis Model Mech Date: 2021-12-16 Impact factor: 5.758