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Neurodevelopmental, behavioral, and emotional symptoms common in Duchenne muscular dystrophy
Author(s) -
Darmahkasih Andrew J.,
Rybalsky Irina,
Tian Cuixia,
Shellenbarger Karen C.,
Horn Paul S.,
Lambert Joshua T.,
Wong Brenda L.
Publication year - 2020
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26803
Subject(s) - duchenne muscular dystrophy , dystrophin , neurodevelopmental disorder , psychology , muscular dystrophy , medicine , emotional dysregulation , speech delay , pediatrics , clinical psychology , psychiatry , autism
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.