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.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Darmahkasih AJ,Rybalsky I,Tian C,Shellenbarger KC,Horn PS,Lambert JT,Wong BLdoi
10.1002/mus.26803subject
Has Abstractpub_date
2020-04-01 00:00:00pages
466-474issue
4eissn
0148-639Xissn
1097-4598journal_volume
61pub_type
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