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Association of Duchenne Muscular Dystrophy With Autism Spectrum Disorder

Division of Pediatric Neurology, David Geffen School of Medicine, Mattel Children's Hospital at UCLA, Los Angeles, CA

Karl C. K. Kuban

Division of Pediatric Neurology, Boston University School of Medicine, Boston, MA

Elizabeth Allred

Division of Neuroepidemiology, Harvard Medical School, Harvard School of Public Health, Department of Neurology, Children's Hospital, Boston, MA

Frederic Shapiro

Neuromuscular Program, Children's Hospital Boston, Boston, MA, Department of Orthopedics, Harvard Medical School, Boston, MA

Basil T. Darras

Neuromuscular Program, Children's Hospital Boston, Boston, MA basil.darras{at}childrens.harvard.edu, Department of Neurology, Harvard Medical School

We hypothesize that Duchenne muscular dystrophy and autism spectrum disorder/pervasive developmental disorder co-occur with a greater than random frequency. In this study, we set out to reject the hypothesis that Duchenne muscular dystrophy and autism spectrum disorder/pervasive developmental disorder co-occur no more often than expected by chance. Two index cases and six additional boys with concomitant Duchenne muscular dystrophy and autism spectrum disorder were identified in a muscular dystrophy clinic that approximates the total number of Duchenne muscular dystrophy boys (158) in the state of Massachusetts. The rate of prevalence (6 of 158) was compared with the prevalence rate of autism spectrum disorder in boys in the general population (1.6 in 1000). We rejected the hypothesis that Duchenne muscular dystrophy and autism spectrum disorder co-occurrence was likely to be explained by chance (P = .006). We identify a previously unrecognized association of Duchenne muscular dystrophy with autism spectrum disorder. Further work might elucidate the level of association between these two conditions, either at the genetic or at the protein level, and might clarify, at least partially, the neurobiologic mechanisms associated with autism spectrum disorder. (J Child Neurol 2005;20:790—795).

Journal of Child Neurology, Vol. 20, No. 10, 790-795 (2005)
DOI: 10.1177/08830738050200100201


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