Autism Spectrum Disorders In Children with Duschen Musculer Dystrophy

Background:   

Duchenne muscular dystrophy (DMD) is an X-linked recessive degenerative neuromuscular disorder characterized by deficient dystrophin. The gene that encodes for dystrophin has been mapped to chromosome Xq21. DMD has a prevalence of 1 in 35,000 males and its symptoms include delayed motor milestones and weakness of the proximal muscles, usually identified by age 5 years.

Autism is characterized by impairments in social interaction and verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. In addition to their behavioural deficits, up to 70% of individuals with AD have an intellectual disability. Previous studies on comorbidity of autism spectrum disorders (ASD) in subjects with DMD reported a frequency rate between 3.1 – 5.4 % (1, 2, 3).

Objectives:   

The aim of this study is to investigate the coexistence of ASD and DMD in a sample from Turkey.

Methods:   

The study involved 46 children and adolescent males with a diagnosis of DMD (mean age 7.4 ± 3.8). All subjects recruited from Istanbul Medical Faculty Pediatric Neurology Department between September – December 2010. A psychiatric assessment in a one-hour session was done based on DSM-IV Autistic Disorder Criteria. Additionally autistic symptoms were scored on the Childhood Autism Rating Scale.

Results:   

Three cases were diagnosed with ASD; two with autistic disorder and one with pervasive developmental disorder – not otherwise specified (PDD-NOS). Additionally two cases had mental retardation.

Conclusions:  

In this study the rate of coocurrance of ASD in DMD was 6.5 % that is significantly greater than expected by chance. And our finding confirms previous studies on association of DMD with ASD.

References

1. Wu JY, Kuban KC, Allred E, Shapiro F, Darras BT. Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol. 2005; 20(10): 790-795.
2. Hendriksen JG, Vles JS. Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive--compulsive disorder. J Child Neurol. 2008; 23(5): 477-481.
3. Darke J, Bushby K, Le Couteur A, McConachie H. Survey of behaviour problems in children with neuromuscular diseases. Eur J Paediatr Neurol 2006; 10: 129-134.