Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology.
Marta SimoneLucia MargariFrancesco PompameaAndrea De GiacomoAlessandra GabelloneLucia MarzulliRoberto PalumbiPublished in: Journal of clinical medicine (2021)
A diagnosis of autism spectrum disorder is reported in up to 19% of dystrophinopathies. However, over the last ten years, only a few papers have been published on this topic. Therefore, further studies are required to analyze this association in depth and ultimately to understand the role of the brain dystrophin isoform in the pathogenesis of ASD and other neurodevelopmental disorders. In this paper, we report a clinical case of a patient affected by ASD and Duchenne muscular dystrophy, who carries a large deletion of the dystrophin gene. Then we present a brief overview of the literature about similar cases and about the potential role of the dystrophin protein in the neurobiology of autism spectrum disorder.
Keyphrases
- duchenne muscular dystrophy
- autism spectrum disorder
- intellectual disability
- attention deficit hyperactivity disorder
- muscular dystrophy
- systematic review
- case report
- randomized controlled trial
- gene expression
- white matter
- risk assessment
- binding protein
- dna methylation
- transcription factor
- multiple sclerosis
- subarachnoid hemorrhage
- human health
- protein protein