Autism spectrum disorders are prevalent among patients with dystrophinopathies
Recent studies have reported a higher prevalence of autism spectrum disorders among patients with dystrophinopathies. The aim of this study was to investigate the prevalence of autism spectrum disorder (ASD) among those with dystrophinopathies. The possible role of dystrophin isoforms in patients was also explored. Fifty-six patients recruited from Toneyama National Hospital were included in this study (mean age = 12.9 years, SD = 5.2 years). Autistic symptoms were evaluated using the Pervasive Developmental Disorders/Autism Spectrum Disorders Rating Scale (PARS), a clinician rating scale. Eleven patients (19.6%; 95% confidence interval 10.2–32.4) met the criteria for ASD based on their PARS scores. Patients were separated into two groups based on the cumulative loss of dystrophin isoforms predicted from the mutation location. The prevalence of ASD was examined between these groups. Infantile and current autistic symptoms did not differ between the groups, except on one subscale of the PARS. This study revealed that there was a high prevalence of ASD in patients with dystrophinopathies.
KeywordsDystrophinopathies Duchenne muscular dystrophy Autism spectrum disorder Dystrophin Central nervous system Neurodevelopmental disorder
The authors greatly appreciate the patients who participated in this study.
Compliance with ethical standards
Parental informed consent was obtained from all patients before enrolment into the study. The study protocol was approved by the local ethical committee of Toneyama National Hospital. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments.
Conflict of interest
The authors declare that they have no conflict of interest.
- 6.Ito H, Tani I, Yukihiro R, Adachi J, Hara K, Ogasawara M, Inoue M, Kamio Y, Nakamura K, Uchiyama T, Ichikawa H, Sugiyama T, Hagiwara T, Tsujii M (2012) Validation of an interview-based rating scale developed in Japan for pervasive developmental disorders. Res Autism Spectr Disord 6:1265–1272CrossRefGoogle Scholar
- 9.Colombo P, Nobile M, Tesei A, Civati F, Gandossini S, Mani E, Molteni M, Bresolin N, D'Angelo G (2017) Assessing mental health in boys with Duchenne muscular dystrophy: emotional, behavioural and neurodevelopmental profile in an Italian clinical sample. Eur J Paediatr Neurol 21:639–647CrossRefPubMedGoogle Scholar
- 11.Pane M, Lombardo ME, Alfieri P, D'Amico A, Bianco F, Vasco G, Piccini G, Mallardi M, Romeo DM, Ricotti V, Ferlini A, Gualandi F, Vicari S, Bertini E, Berardinelli A, Mercuri E (2012) Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation. J Pediatr 161:705–709CrossRefPubMedGoogle Scholar