Neurological Sciences

, Volume 39, Issue 7, pp 1279–1282 | Cite as

Autism spectrum disorders are prevalent among patients with dystrophinopathies

  • Haruo FujinoEmail author
  • Toshio Saito
  • Tsuyoshi Matsumura
  • Saki Shibata
  • Yuko Iwata
  • Harutoshi Fujimura
  • Osamu Imura
Brief Communication


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.


Dystrophinopathies Duchenne muscular dystrophy Autism spectrum disorder Dystrophin Central nervous system Neurodevelopmental disorder 



The authors greatly appreciate the patients who participated in this study.

Funding source

This work was supported in part by the Ministry of Health, Labour and Welfare of Japan (the Research Grant on Comprehensive Research on Disability Health and Welfare and H26-shinkei-kin-ippan-004) and JSPS KAKENHI (25380926 and 17K14067).

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.

Supplementary material

10072_2018_3341_MOESM1_ESM.pdf (72 kb)
Supplemental Table 1 (PDF 71 kb)


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Copyright information

© Springer-Verlag Italia S.r.l., part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Special Needs EducationOita UniversityOitaJapan
  2. 2.Graduate School of Human SciencesOsaka UniversityOsakaJapan
  3. 3.Division of Child Neurology, Department of NeurologyNational Hospital Organization Toneyama National HospitalOsakaJapan
  4. 4.Department of NeurologyNational Hospital Organization Toneyama National HospitalOsakaJapan

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