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01-07-2018 | Brief Communication

Autism spectrum disorders are prevalent among patients with dystrophinopathies

Authors: Haruo Fujino, Toshio Saito, Tsuyoshi Matsumura, Saki Shibata, Yuko Iwata, Harutoshi Fujimura, Osamu Imura

Published in: Neurological Sciences | Issue 7/2018

Abstract

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.

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Hendriksen JG, Vles JS (2008) 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 23:477–481CrossRefPubMed

Kumagai T, Miura K, Ohki T, Matsumoto A, Miyazaki S, Nakamura M, Ochi N, Takahashi O (2001) Central nervous system involvements in Duchenne/Becker muscular dystrophy. No To Hattatsu 33:480–486PubMed

Wu JY, Kuban KC, Allred E, Shapiro F, Darras BT (2005) Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol 20:790–795CrossRefPubMed

Banihani R, Smile S, Yoon G, Dupuis A, Mosleh M, Snider A, McAdam L (2015) Cognitive and neurobehavioral profile in boys with Duchenne muscular dystrophy. J Child Neurol 30:1472–1482CrossRefPubMed

Ricotti V, Mandy WP, Scoto M, Pane M, Deconinck N, Messina S, Mercuri E, Skuse DH, Muntoni F (2016) Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations. Dev Med Child Neurol 58:77–84CrossRefPubMed

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 6:1265–1272CrossRef

Darke J, Bushby K, Le Couteur A, McConachie H (2006) Survey of behaviour problems in children with neuromuscular diseases. Eur J Paediatr Neurol 10:129–134CrossRefPubMed

Latimer R, Street N, Conway KC, James K, Cunniff C, Oleszek J, Fox D, Ciafaloni E, Westfield C, Paramsothy P (2017) Secondary conditions among males with Duchenne or Becker muscular dystrophy. J Child Neurol 32:663–670CrossRefPubMedPubMedCentral

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 21:639–647CrossRefPubMed

10.

Hinton VJ, Cyrulnik SE, Fee RJ, Batchelder A, Kiefel JM, Goldstein EM, Kaufmann P, De Vivo DC (2009) Association of autistic spectrum disorders with dystrophinopathies. Pediatr Neurol 41:339–346CrossRefPubMed

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 161:705–709CrossRefPubMed

12.

Taylor PJ, Betts GA, Maroulis S, Gilissen C, Pedersen RL, Mowat DR, Johnston HM, Buckley MF (2010) Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS One 5:e8803CrossRefPubMedPubMedCentral

Title: Autism spectrum disorders are prevalent among patients with dystrophinopathies
Authors: Haruo Fujino
Toshio Saito
Tsuyoshi Matsumura
Saki Shibata
Yuko Iwata
Harutoshi Fujimura
Osamu Imura
Publication date: 01-07-2018
Publisher: Springer Milan
Published in: Neurological Sciences / Issue 7/2018
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-018-3341-2

At a glance: The STEP trials

Springer Medicine

Autism spectrum disorders are prevalent among patients with dystrophinopathies

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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