Assesment of auistic tarit in patients with muscular dystrophy and clinical psychological supports

2015 Fiscal Year Final Research Report

• Project/Area Number: 25380926
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Clinical psychology
• Research Institution: Osaka University
• Principal Investigator: IMURA OSAMU 大阪大学, 人間科学研究科, 教授 (20176506)
• Co-Investigator(Renkei-kenkyūsha): SAITO TOSHIO 国立病院機構刀根山病院, 臨床研究部, 医師 (60538776) ; MATSMURA TSUYOSHI 国立病院機構刀根山病院, 臨床研究部, 医師 (30549366) ; FUJIMURA HARUTOSHI 国立病院機構刀根山病院, 臨床研究部, 医師 (20263246)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 筋ジストロフィー / 自閉スペクトラム症（ASD) / PARS-SF / SRS / エクソン / アイソフォーム / ジストロフィン遺伝子

Outline of Final Research Achievements

The aim of this study was to investigate the association between the location of mutations in the dystrophin gene and autistic characteristics.Patients with dystrophinopathies (n = 56; mean age = 12.9, SD = 5.2) participated in this study. Autistic characteristics were assessed using PARS-SF and SRS.Eighteen patients (32.1%) showed autistic characteristics by the PARS-SF infantile rating, while 11 patients (19.6%) also scored above the cut-off value on the PARS-SF current rating. Two of seven patients (29%) with mutations in exon 30-44 and five of 25 patients (20%) with mutations in exon 45-55 exceeded the cut-off value in both the infantile and current ratings of PARS-SF, whereas none of the patients with mutations in the exons upstream of exon 30 did so.
We found significantly higher ASD characteristics in patients with mutations in exon 45-55 compared to patients with mutations upstream of exon 30.

Free Research Field

臨床心理学