Soares Fabrício M, Rosa Bruna F, Giordani Gabriela M, Rocha Daniele L, Brusius-Facchin Ana Carolina, Becker Michele M, Saute Jonas Alex M
Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Medicina: Ciências Médicas, Porto Alegre, RS, Brazil.
Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.
J Pediatr (Rio J). 2025 Jul-Aug;101(4):536-543. doi: 10.1016/j.jped.2025.01.014. Epub 2025 Jun 6.
Neurodevelopmental disorders are frequently and heterogeneously diagnosed among patients with dystrophinopathies. The authors aimed to evaluate how the symptoms of Attention-Deficit/Hyperactivity Disorder (ADHD), Obsessive-Compulsive Disorder (OCD), or Autism Spectrum Disorder (ASD), and genotype are related to DMD genotype.
In an observational cross-sectional study, standardized instruments were applied to 50 participants and their caregivers, mainly from a reference center for rare diseases in Southern Brazil (n = 38) or other Brazilian centers (n = 12). Participants were divided according to genotype and affected dystrophin isoforms.
The overall diagnostic rate of symptoms of ASD was 34 %, similar to OCD (35.5 %), with half of the participants (51.4 %) having symptoms compatible with ADHD. Cerebral isoforms were affected in more than half of the participants (52 %). Symptoms compatible with ASD and OCD, and Childhood Autism Rating Scale (CARS) scores were associated with genotype and impairment of cerebral isoforms of dystrophin.
The prevalence of symptoms compatible with ASD (and higher CARS scores) and OCD among patients with dystrophinopathies are related to the position of the causal variant in DMD and the consequent involvement of cerebral isoforms, indicating an important genotype-phenotype correlation. The diagnosis of a patient with a genotype that affects these isoforms indicates the need for neuropsychological assessment and multidisciplinary follow-up.
在肌营养不良症患者中，神经发育障碍的诊断频繁且具有异质性。作者旨在评估注意力缺陷多动障碍（ADHD）、强迫症（OCD）或自闭症谱系障碍（ASD）的症状以及基因型与杜氏肌营养不良症（DMD）基因型之间的关系。
在一项观察性横断面研究中，对50名参与者及其照顾者应用了标准化工具，这些参与者主要来自巴西南部一家罕见病参考中心（n = 38）或其他巴西中心（n = 12）。参与者根据基因型和受影响的肌营养不良蛋白亚型进行分组。
ASD症状的总体诊断率为34%，与OCD（35.5%）相似，一半的参与者（51.4%）有与ADHD相符的症状。超过一半的参与者（52%）的大脑亚型受到影响。与ASD和OCD相符的症状以及儿童自闭症评定量表（CARS）得分与基因型和肌营养不良蛋白大脑亚型的损伤有关。
肌营养不良症患者中与ASD相符的症状（以及较高的CARS得分）和OCD的患病率与DMD中致病变异的位置以及大脑亚型的相应受累有关，表明存在重要的基因型 - 表型相关性。对具有影响这些亚型的基因型的患者进行诊断表明需要进行神经心理学评估和多学科随访。
