Background Attention deficit and/or hyperactivity disorder (ADHD) is the most prevalent psychiatric disorder in children with 22q11.2 deletion syndrome (22q11DS) and frequently persists into adulthood. Although medication with stimulant has been demonstrated to be highly effective in idiopathic ADHD, evidence in 22q11DS is still scarce. Previous studies have shown safety and effectiveness of methylphenidate (MPH) on core symptoms of ADHD as well as improvement of associated cognitive deficits. However, only a limited number of cognitive domains have been explored. Methods Twenty-three participants with 22q11DS and attention difficulties, aged 8–24 years, entered a clinical trial aiming to specify the effects of MPH on clinical symptoms, cognition, and daily-life behavior. The effects of treatment were compared with/without medication in a within-subject design. The trial included both participants naïve to the molecule and chronic users. Results Benefit from the treatment was demonstrated through a decrease in core ADHD symptoms, specifically inattention symptoms, and improvement of cognitive measures of attention and inhibition. Conversely, no significant change was found for other executive functions (such as cognitive flexibility, working memory, initiation), learning, or memory. Moreover, no significant improvement on ecological measures of daily-life executive functioning was found, possibly because of the short treatment period. We replicated safety, and although very frequent, side effects were of mild intensity and comparable with previous findings. Conclusions This study extends the current knowledge on the effects of MPH in patients with 22q11DS. Treatment was found to be effective for core ADHD symptoms and cognitive measures of attention and inhibition.

中文翻译：

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哌醋甲酯对 22q11.2 缺失综合征的注意力和抑制作用的选择性作用：临床试验结果

背景注意力缺陷和/或多动障碍 (ADHD) 是 22q11.2 缺失综合征 (22q11DS) 儿童中最普遍的精神疾病，并且经常持续到成年期。尽管兴奋剂药物已被证明对特发性 ADHD 非常有效，但 22q11DS 的证据仍然很少。先前的研究表明哌醋甲酯 (MPH) 对 ADHD 核心症状的安全性和有效性以及相关认知缺陷的改善。然而，只探索了有限数量的认知领域。方法 23 名 22q11DS 和注意力困难的参与者，年龄在 8-24 岁，进入临床试验，旨在明确 MPH 对临床症状、认知和日常生活行为的影响。在受试者内设计中比较了有无药物治疗的效果。该试验包括对分子不熟悉的参与者和长期使用者。结果 通过减少核心 ADHD 症状，特别是注意力不集中症状，以及改善注意力和抑制的认知措施，证明了治疗的益处。相反，其他执行功能（如认知灵活性、工作记忆、启动）、学习或记忆没有显着变化。此外，没有发现日常生活执行功能的生态措施有显着改善，这可能是因为治疗时间短。我们复制了安全性，虽然非常频繁，但副作用强度轻微，与之前的发现相当。结论 本研究扩展了当前关于 MPH 对 22q11DS 患者影响的知识。治疗被发现对核心 ADHD 症状和注意力和抑制的认知测量是有效的。