Gothelf Doron, Gruber Reut, Presburger Gadi, Dotan Inbar, Brand-Gothelf Ayelet, Burg Merav, Inbar Dov, Steinberg Tamar, Frisch Amos, Apter Alan, Weizman Abraham
Feinberg Child Study Center, Schneider Children's Medical Center of Israel, 14 Kaplan Street, PO Box 559, Petah Tiqwa, Israel 49202.
J Clin Psychiatry. 2003 Oct;64(10):1163-9. doi: 10.4088/jcp.v64n1004.
Velocardiofacial syndrome (VCFS) is a common microdeletion syndrome associated with psychiatric morbidity and developmental disabilities. Although attention-deficit/hyperactivity disorder (ADHD) is the most common psychiatric problem associated with VCFS, there are no reports on methylphenidate treatment in this patient population. Indeed, clinicians have commonly avoided the use of methylphenidate in children with VCFS because of concerns about ineffectiveness or psychotic exacerbation.
Forty subjects of mean +/- SD age 11.0 +/- 5.0 years with VCFS were assessed for DSM-IV diagnoses using the Schedule for Affective Disorders and Schizophrenia for School-Aged Children, Present and Lifetime Version, and its extended ADHD module (K-SADS-P-ADHD). Those found to have comorbid ADHD were treated with methylphenidate, 0.3 mg/kg once daily. Treatment efficacy was evaluated after 4 weeks with the K-SADS-P-ADHD, the Conners' Abbreviated Teacher Questionnaire, and the Conners' Continuous Performance Test. Side effects were evaluated with a modified version of the Barkley Side Effects Rating Scale.
Of the 18 subjects (45%) diagnosed with ADHD, 12 agreed to participate in the study. Their ADHD symptoms, both behavioral and cognitive, improved significantly with treatment. None of the patients showed clinical worsening or psychotic symptoms. Side effects were usually mild and did not warrant discontinuation of methylphenidate. The most common side effects were anorexia and depressive-like symptoms.
This open-label study indicates that methylphenidate is effective and safe in patients with VCFS. Therefore, its current limited use in this population seems to be unjustified. Larger, controlled clinical and pharmacogenetic studies are needed to confirm these findings.
腭心面综合征（VCFS）是一种常见的微缺失综合征，与精神疾病和发育障碍相关。虽然注意力缺陷多动障碍（ADHD）是与VCFS相关的最常见精神问题，但尚无关于该患者群体使用哌甲酯治疗的报道。实际上，由于担心无效或精神病性症状加重，临床医生通常避免在患有VCFS的儿童中使用哌甲酯。
使用适用于学龄儿童的情感障碍和精神分裂症量表（目前和终生版本）及其扩展的ADHD模块（K-SADS-P-ADHD），对40名平均年龄为11.0±5.0岁的VCFS患者进行DSM-IV诊断评估。那些被发现合并ADHD的患者接受哌甲酯治疗，每日一次，剂量为0.3mg/kg。4周后，使用K-SADS-P-ADHD、康纳斯教师简式问卷和康纳斯连续操作测试评估治疗效果。使用修改版的巴克利副作用评定量表评估副作用。
在18名（45%）被诊断为ADHD的患者中，12名同意参加研究。他们的ADHD症状，包括行为和认知方面，在治疗后有显著改善。没有患者出现临床症状恶化或精神病性症状。副作用通常较轻，无需停用哌甲酯。最常见的副作用是食欲不振和类似抑郁的症状。
这项开放标签研究表明，哌甲酯对VCFS患者有效且安全。因此，目前该药物在这一人群中使用受限似乎没有道理。需要进行更大规模的对照临床和药物遗传学研究来证实这些发现。
