Neurodevelopmental and Behavioral Pediatrics, Department of Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, 13123 East 16th Avenue, Aurora, CO, USA.
J Dev Behav Pediatr. 2012 May;33(4):309-18. doi: 10.1097/DBP.0b013e31824501c8.
Attentional problems, hyperactivity, and impulsivity have been described as behavioral features associated with sex chromosome aneuploidy (SCA). In this study, the authors compare attention-deficit hyperactivity disorder (ADHD) symptoms in 167 participants aged 6 to 20 years with 4 types of SCA (XXY n = 56, XYY n = 33, XXX n = 25, and XXYY n = 53). They also evaluate factors associated with ADHD symptomatology (cognitive and adaptive scores, prenatal vs postnatal ascertainment) and describe the clinical response to psychopharmacologic medications in a subset of patients treated for ADHD.
Evaluation included medical and developmental history, cognitive and adaptive functioning assessment, and parent and teacher ADHD questionnaires containing DSM-IV criteria.
In the total study group, 58% (96/167) met DSM-IV criteria for ADHD on parent-report questionnaires (36% in XXY, 52% in XXX, 76% in XYY, and 72% in XXYY). The Inattentive subtype was most common in XXY and XXX, whereas the XYY and XXYY groups were more likely to also have hyperactive/impulsive symptoms. There were no significant differences in Verbal, Performance, or Full Scale IQ between children with symptom scores in the ADHD range compared with those below the ADHD range. However, adaptive functioning scores were significantly lower in the group whose scores in the ADHD range were compared with those of the group who did not meet ADHD DSM-IV criteria. Those with a prenatal diagnosis of XXY were less likely to meet criteria for ADHD compared with the postnatally diagnosed group. Psychopharmacologic treatment with stimulants was effective in 78.6% (66/84).
Children and adolescents with SCA are at increased risk for ADHD symptoms. Recommendations for ADHD evaluation and treatment in consideration of other aspects of the SCA medical and behavioral phenotype are provided.
注意力问题、多动和冲动已被描述为与性染色体非整倍体（SCA）相关的行为特征。在这项研究中，作者比较了 167 名 6 至 20 岁患有 4 种 SCA（XXY，n=56；XYY，n=33；XXX，n=25；XXYY，n=53）的患者的注意缺陷多动障碍（ADHD）症状。他们还评估了与 ADHD 症状相关的因素（认知和适应评分、产前与产后确定），并描述了一组接受 ADHD 治疗的患者对精神药物治疗的临床反应。
评估包括医疗和发育史、认知和适应功能评估以及父母和教师 ADHD 问卷，其中包含 DSM-IV 标准。
在整个研究组中，58%（96/167）的患者符合父母报告问卷的 DSM-IV 标准（XXY 组为 36%，XXX 组为 52%，XYY 组为 76%，XXYY 组为 72%）。在 XXY 和 XXX 中，注意力不集中亚型最为常见，而 XYY 和 XXYY 组更可能同时存在多动/冲动症状。与 ADHD 范围内的症状评分相比，在 ADHD 范围内的评分与 ADHD 范围内的评分相比，言语、表现或全量表智商没有显著差异。然而，在 ADHD 范围内的评分与不满足 ADHD DSM-IV 标准的评分相比，适应功能评分显著较低。与产后诊断的 XXY 组相比，产前诊断的 XXY 组更不可能符合 ADHD 的标准。兴奋剂的精神药理学治疗对 78.6%（66/84）的患者有效。
SCA 患儿和青少年患 ADHD 症状的风险增加。为考虑 SCA 医学和行为表型的其他方面，提供了 ADHD 评估和治疗的建议。
