Bender B G, Harmon R J, Linden M G, Robinson A
Department of Pediatrics, National Jewish Center for Immunology and Respiratory Medicine, Denver, CO 80206, USA.
Pediatrics. 1995 Aug;96(2 Pt 1):302-8.
Children with sex chromosome abnormalities (SCA) are known to be at increased risk for neuromotor, language, learning, and behavioral problems, but little is known of psychosocial adaptation of SCA adolescents. This study was conducted to evaluate psychologic characteristics of unselected SCA adolescents, including socialization, educational progress, separation from family, and incidence and severity of psychiatric disturbance.
Thirty-nine propositi identified through the screening of 40,000 consecutive Denver newborns, including boys with 47,XXY karyotypes and girls with 47,XXX, 45,X, and partial X monosomy, or SCA mosaic karyotypes, have been followed longitudinally into adolescence. Twenty-seven siblings served as controls. Between 12 and 19 years of age, all participated in blind psychiatric interviews and were administered standardized intelligence and achievement tests.
SCA propositi demonstrated a mean IQ score 21 points lower than that of control subjects. In addition, lower mean scores were seen on achievement test results as well as lower overall psychosocial adaptation scores and increased incidence of psychiatric disturbance. Depression was the most frequent psychiatric diagnosis. Propositi were more likely to receive special education assistance in high school and were less likely to graduate from high school than were controls. Of the three nonmosaic propositi groups, the 47,XXX girls demonstrated the poorest overall psychosocial adaptation and highest degree of psychiatric disturbance. Mosaic girls were indistinguishable from control subjects. Marked variability was found among all three nonmosaic groups, with some individuals in each group demonstrating relatively strong psychosocial adaptation.
The presence of nonmosaic sex chromosome abnormality increases the risk for impeded cognitive skills, learning abilities, and psychosocial adaptation in adolescence. The factors that allow for stronger adaptation in some of these adolescents include the presence of a stable and supportive family environment. The outlook for adaptation in unselected SCA adults remains uncertain.
已知性染色体异常（SCA）儿童出现神经运动、语言、学习和行为问题的风险增加，但对于SCA青少年的心理社会适应情况知之甚少。本研究旨在评估未经挑选的SCA青少年的心理特征，包括社交、教育进展、与家庭分离情况以及精神障碍的发生率和严重程度。
通过对40000例连续的丹佛新生儿进行筛查，确定了39名先证者，包括核型为47,XXY的男孩以及核型为47,XXX、45,X和部分X单体或SCA嵌合核型的女孩，并对他们进行了纵向追踪直至青春期。27名同胞作为对照。在12至19岁期间，所有人都参加了盲法精神科访谈，并接受了标准化智力和成就测试。
SCA先证者的平均智商得分比对照受试者低21分。此外，成就测试结果的平均得分也较低，整体心理社会适应得分较低，精神障碍的发生率增加。抑郁症是最常见的精神科诊断。与对照组相比，先证者在高中更有可能接受特殊教育援助，且高中毕业的可能性较小。在三个非嵌合先证者组中，47,XXX女孩的整体心理社会适应最差，精神障碍程度最高。嵌合女孩与对照受试者无差异。在所有三个非嵌合组中均发现了显著的变异性，每组中都有一些个体表现出相对较强的心理社会适应能力。
非嵌合性染色体异常的存在会增加青少年认知技能、学习能力和心理社会适应受到阻碍的风险。这些青少年中一些人能有更强适应能力的因素包括存在稳定且支持性的家庭环境。未经挑选的SCA成年人的适应前景仍不确定。
