Schoch Kelly, Harrell Waverly, Hooper Stephen R, Ip Edward H, Saldana Santiago, Kwapil Thomas R, Shashi Vandana
1Duke University Health Systems, Durham, NC, USA.
J Learn Disabil. 2014 Mar-Apr;47(2):153-66. doi: 10.1177/0022219412443556. Epub 2012 May 9.
Chromosome 22qll.2 deletion syndrome (22qllDS) is the most common microdeletion in humans. Nonverbal learning disability (NLD) has been used to describe the strengths and deficits of children with 22q11DS, but the applicability of the label for this population has seldom been systematically evaluated. The goal of the current study was to address how well the NLD diagnosis characterizes children and adolescents with 22q11DS. A total of 74 children and adolescents with 22q11DS were given neurocognitive, socioemotional, and academic assessments to measure aspects of NLD. Of the cohort, 20% met at least 7 of 9 assessed criteria for NLD; 25% showed verbal skills exceeding their nonverbal skills as assessed by an IQ test; and 24% showed the good rote verbal capacity commonly associated with NLD. Hypothesizing that if the entire cohort did not show consistent NLD characteristics, the descriptor might be more accurate for a distinct subgroup, the authors used latent class analysis to divide participants into three subgroups. However, the lines along which the groups broke out were more related to general functioning level than to NLD criteria. All three groups showed a heightened risk for psychiatric illness, highlighting the importance of careful mental health monitoring for all children with 22qllDS.
22号染色体qll.2微缺失综合征(22qllDS)是人类最常见的微缺失。非言语学习障碍(NLD)已被用于描述22q11DS患儿的优势和缺陷,但该标签对这一群体的适用性很少得到系统评估。本研究的目的是探讨NLD诊断对22q11DS儿童和青少年的特征描述效果如何。共有74名22q11DS儿童和青少年接受了神经认知、社会情感和学业评估,以测量NLD的各个方面。在该队列中,20%的人符合NLD评估的9项标准中的至少7项;25%的人在智商测试中表现出言语能力超过非言语能力;24%的人表现出通常与NLD相关的良好机械言语能力。作者假设,如果整个队列没有表现出一致的NLD特征,那么该描述符可能对一个独特的亚组更准确,于是使用潜在类别分析将参与者分为三个亚组。然而,分组的界限更多地与总体功能水平相关,而不是与NLD标准相关。所有三个组都显示出患精神疾病的风险增加,这突出了对所有22qllDS儿童进行仔细心理健康监测的重要性。