Center for Interdisciplinary Brain Sciences Research, Departments of Psychiatry and Behavioral Sciences.
Radiology.
Pediatrics. 2024 Oct 1;154(4). doi: 10.1542/peds.2023-065145.
To evaluate the developmental trajectory of key cognitive, social, and emotional features in girls with fragile X syndrome (FXS).
This longitudinal, parallel cohort study collected data between January 2018 and December 2022. Participants were evaluated 3 times with ∼12-18 months between visits. Participants included 65 girls with FXS, 6 to 16 years, and 52 age- and developmentally-matched girls without FXS. Participants' scores from direct assessment and caregiver report evaluated 3 cognitive domains (verbal abilities, nonverbal abilities, executive function) and 4 social-emotional domains (depression, general anxiety, social behavior, and social anxiety).
Participants included 117 girls (mean [M] [SD] age at study entry: FXS M = 10.59 [3.00]; comparison M = 10.45 [2.40])). Omnibus tests showed 4 domains with significant group differences: Verbal (P < .0001, eg, Differential Abilities Scale-II(DAS-II), Picture Vocabulary (-6.25 [1.87])), nonverbal (P < .0001, eg, Kaufman Test of Educational Achievement, Third Edition, Brief Form, Math (-8.56 [2.90])), executive function (P < .0001, eg, NIH Toolbox List Sorting (-6.26 [1.48])), and social anxiety (P < .03, eg, Anxiety, Depression, and Mood Scale (ADAMS) Social Avoidance (1.50 [0.65])). Three domains had significant group by age interaction: Verbal (P < .04, eg, DAS-II, Word Definitions (-1.33 [0.55])), social behavior (P < .01, eg, Social Responsiveness Scale-2 Social Communication (1.57 [0.51])), and social anxiety (P < .01, eg, ADAMS Social Avoidance (0.46 [0.19])).
These findings support the development of early, disorder specific interventions for girls with FXS targeting verbal and nonverbal skills, executive function, social behavior, and social anxiety.
评估脆性 X 综合征（FXS）女孩关键认知、社会和情感特征的发展轨迹。
本纵向、平行队列研究于 2018 年 1 月至 2022 年 12 月期间收集数据。参与者在 3 次就诊之间间隔约 12-18 个月进行评估。参与者包括 65 名年龄在 6 至 16 岁之间患有 FXS 的女孩和 52 名年龄和发育相匹配的没有 FXS 的女孩。参与者的直接评估和照顾者报告评分评估了 3 个认知领域（语言能力、非语言能力、执行功能）和 4 个社会情感领域（抑郁、一般焦虑、社会行为和社交焦虑）。
参与者包括 117 名女孩（研究开始时的平均[M] [SD]年龄：FXS M = 10.59 [3.00]；对照组 M = 10.45 [2.40]）。总体检验显示 4 个领域存在显著的组间差异：语言（P <.0001，例如，差异能力量表-II（DAS-II），图片词汇[-6.25 [1.87]]））），非语言（P <.0001，例如，考夫曼教育成就测验，第三版，简短形式，数学[-8.56 [2.90]]））），执行功能（P <.0001，例如，NIH 工具包列表排序[-6.26 [1.48]]）））和社交焦虑（P <.03，例如，焦虑、抑郁和情绪量表（ADAMS）社交回避（1.50 [0.65]））。3 个领域存在显著的组间年龄交互作用：语言（P <.04，例如，DAS-II，单词定义[-1.33 [0.55]））），社会行为（P <.01，例如，社会反应量表-2 社交沟通（1.57 [0.51]）））和社交焦虑（P <.01，例如，ADAMS 社交回避（0.46 [0.19]）））。
这些发现支持为患有 FXS 的女孩制定早期、特定于疾病的干预措施，针对语言和非语言技能、执行功能、社会行为和社交焦虑。
