摘要
目的分析河南省儿童医院近5年管理的410例青少年特纳综合征(TS)患儿发生神经认知异常及相关情绪行为问题的状况,并探讨其与染色体核型、青春期发育状况及激素替代治疗的相关性。方法回顾性病例系列研究。选取2018年6月至2023年6月在河南省儿童医院内分泌遗传代谢科门诊或病房通过染色体核型或免疫原位杂交(FISH)确诊的410例青少年TS患儿,根据年龄分为<12岁和12~18岁组,依据韦氏儿童智力测试量表(第4版)及儿童行为测评量表结果进行神经认知评估,应用SPSS 22.0软件进行数据处理和统计学分析,采用χ^(2)检验分析染色体核型、智力发育水平、青春期发育状况、激素治疗状况与神经精神疾病发生状况相关性。结果410例TS患儿中,染色体核型特点为45,X0/46,XX核型207例(占50.49%),45,X0单体核型94例(占22.93%)。其中46例患儿完成韦氏智力测试,总智商在70~105,言语理解及知觉推理在所有评估中得分高,加工速度、工作记忆得分低。52例患儿完成多动量表评估,有注意缺陷多动障碍(ADHD)倾向43例。核型45,X0、嵌合型、X染色体结构异常患儿的总智商、知觉推理指数、加工速度指数比较差异均无统计学意义(H=3.161、1.955、5.890,均P>0.05),言语理解指数、工作记忆指数比较差异均有统计学意义(H=7.697、9.694,均P<0.05)。在12~18岁TS患儿中,68例完成抑郁量表自评,其中23例有抑郁倾向。合并抑郁倾向与染色体核型、青春期发育及激素替代治疗进行统计学比较,共病抑郁症倾向与三者无相关性(P>0.05)。结论TS患儿智力水平总体较低,在儿童期有ADHD的倾向,处于青春发育期的TS患儿抑郁倾向发生率高,TS患儿青春期发育状况及激素替代治疗与神经精神疾病的发生无相关性。
Objective To analyze the neurocognitive abnormalities and related emotional and behavioral problems in 410 adolescent patients with Turner syndrome(TS)managed in Henan Children′s Hospital in the past 5 years,and to explore the relationship between neurocognitive abnormalities and chromosome karyotype,pubertal development,hormone replacement therapy.MethodsA retrospective case series study.A total of 410 adolescent patients who were diagnosed with TS by karyotype or fluorescence in situ hybridization in the outpatient or inpatient Department of Endocrinology,Genetics and Metabolism at Henan Children′s Hospital from June 2018 to June 2023 were selected and divided into 2 groups according to age:<12 years old and 12-18 years old.Neurocognitive assessments were performed based on the results of the Wechsler Intelligence Scale(4 th edition)for children and behavior scales for children,SPSS 22.0 software was used for data processing and statistical analysis,and chi-square test was used to analyze the correlation between chromosome karyotype,intelligence development level,pubertal development status,hormone therapy status and the occurrence of neuropsychiatric diseases.ResultsAmong the 410 TS patients,207 cases had the karyotype of 45,X0/46,XX,accounting for 50.49%,94 cases had the monosomic karyotype of 45,X0,accounting for 22.93%.Forty-six patients completed the Wechsler intelligence test,with the intelligence quotient(IQ)score ranging from 70 to 105,with high verbal comprehension and perceptual reasoning scores and low processing speed and working memory scores on all assessments.Fifty-two patients completed the hyperactivity scale assessment,and 43 cases had a predisposition to attention deficit hyperactivity disorder(ADHD).There were no significant differences in total IQ,perceptual reasoning and processing speed among the children with karyotype 45,X0,chimeric,and X chromosome structural abnormalities(H=3.161,1.955,5.890,all P>0.05),while there were significant differences in verbal comprehension and working memory among the three groups(H=7.697,9.694,all P<0.05).Among TS patients 12-18 years old,68 cases completed the depression scale self-assessment,of which 23 cases had depressive tendencies.There was no correlation between depressive tendency and chromosome karyotype,pubertal development and hormone replacement therapy(P>0.05).ConclusionsTS patients generally have low intelligence levels and tend to have ADHD in childhood.TS patients in the pubertal development have a high incidence of depression.Pubertal development status and hormone replacement therapy show no correlation with the occurrence of neuropsychiatric diseases in TS patients.
作者
刘晓景
郝会民
高静
袁淑娴
刘素华
陈永兴
丁敏利
钱秋谨
卫海燕
Liu Xiaojing;Hao Huimin;Gao Jing;Yuan Shuxian;Liu Suhua;Chen Yongxing;Ding Minli;Qian Qiujin;Wei Haiyan(Department of Endocrinology,Genetics and Metabolism,Henan Children's Hospital,Zhengzhou 450018,China;Research Office of Pediatric Psychiatry Research,Peking University Sixth Hospital,Beijing 100191,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2024年第11期858-861,共4页
Chinese Journal of Applied Clinical Pediatrics
基金
河南省科技厅项目(232102310088)
郑州市科技惠民计划项目(2022KJHM005)。
关键词
特纳综合征
注意缺陷多动障碍
抑郁症
Turner syndrome
Attention hyperactivity disorder
Depression
作者简介
通信作者:卫海燕,Email:haiyanwei2009@163.com。
