Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome.
Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome.
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特纳综合征青少年多中心临床样本的神经心理学和心理健康问题。
DOI：
10.1002/ajmg.a.63103
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发表时间：
2023
期刊：
影响因子：
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通讯作者：
Crerand,CaniceE
中科院分区：
文献类型：
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作者：
Kremen,Jessica;Davis,ShanleeM;Nahata,Leena;Kapa,HillaryM;Dattilo,TaylorM;Liu,Enju;Hutaff-Lee,Christa;Tishelman,AmyC;Crerand,CaniceE
特纳综合征（TS）患者的临床实践指南推荐筛查神经心理问题（NC）和精神健康问题（MHC）。然而，目前的提供者筛选和转诊模式NC和MHC没有很好地表征。此外，在不同的研究中，NC和MHC的患病率和危险因素各不相同。这项多中心图表回顾研究检查了来自三个儿科学术医疗中心的631名TS患者的NC和MHC的患病率、危险因素和管理。48.2%的患者有NC和/或MHC记录。33.9%的患者记录了神经心理学评估建议；65.4%的样本随后完成了这些评估。35.0%的病历记录了精神卫生保健建议；随后的文件显示，69.7%的患者接受了此类服务。最值得注意的是，记录的MHC、NC和相关转诊的比率因地点而异，这表明需要标准化的筛查和转诊实践。儿童期早期TS诊断与NC风险增加相关。自发性月经初潮与MHC风险增加有关。开始使用生长激素的年龄越小，分离的NC和同时发生的NC和MHC的风险越高。花叶核型与NC和MHC风险降低相关。
Clinical practice guidelines for individuals with Turner syndrome (TS) recommend screening for neuropsychological concerns (NC) and mental health concerns (MHC). However, current provider screening and referral patterns for NC and MHC are not well characterized. Additionally, prevalence of and risk factors for NC and MHC vary across studies. This multicenter chart review study examined the prevalence, risk factors for, and management of NC and MHC in a cohort of 631 patients with TS from three pediatric academic medical centers. NC and/or MHC were documented for 48.2% of patients. Neuropsychological evaluation recommendations were documented for 33.9% of patients; 65.4% of the sample subsequently completed these evaluations. Mental health care recommendations were documented in 35.0% of records; subsequent documentation indicated that 69.7% of these patients received such services. Most notably, rates of documented MHC, NC, and related referrals differed significantly by site, suggesting the need for standardized screening and referral practices. TS diagnosis in early childhood was associated with an increased risk of NC. Spontaneous menarche was associated with increased risk of MHC. Younger age at growth hormone initiation was associated with both increased risk of isolated NC and co‐occurring NC and MHC. Mosaic karyotype was associated with decreased risk of NC and MHC.