• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

22q11.2 缺失综合征个体从儿童期到成年期的教育和就业轨迹。

Education and employment trajectories from childhood to adulthood in individuals with 22q11.2 deletion syndrome.

机构信息

The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 5262000, Tel Hashomer, Israel.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

出版信息

Eur Child Adolesc Psychiatry. 2019 Jan;28(1):31-42. doi: 10.1007/s00787-018-1184-2. Epub 2018 Jun 22.

DOI:10.1007/s00787-018-1184-2
PMID:29934817
Abstract

22q11.2 deletion syndrome (22q11.2DS) is the most common known microdeletion in humans occurring in 1 out of 2000-4000 live births, with increasing numbers of individuals with the microdeletion living into adulthood. The aim of the study was to explore the education and employment trajectories of individuals with 22q11.2DS from childhood to adulthood in a large cohort composed of two significant samples. 260 individuals with 22q11.2DS, 134 male and 126 female, aged 5-59 years (mean age 21.3 ± 10.8 years) were evaluated at two sites, Geneva (GVA) and Tel Aviv (TA). Psychiatric comorbidities, IQ score, and adaptive functioning were assessed using gold-standard diagnostic tools. Demographic factors, such as data about education, employment, marital status, and living status, were collected. Children entering elementary school (5-12 years) were significantly more likely to attend a mainstream school, while adolescents were significantly more likely to attend special education schools (p < 0.005). Cognitive abilities, and not adaptive functioning, predicted school placement. Among adults with 22q11.2DS (n = 138), 57 (41.3%) were unemployed, 46 (33.3%) were employed in open market employment, and 35 (25.4%) worked in assisted employment. In adulthood, adaptive functioning more than cognitive abilities predicted employment. Surprisingly, psychotic spectrum disorders were not found to be associated with employment. Individuals with 22q11.2DS are characterized by heterogeneity in educational and employment profiles. We found that cognitive abilities and adaptive functioning, and not the presence of psychiatric disorders, are key factors in school placement and employment. These factors should, therefore, be taken into account when planning optimal development of individuals with 22q11.2DS.

摘要

22q11.2 缺失综合征(22q11.2DS)是人类中最常见的微缺失,每 2000-4000 例活产中就有 1 例,越来越多的微缺失个体能够活到成年。本研究的目的是在由两个重要样本组成的大型队列中,从儿童期到成年期探索 22q11.2DS 个体的教育和就业轨迹。在两个地点,日内瓦(GVA)和特拉维夫(TA),评估了 260 名 22q11.2DS 个体,其中 134 名男性和 126 名女性,年龄 5-59 岁(平均年龄 21.3±10.8 岁)。使用金标准诊断工具评估精神共病、智商得分和适应功能。收集了人口统计学因素,如教育、就业、婚姻状况和生活状况的数据。进入小学(5-12 岁)的儿童更有可能进入主流学校,而青少年更有可能进入特殊教育学校(p<0.005)。认知能力而不是适应功能预测学校安置。在有 22q11.2DS 的成年人中(n=138),57 人(41.3%)失业,46 人(33.3%)在开放市场就业,35 人(25.4%)在辅助就业。在成年期,适应功能比认知能力更能预测就业。令人惊讶的是,精神分裂症谱系障碍与就业无关。22q11.2DS 个体的教育和就业特征存在异质性。我们发现,认知能力和适应功能,而不是精神疾病的存在,是学校安置和就业的关键因素。因此,在规划 22q11.2DS 个体的最佳发展时,应考虑这些因素。

相似文献

1
Education and employment trajectories from childhood to adulthood in individuals with 22q11.2 deletion syndrome.22q11.2 缺失综合征个体从儿童期到成年期的教育和就业轨迹。
Eur Child Adolesc Psychiatry. 2019 Jan;28(1):31-42. doi: 10.1007/s00787-018-1184-2. Epub 2018 Jun 22.
2
Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study.负性亚精神病症状可将 22q11.2 缺失综合征与其他神经发育障碍区分开来:一项两地研究。
Schizophr Res. 2017 Oct;188:42-49. doi: 10.1016/j.schres.2016.12.023. Epub 2016 Dec 29.
3
Higher adaptive functioning and lower rate of psychotic comorbidity in married versus unmarried individuals with 22q11.2 deletion syndrome.22q11.2 缺失综合征患者中,已婚者的适应功能更高,精神病合并症发生率更低。
Am J Med Genet A. 2018 Nov;176(11):2365-2374. doi: 10.1002/ajmg.a.38555. Epub 2017 Nov 24.
4
Exploring the potential association among sleep disturbances, cognitive impairments, and immune activation in 22q11.2 deletion syndrome.探索22q11.2缺失综合征中睡眠障碍、认知障碍和免疫激活之间的潜在关联。
Am J Med Genet A. 2020 Mar;182(3):461-468. doi: 10.1002/ajmg.a.61424. Epub 2019 Dec 14.
5
[Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome].[22q11.2缺失综合征的神经认知与精神管理]
Encephale. 2015 Jun;41(3):266-73. doi: 10.1016/j.encep.2014.10.005. Epub 2014 Dec 16.
6
Subthreshold social cognitive deficits may be a key to distinguish 22q11.2DS from schizophrenia.阈下社会认知缺陷可能是区分22q11.2缺失综合征与精神分裂症的关键。
Early Interv Psychiatry. 2019 Apr;13(2):304-307. doi: 10.1111/eip.12557. Epub 2018 Mar 25.
7
Risk factors and the evolution of psychosis in 22q11.2 deletion syndrome: a longitudinal 2-site study.22q11.2 缺失综合征中精神病的风险因素和演变:一项纵向 2 站点研究。
J Am Acad Child Adolesc Psychiatry. 2013 Nov;52(11):1192-1203.e3. doi: 10.1016/j.jaac.2013.08.008. Epub 2013 Aug 29.
8
Deep psychophysiological phenotyping of adolescents and adults with 22q11.2 deletion syndrome: a multilevel approach to defining core disease processes.22q11.2 缺失综合征青少年和成人的深度心理生理学表型:定义核心疾病过程的多层次方法。
BMC Psychiatry. 2023 Jun 13;23(1):425. doi: 10.1186/s12888-023-04888-5.
9
Effectiveness and side effects of psychopharmacotherapy in individuals with 22q11.2 deletion syndrome with comorbid psychiatric disorders: a systematic review.22q11.2 缺失综合征合并精神障碍个体的精神药物治疗的有效性和副作用:系统评价。
Eur Child Adolesc Psychiatry. 2020 Aug;29(8):1035-1048. doi: 10.1007/s00787-019-01326-4. Epub 2019 Apr 4.
10
The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome.22q11.2 缺失综合征患者精神病理学的维度结构。
J Psychiatr Res. 2017 Sep;92:124-131. doi: 10.1016/j.jpsychires.2017.04.006. Epub 2017 Apr 15.

引用本文的文献

1
Systematic Scoping Review of Socioeconomic Burden and Associated Psychosocial Impact in Patients With Rare Kidney Diseases and Their Caregivers.罕见肾病患者及其照顾者的社会经济负担及相关心理社会影响的系统综述
Kidney Int Rep. 2024 Dec 10;10(3):838-854. doi: 10.1016/j.ekir.2024.12.005. eCollection 2025 Mar.
2
Driving Innovation to Support Pupils with SEND Through Co-Production in Education and Research: Participatory Action Research with 22q11.2 Deletion Syndrome Families in England.通过教育与研究中的联合生产推动创新以支持有特殊教育需要和残疾的学生:与英格兰22q11.2缺失综合征家庭开展的参与式行动研究
Behav Sci (Basel). 2024 Dec 30;15(1):22. doi: 10.3390/bs15010022.
3

本文引用的文献

1
Higher adaptive functioning and lower rate of psychotic comorbidity in married versus unmarried individuals with 22q11.2 deletion syndrome.22q11.2 缺失综合征患者中,已婚者的适应功能更高,精神病合并症发生率更低。
Am J Med Genet A. 2018 Nov;176(11):2365-2374. doi: 10.1002/ajmg.a.38555. Epub 2017 Nov 24.
2
Systematic review of quality of life and functional outcomes in randomized placebo-controlled studies of medications for attention-deficit/hyperactivity disorder.注意缺陷多动障碍药物随机安慰剂对照研究中生活质量和功能结局的系统评价
Eur Child Adolesc Psychiatry. 2017 Nov;26(11):1283-1307. doi: 10.1007/s00787-017-0986-y. Epub 2017 Apr 20.
3
Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion.
伴有22q11.2微缺失的成年人中的肥胖与代谢综合征
Int J Obes (Lond). 2025 Apr;49(4):642-648. doi: 10.1038/s41366-024-01685-2. Epub 2024 Nov 30.
4
Cognitive, adaptive and daily life functioning in adults with 22q11.2 deletion syndrome.22q11.2缺失综合征成年患者的认知、适应能力及日常生活功能
BJPsych Open. 2024 Nov 11;10(6):e203. doi: 10.1192/bjo.2024.745.
5
The clinical course of individuals with 22q11.2 deletion syndrome converting to psychotic disorders: a long-term retrospective follow-up.22q11.2缺失综合征患者转化为精神障碍的临床病程:一项长期回顾性随访研究
Eur Child Adolesc Psychiatry. 2024 Dec;33(12):4371-4379. doi: 10.1007/s00787-024-02469-9. Epub 2024 Jun 4.
6
Work participation in adults with rare genetic diseases - a scoping review.罕见遗传病成人的工作参与情况——范围综述。
BMC Public Health. 2023 May 19;23(1):910. doi: 10.1186/s12889-023-15654-3.
7
Clinical management of psychosis in 22q11.2 deletion syndrome.22q11.2缺失综合征中精神病的临床管理
J Psychiatry Neurosci. 2022 Nov 8;47(6):E391-E392. doi: 10.1503/jpn.220091. Print 2022 Nov-Dec.
8
Deletion Syndrome 22q11.2: A Systematic Review.22q11.2缺失综合征:一项系统评价
Children (Basel). 2022 Aug 3;9(8):1168. doi: 10.3390/children9081168.
9
Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study.常规产科超声检查时测量胎儿透明隔腔(CSP)宽度对改善22q11.2缺失综合征诊断的效用:一项病例对照研究。
Appl Clin Genet. 2022 Jul 26;15:87-95. doi: 10.2147/TACG.S364543. eCollection 2022.
10
Medical, welfare, and educational challenges and psychological distress in parents caring for an individual with 22q11.2 deletion syndrome: A cross-sectional survey in Japan.22q11.2 缺失综合征患儿父母的医疗、福利和教育挑战及心理困扰:日本的一项横断面调查。
Am J Med Genet A. 2022 Jan;188(1):37-45. doi: 10.1002/ajmg.a.62485. Epub 2021 Sep 3.
Social cognitive impairment in 22q11 deletion syndrome: A review.
22q11 缺失综合征的社会认知障碍:综述。
Psychiatry Res. 2017 Jul;253:99-106. doi: 10.1016/j.psychres.2017.01.103. Epub 2017 Feb 23.
4
Supported employment and education in comprehensive, integrated care for first episode psychosis: Effects on work, school, and disability income.首发精神病综合、综合护理中的支持性就业与教育:对工作、学业及残疾收入的影响
Schizophr Res. 2017 Apr;182:120-128. doi: 10.1016/j.schres.2016.09.024. Epub 2016 Sep 23.
5
The clinical presentation of attention deficit-hyperactivity disorder (ADHD) in children with 22q11.2 deletion syndrome.22q11.2缺失综合征患儿注意力缺陷多动障碍(ADHD)的临床表现。
Am J Med Genet B Neuropsychiatr Genet. 2015 Dec;168(8):730-8. doi: 10.1002/ajmg.b.32378. Epub 2015 Sep 24.
6
Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome.22q11.2缺失综合征的行为和精神表型
J Dev Behav Pediatr. 2015 Oct;36(8):639-50. doi: 10.1097/DBP.0000000000000210.
7
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.9500 多例妊娠中复发性致病性微缺失和微重复的患病率
Prenat Diagn. 2015 Aug;35(8):801-9. doi: 10.1002/pd.4613. Epub 2015 Jun 24.
8
Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome.22q11.2缺失综合征患者精神病发作前的认知衰退。
JAMA Psychiatry. 2015 Apr;72(4):377-85. doi: 10.1001/jamapsychiatry.2014.2671.
9
Practical guidelines for managing adults with 22q11.2 deletion syndrome.22q11.2缺失综合征成年患者管理实用指南。
Genet Med. 2015 Aug;17(8):599-609. doi: 10.1038/gim.2014.175. Epub 2015 Jan 8.
10
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.22q11.2缺失综合征从儿童期到成年期的精神障碍:22q11.2缺失综合征脑与行为国际联盟的研究结果
Am J Psychiatry. 2014 Jun;171(6):627-39. doi: 10.1176/appi.ajp.2013.13070864.