识别患有 3q29 缺失综合征的发育不良异卵双胞胎。

IF 1.4 4区 心理学 Q4 CLINICAL NEUROLOGY Applied Neuropsychology: Child Pub Date : 2024-01-01 Epub Date: 2023-07-22 DOI:10.1080/21622965.2023.2235707
Cody Capps, Darlyne G Nemeth, Traci W Olivier, Steven D Felix
{"title":"识别患有 3q29 缺失综合征的发育不良异卵双胞胎。","authors":"Cody Capps, Darlyne G Nemeth, Traci W Olivier, Steven D Felix","doi":"10.1080/21622965.2023.2235707","DOIUrl":null,"url":null,"abstract":"<p><p>In 2005, the 3q29 deletion syndrome was identified and defined as a rare chromosomal anomaly that effects approximately one in 30,000-40,000 children. It has a complex neuropsychiatric profile, often resulting in developmental delays, intellectual disabilities, attentional deficits, classic physical traits, and behavioral health disturbances, including social and emotional issues. Rarely has this syndrome been seen and evaluated in fraternal twins, only one of whom has the 3q29 deletion syndrome. This case study highlights Twin 1's strengths and weaknesses and compares her 2020 neuropsychological data, including a comparison of her Reitan-Indiana Neuropsychological Battery (RINB) results to her 2022 profile, which reveals a failure-to-thrive profile.</p>","PeriodicalId":8047,"journal":{"name":"Applied Neuropsychology: Child","volume":" ","pages":"84-91"},"PeriodicalIF":1.4000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Identifying a failure-to-thrive fraternal twin profile with 3q29 deletion syndrome.\",\"authors\":\"Cody Capps, Darlyne G Nemeth, Traci W Olivier, Steven D Felix\",\"doi\":\"10.1080/21622965.2023.2235707\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>In 2005, the 3q29 deletion syndrome was identified and defined as a rare chromosomal anomaly that effects approximately one in 30,000-40,000 children. It has a complex neuropsychiatric profile, often resulting in developmental delays, intellectual disabilities, attentional deficits, classic physical traits, and behavioral health disturbances, including social and emotional issues. Rarely has this syndrome been seen and evaluated in fraternal twins, only one of whom has the 3q29 deletion syndrome. This case study highlights Twin 1's strengths and weaknesses and compares her 2020 neuropsychological data, including a comparison of her Reitan-Indiana Neuropsychological Battery (RINB) results to her 2022 profile, which reveals a failure-to-thrive profile.</p>\",\"PeriodicalId\":8047,\"journal\":{\"name\":\"Applied Neuropsychology: Child\",\"volume\":\" \",\"pages\":\"84-91\"},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Applied Neuropsychology: Child\",\"FirstCategoryId\":\"102\",\"ListUrlMain\":\"https://doi.org/10.1080/21622965.2023.2235707\",\"RegionNum\":4,\"RegionCategory\":\"心理学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/7/22 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Applied Neuropsychology: Child","FirstCategoryId":"102","ListUrlMain":"https://doi.org/10.1080/21622965.2023.2235707","RegionNum":4,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/7/22 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0

摘要

2005 年,3q29 缺失综合征被确认并定义为一种罕见的染色体异常,大约每 30,000-40,000 名儿童中就有一名患儿。它具有复杂的神经精神特征,通常会导致发育迟缓、智力障碍、注意力缺陷、典型的身体特征和行为健康障碍,包括社交和情绪问题。这种综合征很少在兄弟双胞胎中出现和评估,只有其中一个患有 3q29 缺失综合征。本病例研究强调了双胞胎 1 号的优缺点,并比较了她 2020 年的神经心理学数据,包括将她的雷坦-印第安纳神经心理测试(Reitan-Indiana Neuropsychological Battery,RINB)结果与她 2022 年的特征进行比较,结果显示双胞胎 1 号的特征是无法茁壮成长。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Identifying a failure-to-thrive fraternal twin profile with 3q29 deletion syndrome.

In 2005, the 3q29 deletion syndrome was identified and defined as a rare chromosomal anomaly that effects approximately one in 30,000-40,000 children. It has a complex neuropsychiatric profile, often resulting in developmental delays, intellectual disabilities, attentional deficits, classic physical traits, and behavioral health disturbances, including social and emotional issues. Rarely has this syndrome been seen and evaluated in fraternal twins, only one of whom has the 3q29 deletion syndrome. This case study highlights Twin 1's strengths and weaknesses and compares her 2020 neuropsychological data, including a comparison of her Reitan-Indiana Neuropsychological Battery (RINB) results to her 2022 profile, which reveals a failure-to-thrive profile.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Applied Neuropsychology: Child
Applied Neuropsychology: Child CLINICAL NEUROLOGY-PSYCHOLOGY
CiteScore
4.00
自引率
5.90%
发文量
47
期刊介绍: Applied Neuropsychology: Child publishes clinical neuropsychological articles concerning assessment, brain functioning and neuroimaging, neuropsychological treatment, and rehabilitation in children. Full-length articles and brief communications are included. Case studies of child patients carefully assessing the nature, course, or treatment of clinical neuropsychological dysfunctions in the context of scientific literature, are suitable. Review manuscripts addressing critical issues are encouraged. Preference is given to papers of clinical relevance to others in the field. All submitted manuscripts are subject to initial appraisal by the Editor-in-Chief, and, if found suitable for further considerations are peer reviewed by independent, anonymous expert referees. All peer review is single-blind and submission is online via ScholarOne Manuscripts.
期刊最新文献
Assessing neuropsychological profiles in adolescent females with suspected autism spectrum disorder: a multiple case study. Development of Persian Reading Comprehension Test and determination of its psychometric properties. Differential diagnosis: Understanding nonverbal learning disorder and autism spectrum disorder. Chanting and meditation: an 8-week intervention to promote executive functions in school-age children. About the relationship between executive function, theory of mind, and language abilities in children with autism: a systematic review.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1