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
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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。
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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.

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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.
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