脆性 X 综合征:普通儿科医生综述》。

IF 1.1 4区 医学 Q3 PEDIATRICS
Astrid Mendez, Magda Mendez
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引用次数: 0

摘要

脆性 X 综合征是最常见的遗传性智力残疾。由于典型的身体特征通常出现在童年晚期或青春期早期,因此在年幼时识别脆性 X 综合征是相当具有挑战性的;因此,对于所有患有不明原因的发育迟缓、智力障碍和自闭症的男性,患有发育迟缓、智力障碍或自闭症的女性,以及有脆性 X 基因疾病家族史的人,都必须考虑进行基因检测。目前还没有治疗脆性 X 综合征的特效药。不过,及时转诊接受早期干预对于最大限度地发挥儿童的学习潜能以及在出现任何行为问题时转诊到儿童心理学部门是至关重要的。对于有脆性 X 综合征病史的家庭来说,最重要的是获得遗传咨询,因为这有助于未来的生育决定和这种疾病未来复发的风险。[2024;53(7):e269-e271.].
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Fragile X Syndrome: A Review for General Pediatricians.

Fragile X syndrome is the most commonly inherited form of intellectual disability. Identifying fragile X syndrome at a young age can be quite challenging because the classical physical features usually present in late childhood or early adolescence; therefore, it is important to consider genetic testing for all males with unexplained developmental delays, intellectual disability, and autism, females with developmental delays, intellectual disability or autism, and a family history of fragile X gene disorders. There is no specific treatment to manage fragile X syndrome. Still, a prompt referral for early intervention is essential to help maximize the child's learning potential, as well as a referral to child psychology if any behavioral concerns are present. It is of paramount importance for families with a history of fragile X syndrome to have access to genetic counseling as it can aid in future reproductive decisions and the risk of future recurrences of this condition. [Pediatr Ann. 2024;53(7):e269-e271.].

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来源期刊
Pediatric Annals
Pediatric Annals 医学-小儿科
CiteScore
1.80
自引率
0.00%
发文量
104
审稿时长
2 months
期刊介绍: Published for more than 40 years, Pediatric Annals is an online-only, monthly medical review journal dedicated to providing pediatricians and other clinicians with the latest practical information on the diagnosis and treatment of pediatric diseases and disorders. Begin to explore the Journal and all of its great benefits such as: -Single-topic summary reviews of important trends in pediatric medicine -Access to current articles, as well as several years of archived content -Columns including Healthy Baby/Healthy Child and Case Challenges
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