Abstract：
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.].
摘要：
脆性X综合征是智力障碍最常见的遗传形式。在年轻时识别脆性X综合征可能非常具有挑战性，因为经典的身体特征通常存在于儿童晚期或青春期早期；因此，重要的是要考虑对所有无法解释的发育迟缓的男性进行基因检测，智力残疾,自闭症，发育迟缓的女性，智力残疾或自闭症，有脆性X基因紊乱的家族史.没有特定的治疗方法来管理脆性X综合征。尽管如此，及时转诊早期干预对于帮助最大限度地提高儿童的学习潜力至关重要，以及转介儿童心理学，如果存在任何行为问题。对于有脆性X综合征病史的家庭来说，获得遗传咨询至关重要，因为它可以帮助未来的生殖决策和这种疾病未来复发的风险。[佩迪亚特·安。2024；53（7）：e269-e271。].
