Universidad del Valle, Facultad de Salud, Escuela de Medicina, Cali, Colombia.
Universidad del Valle, Facultad de Salud, Escuela de Ciencias Básicas, Cali, Colombia.
Colomb Med (Cali). 2023 May 20;54(2):e4005089. doi: 10.25100/cm.v54i2.5089. eCollection 2023 Apr-Jun.
Fragile X syndrome is caused by the expansion of CGG triplets in the gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities. The physical and neurologic manifestations of the disease appear early in life and may suggest the diagnosis. However, it must be confirmed by molecular tests. It affects multiple areas of daily living and greatly burdens the affected individuals and their families. Fragile X syndrome is the most common monogenic cause of intellectual disability and autism spectrum disorder; the diagnosis should be suspected in every patient with neurodevelopmental delay. Early interventions could improve the functional prognosis of patients with Fragile X syndrome, significantly impacting their quality of life and daily functioning. Therefore, healthcare for children with Fragile X syndrome should include a multidisciplinary approach.
脆性 X 综合征是由基因中的 CGG 三核苷酸扩展引起的，这种扩展会导致表观遗传变化，从而使其表达沉默。这个基因编码的蛋白质 FMRP 的缺失会导致细胞功能障碍，从而导致大脑发育受损和功能异常。这种疾病的身体和神经表现很早就出现了，可能提示诊断。但是，必须通过分子测试来确认。它影响日常生活的多个领域，给受影响的个体及其家庭带来很大负担。脆性 X 综合征是最常见的单基因智力残疾和自闭症谱系障碍的原因；对于有神经发育迟缓的患者，应怀疑患有脆性 X 综合征。早期干预可以改善脆性 X 综合征患者的功能预后，显著影响他们的生活质量和日常功能。因此，脆性 X 综合征患儿的医疗保健应包括多学科方法。
