Fernández-Jaén Alberto, Cigudosa Juan C, Martín Fernández-Mayoralas Daniel, Suela Javier, Fernández-Perrone Ana L, Calleja-Pérez Beatriz, López-Martín Sara
Hospital Quiron, Pozuelo de Alarcon, Espana.
Rev Neurol. 2014 Feb 24;58 Suppl 1:S65-70.
The medical literature contains a wide body of evidence supporting genetic involvement in neurodevelopmental disorders. Advances made in genetics and technology have increased the diagnostic cost-effectiveness of current studies from 3-5% to 30-40% in patients with intellectual disability or autism spectrum disorders. In this regard, chromosomal microarray studies display greater diagnostic power than conventional techniques (karyotype, subtelomeric analyses, etc.). The latest protocols in the biomedical field of the genetic study of these disorders cite chromosomal microarrays as the first-line analysis, while also recommending other specific studies depending on the patient's clinical features (fragile X syndrome, PTEN mutation, etc.). In the evaluation of other neurodevelopmental disorders (attention deficit hyperactivity disorder, learning disorders, etc.), the number of genetic tests carried out is limited and conditioned by the clinical characteristics or the patient's familial or personal history. Even in these situations, there are no genetic referral or evaluation protocols.
医学文献中有大量证据支持基因参与神经发育障碍。遗传学和技术的进步使目前对智力残疾或自闭症谱系障碍患者研究的诊断成本效益从3%-5%提高到了30%-40%。在这方面，染色体微阵列研究比传统技术（核型分析、亚端粒分析等）具有更强的诊断能力。这些疾病基因研究的生物医学领域的最新方案将染色体微阵列作为一线分析方法，同时还根据患者的临床特征（脆性X综合征、PTEN突变等）推荐其他特定研究。在评估其他神经发育障碍（注意力缺陷多动障碍、学习障碍等）时，所进行的基因检测数量有限，且受临床特征或患者家族史或个人史的制约。即使在这些情况下，也没有基因转诊或评估方案。
