Purpose: The presentation and underlying etiology of Cerebral Palsy (CP) in general are heterogenous. Clinical features present differently in pediatric versus adult patient populations. Many metabolic and genetic conditions present with clinical symptoms suggestive of CP. Precision medicine practices are currently a standard of care, and Next-Generation-Sequencing (NGS) tools are used for the purpose of diagnosis and management. We describe the diagnostic yield and impact on management of NGS comparing a cohort of 102 children and 37 adults with CP, referred to two tertiary care centres between 2015 and 2020 (adult cohort) and 2017–2020 (pediatric cohort) respectively.

Principal results: In the adult cohort, 28 patients had a positive genetic diagnosis, giving a yield of 75.6%. Their age varied between 18 and 59 years, with a median of 28 years. Out of the positive diagnoses, 12 were consistent with an inborn error of metabolism and in 9 patients (32.1%) some form of treatment or management guideline was recommended. In the pediatric cohort 21 patients had a positive genetic diagnosis and 22 results are still pending, giving a yield of 32.8%. Age at diagnosis ranged between 18 months and 12 years. In 15 patients (71.4%) there was some form of management recommendation. All families benefited from genetic counseling.

Major conclusions: Given the combined high yield of positive genetic diagnosis in pediatric and adult cases presenting with symptoms of Cerebral Palsy, and the more readily available Next Generation Sequencing testing in major academic centres, we recommend that either a referral to a pediatric or adult neurometabolic centre to be made, or genetic testing to be initiated where this is available.

目的：一般来说，脑瘫 (CP) 的表现和潜在病因是异质的。儿童和成人患者群体的临床特征不同。许多代谢和遗传病症都伴有提示 CP 的临床症状。精准医学实践目前是一种护理标准，下一代测序 (NGS) 工具用于诊断和管理。我们描述了 NGS 的诊断率和对管理的影响，比较了 102 名患有 CP 的儿童和 37 名成人，分别在 2015 年至 2020 年（成人队列）和 2017-2020 年（儿科队列）之间转诊到两个三级医疗中心。

主要结果：在成人队列中，28 名患者的基因诊断结果为阳性，检出率为 75.6%。他们的年龄介于 18 至 59 岁之间，中位数为 28 岁。在阳性诊断中，12 例符合先天性代谢错误，9 例 (32.1%) 推荐了某种形式的治疗或管理指南。在儿科队列中，有 21 名患者的基因诊断呈阳性，还有 22 名患者的结果仍在等待中，产率为 32.8%。诊断年龄介于 18 个月和 12 岁之间。15 名患者 (71.4%) 有某种形式的管理建议。所有家庭都受益于遗传咨询。

主要结论：鉴于在出现脑瘫症状的儿科和成人病例中阳性基因诊断的综合产量高，以及在主要学术中心更容易获得的下一代测序检测，我们建议转诊至儿科或成人神经代谢中心，或在可用的情况下启动基因测试。