{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T15:58:11Z","timestamp":1790611091986,"version":"4.1.0"},"reference-count":46,"publisher":"American Medical Association (AMA)","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Pediatr"],"abstract":"\n Importance<\/jats:title>\n Genetic etiologies are increasingly recognized in cerebral palsy (CP), yet diagnostic yields across different clinical subgroups and phenotypes remain inconsistent, limiting evidence-based prioritization of genetic testing.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n To determine the pooled diagnostic yield of genetic testing in CP and identify clinical and phenotypic predictors that influence diagnostic yields.<\/jats:p>\n <\/jats:sec>\n \n Data Sources<\/jats:title>\n A systematic search of PubMed, Embase, and the Cochrane Library was conducted for studies published between January 2010 and August 25, 2025.<\/jats:p>\n <\/jats:sec>\n \n Study Selection<\/jats:title>\n Peer-reviewed observational studies reporting genetic testing results in cohorts of at least 10 patients with CP.<\/jats:p>\n <\/jats:sec>\n \n Data Extraction and Synthesis<\/jats:title>\n \n Data were extracted independently by 2 reviewers following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines. A random-effects model with logit transformation was used to calculate pooled diagnostic yields with 95% CIs. Heterogeneity was evaluated using the\n I<\/jats:italic>\n 2<\/jats:sup>\n statistic and Cochran\n Q<\/jats:italic>\n test.\n <\/jats:p>\n <\/jats:sec>\n \n Main Outcomes and Measures<\/jats:title>\n The primary outcome was the pooled diagnostic yield of genetic testing stratified by CP etiology (cryptogenic, noncryptogenic, and mixed\/unselected cohorts). Secondary outcomes included diagnostic yields across phenotype-based subgroups defined by brain magnetic resonance imaging (MRI) findings, motor types, comorbidities, facial dysmorphism, congenital anomalies, and clinical trajectory.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n A total of 31 studies met inclusion criteria, of which 20 were included in the quantitative meta-analysis. The overall pooled diagnostic yield in unselected CP cohorts was 0.19 (95% CI, 0.11-0.32;\n I<\/jats:italic>\n 2<\/jats:sup>\n \u2009=\u200995.1%). In patients with cryptogenic CP, the yield was 0.44 (95% CI, 0.37-0.50;\n I<\/jats:italic>\n 2<\/jats:sup>\n \u2009=\u200972.2%), compared with 0.13 (95% CI, 0.07-0.21;\n I<\/jats:italic>\n 2<\/jats:sup>\n \u2009=\u200985.1%) in noncryptogenic cases. Higher yields were observed in patients with normal brain MRI findings (25%-80%), facial dysmorphism (66%-71%), congenital anomalies (85%), and neurological atypical features (50%). Combined next-generation sequencing and chromosomal microarray analysis provided the highest pooled yield of 0.53 (95% CI, 0.43-0.62) in the cryptogenic subgroup.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions and Relevance<\/jats:title>\n In this systematic review and meta-analysis, genetic testing demonstrated a high diagnostic yield in CP, particularly in cryptogenic cases and in patients with specific clinical phenotypes. These findings suggest the integration of genomic evaluation into the standard diagnostic workup for CP, guided by clinical indicators, to facilitate timely diagnosis and personalized management.<\/jats:p>\n <\/jats:sec>","DOI":"10.1001\/jamapediatrics.2026.4471","type":"journal-article","created":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T15:30:49Z","timestamp":1790609449000},"source":"Crossref","is-referenced-by-count":0,"title":["Diagnostic Yield of Genetic Testing in Cerebral Palsy"],"prefix":"10.1001","author":[{"given":"Sun-young","family":"Joo","sequence":"first","affiliation":[{"name":"Department of Rehabilitation Medicine, Incheon St Mary\u2019s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eun Jae","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo Ryun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation, Korea University Anam Hospital, Korea University College of Medicine, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaewon","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Incheon St Mary\u2019s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiyong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Seoul Rehabilitation Hospital, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye Jung","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Seoul St Mary\u2019s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin A","family":"Yoon","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Pusan National University School of Medicine and Biomedical Research Institute, Pusan National University Hospital, Busan, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"You Gyoung","family":"Yi","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Ewha Womans University Seoul Hospital, College of Medicine, Ewha Womans University, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyun Jung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation, Jeju National University Hospital, College of Medicine, Jeju National University, Jeju, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoo Young","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation, National Health Insurance Service Ilsan Hospital, Goyang, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ah-Ra","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Eunpyeong St. Mary\u2019s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ja Young","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Chungnam National University College of Medicine, Daejeon, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seungbeen","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Physical 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