{"id":"W4394579849","doi":"10.1001/jamapediatrics.2024.0492","title":"Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy","year":2024,"lang":"en","type":"letter","venue":"JAMA Pediatrics","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":60,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Medicine; Newborn screening; Spinal muscular atrophy; Pediatrics; Cohort; SMA*; Clinical trial; Cohort study; Disease; Physical therapy; Neuromuscular disease; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01331404,0.0006374682,0.001754072,0.0006458748,0.0002811521,0.0009777746,0.000655517,0.001162509,0.003059058],"category_scores_gemma":[0.0555339,0.0001894329,0.001830828,0.0004678551,0.0007186712,0.001035369,0.0006835685,0.0006962589,0.0002368404],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008591781,"about_ca_system_score_gemma":0.001120709,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009161881,"about_ca_topic_score_gemma":0.0009424148,"domain_scores_codex":[0.983279,0.01301777,0.00104168,0.0009057012,0.001502285,0.0002535877],"domain_scores_gemma":[0.9589672,0.03051496,0.006598239,0.001026189,0.0008908409,0.002002523],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.2312755,0.005353306,0.4200016,0.004498052,0.008052384,0.0005389422,0.0003702994,0.004721304,0.001216448,0.0007626681,0.00357942,0.31963],"study_design_scores_gemma":[0.02166856,0.163824,0.7728534,0.002863166,0.0146959,0.002347023,0.00051311,0.01188703,0.002412211,0.001866491,0.004917671,0.0001514293],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"commentary","genre_scores_codex":[0.9299564,0.05750194,0.0008840248,0.001940144,0.0003797688,0.000569318,0.001086903,0.00006879534,0.007612616],"genre_scores_gemma":[0.9969096,0.001627408,0.000590527,0.0002429765,0.00008183127,0.0001077976,0.0002641357,0.000005058163,0.0001706664],"genre_candidate":"commentary","genre_consensus":null,"teacher_disagreement_score":0.01331404,"threshold_uncertainty_score":0.07041222,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05653503125254493,"score_gpt":0.3867351687094878,"score_spread":0.3302001374569429,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}