{"id":"W2102941262","doi":"10.1186/s13023-014-0186-5","title":"Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1)","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke; Cégep de Jonquière; Université du Québec à Chicoutimi; Centre Intégré de Santé et de Services Sociaux des Laurentides","funders":"Canadian Institutes of Health Research; Canada Research Chairs; Muscular Dystrophy Canada","keywords":"Wechsler Adult Intelligence Scale; Myotonic dystrophy; Intelligence quotient; Audiology; Trinucleotide repeat expansion; Psychology; Pediatrics; Age of onset; Muscular dystrophy; Internal medicine; Medicine; Cognition; Clinical psychology; Psychiatry; Disease; Genetics; Biology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0006234578,0.0004718573,0.0002989797,0.00133836,0.0003042398,0.000340775,0.0003359256,0.0002801065,0.002308247],"category_scores_gemma":[0.002809223,0.0001281315,0.0002239122,0.0004140863,0.0004148406,0.0003101329,0.0007361352,0.0002293374,0.0002839416],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002787795,"about_ca_system_score_gemma":0.0001173136,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001114698,"about_ca_topic_score_gemma":0.001373187,"domain_scores_codex":[0.9996194,0.000071052,0.00007324832,0.0001094833,0.00008166991,0.00004515057],"domain_scores_gemma":[0.9985656,0.0004328186,0.0005150255,0.0000964774,0.0001461276,0.0002438318],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005795146,0.00007412638,0.9936515,0.0000232591,0.0001121466,0.0001737909,0.0002241591,0.00008541712,0.001094993,0.00002616975,0.00009912898,0.003855777],"study_design_scores_gemma":[0.00002016792,0.0003311563,0.9984567,0.000003032113,0.0000165268,0.0007291469,0.0001015759,0.00009968676,0.0001493275,0.0000165218,0.00007383926,0.000002320111],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996761,0.00005521256,0.00003709381,0.00000413514,8.20294e-7,0.000004658313,0.0001058134,0.000001809044,0.0001143956],"genre_scores_gemma":[0.9995385,0.00002283424,0.00006637193,0.000006192691,0.000003917824,0.000008236846,0.0002851229,0.000001227526,0.00006761847],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002308247,"threshold_uncertainty_score":0.007721841,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03163179637292268,"score_gpt":0.2627547433202627,"score_spread":0.23112294694734,"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."}}