{"doi":"10.1002/ajmg.a.63243","title":"Global health measures from a <scp>N</scp>ational <scp>D</scp>own <scp>S</scp>yndrome <scp>R</scp>egistry","abstract":"People with Down syndrome (DS) have a unique medical profile which may impact views of health. We aimed to study the use of global health measures for DS in a national cohort. We prospectively surveyed parents of individuals with DS from the DS-Connect® registry with validated Patient Reported Outcomes Measurement Information System (PROMIS)® instruments of global health. Analyses included use of scoring manuals and the PROMIS® scoring service, descriptive statistics, and t-tests. We received completed surveys from 223 parents of individuals with DS; previously published limitations of the instrument in this population were shown again. T-scores differed from the available comparative standardized scores to these measures from PROMIS® reference population on Fatigue (p < 0.001) and Global Health (p < 0.001), but not on Pain Interference (p = 0.41).","journal":"American Journal of Medical Genetics Part A","year":2023,"id":370085,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":7,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9394,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1062050,"name":"Kelsey Haugen","orcid":null,"position":1,"is_corresponding":false},{"id":453367,"name":"Karen Donelan","orcid":"0000-0001-7131-5147","position":2,"is_corresponding":false},{"id":218377,"name":"Brian G. Skotko","orcid":"0000-0002-5232-9882","position":3,"is_corresponding":false},{"id":556413,"name":"Stephanie L. Santoro","orcid":"0000-0002-4172-0288","position":0,"is_corresponding":true}],"reference_count":24,"raw_metadata":null,"created_at":"2026-07-19T01:15:37.094100Z","pmid":"37183579","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}