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Validation of a predictive model for obstructive sleep apnea in people with Down syndrome.
Skotko, Brian G; Garza Flores, Alexandra; Elsharkawi, Ibrahim; Patsiogiannis, Vasiliki; McDonough, Mary Ellen; Verda, Damiano; Muselli, Marco; Hornero, Roberto; Gozal, David; Macklin, Eric A.
Afiliação
  • Skotko BG; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Garza Flores A; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
  • Elsharkawi I; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Patsiogiannis V; Department of Genetics, Cook Children's Hospital, Fort Worth, Texas, USA.
  • McDonough ME; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Verda D; Mitochondrial Medicine, Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Muselli M; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Hornero R; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Gozal D; Rulex Innovation Labs, Genoa, Italy.
  • Macklin EA; Rulex Innovation Labs, Genoa, Italy.
Am J Med Genet A ; 191(2): 518-525, 2023 02.
Article em En | MEDLINE | ID: mdl-36426646
Detecting obstructive sleep apnea (OSA) is important to both prevent significant comorbidities in people with Down syndrome (DS) and untangle contributions to other behavioral and mental health diagnoses. However, laboratory-based polysomnograms are often poorly tolerated, unavailable, or not covered by health insurance for this population. In previous work, our team developed a prediction model that seemed to hold promise in identifying which people with DS might not have significant apnea and, consequently, might be able to forgo a diagnostic polysomnogram. In this study, we sought to validate these findings in a novel set of participants with DS. We recruited an additional 64 participants with DS, ages 3-35 years. Caregivers completed the same validated questionnaires, and our study team collected vital signs, physical exam findings, and medical histories that were previously shown to be predictive. Patients then had a laboratory-based polysomnogram. The best modeling had a validated negative predictive value of 50% for an apnea-hypopnea index (AHI) > 1/hTST and 73.7% for AHI >5/hTST. The positive predictive values were 60% and 39.1%, respectively. As such, a clinically reliable screening tool for OSA in people with DS was not achieved. Patients with DS should continue to be monitored for OSA according to current healthcare guidelines.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Down / Apneia Obstrutiva do Sono Tipo de estudo: Guideline / Prognostic_studies / Qualitative_research / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Down / Apneia Obstrutiva do Sono Tipo de estudo: Guideline / Prognostic_studies / Qualitative_research / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos