Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program

Ellen F Macnamara¹, Amelia Loydpierson², Yvonne L Latour³, Precilla D'Souza⁴, Jennifer Murphy⁴, Lynne Wolfe¹, Tyra Estwick⁵, Jean M Johnston¹, John Yang¹; Undiagnosed Diseases Network⁶; Maria T Acosta¹, Paul R Lee⁷, Tyler Mark Pierson⁸, Ariane Soldatos⁹, Camilo Toro¹, Tom Markello¹, David R Adams¹⁰, William A Gahl¹, Muhammad Yousef¹¹, Cynthia J Tifft¹²

Affiliations

¹ National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America.
² National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; University of North Carolina School of Medicine, Chapel Hill, NC, United States of America.
³ Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, United States of America; Department of Pathology, Immunology, and Microbiology, Vanderbilt University, Nashville, TN, United States of America.
⁴ National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Hummingbird House Children's Hospice, 60 Curwen Terrace, Chermside, Queensland 4032, Australia.
⁵ National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, United States of America.
⁶ NIH, Bethesda, MD, United States of America.
⁷ National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Division of Neurology 2, Office of Neuroscience, Center for Drug Evaluation and Research, US Food and Drug Administration, Silver Spring, MD, United States of America.
⁸ National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Departments of Pediatrics and Neurology & The Board of Governors, Regenerative Medicine Institute and the Cedars Sinai Center for the Undiagnosed Patient, Cedars Sinai Medical Center, Los Angeles, CA, United States of America.
⁹ National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, United States of America.
¹⁰ National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; National Human Genome Research Institute, NIH, Bethesda, MD, United States of America.
¹¹ National Institutes of Health Clinical Center, Department of Perioperative Medicine, Pediatric Anesthesiology, Bethesda, MD, United States of America.
¹² National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; National Human Genome Research Institute, NIH, Bethesda, MD, United States of America. Electronic address: cynthiat@mail.nih.gov.

PMID: 37883914
DOI: 10.1016/j.ymgme.2023.107707

Free article

Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program

Ellen F Macnamara et al. Mol Genet Metab. 2023 Nov.

Free article

. 2023 Nov;140(3):107707.

doi: 10.1016/j.ymgme.2023.107707. Epub 2023 Oct 10.

Authors

Affiliations

¹ National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America.
² National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; University of North Carolina School of Medicine, Chapel Hill, NC, United States of America.
³ Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, United States of America; Department of Pathology, Immunology, and Microbiology, Vanderbilt University, Nashville, TN, United States of America.
⁴ National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Hummingbird House Children's Hospice, 60 Curwen Terrace, Chermside, Queensland 4032, Australia.
⁵ National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, United States of America.
⁶ NIH, Bethesda, MD, United States of America.
⁷ National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Division of Neurology 2, Office of Neuroscience, Center for Drug Evaluation and Research, US Food and Drug Administration, Silver Spring, MD, United States of America.
⁸ National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Departments of Pediatrics and Neurology & The Board of Governors, Regenerative Medicine Institute and the Cedars Sinai Center for the Undiagnosed Patient, Cedars Sinai Medical Center, Los Angeles, CA, United States of America.
⁹ National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, United States of America.
¹⁰ National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; National Human Genome Research Institute, NIH, Bethesda, MD, United States of America.
¹¹ National Institutes of Health Clinical Center, Department of Perioperative Medicine, Pediatric Anesthesiology, Bethesda, MD, United States of America.
¹² National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; National Human Genome Research Institute, NIH, Bethesda, MD, United States of America. Electronic address: cynthiat@mail.nih.gov.

PMID: 37883914
DOI: 10.1016/j.ymgme.2023.107707

Abstract

Purpose: The NIH Undiagnosed Diseases Program (UDP) aims to provide diagnoses to patients who have previously received exhaustive evaluations yet remain undiagnosed. Patients undergo procedural anesthesia for deep phenotyping for analysis with genomic testing.

Methods: A retrospective chart review was performed to determine the safety and benefit of procedural anesthesia in pediatric patients in the UDP. Adverse perioperative events were classified as anesthesia-related complications or peri-procedural complications. The contribution of procedures performed under anesthesia to arriving at a diagnosis was also determined.

Results: From 2008 to 2020, 249 pediatric patients in the UDP underwent anesthesia for diagnostic procedures. The majority had a severe systemic disease (American Society for Anesthesiology status III, 79%) and/or a neurologic condition (91%). Perioperative events occurred in 45 patients; six of these were attributed to anesthesia. All patients recovered fully without sequelae. Nearly half of the 249 patients (49%) received a diagnosis, and almost all these diagnoses (88%) took advantage of information gleaned from procedures performed under anesthesia.

Conclusions: The benefits of anesthesia involving multiple diagnostic procedures in a well-coordinated, multidisciplinary, research setting, such as in the pediatric UDP, outweigh the risks.

Keywords: Anesthesia complications; Rare disease; Undiagnosed diseases.

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Conflict of interest statement

Declaration of Competing Interest The authors declare no conflict of interest.

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Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program

Affiliations

Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program

Authors

Affiliations

Abstract

Conflict of interest statement

Publication types

MeSH terms

Substances

LinkOut - more resources

Full Text Sources

Medical