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October 2020; 10 (5) Research

Novel and known morbidities of leukodystrophies identified using a phenome-wide association study

Joshua L. Bonkowsky, Jacob Wilkes, Jian Ying, View ORCID ProfileWei-Qi Wei
First published December 6, 2019, DOI: https://doi.org/10.1212/CPJ.0000000000000783
Joshua L. Bonkowsky
Division of Pediatric Neurology (JLB), Department of Pediatrics, University of Utah School of Medicine; Brain and Spine Center (JLB), Primary Children's Hospital, Intermountain Healthcare, Salt Lake City; Intermountain Healthcare (JW), Salt Lake City; Department of Internal Medicine (JY), University of Utah School of Medicine, Salt Lake City; and Department of Biomedical Informatics (W-QW), Vanderbilt University Medical Center, Nashville, TN.
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Jacob Wilkes
Division of Pediatric Neurology (JLB), Department of Pediatrics, University of Utah School of Medicine; Brain and Spine Center (JLB), Primary Children's Hospital, Intermountain Healthcare, Salt Lake City; Intermountain Healthcare (JW), Salt Lake City; Department of Internal Medicine (JY), University of Utah School of Medicine, Salt Lake City; and Department of Biomedical Informatics (W-QW), Vanderbilt University Medical Center, Nashville, TN.
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Jian Ying
Division of Pediatric Neurology (JLB), Department of Pediatrics, University of Utah School of Medicine; Brain and Spine Center (JLB), Primary Children's Hospital, Intermountain Healthcare, Salt Lake City; Intermountain Healthcare (JW), Salt Lake City; Department of Internal Medicine (JY), University of Utah School of Medicine, Salt Lake City; and Department of Biomedical Informatics (W-QW), Vanderbilt University Medical Center, Nashville, TN.
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Wei-Qi Wei
Division of Pediatric Neurology (JLB), Department of Pediatrics, University of Utah School of Medicine; Brain and Spine Center (JLB), Primary Children's Hospital, Intermountain Healthcare, Salt Lake City; Intermountain Healthcare (JW), Salt Lake City; Department of Internal Medicine (JY), University of Utah School of Medicine, Salt Lake City; and Department of Biomedical Informatics (W-QW), Vanderbilt University Medical Center, Nashville, TN.
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Novel and known morbidities of leukodystrophies identified using a phenome-wide association study
Joshua L. Bonkowsky, Jacob Wilkes, Jian Ying, Wei-Qi Wei
Neurol Clin Pract Oct 2020, 10 (5) 406-414; DOI: 10.1212/CPJ.0000000000000783

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Abstract

Objective To determine shared comorbidities and to identify underrecognized or unexpected morbidities in children with leukodystrophies using an unbiased phenome-wide association study (PheWAS) analysis of a nationwide pediatric clinical and financial database.

Methods Data were extracted from the Pediatric Health Information System database. Patients with leukodystrophy were identified with International Classification of Diseases, 10th revision, clinical modification, diagnostic codes for any of 4 specific leukodystrophies (X-linked adrenoleukodystrophy (E71.52x), Hurler disease (E76.01), Krabbe disease (E75.23), and metachromatic leukodystrophy (E75.25)) over a 3-year time period. Confirmed leukodystrophy cases (n = 553) were matched with 1659 controls. A PheWAS analysis was performed on all available ICD diagnostic codes for cases and controls. Comparisons were performed for all 4 leukodystrophies as a group and individually.

Results We found 174 phecodes (grouped ICD codes) associated with leukodystrophies, including 28 codes with a rate difference (RD) > 20%. Known comorbidities of leukodystrophies including developmental delay, epilepsy, and adrenal insufficiency were identified. Unexpected associations identified included hypertension (RD 30%, OR 25), hearing loss (RD 28%, OR 15), and cardiac dysrhythmias (RD 27%, OR 9). Hurler disease had a greater number of unique disease conditions.

Conclusions PheWAS analysis from a national database demonstrates shared and unique features of leukodystrophies. Developmental delay, cardiac dysrhythmias, fluid and electrolyte disturbances, and respiratory issues were common to all 4 leukodystrophy diseases. Use of a PheWAS in leukodystrophies and other pediatric neurologic diseases offers a method for targeting improved care for patients by identification of morbidities.

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  • Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.

  • Editorial, page 375

  • Received June 11, 2019.
  • Accepted September 23, 2019.
  • © 2019 American Academy of Neurology
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