Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration.

ABSTRACT:

Background

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA).

Objectives

To assess PKAN diagnostic pathway, history, and burden across the spectrum of PKAN severity from patient and/or caregiver perspectives.

Methods

Caregivers of patients (n = 37) and patients themselves (n = 2) were interviewed in a validation study of the PKAN-Activities of Daily Living (ADL) scale. The current study used quartiles of the PKAN-ADL total score to divide patients by severity of impairment (Lowest, Second Lowest, Third Lowest, Highest). Diagnostic and treatment history, healthcare utilization, disease burden, and caregiver experience were compared between groups.

Results

The analyses

SUBMITTER: Marshall RD 

PROVIDER: S-EPMC6625120 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature