The challenges of classical galactosemia: HRQoL in pediatric and adult patients.

ABSTRACT:

Background

Classical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cognitive impairment and movement disorders, despite early diagnosis and dietary treatment. Two decades ago, lower motor-, cognitive- and social health related quality of life (HRQoL) was demonstrated in pediatric and adult patients. Since then, the diet has been relaxed, newborn screening was implemented and new international guidelines resulted in major changes in follow-up. The aim of this study was to assess HRQoL of CG by means of online self- and/or proxy-HRQoL-questionnaires focusing on the main areas of concern of CG (i.e. anxiety, depression, cognition, fatigue, social- and upper extremity function) within the patient-reported outcomes measurement i

SUBMITTER: Hermans ME 

PROVIDER: S-EPMC10236383 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature