Living Situation, Occupation and Health-related Quality of Life in Adult Patients with Classic Galactosemia

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2012 Mar 27

PMID 22447152

Citations 13

Authors

Bjorn Hoffmann

Nico Dragano

Susanne Schweitzer-Krantz

Affiliations

Soon will be listed here.

Abstract

Background: Galactose-1-phosphate uridyltransferase deficiency is well known as the underlying defect in classic galactosemia. However, little is known about the consequences of this defect beyond physical disease.

Aim: To evaluate psychosocial, educational and occupational outcome as well as health-related quality of life (HRQOL) in adult German patients with galactosemia and to compare information with data from patients with phenylketonuria as well as the general German population.

Methods: Members of the German patient support group for galactosemia received invitation, informed consent form and questionnaires by regular mail from the patient support group. Participation was voluntary.

Results: Forty-one out of 66 invited patients participated in this study. Nearly 2/3 of the patients were singles, and the majority of patients were still living with their parents. Frequently, patients had no school leaving certificate, and 30% of the patients had never started or never completed an apprenticeship. Getting along with galactosemia was rated as 'very good' or 'good' although following the diet was a burden. Social well-being and social functioning was lower compared to patients with PKU.

Discussion: Patients with galactosemia need a multi-professional team not only focusing on physical and/or biochemical aspects of disease but including also psycho-social dimensions of life.

Citing Articles

Social cognition, psychosocial development and well-being in galactosemia.

Bry C, Propice K, Bourgin J, Metral M Orphanet J Rare Dis. 2024; 19(1):325.

PMID: 39243040 PMC: 11378408. DOI: 10.1186/s13023-024-03335-2.

Understanding the patient experience of Classic Galactosemia in pediatric and adult patients: increased disease burden, challenges with daily living, and how they evolve over time.

Randall J, Sutter C, Raither L, Wang S, Bailey E, Perfetti R J Patient Rep Outcomes. 2023; 7(1):95.

PMID: 37751006 PMC: 10522554. DOI: 10.1186/s41687-023-00635-2.

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

Hermans M, van Oers H, Geurtsen G, Haverman L, Hollak C, Rubio-Gozalbo M Orphanet J Rare Dis. 2023; 18(1):135.

PMID: 37268983 PMC: 10236383. DOI: 10.1186/s13023-023-02749-8.

Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living.

Randall J, Sutter C, Wang S, Bailey E, Raither L, Perfetti R Orphanet J Rare Dis. 2022; 17(1):138.

PMID: 35346295 PMC: 8959560. DOI: 10.1186/s13023-022-02287-9.

Pathophysiology and management of classic galactosemic primary ovarian insufficiency.

Hagen-Lillevik S, Rushing J, Appiah L, Longo N, Andrews A, Lai K Reprod Fertil. 2022; 2(3):R67-R84.

PMID: 35118398 PMC: 8788619. DOI: 10.1530/RAF-21-0014.

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