Living with Pompe disease in the UK: Characterizing the patient journey and burden on physical, emotional and social quality of life

Hughes, Derralynn; Odedra, Kayuri; Bashorum, Lisa; Muir, Allan; Lewthwaite, J.; Johnson, Neil; McCaughey, Gerard; Slade, Peter; Patel, Nita

doi:10.1016/j.ymgme.2021.11.145

Cited by 2 publications

(1 citation statement)

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“…74 The knowledge of the diagnosis, particularly in individuals without symptoms or functional impairment, may trigger psychological issues that impact their quality of life (QoL), such as anxiety or depression. [75][76][77] Patients and families may bene t from psychosocial support to cope with the emotional and psychological distress associated with this chronic and progressive condition. 78,79 As observed in this scoping review, there is a limited focus on the QoL of LOPD patients, in which only one paper mentioned the use of INQoL as a patient-reported outcome measure.…”

Section: Follow-upmentioning

confidence: 99%

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review

Rivera,

Campos,

Alegre

et al. 2024

Preprint

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Background Pompe Disease (PD) is a rare progressive autosomal recessive disorder resulting from deficient acid alpha-glucosidase (GAA) enzyme activity, necessitating timely identification and management. This scoping review aimed to synthesize the evidence regarding assessment methods for screening, diagnosing, and following up PD. Methods and Results We searched citations in English and Spanish published from 2017 until February 8, 2022, across 11 databases. We included primary studies, reviews, and guidelines that described at least one assessment method for patients with confirmed clinical, genetic, or biochemical PD. Screening and data extraction adhered to PRISMA-ScR. Data was summarized narratively and with descriptive statistics. After screening 2,139 citations, 96 met the eligibility criteria. Cross-sectional studies were the most prevalent design (28%), while guidelines were the least frequent (1%). Newborn screening availability varied among countries, despite its potential to improve PD prevalence estimations. Overall, 81 articles assessed clinical manifestations, with 47 focusing on late-onset PD. We identified considerable heterogeneity in reporting PD phenotypes. The use of dried blood spots for GAA enzyme deficiency detection was described in 18 articles, but reporting lacked standardization. Next-generation sequencing emerged as the gold standard for identifying mutated alleles. Monitoring strategies for pediatric and adult PD lacked consensus, and only one article assessed quality of life. Conclusion This scoping review summarized the evidence to comprehensively evaluate PD patients, emphasizing current practices and existing challenges that must be tackled to optimize screening, diagnosis, and follow-up of PD.

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