Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

Zeltner, Nina A.; Baumgartner, Matthias R.; Бондаренко, А. Н.; Ensenauer, Regina; Kölker, Stefan; Mühlhausen, Chris; Scholl‐Bürgi, Sabine; Thimm, Eva; Quitmann, Julia; Burgard, Peter; Landolt, Markus A.; Huemer, Martina

doi:10.1007/8904_2017_11

Cited by 16 publications

(30 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Therefore, the treatment guidelines recommend against a protein‐restricted diet in remethylation disorders . Protein‐reduced diets are known to be burdensome for patients and families and did not lead to any improvement in tHcy or clinical outcome parameters in this study.…”

Section: Discussionmentioning

confidence: 72%

“…To get more precise insight into the extent and pattern of cognitive impairment and to establish outcome parameters for new treatment approaches, regular, reliable testing using standardised, age‐appropriate instruments would be of great value. The same is true for health‐related quality of life as well as the burden of disease and treatment, which are the most meaningful outcome parameters for patient care and research …”

Section: Discussionmentioning

confidence: 95%

See 1 more Smart Citation

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Huemer¹,

Diodato²,

Martinelli³

et al. 2019

J of Inher Metab Disea

Self Cite

View full text Add to dashboard Cite

Aim To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E‐HOD) international web‐based registry. Results This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E‐HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy‐five percent of pre‐clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15 days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid (MMA) were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities. Conclusion Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry‐based design.

show abstract

Section: Discussionmentioning

confidence: 72%

Section: Discussionmentioning

confidence: 95%

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Huemer¹,

Diodato²,

Martinelli³

et al. 2019

J of Inher Metab Disea

Self Cite

View full text Add to dashboard Cite

show abstract

“…Patient-reported outcomes (PROs) are assessed through validated questionnaires, which can evaluate quality of life (QoL) (Erhart et al 2009;D'Ambrosi et al 2017;Zeltner et al 2016), symptoms (Malcolm et al 2012;Neijenhuis et al 2016), treatment and care satisfaction/effectiveness (D'Ambrosi et al 2017) and even compliance to medication (Geissler et al 2017). PROs are used clinically, as secondary endpoints in clinical trials and as tools employed in natural history studies and patient registries (Coons et al 2009;Paulsen et al 2010).…”

Section: Quality Of Life In Congenital Disorders Of Glycosylationmentioning

confidence: 99%

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study

Marques‐da‐Silva

Francisco

Ferreira³

et al. 2018

JIMD Reports

View full text Add to dashboard Cite

Congenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great phenotypic diversity ranging from mono- to multi-organ/multisystem involvement. Liver involvement, mostly nonprogressive, is often reported in CDG patients. The main objectives of this work were (1) to better understand liver involvement in CDG patients through a liver electronic questionnaire targeting CDG families (LeQCDG) and (2) to compare responses from LeQCDG participants with literature review regarding the prevalence of liver disease and the occurrence of liver symptoms in CDG patients. The network of patient advocacy groups, families and professionals (CDG & Allies - PPAIN) developed the LeQCDG by adapting validated published questionnaires. The LeQCDG was approved by an ethics committee, and the recruitment of patients and caregivers proceeded through social media platforms. Participants were asked to report past or present liver-related symptoms (e.g. hepatomegaly, liver fibrosis and cirrhosis) and laboratory results (e.g. biochemical and/or radiological). From 11 December 2016 to 22 January 2017, 155 questionnaires were completed. Liver disease was present in 29.9% of CDG patients. Main symptoms reported included hepatomegaly, increased levels of serum transaminases, fibrosis, steatosis and cirrhosis. The data obtained in this online survey confirm findings from a recent literature review of 25 years of published evidence (r = 0.927, P = 0.02). Our questionnaire collected large amounts of meaningful, clinical and patient-oriented data in a short period of time without geographic limitations. Internet-based approaches are especially relevant in the context of ultra-rare diseases such as CDG.

show abstract

“…Recently, questionnaires specifically assessing health-related quality of life (HrQoL) of patients with phenylketonuria [1] and intoxication type disorders [2] have been developed. Interviews and focus groups with patients and parents are integral parts of the construction process of HrQoL instruments and allow insight into patients’ and parents’ perspectives.…”

Section: Introductionmentioning

confidence: 99%

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

Zeltner

Welsink‐Karssies

Landolt

et al. 2019

Orphanet J Rare Dis

Self Cite

View full text Add to dashboard Cite

BackgroundInborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the central nervous system and other organs. Some carry the risk of progression and / or potentially life-threatening crises. Many patients have to adhere to lifelong dietary or drug treatment.The complexity of IEM makes it difficult for patients and caregivers to understand their pathophysiology, inheritance and therapy rationale. Especially patients reaching adolescence may have only limited knowledge of their condition since medical care has often entirely been handled by their parents. Knowledge about disease and treatment, however, constitute pillars of self-responsible disease management. Not many standardized patient education materials on IEM are available and their comprehensibility has not been systematically investigated.MethodsWe developed and tested patient education materials for school-aged children and adolescents with IEM. Informative texts and illustrations in paper form and as videos were developed by an international network of metabolic care professionals together with a graphic artist and experts for easy-to-read language. The materials were presented in standardized single or group training sessions to 111 individuals; first, to 74 healthy children and adolescents (recruited via public schools) and consecutively to 37 paediatric patients with IEM (phenylketonuria, galactosemia, urea cycle defects, lysosomal storage disorders) from six metabolic centres. Knowledge-gain was assessed by pre- and post-testing.ResultsKnowledge-gain was significant in healthy children and adolescents as well as in patients (p < .001, r =. -77 /. -70). Effect sizes were large in both groups (r = -.77 / -.70). This result was independent from family language and teacher-rated concentration or cognitive capacity in healthy children.ConclusionThe newly developed patient education materials are a powerful tool to improve disease- and treatment-related knowledge. They facilitate communication between the medical team and children and adolescents with IEM and their caregivers.

show abstract

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

Cited by 16 publications

References 29 publications

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

Contact Info

Product

Resources

About