Publications by authors named "Nina A Zeltner"

5 Publications

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

Orphanet J Rare Dis 2019 11 8;14(1):248. Epub 2019 Nov 8.

Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.

Background: Inborn 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.

Methods: We 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.

Results: Knowledge-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.

Conclusion: The 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.
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http://dx.doi.org/10.1186/s13023-019-1236-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6842257PMC
November 2019

Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study.

JIMD Rep 2019 25;43:1-6. Epub 2018 Feb 25.

Division of Metabolism, and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.

Dietary phenylalanine restriction in phenylketonuria (PKU) patients is usually mandatory in order to prevent cognitive impairment. The influence of a low-protein diet on growth has raised concerns in families and caregivers. This paper aims to investigate the growth in PKU patients treated with a low-protein diet including supplementation of amino acids and other nutrients according to standard protocols.We performed a single-center, cross-sectional study on growth in pediatric PKU patients (n = 51) treated with low-protein diet over a 20-month period. Height of healthy siblings (n = 44) and target height, calculated based on parents' height, served as controls.No statistically significant differences were found comparing mean height z-scores between patients and siblings (p = 0.261). Patients <12 years showed a reduction in mean height z-scores compared to the target height (p = 0.020), whereas postpubertal patients ≥12 years did not differ significantly in height z-scores compared to the target height (p = 0.071). Healthy siblings' height did not differ from target height in neither age group (p = 0.100/p = 0.301).Our results suggest that PKU patients treated with low-protein diet can achieve normal growth with patients making up the leeway after puberty. While prepubertal patients were shorter than expected based on their target height, older patients were within their expected target height. This study indicates that current practice of low-protein diet in PKU patients allows normal growth.
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http://dx.doi.org/10.1007/8904_2018_92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323026PMC
February 2018

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

JIMD Rep 2017 1;37:27-35. Epub 2017 Mar 1.

Division of Metabolism, Children's Research Center, University Children's Hospital, Zurich, Switzerland.

Introduction: This study is part of the "European network and registry for intoxication type metabolic diseases" (E-IMD) project. Intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD) and organic acidurias (OA) have a major impact on patients' lives. Patients have to adhere to strict diet and medication and may suffer from metabolic crises and neurocognitive impairment. Disease-specific health-related quality of life (HrQoL) assessment questionnaires are the method of choice to estimate the subjective burden of a disease. To date, no such instrument is available for IT-IEM.

Methods: Disease-specific patient- and parent-reported HrQoL questions were constructed in German based on focus group interviews with patients and parents. Questionnaires for patients from 8 to 18 years were piloted with 14 participants (n = 9 children and adolescents, n = 5 parents) by cognitive debriefing and tested psychometrically with 80 participants (n = 38 patients, n = 42 parents) for item characteristics, validity, and reliability to construct the first version of a disease-specific HrQoL questionnaire.

Results: Twenty-eight questions were selected based on item descriptives. Scales of self- and proxy questionnaires demonstrated acceptable to excellent reliability in terms of internal consistency (Cronbach's α = 0.70-0.93). Scales and total scores correlated with those of generic HrQoL questionnaires, showing convergent validity.

Discussion: The MetabQoL 1.0 questionnaire exhibits sound psychometric properties and is a promising step towards assessing patient-reported outcomes in research and clinical practice. It provides a solid basis for translation into other languages and further elaboration and psychometric exploration in larger populations.
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http://dx.doi.org/10.1007/8904_2017_11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740049PMC
March 2017

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents.

JIMD Rep 2017 13;31:1-9. Epub 2016 Aug 13.

Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

Introduction: Progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders, organic acidurias or maple syrup urine disease is resulting in a growing number of long-term survivors. Consequently, health-related quality of life (HrQoL) of patients is increasingly regarded as a meaningful outcome parameter. To develop the first validated, disease-specific HrQoL questionnaire for IT-IEM, patients and parents were interviewed as content experts to identify major physical and psychosocial constraints and resources.

Methods: Focus group interviews with 19 paediatric IT-IEM patients and 26 parents were conducted in four metabolic centres in Austria, Germany and Switzerland. Disease-specific HrQoL categories were established by qualitative content analysis.

Results: Fourteen disease-specific topics related to the three well-established generic HrQoL dimensions of physical, mental and social functioning were derived from the interview transcripts. Both patients and parents perceived dietary restrictions and social stigmatisation as major burdens. Dietary restrictions and emotional burdens were more important for young (<8 years) patients, whereas cognition, fatigue and social issues were more relevant to older patients (≥8 years). Treatment-related topics had a significant effect on social and emotional HrQoL.

Discussion: By exploring patients' and parents' perspectives, 14 HrQoL categories were identified. These new categories will allow the development of a disease-specific, standardised questionnaire to assess HrQoL in paediatric IT-IEM patients. Age-appropriate information on the disease and psychosocial support targeted to patients' individual burdens are essential to the delivery of personalised care that takes account of physical, mental and social dimensions of HrQoL.
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http://dx.doi.org/10.1007/8904_2016_545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388637PMC
August 2016

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.

Orphanet J Rare Dis 2014 Oct 25;9:159. Epub 2014 Oct 25.

Department of Psychosomatics and Psychiatry, Children's Research Center and University Children's Hospital Zurich, Zurich, Switzerland.

Background: In recent decades, considerable progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD), organic acidurias (OA), maple syrup urine disease (MSUD), or tyrosinemia type 1 (TYR 1) has resulted in a growing group of long-term survivors. However, IT-IEM still require intense patient and caregiver effort in terms of strict dietetic and pharmacological treatment, and the threat of metabolic crises is always present. Furthermore, crises can affect the central nervous system (CNS), leading to cognitive, behavioural and psychiatric sequelae. Consequently, the well-being of the patients warrants consideration from both a medical and a psychosocial viewpoint by assessing health-related quality of life (HrQoL), psychological adjustment, and adaptive functioning. To date, an overview of findings on these topics for IT-IEM is lacking. We therefore aimed to systematically review the research on HrQoL, psychological adjustment, and adaptive functioning in patients with IT-IEM.

Methods: Relevant databases were searched with predefined keywords. Study selection was conducted in two steps based on predefined criteria. Two independent reviewers completed the selection and data extraction.

Results: Eleven articles met the inclusion criteria. Studies were of varying methodological quality and used different assessment measures. Findings on HrQoL were inconsistent, with some showing lower and others showing higher or equal HrQoL for IT-IEM patients compared to norms. Findings on psychological adjustment and adaptive functioning were more consistent, showing mostly either no difference or worse adjustment of IT-IEM patients compared to norms. Single medical risk factors for HrQoL, psychological adjustment, or adaptive functioning have been addressed, while psychosocial risk factors have not been addressed.

Conclusion: Data on HrQoL, psychological adjustment, and adaptive functioning for IT-IEM are sparse. Studies are inconsistent in their methodological approaches, assessment instruments and norm populations. A disease-specific standard assessment procedure for HrQoL is not available. Psychosocial risk factors for HrQoL, psychological adjustment, or adaptive functioning have not been investigated. Considering psychosocial variables and their corresponding risk factors for IT-IEM would allow evaluation of outcomes and treatments as well as the planning of effective social and psychological interventions to enhance the patients' HrQoL.
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http://dx.doi.org/10.1186/s13023-014-0159-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4219016PMC
October 2014