Explaining juvenile idiopathic arthritis to paediatric patients using illustrations and easy-to-read texts: improvement of disease knowledge and adherence to treatment

INTRODUCTION Juvenile idiopathic arthritis (JIA) is the leading chronic rheumatic disease in childhood. To achieve adherence to therapy, in-depth understanding of disease and treatment options are important. OBJECTIVE Development of specifically designed illustrations and standardised, easy-to-read texts for children and adolescents with JIA. Education materials were tested for comprehensibility and content validity. We hypothesised that children would be able to increase their knowledge about JIA after presentation of materials. METHODS The illustrations were designed by a graphic artist and the informative texts consecutively transformed to easy-to-read language. The materials appear as a modular system to allow individualized information for each patient. The illustrations and texts were tested for knowledge gain and improvement of self-efficacy in children affected by JIA/ rheumatic diseases and controls. Health-related quality of life (HRQoL) was tested as an overall assessment of patients' well-being. RESULTS 46 controls (71% female) and 38 patients (48% female) with a median age of 11 years were tested in a standardised setting. In both groups knowledge gain was significant (controls: t (44) = 11.08, p < 0.001, d = 1.65; patients: t (37) = 7.48, p < 0.001, d = 1.21). The control group had a significantly higher enhancement of disease knowledge compared to patients' group (p = .046) The follow-up testing was only performed in one school class (20 controls) due to Covid-19 pandemic with significant improvement compared to the pre-test results (p = .002). The enhancement of self-efficacy through the teaching session was significantly higher in the patients' group. No impairment of HRQoL was seen. CONCLUSION Explaining juvenile rheumatic diseases and therapeutic strategies is an important task in paediatric rheumatology. To avoid incomprehensible explanations in medical jargon, illustrations and easy-to-read texts were developed. Standardised presentation of the newly created materials resulted in a significant improvement of disease knowledge in patients and controls in addition to an enhancement of self-efficacy in patients

Normal growth in PKU patients under low-protein diet in a single-center cross-sectional study

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

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

BackgroundIn 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.MethodsRelevant 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.ResultsEleven 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.ConclusionData 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

Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus

BACKGROUND: Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria (PKU) and their treatment have a major impact on the life of affected children and families. Yet patients' and parents' perspectives on the burdens of IT-IEM and its effects on everyday functioning and well-being have rarely been addressed. Patient- and observer-reported outcomes (PROs/ObsROs) are critically important to evaluate and target health care and treatment efficacy. Therefore, it is mandatory to define PROs/ObsROs relevant to patients with IT-IEM, their families, and health care professionals and to provide valid, standardised and reliable measuring instruments. To achieve consensus we performed a two-round, electronic-based modification of a Delphi survey including 27 parents of affected children, nine teenage patients and 35 health professionals (physicians, nutritionists, psychologists). The final set of PROs/ObsROs was discussed and defined in an online consensus meeting with a subsample of three health professionals, three parents and two patients. For this final set, appropriate measures (PROMs/ObsROMs) were assembled. RESULTS: Seventeen PROs/ObsROs constitute the final core set for paediatric IT-IEM. They cover social (e.g. social participation), emotional (e.g. positive affect), and disease-related aspects (e.g. attitude towards treatment) of patients' lives as well as the experience of parents (e.g. parental stress). CONCLUSION: To promote a holistic treatment approach, this consensus-driven set of relevant PROs/ObsROs should be incorporated into daily IT-IEM care and considered as the key psychological outcomes in clinical trials. We have identified existing-psychometrically and contextual-appropriate PROMs/ObsROMs with open access to facilitate this process

Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set

Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria have a major impact on paediatric patients' life. Patients have to adhere to a strict diet but may face neurocognitive impairment and - in acute diseases - metabolic decompensations nevertheless. Research on the subjective burden of IT-IEM remains sparse. Studies with appropriate sample sizes are needed to make valid statements about health-related quality of life (HrQoL) in children and adolescents with IT-IEM. Six international metabolic centres contributed self-reports and proxy reports of HrQoL (assessed with the Paediatric Quality of Life Inventory) to the final data set (n = 251 patients; age range 2.3-18.8 years). To compare HrQoL of the patient sample with norm data and between acute and non-acute IT-IEM, t tests were conducted. To examine the influence of child age, sex, diagnosis and current dietary treatment on HrQoL, multiple linear regression analyses were conducted. Self-reports and proxy reporst showed significantly lower HrQoL total scores for children with IT-IEM compared to healthy children. Current dietary treatment significantly predicted lower proxy reported total HrQoL. Children with non-acute IT-IEM reported significantly lower psychosocial health and emotional functioning than children with acute IT-IEM. The patient sample showed significantly impaired HrQoL and a diet regimen remains a risk factor for lower HrQoL. Differences in HrQoL between acute and non-acute IT-IEM subgroups indicate that factors beyond symptom severity determine the perception of disease burden. Identifying these factors is of crucial importance to develop and implement appropriate interventions for those in need

Living with intoxication-type inborn errors of metabolism: a qualitative analysis of interviews with paediatric patients and their parents

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

Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey

Objectives: The MetabQoL 1.0 is the first disease-specific health related quality of life (HrQoL) questionnaire for patients with intoxication-type inherited metabolic disorders. Our aim was to assess the validity and reliability of the MetabQoL 1.0, and to investigate neuropsychiatric burden in our patient population. Methods: Data from 29 patients followed at a single center, aged between 8 and 18 years with the diagnosis of methylmalonic acidemia (MMA), propionic acidemia (PA) or isovaleric acidemia (IVA), and their parents were included. The Pediatric Quality of Life Inventory (PedsQoL) was used to evaluate the validity and reliability of MetabQoL 1.0. Results: The MetabQoL 1.0 was shown to be valid and reliable (Cronbach's alpha: 0.64–0.9). Fourteen out of the 22 patients (63.6%) formally evaluated had neurological findings. Of note, 17 out of 20 patients (85%) had a psychiatric disorder when evaluated formally by a child and adolescent psychiatrist. The median mental scores of the MetabQoL 1.0 proxy report were significantly higher than those of the self report (p = 0.023). Patients with neonatal-onset disease had higher MetabQoL 1.0 proxy physical (p = 0.008), mental (p = 0.042), total scores (p = 0.022); and self report social (p = 0.007) and total scores (p = 0.043) than those with later onset disease. Conclusions: This study continues to prove that the MetabQoL 1.0 is an effective tool to measure what matters in intoxication-type inherited metabolic disorders. Our results highlight the importance of clinical assessment complemented by patient reported outcomes which further expands the evaluation toolbox of inherited metabolic diseases

Development and psychometric evaluation of the MetabQoL 1.0: a quality of life questionnaire for paediatric patients with intoxication-type inborn errors of metabolism

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