[Evaluation of a Self-Help Supported Counseling Concept for Children and Adolescents with Disproportional Short Stature]. / Evaluation eines selbsthilfegestützten psychosozialen Interventionsangebotes für Kinder und Jugendliche mit disproportionalem Kleinwuchs.

BACKGROUND: Disproportionate short stature may impair the quality of life (QoL) of patients and their families. This study aimed to evaluate a self-help supported counseling concept to increase the QoL of the participants. METHODS: QoL data from 58 children/adolescents (8-17 years) with a diagnosis of achondroplasia was collected at 2 measurement points during one year using the the QoLISSY questionnaire (self-/parental report). Differences before and after participation vs. non-participation in the intervention were evaluated using a linear mixed model. RESULTS: The longitudinal results show a greater increase of QoL in the active intervention group compared to a passive control group (p=0,005). The increase in the self-reported QoL of affected patients was significantly higher than for the parent-report (p=0,048). CONCLUSIONS: The study shows that patients with achondroplasia benefit from a self-help supported counseling concept. However, this should be tested in a randomized trial.

[Quality of life in children, adolescents, and young adults with achondroplasia]. / Lebensqualität bei Kindern, Jugendlichen und jungen Erwachsenen mit Achondroplasie.

BACKGROUND: Compared to research on short-statured adults, quality of life (QoL) of children has been rarely studied. One reason for this might be the lack of appropriate disease-specific questionnaires. THE AIM OF THE WORK: The aim of this study was to analyse the quality of life in a sample of short-statured children with achondroplasia, using generic and disease-specific instruments. In addition, a comparison of patient and population norms is presented. MATERIALS AND METHODS: The sample included children (8-28 years) with achondroplasia and parents of participating children (8-17 years). Quality of life was analyzed with the KIDSCREEN, the DISABKIDS and the disease-specific Quality of Life in Short Stature Youth (QoLISSY) questionnaire. In addition group differences according to clinical and sociodemographic data were analyzed within the sample and compared to available KIDSCREEN representative population data. RESULTS: The physical QoL was rated poorly in this sample of short-statured patients, while the emotional QoL was rated more favorably. Compared to the KIDSCREEN population norm, parents of children with achondroplasia rate the QoL lower. DISCUSSION: The QoLISSY questionnaire is a reliable tool to assess the subjective wellbeing of patients with skeletal dysplasia. The instrument can now be used clinically as a screening for patient wellbeing, as an outcome criterion in clinical research and as a psychosocial indicator in orthopedic cohort studies.

[Quality of life of young adults after a growth hormone therapy with childhood onset]. / Die Lebensqualität junger Erwachsener nach einer Wachstumshormonbehandlung im Kindesalter.

INTRODUCTION: Little is known about the health-related quality of life of young adults with childhood onset idiopathic growth hormone deficiency or neurosecretory dysfunction of growth hormone secretion, who have been treated with recombinant human growth hormone (GH). METHODS: Patients were diagnosed and treated with human growth hormone at the University Children´s Hospital in Erlangen (n=85). The data of both groups were merged for analysis, because no difference between idiopathic growth hormone deficiency and neurosecretory dysfunction of growth hormone secretion in auxological. Data were found. Health-related quality of life was cross- sectionally assessed after the end of growth hormone therapy with the Short Form-36 Health Survey and the Nottingham Health Profiles for which population based norm data are available. RESULTS: At the time of the survey, the patients (53 m, 32 f) were 23.5 ±â€…4.6 years old. At start of GH therapy, age was 10.5 ±â€…2.8 and at the end 16.3 ±â€…1,4 years. At start, height SDS was -3.20 ±â€…1.06. GH dose was 0,026 ±â€…0,012 mg/kg/d (daily s. c.-injections). The increase in height SDS after the end of GH therapy was 1.69 ±â€…1.22.  Compared to the reference population, patients reported significantly lower scores on the scales energy level, vitality, social functioning, indicating a greater social isolation, a stronger emotional reaction, an increased loss of mobility and a worse psychological state. CONCLUSION: Young adults report specific impairments after completion of GH therapy.

Validation of the Flemish version of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire.

OBJECTIVES: The Quality of Life in Short Stature Youth (QoLISSY) questionnaire was recently developed in five European countries to assess health-related quality of life in children and adolescents with idiopathic short stature or growth hormone deficiency from child and parent perspectives. In addition to the existing French version, a Flemish version is needed for use of QoLISSY in the Flemish speaking part of Belgium. METHODS: Children (8-18 years) and their parents recruited from two Belgian paediatric endocrinology clinics completed the QoLISSY in a cross-sectional study. Cronbach's Alpha and test-retest reliability was assessed. Validity was examined by correlation with the generic KIDSCREEN questionnaire as well as by group comparisons according to diagnostic and treatment status. RESULTS: The QoLISSY scales had an acceptable internal consistency with Cronbach's Alpha ranging from 0·80 to 0·94 (child version) and from 0·77 to 0·92 (parent version). Test-retest reliability correlation coefficients ranged from r = 0·75 to 0·89 in the child version and from r = 0·58 to 0·85 in the parent version. Moderate correlations with the generic KIDSCREEN questionnaire suggested construct validity. Differences between child groups according to child age, underlying diagnosis, and degree of height deficit were found. Correlations with the European QoLISSY were significant for all scales. DISCUSSION: The Flemish QoLISSY instrument is a psychometrically sound, reliable, and valid short stature specific questionnaire measuring health-related quality of life. It is expected to be of great use in upcoming clinical research on growth disorders and growth hormone treatment in Belgium and Europe.