Leben mit Achondroplasie

Rohenkohl, Anja; Sommer, Rachel; Bestges, Stephanie; Kahrs, Sabine; Klingebiel, Karl-Heinz; Bullinger, Monika; Quitmann, Julia

doi:10.1024/1422-4917/a000385

Cited by 11 publications

(14 citation statements)

References 27 publications

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“…Or does this reflect a more positive attitude about dwarfing conditions directed toward this younger cohort? (Note, however, that Rohenkohl et al [336] and Witt et al [338] seem to have demonstrated improvement of quality of life with increasing age up to adulthood, a finding apparently incompatible with other results summarized).…”

Section: Natural History and Managementmentioning

confidence: 83%

“…Remarkably, they demonstrated unimpaired self-concept and effective coping strategies despite encountering negative experiences related to their small stature. Similarly, Rohenkohl et al found that overall quality of life in children and young adults with achondroplasa was nearly identical to that of normal controls [336]. The contrast with other, primarily adult-based studies is striking.…”

Section: Natural History and Managementmentioning

confidence: 99%

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Achondroplasia: a comprehensive clinical review

Pauli¹

2019

Orphanet J Rare Dis

322

374

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Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain.

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Section: Natural History and Managementmentioning

confidence: 83%

Section: Natural History and Managementmentioning

confidence: 99%

Achondroplasia: a comprehensive clinical review

Pauli¹

2019

Orphanet J Rare Dis

322

374

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“…Psychometric performance of the QoLISSY questionnaire has also been proven to be satisfactory in further cross-sectional validation studies in the US, Italy, Belgium and in the Netherlands [34–37]. At present, QoLISSY has also been validated for use in children being born small for gestational age (SGA) and achondroplasia [38, 39].…”

Section: Methodsmentioning

confidence: 99%

Psychometric properties of the quality of life in short statured youth (QoLISSY) questionnaire within the course of growth hormone treatment

Bloemeke

Silva

Bullinger

et al. 2019

Health Qual Life Outcomes

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BackgroundThe Quality of Life of Short Stature Youth (QoLISSY) questionnaire is a patient- and parent-reported outcome measure assessing health-related quality of life (HRQOL) in short stature youth. This study evaluates the psychometric properties of the QoLISSY questionnaire within a German prospective trial of short statured children treated with human growth hormone (hGH).MethodThe instrument was administered to children with idiopathic growth hormone Deficiency (IGHD) and small for gestational age (SGA) before and after 12 month of hGH treatment. Children with idiopathic short stature (ISS) served as a reference group receiving no treatment. Psychometric testing included scale distribution characteristics, reliability (internal consistency), criterion-and convergent validity (correlations with the generic KIDSCREEN-Index, inter-correlations among QOLISSY subscales), known-group validity (treatment status, height SDS), and responsiveness analysis (ability to detect change).ResultsOne hundred fifty-two parents and 66 children/adolescents completed both HRQOL assessments. The QoLISSY demonstrated good reliability with Cronbach’s alpha > .70. Moderate significant correlations between QoLISSY domains and the KIDSCREEN-10 Index supported criterion validity. Statistically significant differences in HRQOL were observed between treatment groups at baseline with children who were about to start treatment reporting a significantly lower HRQOL compared to the children who will not receive treatment. No significant differences were found between the level of short stature based on height SDS scores (≤ − 2 SDS, > − 2 SDS). Furthermore, the instrument detected significant changes in HRQOL between the treated and the untreated group in patient-reports.ConclusionsIn conclusion, the scales showed satisfactory reliability, adequate validity and ability to detect change in self-reported HRQOL within GH treatment. Findings support QoLISSY’s further use in clinical trials, offering the opportunity to adequately assess HRQOL from the patients’ and caregivers’ perspective to improve patient-centered care.

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“…At the same time, other studies reported no differences in quality of life of chronically ill children, compared to healthy peers [19, 20]. In contrast to children with endocrine short-stature, children with achondroplasia reported significantly lower quality of life [8, 12, 19]. In particular, young patients with achondroplasia showed the lowest quality of life scores in the physical domain, the highest quality of life scores in the emotional domain [6, 8, 10, 12, 21].…”

Section: Introductionmentioning

confidence: 93%

“…Previous studies reported a significantly reduced quality of life of children with chronic health conditions from both the child and parent perspective in comparison with healthy reference populations [17, 18]. At the same time, other studies reported no differences in quality of life of chronically ill children, compared to healthy peers [19, 20]. In contrast to children with endocrine short-stature, children with achondroplasia reported significantly lower quality of life [8, 12, 19].…”

Section: Introductionmentioning

confidence: 99%

Quality of life of children with achondroplasia and their parents - a German cross-sectional study

Witt

Kolb

Bloemeke

et al. 2019

Orphanet J Rare Dis

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Background Achondroplasia is the most common form of disproportionate short stature and might affect not only the quality of life of the affected child but also that of the parents. Objectives We aimed to investigate the quality of life of children with achondroplasia from child- and parent perspective as well as the parental quality of life. Methods Forty-seven children with achondroplasia and 73 parents from a German patient organization participated. We assessed children’s quality of life using the generic Peds QL 4.0™ as self-reports for children aged 8–14 and parent-reports for children aged 4–14 years. Parental quality of life we assessed using the short-form 8-questionnaire. Results Children with achondroplasia showed significantly lower quality of life scores compared to a healthy reference population from both the child- and parent-report (p = ≤.01), except the child-report of the emotional domain ( t (46) = − 1.73, p = .09). Parents reported significantly lower mental health in comparison with a German reference population ( t (72) = 5.64, p ≤ .01) but no lower physical health ( t (72) = .20, p = .85). While the parental quality of life was a significant predictor of parent-reported children’s quality of life ( F (6,66) = 2.80, p = .02), it was not for child-reported children’s quality of life ( F (6,66) = .92, p = .49). Conclusions Achondroplasia is chronically debilitating. Thus special efforts are needed to address patients’ and parent’s quality of life needs. This special health condition may influence the daily life of the entire family because they have to adapt to the child’s particular needs. Therefore, clinicians should not only focus on the child’s quality of life but also those of the parents.

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Leben mit Achondroplasie

Abstract: Young persons with achondroplasia did not differ in their QoL and strengths and difficulties from healthy controls. Characteristics such as height appear less important for the self-perceived QoL than are strengths and difficulties and protective psychosocia~factors.

Cited by 11 publications

References 27 publications

Achondroplasia: a comprehensive clinical review

Achondroplasia: a comprehensive clinical review

Psychometric properties of the quality of life in short statured youth (QoLISSY) questionnaire within the course of growth hormone treatment

Quality of life of children with achondroplasia and their parents - a German cross-sectional study

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