Living with achondroplasia in an average‐sized world: An assessment of quality of life

@article{Gollust2003LivingWA,
  title={Living with achondroplasia in an average‐sized world: An assessment of quality of life},
  author={Sarah E. Gollust and Richard E Thompson and Holly C. Gooding and Barbara B Biesecker},
  journal={American Journal of Medical Genetics Part A},
  year={2003},
  volume={120A}
}
Mutations in the gene encoding fibroblast growth factor receptor 3 cause achondroplasia, the most common form of inherited skeletal dysplasia. Although there are more than 10,000 individuals with achondroplasia living in the United States, there has been little study of their quality of life (QOL). For this study, surveys were collected from 189 individuals affected with achondroplasia (ACH) and 136 unaffected first‐degree relatives (FDRs) of affected individuals. Individuals affected with… Expand
[Living with achondroplasia- how do young persons with disproportional short stature rate their quality of life and which factors are associated with quality of life?].
TLDR
This study describes patient-reported indicators of quality of life (QoL) as well as the strengths and difficulties of young people with achondroplasia and identifies possible correlates and adds psychological variables to the regression model increased the proportion of variance in QoL. Expand
Mortality in achondroplasia study: A 42‐year follow‐up
TLDR
Overall survival and the average life expectancy for this ACH population were decreased by 10 years, demonstrating that despite advances in the knowledge of the natural history of ACH and health care needs of this population, mortality remains significantly increased. Expand
Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review.
TLDR
The literature demonstrates that ACH patients experience limitations in physical functioning and poorer QoL outcomes compared to average stature people across the life span, which appeared to be at least in part due to disproportionate short stature. Expand
Quality of life of children with achondroplasia and their parents - a German cross-sectional study
TLDR
Children with achondroplasia showed significantly lower quality of life scores compared to a healthy reference population from both the child- and parent-report, and clinicians should not only focus on the child’squality of life but also those of the parents. Expand
Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history.
TLDR
A critical review and discussion of the natural history of achondroplasia based on current literature evidence and the perspectives of clinicians with extensive knowledge and practical experience in managing individuals with this diagnosis is provided. Expand
Physical, Mental, and Social Problems of Adolescent and Adult Patients with Achondroplasia
Patients with achondroplasia (ACH) require various medical interventions throughout the lifetime. Survey of health-related quality of life (HRQoL) in adult ACH patients is essential for theExpand
Wie beurteilen junge Menschen mit disproportioniertem Kleinwuchs ihre Lebensqualität und mit welchen Faktoren ist sie assoziiert
Living with achondroplasia - how do young persons with disproportional short stature rate their quality of life and which factors are associated with quality of life? Abstract: Objective: Presently,Expand
Natural history of achondroplasia: A retrospective review of longitudinal clinical data
TLDR
The data show that achondroplasia has a significant impact on patients' physical health, and complications continue to be reported and require intervention throughout patients' lifetimes, highlighting the need for continuous support beyond pediatric care, by adult care clinicians experienced with managing the long‐term complications. Expand
Assessing physical symptoms, daily functioning, and well‐being in children with achondroplasia
TLDR
Qualitative evidence is provided to support the development of two observer‐reported outcome measures assessing the physical symptoms/complications of achondroplasia in children and impacts on children's quality of life and provides evidence supporting the content validity of the ACEMs. Expand
Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life
TLDR
This study is the largest to date and found the highest prevalence of depression compared to prior studies, and it is likely that effectively treating depression may significantly enhance QoL for individuals with NF1. Expand
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