Literature DB >> 27866314

Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias.

Nitasha Dhiman1, Alia Albaghdadi2, Cheryl K Zogg3,4, Meesha Sharma4, Julie E Hoover-Fong5, Michael C Ain6, Adil H Haider7,8.   

Abstract

INTRODUCTION: Numerous factors associate with health disparities. The extent to which such factors influence health-related quality of life (HRQOL) among adults with short stature skeletal dysplasias (SD) is unknown. In an effort to update and clarify knowledge about the HRQOL of adults with SD, this study aimed to quantify HRQOL scores relative to the American average and assess whether specific indicators are associated with lower scores.
METHODS: Members (>18 years) of Little People of America were invited to complete an online survey assessing HRQOL using the SF-12 supplemented with indicator-specific questions. SF-12 components (Physical Component Summary, PCS; Mental Component Summary, MCS) were compared to the standardized national American mean. Scores were divided at the median to identify factors associated with lower scores using multivariable logistic regression, adjusting for age, gender, race, education, and employment.
RESULTS: A total of 189 surveys were completed. Mean and median PCS and MCS were below the national mean of 50 (p < 0.001). Advancing decade of age corresponded to a significant decline in PCS (p < 0.001) but not MCS (p = 0.366). Pain prevalence was high (79.4%); however, only 5.9% visited a pain specialist. Significant factors for lower PCS included age >40 years (p = 0.020), having spondyloepiphyseal dysplasia congenita (SED) or diastrophic dysplasia relative to achondroplasia (p = 0.023), pain (p < 0.001), and "partial" versus "full" health insurance coverage (p = 0.034). For MCS, significant factors included a lack of social support (p = 0.002) and being treated differently/feeling stigmatized by health care providers (p = 0.022).
CONCLUSIONS: Individuals with SD face documented disparities and report lower HRQOL. Further research and interventions are needed to modify nuanced factors influencing these results and address the high prevalence of pain.

Entities:  

Keywords:  Disparities; Dwarfism; Health-related quality of life; Skeletal dysplasia

Mesh:

Year:  2016        PMID: 27866314     DOI: 10.1007/s11136-016-1455-7

Source DB:  PubMed          Journal:  Qual Life Res        ISSN: 0962-9343            Impact factor:   4.147


  22 in total

1.  Inequality in quality: addressing socioeconomic, racial, and ethnic disparities in health care.

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2.  Living with achondroplasia: attitudes toward population screening and correlation with quality of life.

Authors:  Sarah E Gollust; Richard E Thompson; Holly C Gooding; Barbara B Biesecker
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7.  Ethnic disparities in diabetic complications in an insured population.

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10.  Cross-sectional assessment of pain and physical function in skeletal dysplasia patients.

Authors:  Y Alade; D Tunkel; K Schulze; J McGready; G Jallo; M Ain; T Yost; J Hoover-Fong
Journal:  Clin Genet       Date:  2012-11-29       Impact factor: 4.438

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  18 in total

1.  [Clinical features and FGFR3 mutations of children with achondroplasia].

Authors:  Hui-Qin Zhang; Dong-Ying Tao; Jing-Jing Zhang; Huan-Hong Niu; Jian-Feng Luo; Sheng-Quan Cheng
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2022-04-15

Review 2.  Disease-specific complications and multidisciplinary interventions in achondroplasia.

Authors:  Hiroshi Kitoh; Masaki Matsushita; Kenichi Mishima; Yasunari Kamiya; Kenta Sawamura
Journal:  J Bone Miner Metab       Date:  2022-01-14       Impact factor: 2.626

Review 3.  International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

Authors:  Ravi Savarirayan; Penny Ireland; Melita Irving; Dominic Thompson; Inês Alves; Wagner A R Baratela; James Betts; Michael B Bober; Silvio Boero; Jenna Briddell; Jeffrey Campbell; Philippe M Campeau; Patricia Carl-Innig; Moira S Cheung; Martyn Cobourne; Valérie Cormier-Daire; Muriel Deladure-Molla; Mariana Del Pino; Heather Elphick; Virginia Fano; Brigitte Fauroux; Jonathan Gibbins; Mari L Groves; Lars Hagenäs; Therese Hannon; Julie Hoover-Fong; Morrys Kaisermann; Antonio Leiva-Gea; Juan Llerena; William Mackenzie; Kenneth Martin; Fabio Mazzoleni; Sharon McDonnell; Maria Costanza Meazzini; Josef Milerad; Klaus Mohnike; Geert R Mortier; Amaka Offiah; Keiichi Ozono; John A Phillips; Steven Powell; Yosha Prasad; Cathleen Raggio; Pablo Rosselli; Judith Rossiter; Angelo Selicorni; Marco Sessa; Mary Theroux; Matthew Thomas; Laura Trespedi; David Tunkel; Colin Wallis; Michael Wright; Natsuo Yasui; Svein Otto Fredwall
Journal:  Nat Rev Endocrinol       Date:  2021-11-26       Impact factor: 47.564

4.  Experiences of Women of Short Stature During the Perinatal Period.

Authors:  Serah Nthenge; Lauren Smith; Sandy Ho; Monika Mitra
Journal:  J Obstet Gynecol Neonatal Nurs       Date:  2022-05-09

Review 5.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

6.  High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.

Authors:  Svein O Fredwall; Unni Steen; Olga de Vries; Cecilie F Rustad; Heidi Beate Eggesbø; Harald Weedon-Fekjær; Ingeborg B Lidal; Ravi Savarirayan; Grethe Månum
Journal:  Orphanet J Rare Dis       Date:  2020-05-25       Impact factor: 4.123

Review 7.  Current knowledge of medical complications in adults with achondroplasia: A scoping review.

Authors:  Svein O Fredwall; Grethe Maanum; Heidi Johansen; Hildegun Snekkevik; Ravi Savarirayan; Ingeborg B Lidal
Journal:  Clin Genet       Date:  2019-04-22       Impact factor: 4.438

8.  Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia.

Authors:  Penelope J Ireland; Ravi Savarirayan; Tash Pocovi; Tracy Tate; Marie Coussens; Louise Tofts; Craig Munns; Verity Pacey
Journal:  Orphanet J Rare Dis       Date:  2021-01-21       Impact factor: 4.123

9.  Physical fitness and activity level in Norwegian adults with achondroplasia.

Authors:  Olga Marieke de Vries; Heidi Johansen; Svein Otto Fredwall
Journal:  Am J Med Genet A       Date:  2020-12-31       Impact factor: 2.802

10.  Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.

Authors:  Pamela K Foreman; Femke van Kessel; Rosa van Hoorn; Judith van den Bosch; Renée Shediac; Sarah Landis
Journal:  Am J Med Genet A       Date:  2020-08-17       Impact factor: 2.802

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