Evidence map›Paper›PMID 42070190›Full record

ArticleQuality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation2026

Experiences and treatment perspectives of adolescents and young adults with achondroplasia and caregivers: a qualitative interview study.

Joshua Maher, Gabriela S Fernandez, Cemre Robinson, Kenneth I Berger, Katelyn Cutts, Matthew Quaife, Stéphanie Bascle

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Article in Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Joshua MaherPatient Informed Development and Health Value Translation, Sanofi-Aventis Ltd, Reading, UK.
Gabriela S FernandezPPD Evidera Patient-Centered Research, Thermo Fisher Scientific, Waltham, MA, USA. gabriela.fernandez@thermofisher.com.
Cemre RobinsonClinical, Sanofi-Aventis U.S. LLC, Cambridge, MA, USA.
Kenneth I BergerGlobal Medical Affairs, Sanofi-Aventis U.S. LLC, Rare Diseases, Cambridge, MA, USA.
Katelyn CuttsPPD Evidera Patient-Centered Research, Thermo Fisher Scientific, Waltham, MA, USA.
Matthew QuaifePPD Evidera Patient-Centered Research, Thermo Fisher Scientific, London, UK.
Stéphanie BasclePatient Informed Development and Health Value Translation, Sanofi-Aventis Recherche et Développement (SARD), Gentilly, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposePeople with achondroplasia (ACH) experience numerous symptoms and impacts on health-related quality of life (HRQoL) and have varying perspectives on treatment. This study characterized the experiences of adolescents and young adults with ACH and caregivers to identify diagnoses, signs and symptoms, and HRQoL impacts associated with ACH and understand treatment perspectives, experiences, and expectations.

methodsA qualitative interview study was conducted in the US and South Korea from February to June 2023. Participants were people with ACH aged 12–20 years and caregivers (aged ≥ 18 years) of people with ACH aged ≤ 20 years. Interviews explored signs, symptoms, impacts on HRQoL, and treatment perspectives. Interview transcripts were analyzed qualitatively, and key concepts were identified.

resultsIn total, 30 participants were recruited (15 people with ACH; 15 caregivers). The most prevalent comorbid diagnoses were sleep apnea (n = 23, 77%), teeth misalignment (n = 20, 67%), obesity (n = 18, 60%), and ear infections (n = 17, 57%). The most common symptoms were pain and snoring (n = 25, 83% each). HRQoL impacts primarily involved physical functioning (n = 29, 97%), daily activities (n = 25, 83%), mobility/gait (n = 25, 83%), and social activities (n = 23, 77%). Increased height (n = 20, 67%) and reduced pain (n = 12, 40%) were the most frequently expected treatment benefits. Participants were generally satisfied with treatments but emphasized burdens such as frequent injections. No specific treatment side effects or risks were prominent.

conclusionPeople with ACH and caregivers prioritized treatments that increased height and reduced pain and wished less burdensome modes of administration were available. Findings may help guide future research and treatment development.

Indexed as

AchondroplasiaCaregiversQuality of LifeAdolescentAdultChildFemaleHumansInterviews as TopicMaleQualitative ResearchRepublic of KoreaUnited StatesYoung AdultAchondroplasiaCaregiversPatient experiencesSkeletal dysplasiaSymptoms

Identifiers

PMID42070190
PMCPMC13136193

What Socratic holds

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LicenceCC BY-NC-ND
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.