ArticleJournal of endocrinological investigation2024
The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys.
Article in Journal of endocrinological investigation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age-Stratified Guidelines.Orthodontics & craniofacial research · 2026Pooled it
- Surgical Correction of Thoracolumbar Kyphosis in Achondroplasia: Complications, Pitfalls, and Reflections on the Pursuit of Maximal Realignment in View of Correction Leading to Functional Disability.Journal of clinical medicine · 2026Article
- Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences.Orphanet journal of rare diseases · 2025Article
- [Significance and considerations of early diagnosis and treatment for improving height outcomes in children with achondroplasia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Spinal Postures and Mobility in Children with Achondroplasia vs. Age- and Sex-Matched Healthy Individuals: A Preliminary Report.Journal of clinical medicine · 2024Article
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis study aimed to assess the real-world management of achondroplasia in Italy.
methodsTwo online surveys addressed to (1) parents/caregivers of individuals with achondroplasia and (2) Italian clinicians managing individuals with achondroplasia were conducted to assess real-world perspectives on achondroplasia management. Both surveys collected data on either patient or clinician demographics, details on diagnoses and referrals, disease complications, and views/experiences with limb lengthening surgery.
resultsIn total, 42 parents/caregivers and 19 clinicians (from 18 hospitals) completed the surveys. According to parents/caregivers, achondroplasia diagnosis was most commonly made in the third trimester of gestation (55% of respondents), with a genetic test performed to confirm the diagnosis in all but one case. In contrast, the clinicians indicated that, while achondroplasia was typically suspected during the prenatal period (78%), diagnosis was more frequently confirmed postnatally (72%). Parents/caregivers reported that the greatest impact of achondroplasia-related complications occurred in their children between the ages of 2-5 years. The most significant complications were otitis, sleep apnoea, stenosis of the foramen magnum or pressure on the spinal cord, and hearing difficulties. Lengthening surgery had been presented as a treatment option to 92% of responding parents/caregivers, with 76% of clinicians viewing surgery favourably. Typically, clinicians' reasons for suggesting limb lengthening surgery were to improve patient quality of life, increase patient autonomy and self-acceptance, improve trunk-limb disproportion, short stature and walking, and ensure that all possible treatment options had been presented to the parents/caregivers.
conclusionThis survey provides insight into the real-world management of individuals with achondroplasia in Italy.
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