Sleep-disordered breathing is a common feature in children with achondroplasia. The aim of our study was to review the poly(somno)graphic (P(S)G) findings and consequent treatments in children with achondroplasia followed in the national reference center for skeletal dysplasia. A retrospective review of the clinical charts and P(S)G of 43 consecutive children (mean age 3.9 ± 3.5 years) with achondroplasia seen over a period of 2 years was performed. Twenty four (59%) children had obstructive sleep apnea (OSA). Thirteen children had an obstructive apnea-hypopnea index (OAHI) < 5/hr, four had an OAHI between 5 and 10/hr, and seven had an OAHI ≥ 10/hr. Ten of the 15 children who had previous upper airway surgery still had an abnormal P(S)G. All the patients with an AHI ≥ 10/hr were under 7 years of age and none had a prior tonsillectomy. The children who underwent adeno-tonsillectomy, coupled in most cases with turbinectomy, were significantly older (mean age 7.5 ± 3.5 vs. 3.5 ± 1.7 years old, P = 0.015) and had significantly better P(S)G results than those who underwent only adeno-turbinectomy. No correlation was observed between the mean AHI value at the baseline P(S)G and the type of academic course (standard, supported or specialized). In conclusion, OSA is common in children with achondroplasia. The observation of a reduced prevalence of OSA after (adeno-)tonsillectomy is in favor of this type of surgery when possible.
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http://dx.doi.org/10.1002/ajmg.a.38130 | DOI Listing |
Nat Rev Endocrinol
January 2025
Sunnaas Rehabilitation Hospital, Nesodden, Norway.
Achondroplasia is the most common genetic form of short-limbed skeletal dysplasia (dwarfism). Clinical manifestations and complications can affect individuals across the lifespan, including the need for adaptations for activities of daily living, which can affect quality of life. Current international guidelines focus on symptomatic management, with little discussion regarding potential medication, as therapeutic options were limited at the time of their publication.
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December 2024
BioMarin (UK) Limited, Ltd., London, UK.
Background: Vosoritide is a C-type natriuretic peptide analog that addresses an underlying pathway causing reduced bone growth in achondroplasia. Understanding the vosoritide treatment effect requires evaluation over an extended duration and comparison with outcomes in untreated children.
Methods: After completing ≥6 months of a baseline observational growth study and 52 weeks in a double-blind, placebo-controlled study (ClinicalTrials.
Biochim Biophys Acta Mol Basis Dis
December 2024
Department of Bioactive Molecules, Pharmacology, Gifu Pharmaceutical University, Gifu 501-1196, Japan; United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu 501-1196, Japan; Center for One Medicine Innovative Translational Research (COMIT), Division of Innovative Modality Development, Gifu University, Gifu 501-1196, Japan. Electronic address:
Genet Med Open
November 2023
Hospital de Pediatría "Prof. Dr. Juan P. Garrahan," Buenos Aires, Argentina.
Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA), aimed to assess health-related quality of life and medical resource utilization among Latin America patients with achondroplasia.
Methods: Data were collected from individuals aged 3 years and above in Argentina, Brazil, and Colombia between 2018 and 2021.
J Int Adv Otol
November 2024
Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University College of Medicine, Seoul, Republic of Korea.
Background: Achondroplasia, the most prevalent form of skeletal dysplasia involving short stature, necessitates a multidisciplinary approach that includes otology and auditory rehabilitation. Despite this, the clinical characteristics of hearing loss and otologic manifestations in achondroplasia patients remain poorly defined. This study aimed to explore the prevalence and treatment outcomes of otologic disease in individuals with achondroplasia.
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