{
  "abstract": "Objectives Sleep-disordered breathing is a key childhood complication in children with achondroplasia. This retrospective study aimed to document the prevalence of sleep-disordered breathing in children with achondroplasia assessed by polysomnography.Design The prevalence of sleep-disordered breathing assessed by polysomnography among children aged 0–18 years with achondroplasia from 2013 to 2024 at The Royal Children’s Hospital, Australia, was retrospectively reviewed.Results The cohort included 80 children with achondroplasia (54% females, 95% confirmed molecular diagnosis) with an average number of 3.6 polysomnographies collected per child (n=288). A total of 85% (68/80) had sleep-disordered breathing and 21% reported no prior symptoms. Sleep-disordered breathing subtypes included obstructive sleep apnoea in 81% (55/68), central sleep apnoea in 3% (2/68), mixed sleep apnoea in 7% (5/68) and primary snoring in 9% (6/68). Among those with obstructive and mixed sleep apnoea, 58% (35/60) had moderate or severe obstructive sleep apnoea. In 44 children, a corresponding MRI was evaluated for foramen magnum stenosis using the Achondroplasia Foramen Magnum Score. No correlation was found with sleep-disordered breathing severity (Spearman’s coefficient (ρ)=0.03). Among 27 children who received a precision therapy for achondroplasia (vosoritide, n=18, infigratinib, n=8 and recifercept, n=1), the median respiratory disturbance index/hour improved from 2.7 (25th–75th percentile, (0.9–4.8)) to 1.1 (0.3–2.6) after 1 year of treatment compared with baseline.Conclusions Sleep-disordered breathing was present in 85% of 80 children with achondroplasia, with 21% being asymptomatic. Respiratory parameters did not correlate with foramen magnum stenosis severity and improved after 1 year of treatment in those treated with a precision therapy.",
  "authors": [
    {
      "affiliations": [
        "Murdoch Children’s Research Institute, Parkville, Victoria, Australia",
        "Department of Pediatrics, Center for Rare Diseases, Rigshospitalet, Copenhagen, Denmark"
      ],
      "name": "Louise Hove Buciek"
    },
    {
      "affiliations": [
        "Murdoch Children’s Research Institute, Parkville, Victoria, Australia",
        "Department of Pediatrics, Center for Rare Diseases, Rigshospitalet, Copenhagen, Denmark"
      ],
      "name": "Jeppe Ravn Jacobsen"
    },
    {
      "affiliations": [
        "Murdoch Children’s Research Institute, Parkville, Victoria, Australia"
      ],
      "name": "Supriya Raj"
    },
    {
      "affiliations": [
        "Respiratory and Sleep Medicine, The Royal Children’s Hospital Melbourne, Melbourne, Victoria, Australia"
      ],
      "name": "Anne-Marie Adams"
    },
    {
      "affiliations": [
        "Respiratory and Sleep Medicine, The Royal Children’s Hospital Melbourne, Melbourne, Victoria, Australia"
      ],
      "name": "Moya Vandeleur"
    },
    {
      "affiliations": [
        "Department of Pediatrics, Center for Rare Diseases, Rigshospitalet, Copenhagen, Denmark"
      ],
      "name": "Hanne B Hove"
    },
    {
      "affiliations": [
        "Department of Otorhinolaryngology, Head and Neck Surgery, and Audiology, Rigshospitalet, Copenhagen, Denmark"
      ],
      "name": "Christian von Buchwald"
    },
    {
      "affiliations": [
        "Department of Otorhinolaryngology, Head and Neck Surgery, and Audiology, Rigshospitalet, Copenhagen, Denmark"
      ],
      "name": "Eva Kirkegaard Kiaer"
    },
    {
      "affiliations": [
        "Respiratory and Sleep Medicine, The Royal Children’s Hospital Melbourne, Melbourne, Victoria, Australia"
      ],
      "name": "Amanda Griffiths"
    },
    {
      "affiliations": [
        "Molecular Therapies, Murdoch Children’s Research Institute, Parkville, Victoria, Australia"
      ],
      "name": "Ravi Savarirayan"
    }
  ],
  "title": "Sleep-disordered breathing in children with achondroplasia assessed by polysomnography: a retrospective chart review",
  "uid": "dbaeecbd-eb95-5cb7-b7d7-94e36348f5cd"
}