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Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes

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Abstract

Purpose

We report aspects of sleep-disordered breathing in a cohort of achondroplastic children who attended our hospital.

Methods

A retrospective chart review was conducted for a 15-year period to further evaluate the diagnosis and treatment of sleep-disordered breathing in children with achondroplasia.

Results

A review of the medical records was undertaken for 46 children (63%, mean age 3.9 years) with achondroplasia that had overnight polysomnography. Among them, 25 (54.3%) had obstructive sleep apnea (OSA). For 19 out of 46 patients (follow-up rate, 41.3%) with a mean follow-up of 31.3 months (range, 3 month to 11 years), 13 had undergone adenotonsillectomy, while nine were treated with continuous positive airway pressure.

Conclusions

Prospective evaluation of our clinic population confirms a high incidence of SDB in achondroplastic children. OSA has been linked to raise intracranial pressure as well as neurocognitive deficits in children and we hypothesize that associations between neurological and respiratory abnormalities in this disorder are a consequence of the early onset of associated respiratory, rather than the neurological complications.

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Competing interests

None declared.

Author information

Authors and Affiliations

  1. Paediatric Infectious Diseases, Health Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran

    Shahla Afsharpaiman

  2. Department of Genetics, The Children’s Hospital at Westmead, Sydney, Australia

    David O. Sillence

  3. Research Department, Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran

    Mehrdad Sheikhvatan

  4. Department of Rehabilitation, The Children’s Hospital at Westmead, Westmead, Sydney, Australia

    Jenny E. Ault

  5. Department of Respiratory Medicine, The Children’s Hospital at Westmead, Sydney, Australia

    Karen Waters

  6. Respiratory Support Service, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, Sydney, 2145, NSW, Australia

    Karen Waters

Authors
  1. Shahla Afsharpaiman
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  2. David O. Sillence
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  3. Mehrdad Sheikhvatan
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  4. Jenny E. Ault
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  5. Karen Waters
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Corresponding author

Correspondence to Karen Waters.

Additional information

What is already known on this topic?

Sleep-disordered breathing and apnea has been identified as a common finding in the children with achondroplasia and its pathophysiology has been clearly described.

Results of some treatment procedures for achondroplasia are effective and acceptable, including adenotonsillectomy, ventriculoperitoneal shunt, or foramen magnum decompression.

What this paper adds

Review of the incidence and types of sleep-associated respiratory abnormalities in achondroplasia, including estimates of the proportion of patients who require long-term intervention for OSA.

Support for early respiratory intervention in achondroplasia to avoid adverse neurological outcomes.

Use of CPAP in infants with OSA to avoid the need for tracheostomy.

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Afsharpaiman, S., Sillence, D.O., Sheikhvatan, M. et al. Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. Sleep Breath 15, 755–761 (2011). https://doi.org/10.1007/s11325-010-0432-6

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  • DOI: https://doi.org/10.1007/s11325-010-0432-6

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