Bone Abstracts

Objectives: Respiratory and Ear, Nose and Throat (ENT) complications are commonly reported in children with achondroplasia but little data is available regarding prevalence and outcome. In an unselected cohort of children with achondroplasia, we studied the prevalence of:•Abnormal cardiorespiratory sleep studies•Speech and hearing impairment•ENT interventions•Ventilatory support and respiratory outcomes

Methods: All children under 2 years undergo routine cardiorespiratory sleep study (CRSS) and retrospective data was collected on all patients over a 2 year period (Total N=39, mean age=0.79±0.41 years, Females N=20).

Data collected included: hearing impairment; speech delay; grommet insertion; the need for hearing aids; non invasive ventilatory support (such as continuous positive airway pressure (CPAP), insertion of nasopharyngeal airway (NPA) and oxygen requirement). CRSS and respiratory outcomes post ENT interventions were also collected.

Results: 64% patients (N=25) had abnormal CRSS. 44% (N=17) had Obstructive Sleep Apnoea (OSA), 18% (N=7) mixed OSA and Central Apnoea, and 2% (N=1) Central Apnoea. 25% (N=10) had hearing impairment and 28% (N=11) speech delay. 38% (N=15) of patients had Tonsillectomy and or/Adenoidectomy interventions (T/A), 28% (N=11) had grommets inserted, 8%(N=3) required hearing aids. 15% patients (N=6) required ventilatory support: 17% of these (N=1) had mild obstructive and central apnoea; 50% (N=3) had severe OSA and 33% (N=2) had mild OSA.

Respiratory support included: nocturnal CPAP (N=4, two also needed 24 h or nocturnal oxygen), NPA (N=2, one subsequently required CPAP). 83% (N=5) patients underwent either Tonsillectomy and/or Adenoidectomy (T/A). One patient was unable to undergo an ENT interventions due to age and remained on CPAP. Outcomes 1 year post T/A include; no respiratory support (N=1), nightly oxygen (N=1). NPA (N=1) and CPAP (N=1). One patient commenced CPAP aged 2.5 year despite 2 T&A operations.

Conclusion: Achondroplasia in young children is commonly associated with sleep apnoea (64%), hearing impairment (25%) and speech delay (28%). 38% of these children required T/A removal. Non invasive ventilatory support was needed in 15% which included nocturnal CPAP, NPA insertion and home oxygen. Despite T&A the majority of this subgroup still required ventilatory support after one year. Patients with Achondroplasia should be routinely screened for speech and language delay and respiratory complications.

Disclosure: The authors declared no competing interests.