PTCohortDevelopmental medicine and child neurology2022

Medical complications in children with achondroplasia.

Jennifer A Armstrong, Verity Pacey, Louise J Tofts

PMID 35238031

WHAT IT FOUND

In 108 Australian children with achondroplasia, craniocervical stenosis, sleep-disordered breathing, and hearing impairment were common, often before age 4 years.

Orthopaedic complications and obesity occurred later, but later childhood data were thinner.

Key findings

01Craniocervical stenosis was recorded in 52 participants (48%), and 51 (81.0%) of those who had relevant imaging were diagnosed with foramen magnum stenosis.

02Ear, nose, and throat problems were frequent: 44 participants (40.7%) had sleep-disordered breathing and 66 (61.1%) had hearing impairment.

03Most investigations and complications occurred before age 4 years, while orthopaedic complications and obesity occurred later.

STILL TO COME

How it was doneWhat they foundWhat it means for PTs

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What it does not show

The study used retrospective records from one specialist service, so it describes what was documented rather than measuring a controlled outcome. Data were thinner for older children, because fewer had records across later ages, so complication rates in later childhood and adolescence are less accurate than in early childhood. Polysomnography and hearing tests happened at several centres and were inconsistently reported, so sleep-disordered breathing and hearing outcomes may be underestimated. Obesity was defined by BMI, which is problematic in achondroplasia because height is part of the measure. Delayed seating advice was given, but adherence was not recorded, so its effect on thoracolumbar kyphosis cannot be assessed. The study did not address developmental, psychological, cultural, or social factors that may influence care and outcomes.

The easy way to misread this

Do not read these rates as evidence that specialist care, delayed seating, or therapy prevents complications. The study describes records over time and did not compare treatment groups, so it cannot show cause or prevention.

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