[en] Achondroplasia (ACH), one of the most common skeletal dysplasia is a multisystem disorder
with a range of complications leading to reduced quality of life. In 2022, an international
consensus statement was published with guidelines for ACH management and care. This
prompted us to collect data on the current management policy of ACH paediatric patients in
Belgium.
Materials and Methods
Data from 6 Belgian centres were collected in 2022 through the completion of a survey by
minimum one ACH expert (N=9) from each centre. The survey focused on the time of
diagnosis, the composition of the multidisciplinary team (MDT), the follow-up schedule
and the main paediatric complications.
Results
The 6 centres reported a total of 94 patients being followed up. In each MDT a clinical geneticist
and an orthopaedic surgeon are involved (N=9/9). Paediatric endocrinologists, neuropaediatricians,
and ENT physicians are the most frequently associated members (N=8/9).
Most ACH cases (70-100%) are diagnosed prenatally (N=7/7). During the follow-up, ACHadapted
developmental tools and growth charts are systematically used (N=9/9). In all centres,
screening for foramen magnum stenosis (FMS) between the ages 0 - 2 years is only performed
when clinically indicated. Polysomnography is performed at least once before the first birthday
in 5/6 centres.
A frequency scale question to the experts (n=9) was used to estimate the occurrences of the
complications in this cohort. Recurrent otitis media is the most frequent reported complication
(N=7/9). FMS requiring decompression surgery is mentioned as rarely performed (N=5/9) and
limb lengthening surgery seems to be restricted to a few centres (N=3/8).
Conclusions
The survey highlights the variability in care management of ACH amongst the di[erent centres,
illustrating the need for a national consensus protocol. Additionally, data collection in the field
of rare diseases such as ACH remains challenging and underlines the need of accurate
registries, especially with the perspective of new therapeutic modalities.
Disciplines :
Human health sciences: Multidisciplinary, general & others
Author, co-author :
Harvengt, Julie ; Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Dimitrov, Boyan; Universitair Ziekenhuis Brussel (UZ Brussel) > Clinical Sciences, research group Reproduction and Genetics, Center for Medical Genetics, Vrije Universiteit Brussel (VUB), , 1090 Brussels, Belgium.
