Description
Guiding principles for the management of achondroplasia recommend diagnosis as early as possible, with referral as soon as possible. Yet this exploratory audit from the European Achondroplasia Forum found only 18% of children are referred at the point of diagnosis.
Six specialist centres provided the timepoint of confirmed or suspected diagnosis, and the timepoint of referral for their last consecutive 5–10 cases of achondroplasia in children with unaffected parents. The timepoint for diagnosis was available in 39 cases, and timepoint of referral in 45.
Overall, two-thirds of cases were diagnosed in utero, and the majority within 1 month of birth. When suspicion of achondroplasia was included in the data, there was an even greater proportion of cases identified earlier in the prenatal period (87.1%). Yet referral took place predominately in the first month, with a delay apparent in many children.
The authors conclude that in countries or regions where there are no official skeletal dysplasia reference or specialist centres, priority should be given to their creation or recognition – together with incentives to improve the structure of the existing multidisciplinary team responsible for the management of achondroplasia. The length of delay between diagnosis and referral warrants further research.
References:
Cormier‑Daire V, AlSayed M, Alves I, Bengoa J, Ben‑Omran T, Boero S, Fredwall S, Garel C, Guillen‑Navarro E, Irving M, Lampe C, Maghnie M, Mortier G, Sousa SB, Mohnike K Orphanet J Rare Dis 2022;17:293 doi.org/10.1186/s13023-022-02442-2