Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
Achondroplasia
Diagnosis
European Achondroplasia Forum
Guiding Principles
Referral
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
27 07 2022
27 07 2022
Historique:
received:
18
10
2021
accepted:
14
07
2022
entrez:
27
7
2022
pubmed:
28
7
2022
medline:
30
7
2022
Statut:
epublish
Résumé
Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary team expert in the condition The European Achondroplasia Forum guiding principles of management highlight the importance of accurate diagnosis and timely referral to a centre specialised in the management of achondroplasia to fully support individuals with achondroplasia and their families, and to appropriately plan management. The European Achondroplasia Forum undertook an exploratory audit of its Steering Committee to ascertain the current situation in Europe and to understand the potential barriers to timely diagnosis and referral. Diagnosis of achondroplasia was primarily confirmed prenatally (66.6%), at Day 0 (12.8%) or within one month after birth (12.8%). For suspected and confirmed cases of achondroplasia, a greater proportion were identified earlier in the prenatal period (87.1%) with fewer diagnoses at Day 0 (5.1%) or within the first month of life (2.6%). Referral to a specialist centre took place after birth (86.6%), predominantly within the first month, although there was a wide variety in the timepoint of referral between countries and in the time lapsed between suspicion or confirmed diagnosis of achondroplasia and referral to a specialist centre. The European Achondroplasia Forum guiding principles of management recommend diagnosis of achondroplasia as early as possible. If concerns are raised at routine ultrasound, second line investigation should be implemented so that the diagnosis can be reached as soon as possible for ongoing management. Clinical and radiological examination supported by molecular testing is the most effective way to confirm diagnosis of achondroplasia after birth. Referral to a centre specialised in achondroplasia care should be made as soon as possible on suspicion or confirmation of diagnosis. 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 managing achondroplasia. The length of delay between diagnosis of achondroplasia and referral to a specialist centre warrants further research.
Sections du résumé
BACKGROUND
Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary team expert in the condition The European Achondroplasia Forum guiding principles of management highlight the importance of accurate diagnosis and timely referral to a centre specialised in the management of achondroplasia to fully support individuals with achondroplasia and their families, and to appropriately plan management. The European Achondroplasia Forum undertook an exploratory audit of its Steering Committee to ascertain the current situation in Europe and to understand the potential barriers to timely diagnosis and referral.
RESULTS
Diagnosis of achondroplasia was primarily confirmed prenatally (66.6%), at Day 0 (12.8%) or within one month after birth (12.8%). For suspected and confirmed cases of achondroplasia, a greater proportion were identified earlier in the prenatal period (87.1%) with fewer diagnoses at Day 0 (5.1%) or within the first month of life (2.6%). Referral to a specialist centre took place after birth (86.6%), predominantly within the first month, although there was a wide variety in the timepoint of referral between countries and in the time lapsed between suspicion or confirmed diagnosis of achondroplasia and referral to a specialist centre.
CONCLUSIONS
The European Achondroplasia Forum guiding principles of management recommend diagnosis of achondroplasia as early as possible. If concerns are raised at routine ultrasound, second line investigation should be implemented so that the diagnosis can be reached as soon as possible for ongoing management. Clinical and radiological examination supported by molecular testing is the most effective way to confirm diagnosis of achondroplasia after birth. Referral to a centre specialised in achondroplasia care should be made as soon as possible on suspicion or confirmation of diagnosis. 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 managing achondroplasia. The length of delay between diagnosis of achondroplasia and referral to a specialist centre warrants further research.
Identifiants
pubmed: 35897040
doi: 10.1186/s13023-022-02442-2
pii: 10.1186/s13023-022-02442-2
pmc: PMC9327303
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
293Informations de copyright
© 2022. The Author(s).
Références
Pediatr Radiol. 2010 Jun;40(6):1046-51
pubmed: 20432024
Nat Rev Endocrinol. 2022 Mar;18(3):173-189
pubmed: 34837063
Ultrasound Obstet Gynecol. 2014 Sep;44(3):365-8
pubmed: 24616001
Lancet. 2007 Jul 14;370(9582):162-172
pubmed: 17630040
Nature. 1994 Sep 15;371(6494):252-4
pubmed: 8078586
Ther Adv Endocrinol Metab. 2020 Mar 3;11:2042018820904016
pubmed: 32166011
Dev Dyn. 2017 Apr;246(4):291-309
pubmed: 27987249
Am J Med Genet A. 2020 Oct;182(10):2297-2316
pubmed: 32803853
Appl Clin Genet. 2014 Jun 24;7:117-25
pubmed: 25053890
Cell. 1994 Jul 29;78(2):335-42
pubmed: 7913883
Adv Pediatr. 2004;51:209-29
pubmed: 15366775
Arch Dis Child. 2021 Feb;106(2):180-184
pubmed: 32883660
Diagn Interv Imaging. 2014 Nov;95(11):1045-53
pubmed: 25216796
Ultrasound Obstet Gynecol. 2011 Mar;37(3):283-9
pubmed: 21105021
Qual Life Res. 2019 Jun;28(6):1457-1464
pubmed: 30637564
Prenat Diagn. 2009 Jul;29(7):697-702
pubmed: 19399756
Am J Med Genet A. 2003 Oct 1;122A(2):100-7
pubmed: 12955760
Am J Med Genet A. 2021 Mar;185(3):695-701
pubmed: 33369042
Orphanet J Rare Dis. 2021 Jul 31;16(1):333
pubmed: 34332609
Pediatrics. 2020 Jun;145(6):
pubmed: 32457214
Lancet. 2000 Sep 30;356(9236):1170
pubmed: 11030304
Neurosurg Focus. 2003 Jan 15;14(1):e4
pubmed: 15766221
Qual Life Res. 2021 Jan;30(1):203-215
pubmed: 32803627
Orphanet J Rare Dis. 2019 Jan 3;14(1):1
pubmed: 30606190
Arch Dis Child. 2012 Feb;97(2):129-34
pubmed: 21460402
J Genet Couns. 2018 Aug 21;:
pubmed: 30128673
Am J Obstet Gynecol. 2018 Dec;219(6):545-562
pubmed: 30048634
Am J Med Genet A. 2019 Sep;179(9):1791-1798
pubmed: 31294928
Orphanet J Rare Dis. 2021 Apr 7;16(1):156
pubmed: 33827611
Lancet. 1997 Aug 16;350(9076):485-7
pubmed: 9274585
Ultrasound Obstet Gynecol. 2014 Jul;44(1):69-75
pubmed: 24623391
AJR Am J Roentgenol. 2013 May;200(5):989-1000
pubmed: 23617480
Clin Genet. 2020 Jan;97(1):179-197
pubmed: 30916780
Am J Obstet Gynecol. 2016 Feb;214(2):291-292
pubmed: 26450406
Qual Life Res. 2017 May;26(5):1337-1348
pubmed: 27866314
Genet Med. 2021 Aug;23(8):1498-1505
pubmed: 34006999
AJP Rep. 2017 Jan;7(1):e8-e12
pubmed: 28210519
Genet Med. 2021 Apr;23(4):732-739
pubmed: 33204020