Dans notre contexte géographique, tous les nouveau-nés se voient proposer le test du talon ou dépistage néonatal des maladies congénitales, qui comprend actuellement 10 maladies dans la Communauté valencienne.

Les lignes directrices cliniques pour le diagnostic du retard global de développement et de la déficience intellectuelle de l'American Academy of Neurology et de l'American Academy of Pediatrics ne recommandaient pas dans leur ligne directrice de 2006 la réalisation systématique d'études métaboliques chez les enfants présentant un retard global de développement, puisque leur rendement diagnostique était de 1 à 5 %. Cependant, dans la revue de 2014, cette recommandation a été modifiée et l'étude métabolique a été incluse chez les enfants sans cause identifiable, selon le protocole proposé par van Karnebeeck, basé sur 2 étapes :

1ère étape : Screening métabolique non ciblé.
  • Sang:
    • Lactate.
    • Ammonium.
    • Acides aminés.
    • Folate.
    • Sialotransferrines.
    • Cuivre et celluloplasmine.
    • Homocystéine totale.
    • Acylcarnitines.
    • VLCFA.
  • Urine:
    • Acides organiques.
    • Créatine et GAA.
    • Glucosamineglycanes.
    • Oligosaccharides.
2ème étape : Screening métabolique ciblé.

Cependant, il peut également orienter les patients pour qui effectuer une étude métabolique à partir de l'existence de certains données du dossier médical ou des caractéristiques exploratoires qui augmentent la probabilité d'une métabolopathie (Quand devinez une métabolopathie ?).

Sur le Web ID traitable Il est possible de rechercher des informations pour orienter davantage le choix du traitement approprié.

Sur le Web Vademecum MétaboliqueIl existe un compendium d'accès libre sur tous les erreurs congénitales du métabolisme.

19955111 {19955111:5WUGPWQ8} 1 Vancouver 50 défaut 944 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%225WUGPWQ8%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Moeschler%20et%20al.%22%2C%22parsedDate%22%3A%222014-09-01%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BMoeschler%20JB%2C%20Shevell%20M%2C%20Moeschler%20JB%2C%20Shevell%20M%2C%20Saul%20RA%2C%20Chen%20E%2C%20et%20al.%20Comprehensive%20Evaluation%20of%20the%20Child%20With%20Intellectual%20Disability%20or%20Global%20Developmental%20Delays.%20Pediatrics%20%5BInternet%5D.%202014%20Sept%201%20%5Bcited%202015%20June%2029%5D%3B134%283%29%3Ae903%26%23x2013%3B18.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fpediatrics.aappublications.org%5C%2Fcontent%5C%2F134%5C%2F3%5C%2Fe903%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fpediatrics.aappublications.org%5C%2Fcontent%5C%2F134%5C%2F3%5C%2Fe903%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Comprehensive%20Evaluation%20of%20the%20Child%20With%20Intellectual%20Disability%20or%20Global%20Developmental%20Delays%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22John%20B.%22%2C%22lastName%22%3A%22Moeschler%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michael%22%2C%22lastName%22%3A%22Shevell%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22John%20B.%22%2C%22lastName%22%3A%22Moeschler%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michael%22%2C%22lastName%22%3A%22Shevell%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Robert%20A.%22%2C%22lastName%22%3A%22Saul%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Emily%22%2C%22lastName%22%3A%22Chen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Debra%20L.%22%2C%22lastName%22%3A%22Freedenberg%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Rizwan%22%2C%22lastName%22%3A%22Hamid%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marilyn%20C.%22%2C%22lastName%22%3A%22Jones%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Joan%20M.%22%2C%22lastName%22%3A%22Stoler%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Beth%20Anne%22%2C%22lastName%22%3A%22Tarini%22%7D%5D%2C%22abstractNote%22%3A%22Global%20developmental%20delay%20and%20intellectual%20disability%20are%20relatively%20common%20pediatric%20conditions.%20This%20report%20describes%20the%20recommended%20clinical%20genetics%20diagnostic%20approach.%20The%20report%20is%20based%20on%20a%20review%20of%20published%20reports%2C%20most%20consisting%20of%20medium%20to%20large%20case%20series%20of%20diagnostic%20tests%20used%2C%20and%20the%20proportion%20of%20those%20that%20led%20to%20a%20diagnosis%20in%20such%20patients.%20Chromosome%20microarray%20is%20designated%20as%20a%20first-line%20test%20and%20replaces%20the%20standard%20karyotype%20and%20fluorescent%20in%20situ%20hybridization%20subtelomere%20tests%20for%20the%20child%20with%20intellectual%20disability%20of%20unknown%20etiology.%20Fragile%20X%20testing%20remains%20an%20important%20first-line%20test.%20The%20importance%20of%20considering%20testing%20for%20inborn%20errors%20of%20metabolism%20in%20this%20population%20is%20supported%20by%20a%20recent%20systematic%20review%20of%20the%20literature%20and%20several%20case%20series%20recently%20published.%20The%20role%20of%20brain%20MRI%20remains%20important%20in%20certain%20patients.%20There%20is%20also%20a%20discussion%20of%20the%20emerging%20literature%20on%20the%20use%20of%20whole-exome%20sequencing%20as%20a%20diagnostic%20test%20in%20this%20population.%20Finally%2C%20the%20importance%20of%20intentional%20comanagement%20among%20families%2C%20the%20medical%20home%2C%20and%20the%20clinical%20genetics%20specialty%20clinic%20is%20discussed.%22%2C%22date%22%3A%2209%5C%2F01%5C%2F2014%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1542%5C%2Fpeds.2014-1839%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fpediatrics.aappublications.org%5C%2Fcontent%5C%2F134%5C%2F3%5C%2Fe903%22%2C%22PMID%22%3A%2225157020%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220031-4005%2C%201098-4275%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22TSGGWJ4V%22%2C%22WP7IK3VM%22%5D%2C%22dateModified%22%3A%222026-07-15T22%3A40%3A32Z%22%7D%7D%5D%7D
1.
Moeschler JB, Shevell M, Moeschler JB, Shevell M, Saul RA, Chen E et al. Évaluation complète de l'enfant atteint de déficience intellectuelle ou de retards de développement globaux. Pédiatrie [Internet]. 1er septembre 2014 [cité le 29 juin 2015];134(3):e903-18. Disponible à partir de : http://pediatrics.aappublications.org/content/134/3/e903