Age of diagnosis for children with chromosome 15q syndromes / Anne C. WHEELER in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Age of diagnosis for children with chromosome 15q syndromes Type de document : texte imprimé Auteurs : Anne C. WHEELER, Auteur ; Marie G. GANTZ, Auteur ; Heidi COPE, Auteur ; Theresa V. STRONG, Auteur ; Jessica E. BOHONOWYCH, Auteur ; Amanda MOORE, Auteur ; Vanessa VOGEL-FARLEY, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Infant  Prader-Willi Syndrome/diagnosis/genetics  Chromosome Disorders/diagnosis/genetics  Chromosomes  Angelman Syndrome/diagnosis/genetics  Trisomy Index. décimale : PER Périodiques Résumé : OBJECTIVE: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]). METHODS: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences. RESULTS: The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications. CONCLUSION: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09504-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Age of diagnosis for children with chromosome 15q syndromes [texte imprimé] / Anne C. WHEELER, Auteur ; Marie G. GANTZ, Auteur ; Heidi COPE, Auteur ; Theresa V. STRONG, Auteur ; Jessica E. BOHONOWYCH, Auteur ; Amanda MOORE, Auteur ; Vanessa VOGEL-FARLEY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Child  Infant  Prader-Willi Syndrome/diagnosis/genetics  Chromosome Disorders/diagnosis/genetics  Chromosomes  Angelman Syndrome/diagnosis/genetics  Trisomy Index. décimale : PER Périodiques Résumé : OBJECTIVE: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]). METHODS: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences. RESULTS: The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications. CONCLUSION: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09504-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

---

1 (1 - 1 / 1) Par page : 25 50 100 200