Asset Details
Do you wish to reserve the book?
Age of diagnosis for children with chromosome 15q syndromes
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Age of diagnosis for children with chromosome 15q syndromes
Do you wish to request the book?
Age of diagnosis for children with chromosome 15q syndromes
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Age of diagnosis for children with chromosome 15q syndromes
2023
Overview
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.
Publisher
BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
Subject
/ Angelman Syndrome - diagnosis
/ Angelman Syndrome - genetics
/ Autism
/ Behavior
/ Biomedical and Life Sciences
/ Child
/ Children
/ Chromosome Disorders - diagnosis
/ Chromosome Disorders - genetics
/ Humans
/ Infant
/ Prader-Willi Syndrome - diagnosis
/ Prader-Willi Syndrome - genetics
/ Trisomy
