Internationale richtlijn voor kinderen

Lees de Internationale handreiking voor behandeling van kinderen met 22q11.2 DS uit 2022 (open access).

 

Citation
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

Óskarsdóttir, Sólveig, Erik Boot, Terrence Blaine Crowley, Joanne C.Y. Loo, Jill M. Arganbright, Marco Armando, Adriane L. Baylis, Elemi J. Breetvelt, Rene M. Castelein, Madeline Chadehumbe, Christopher M. Cielo,  Steven de Reuver, Stephan Eliez, Ania M. Fiksinski, Brian J. Forbes, Emily Gallagher, Sarah E. Hopkins, Oksana A. Jackson, Lorraine Levitz-Katz, Gunilla Klingberg, Michele P. Lambert, Bruno Marino, Maria R. Mascarenhas, Julie Moldenhauer, Edward M. Moss, Beata Anna Nowakowska, Ani Orchanian-Cheff, Carolina Putotto, Gabriela M. Repetto, Erica Schindewolf, Maude Schneider, Cynthia B. Solot, Kathleen E. Sullivan, Ann Swillen, Marta Unolt, Jason P. Van Batavia, Claudia Vingerhoets, Jacob Vorstman, Anne S. Bassett, Donna M. McDonald-McGinn
Genetics in Medicine, Volume 25, Issue 3, 100338
https://doi.org/10.1016/j.gim.2022.11.006

Abstract:

This review aimed to update the clinical practice guidelines for managing children and ado- lescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process:
(1) a systematic literature search (1992-2021),
(2) study se- lection and data extraction by clinical experts from 9 different countries, covering 24 sub- specialties, and
(3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs.
Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS- associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.