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Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
Sólveig Óskarsdóttir1, Erik Boot2, Terrence Blaine Crowley3
1Department of Pediatric Rheumatology and Immunology, Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Insights
Updated guidelines offer comprehensive management strategies for children with 22q11.2 deletion syndrome (22q11.2DS). These evidence-based recommendations cover physical, cognitive, and behavioral health, ensuring optimal care for affected youth.
Area of Science:
- Genetics
- Pediatrics
- Clinical Practice Guidelines
Background:
- 22q11.2 deletion syndrome (22q11.2DS) presents complex health challenges in children and adolescents.
- Existing pediatric clinical practice guidelines required updating to reflect current knowledge.
Purpose of the Study:
- To revise and update the 2011 pediatric clinical practice guidelines for 22q11.2DS management.
- To provide contemporary guidance for the evaluation, surveillance, and management of 22q11.2DS-associated morbidities.
Main Methods:
- Systematic literature search from 1992-2021.
- Expert consensus development involving international clinicians across 24 subspecialties.
- Incorporation of family support organization feedback on perceived needs.
Main Results:
- Review of 2344 full-text articles, with 1545 deemed relevant to clinical care.
- Formulation of multidisciplinary recommendations based on literature and expert opinion.
- Addressing physical, cognitive, behavioral, and psychiatric aspects of 22q11.2DS.
Conclusions:
- These updated guidelines offer contemporary, evidence-informed recommendations for 22q11.2DS management.
- The guidelines emphasize multidisciplinary care, genetic counseling, and psychosocial support.
- Recognizes limitations in the evidence base, positioning recommendations as consensus statements of good practice.
Abstract:
This review aimed to update the clinical practice guidelines for managing children and adolescents 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 selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, 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.
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