2014
DOI: 10.1007/s00431-013-2240-z
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Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times

Abstract: The commonest autosomal deletion, 22q11.2 deletion syndrome (22q11DS) is a multisystem disorder varying greatly in severity and age of identification between affected individuals. Holistic care is best served by a multidisciplinary team, with an anticipatory approach. Priorities tend to change with age, from feeding difficulties, infections and surgery of congenital abnormalities particularly of the heart and velopharynx in infancy and early childhood to longer-term communication, learning, behavioural and men… Show more

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Cited by 69 publications
(74 citation statements)
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References 51 publications
(88 reference statements)
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“…Peer-reviewed expert consensus documents are available for the evaluation and management of patients with 22q11 deletion syndrome (DiGeorge syndrome). 69,70 This is the most common copy-number variation currently being offered through NIPS. Resources for other CNVs may be found in GeneReviews.…”
Section: Provider Resourcesmentioning
confidence: 99%
“…Peer-reviewed expert consensus documents are available for the evaluation and management of patients with 22q11 deletion syndrome (DiGeorge syndrome). 69,70 This is the most common copy-number variation currently being offered through NIPS. Resources for other CNVs may be found in GeneReviews.…”
Section: Provider Resourcesmentioning
confidence: 99%
“…For example, there are clinical management guidelines available for the 22q11.2 deletion syndrome. Screening for specific physical health conditions, including cardiac, renal and immunology investigations, and a comprehensive mental health assessment are recommended (Habel et al., 2014). Such guidelines offer good prospects for early intervention and optimized health care, although they are not yet available for every genetic cause of intellectual disability.…”
Section: Introductionmentioning
confidence: 99%
“…Fendas palatinas abertas ou fendas labiopalatinas uni ou bilaterais são encontradas em cerca de 9 a 15% dos indivíduos, ao passo que fenda labial isolada encontra-se raramente presente em portadores da deleção 22q11.2, ocorrendo em torno de 3% destes (MCDONALD-MCGINN et al, 1997;RYAN et al, 1997;MCDONALD-MCGINN et al, 1999;CUNEO, 2001;REISH et al, 2003;RUITER et al, 2003;ÓSKARSDÓTTIR et al, 2005;HAY, 2007;BASHIR et al, 2008;HABEL et al, 2014;VIEIRA et al, 2014).…”
Section: Anomalias Palatinas E Da Cavidade Oralunclassified
“…A investigação auditiva deve ser realizada com triagem auditiva neonatal e com uma segunda triagem por volta dos cinco anos de idade (HABEL et al, 2014).…”
Section: Anomalias Palatinas E Da Cavidade Oralunclassified
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