A Cohort Study of Neurodevelopmental Outcome in Children with DiGeorge Syndrome Following Cardiac Surgery

Overview

Journal Arch Dis Child

Specialty Pediatrics

Date 2002 Dec 24

PMID 12495965

Citations 10

Authors

M Maharasingam

I Ostman-Smith

M G Pike

Affiliations

Soon will be listed here.

Abstract

Aims: To examine whether the learning difficulties seen in a proportion of children with DGS are secondary to cardiac pathology and treatment, or a feature of the DGS phenotype.

Methods: Cohort study of all patients with DGS and coexisting cardiac lesions within a region. Ten children with 22q11 deletion were assigned two controls each, matched for age, sex, cardiac lesion, and preoperative hemodynamic status but without DGS. The neurodevelopmental status was evaluated with the Ruth Griffiths test for babies and young children.

Results: Children with the 22q11 deletion showed a wide range of developmental quotient (DQ; mean 71, 95% CI 47 to 95) and subscale scores, but these as a group were significantly lower than those of the control group (DQ 113, 95% CI 108 to 118). Four of the DGS children had DQs below 60. Hypocalcaemia, prolonged postoperative ventilation, and abnormal neurology perioperatively were associated with a low DQ.

Conclusions: A proportion of children with DGS have a very poor developmental outcome following cardiac surgery. This outcome is not attributable to the cardiac condition and its treatment alone, but represents either a pre-existing component of the syndrome or an interaction between the syndrome and its treatment.

Citing Articles

The Outcomes of Cardiac Surgery in Children With DiGeorge Syndrome in a Single Center Experience: A Retrospective Cohort Study.

AlAshgar T, AlDawsari N, AlSanea N, Alsalamah N, AlSugair N, Ardah H Cureus. 2024; 16(2):e55186.

PMID: 38562270 PMC: 10983060. DOI: 10.7759/cureus.55186.

Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects.

Everaert E, Vorstman J, Selten I, Slieker M, Wijnen F, Boerma T J Neurodev Disord. 2023; 15(1):15.

PMID: 37173621 PMC: 10181926. DOI: 10.1186/s11689-023-09484-y.

22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects.

Putotto C, Pugnaloni F, Unolt M, Maiolo S, Trezzi M, Digilio M Children (Basel). 2022; 9(6).

PMID: 35740709 PMC: 9222179. DOI: 10.3390/children9060772.

Surgical Outcomes in Syndromic Tetralogy of Fallot: A Systematic Review and Evidence Quality Assessment.

Athanasiadis D, Mylonas K, Kasparian K, Ziogas I, Vlachopoulou D, Sfyridis P Pediatr Cardiol. 2019; 40(6):1105-1112.

PMID: 31214731 DOI: 10.1007/s00246-019-02133-z.

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

Unolt M, Versacci P, Anaclerio S, Lambiase C, Calcagni G, Trezzi M Am J Med Genet A. 2018; 176(10):2087-2098.

PMID: 29663641 PMC: 6497171. DOI: 10.1002/ajmg.a.38662.

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