Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.

[22q11.2 deletion syndrome]

Children with 22 q 11 .2 deletion syndrome (22 q 11 DS ) present with congenital heart disease (CHD ) and high prevalence of psychiatric disorders and neurocognitive deficits . Although CHD has been implicated in neurodevelopment , its role in the neuropsychiatric outcome in 22 q 11 DS is poorly understood . We investigated whether CHD contributes to the high prevalence of psychiatric disorders and neurocognitive impairments in 22 q 11 DS . Fifty -four children ages 8 -14 years with 22 q 11 DS and 16 age-matched non-deleted children with CHD participated . They were assessed using semi-structured interviews and a Computerized Neurocognitive Battery . CHD status was assessed using available medical records . Prevalence of psychiatric disorders and cognitive profiles were compared among the groups . There were no significant differences between the prevalence of psychiatric disorders in the 22 q 11 DS with and without CHD . In 22 q 11 DS with CHD , the prevalence rates were 41 % anxiety disorders , 37 % ADHD and 71 % psychosis spectrum . In 22 q 11 DS without CHD , the rates were 33 % anxiety disorders , 41 % ADHD and 64 % psychosis spectrum . In comparison , the non-deleted CHD group had lower rates of psychopathology (25 % anxiety disorders , 6 % ADHD , and 13 % psychosis spectrum ). Similarly , the 22 q 11 DS groups , regardless of CHD status , had significantly greater neurocognitive deficits across multiple domains , compared to the CHD-only group . We conclude that CHD in this sample of children with 22 q 11 .2 DS does not have a major impact on the prevalence of psychiatric disorders and is not associated with increased neurocognitive deficits . These findings suggest that the 22 q 11 .2 deletion status itself may confer significant neuropsychiatric vulnerability in this population .

Diseases
Validation

Diseases presenting "heart disease" symptom

22q11.2 deletion syndrome

achondroplasia

acute rheumatic fever

adrenal incidentaloma

child syndrome

classical phenylketonuria

cohen syndrome

congenital diaphragmatic hernia

dentinogenesis imperfecta

esophageal adenocarcinoma

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

omenn syndrome

phenylketonuria

sneddon syndrome

systemic capillary leak syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

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