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
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Diseases presenting "multiple domains" symptom

22q11.2 deletion syndrome

holt-oram syndrome

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