Mh. Rogers et al., Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency, J PEDIAT, 139(1), 2001, pp. 44-50
Objective: The objective was to evaluate the cognitive, behavioral, and neu
rodevelopmental function in patients with adenosine deaminase deficient sev
ere combined immunodeficiency (ADA-SCID) and to compare the findings with t
hose of a case control group of patients without ADA-SCID.
Study design: Case-matched pairs of patients with ADA-SCID (n = 11) and pat
ients without ADA-SCID who had undergone bone marrow trans plantation were
recruited. Subjects were assessed by age-appropriate standard tests of inte
lligence, behavior, and neurodevelopment.
Results: Cognitive ability was not significantly different between the 2 gr
oups, but patients with ADA-SCID showed a significant inverse correlation b
etween deoxyadenosinetrisphosphate levels at diagnosis and IQ (P =.048). Be
havioral assessment showed that patients with ADA-SCID functioned in the pa
thologic range on all domains, whereas mean scores for the control group we
re within normal limits. Behavioral impairment in patients with ADX-SCID al
so showed a significant positive correlation with age (P =.026).
Conclusions: Cognitive function in ADA deficiency is adversely affected by
the severity of metabolic derangement at the lime of diagnosis. In addition
, patients with ADA-SCID have significant behavioral abnormalities after tr
ansplantation. These defects are not due to the transplant procedure but re
flect the systemic nature of ADA deficiency. These findings have important
implications for future medical and nonmedical management strategies.