OBJECTIVE: The objective was to evaluate the cognitive, behavioral, and neurodevelopmental function in patients with adenosine deaminase deficient severe combined immunodeficiency (ADA-SCID) and to compare the findings with those of a case control group of patients without ADA-SCID. STUDY DESIGN: Case-matched pairs of patients with ADA-SCID (n = 11) and patients without ADA-SCID who had undergone bone marrow transplantation were recruited. Subjects were assessed by age-appropriate standard tests of intelligence, behavior, and neurodevelopment. RESULTS: Cognitive ability was not significantly different between the 2 groups, but patients with ADA-SCID showed a significant inverse correlation between deoxyadenosinetrisphosphate levels at diagnosis and IQ (P =.048). Behavioral assessment showed that patients with ADA-SCID functioned in the pathologic range on all domains, whereas mean scores for the control group were within normal limits. Behavioral impairment in patients with ADA-SCID also 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 time of diagnosis. In addition, patients with ADA-SCID have significant behavioral abnormalities after transplantation. These defects are not due to the transplant procedure but reflect the systemic nature of ADA deficiency. These findings have important implications for future medical and nonmedical management strategies.
OBJECTIVE: The objective was to evaluate the cognitive, behavioral, and neurodevelopmental function in patients with adenosine deaminase deficient severe combined immunodeficiency (ADA-SCID) and to compare the findings with those of a case control group of patients without ADA-SCID. STUDY DESIGN: Case-matched pairs of patients with ADA-SCID (n = 11) and patients without ADA-SCID who had undergone bone marrow transplantation were recruited. Subjects were assessed by age-appropriate standard tests of intelligence, behavior, and neurodevelopment. RESULTS: Cognitive ability was not significantly different between the 2 groups, but patients with ADA-SCID showed a significant inverse correlation between deoxyadenosinetrisphosphate levels at diagnosis and IQ (P =.048). Behavioral assessment showed that patients with ADA-SCID functioned in the pathologic range on all domains, whereas mean scores for the control group were within normal limits. Behavioral impairment in patients with ADA-SCID also 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 time of diagnosis. In addition, patients with ADA-SCID have significant behavioral abnormalities after transplantation. These defects are not due to the transplant procedure but reflect the systemic nature of ADA deficiency. These findings have important implications for future medical and nonmedical management strategies.
Authors: Barbara C Engel; Greg M Podsakoff; Joanna L Ireland; E Monika Smogorzewska; Denise A Carbonaro; Kathy Wilson; Ami Shah; Neena Kapoor; Mirna Sweeney; Mark Borchert; Gay M Crooks; Kenneth I Weinberg; Robertson Parkman; Howard M Rosenblatt; Shi-Qi Wu; Michael S Hershfield; Fabio Candotti; Donald B Kohn Journal: Blood Date: 2006-09-14 Impact factor: 22.113
Authors: Maria Pia Cicalese; Francesca Ferrua; Laura Castagnaro; Roberta Pajno; Federica Barzaghi; Stefania Giannelli; Francesca Dionisio; Immacolata Brigida; Marco Bonopane; Miriam Casiraghi; Antonella Tabucchi; Filippo Carlucci; Eyal Grunebaum; Mehdi Adeli; Robbert G Bredius; Jennifer M Puck; Polina Stepensky; Ilhan Tezcan; Katie Rolfe; Erika De Boever; Rickey R Reinhardt; Jonathan Appleby; Fabio Ciceri; Maria Grazia Roncarolo; Alessandro Aiuti Journal: Blood Date: 2016-04-29 Impact factor: 22.113
Authors: H Bobby Gaspar; Alessandro Aiuti; Fulvio Porta; Fabio Candotti; Michael S Hershfield; Luigi D Notarangelo Journal: Blood Date: 2009-07-28 Impact factor: 22.113