title: Cognitive function in patients with chronic granulomatous disease: a preliminary report.
abstract: Chronic granulomatous disease is an inherited immunodeficiency in which phagocytes fail to generate superoxide and its metabolites, resulting in severe recurrent infections and frequent hospitalizations. Chronic illness and frequent hospitalizations can affect growth and development as well as social and educational opportunities. Since no data have been reported on cognitive functioning in patients with this illness, the authors sought to examine cognitive function in a group of patients with chronic granulomatous disease. A retrospective chart review of 26 patients seen and followed at the National Institutes of Health who had received cognitive testing at the request of parent or staff was performed. Demographic information including medical, psychiatric, and developmental histories was gathered. Six patients (23%) were found to have an IQ of 70 or below, indicative of cognitive deficits, and all of those patients had defects in the membrane-linked cytochrome b558. The prevalence of cognitive deficits in this selected population of chronic granulomatous disease patients was high. The determination of the true distribution of cognitive functioning in the general chronic granulomatous disease population is important, since cognitive deficits have implications for educational planning and potential therapies such as transplantation and gene therapy in children.
authors.affiliation: Department of Psychiatry, Children's National Medical Center, Washington, DC, USA.
authors.forename: Maryland
authors.initials: M
authors.lastname: Pao
authors.forename: Edythe A
authors.initials: EA
authors.lastname: Wiggs
authors.forename: Melissa M
authors.initials: MM
authors.lastname: Anastacio
authors.forename: Jenny
authors.initials: J
authors.lastname: Hyun
authors.forename: Ellen S
authors.initials: ES
authors.lastname: DeCarlo
authors.forename: Judi T
authors.initials: JT
authors.lastname: Miller
authors.forename: Victoria L
authors.initials: VL
authors.lastname: Anderson
authors.forename: Harry L
authors.initials: HL
authors.lastname: Malech
authors.forename: John I
authors.initials: JI
authors.lastname: Gallin
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000150:complications*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D012189:Retrospective Studies; D012720:Severity of Illness Index