title: Neurometabolic testing in developmental delay.
abstract: The goal of this study was to examine the usefulness of neurometabolic testing in patients with unexplained developmental delay. We included 118 patients from ages 3 months to 13 years. The evaluation was conducted according to a protocol that called for stepwise investigations with the intention to minimize unnecessary tests. Clinical and neuroradiologic abnormalities were used as guidelines for the type and extent of the neurometabolic work-up. Based on our results, a diagnosis for a neurometabolic disorder was established in 16 patients (13.6%). Findings regarding abnormal metabolites (amino acids, ammonia, lactate, pyruvate, urine organic acids) did not lead to a diagnosis but to further investigations. Abnormalities in lysosomal enzymes, very-long-chain fatty acids, and urine mucopolysaccharides were definitive in establishing a diagnosis. In conclusion, in children with slowly progressing development with no apparent cause, there is a need for guidelines regarding the type of patients who need to be tested and the kind and extent of neurometabolic diagnostic work-up.
authors.affiliation: Department of Pediatric Neurology, Pendeli Children's Hospital, Athens, Greece. plotinus@otenet.gr
authors.forename: A S
authors.initials: AS
authors.lastname: Papavasiliou
authors.forename: H
authors.initials: H
authors.lastname: Bazigou
authors.forename: E
authors.initials: E
authors.lastname: Paraskevoulakos
authors.forename: C
authors.initials: C
authors.lastname: Kotsalis
mesh_terms: D000293:Adolescent; D001921:Brain / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis / Q000378:metabolism*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male