title: Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines.
abstract: Disruption of monoamines metabolism leads to diverse manifestations, including developmental, movement and respiratory dysfunctions. We aimed to correlate clinical phenotypes of 55 children with neurodevelopmental disorders with dopamine (HVA) and serotonin (5-HIIA) metabolites in CSF. Decreased level of at least one metabolite was documented in 49.1% patients. Both metabolites were significantly lower in progressive disorder and extrapyramidal syndrome (p<0.05). HVA was significantly lower in hypokinetic and regulatory disorders (p<0.05). In univariate analysis, only progressive course, extrapyramidal syndrome and dystonia were significantly associated with decreased 5-HIAA. In multivariate regression only progressive course remained significant (p=0.005). Progressive disease, extrapyramidal syndrome, dystonia, tremor and rigidity were positively associated with low HVA. In multivariate analysis only: progressive course and rigidity remained significant. Progressive/rigid phenotype carries a high risk of monoamines deficiency, strongly implying need for their analysis. Psychomotor delay with epilepsy and hypotonia is rarely linked to low monoamines level. Irrespective of final diagnosis, different clinical presentations may be associated with impaired monoamines turnover.
authors.affiliation: Department of Clinical and Experimental Neuropathology, Mossakowski Medical Research Centre, Polish Academy of Sciences, ul. Pawińskiego 5, 02-106 Warsaw, Poland; Department of Child Psychiatry, Medical University of Warsaw, ul. Marszalkowska 24, 00-576 Warsaw, Poland. Electronic address: szymanska2@wp.pl.
authors.forename: Krystyna
authors.initials: K
authors.lastname: Szymańska
authors.affiliation: Screening Department, National Institute of Mother and Child, ul. Kasprzaka 17A, 01-211 Warsaw, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kuśmierska
authors.affiliation: Department of Pediatrics, National Institute of Mother and Child, ul. Kasprzaka 17A, 01-211 Warsaw, Poland.
authors.forename: Maria
authors.initials: M
authors.lastname: Nowacka
authors.affiliation: Screening Department, National Institute of Mother and Child, ul. Kasprzaka 17A, 01-211 Warsaw, Poland.
authors.forename: Jolanta
authors.initials: J
authors.lastname: Sykut-Cegielska
authors.affiliation: Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Medical University of Warsaw, ul. Marszalkowska 24, 00-576 Warsaw, Poland.
authors.forename: Urszula
authors.initials: U
authors.lastname: Demkow
mesh_terms: D000293:Adolescent; D000328:Adult; D001679:Biogenic Amines / Q000134:cerebrospinal fluid*; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D016015:Logistic Models; D008297:Male; D015999:Multivariate Analysis; D065886:Neurodevelopmental Disorders / Q000175:diagnosis / Q000503:physiopathology* / Q000628:therapy; D010641:Phenotype; D055815:Young Adult
chemical_list: D001679:Biogenic Amines
keywords: Biogenic amines; Children; Dopamine; Neurodevelopmental syndrome; Phenotype; Serotonin