Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines

• Biogenic amines are low in fraction of children with neurodevelopmental disorders.
• The clinical phenotype is closely linked to biogenic amines profile in CSF.
• Progressive/rigid phenotype carries a high risk of biogenic amines deficiency.
• This phenotype strongly implies the need for biogenic amines analysis in CSF.
• Psychomotor delay with epilepsy and hypotonia is rarely linked to low monoamines.

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.