Folates in Children with Down syndrome and Calorimetry versus Predictive Equations

Abstract

Thirty per cent of our patients were left-handed. Fifty-eight per cent had a low IQ, and 22 of 56 subjects had psychotic disorders (13 of 22 with schizophrenia). Eighteen patients reported at least one seizure in their lifetime, and ten were diagnosed with epilepsy; among them, seven had genetic generalised epilepsy (GGE), and five of seven showed features suggestive of juvenile myoclonic epilepsy (JME). Video-EEG recordings revealed generalised epileptiform abnormalities in 24 of 56 cases. Besides A total of 34 children with hepatosplenomegaly and low β-glucocerebrosidase activity were enrolled to the study and screened for eight common mutations of β-glucocerebrosidase gene. Molecular analysis was performed either by using the mutation’s site-specific restriction endonucleases.