Neurophysiologic, neuroimaging and biochemical studies in children and adolescents with Down syndrome
Year: 2011
Type: article
Study design: Observational Study
Abstract: Down syndrome (DS) is one of the most common autosomal mutations. The overexpression of the β-amyloid precursor protein gene, located on chromosome 21, causes an increased production of the specific amyloid. People with DS show early Alzheimer-like dementia. We focused on some aspects involved in pathogenesis of brain accelerated degenerative processes: oxidative stress, the role of cytokines and electrophysiological and neuroimaging changes in children and adolescents with DS. Our results disclosed the disturbances of lipid peroxidation processes increased with age. We found that proinflammatory cytokines: interleukin-2, interleukin-6 and TNF-α may be involved in the pathogenesis of brain accelerated degenerative processes in DS. Quantitative analysis of the REM sleep from DS group disclosed reduction of the power mainly in the alpha when comparing the healthy group. In our other study, we examined a cohort of patients with DS evaluated over a 13-year period at our Department. Incidence of epilepsy in children with DS was higher than in the general population. Good control of seizures was obtained in 40% of children with DS. Quantitative analysis of EEG revealed a poor background brain activity in patients with DS and epilepsy. In the MRI study, we demonstrated a significantly smaller total brain volume, significantly smaller frontal and temporal lobes volumes including significantly smaller hippocampus and amygdale volumes. 1HMRS examinations disclosed the abnormal metabolism of stimulatory amino acids in children with DS.
Source: Child Neurology
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W2113710269