The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.

Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although several hypotheses have been put forward, it is unclear as to whether particular gene loci on chromosome 21 (HSA21) are sufficient to cause DS and its associated features. Here we present a high-resolution genetic map of DS phenotypes based on an analysis of 30 subjects carrying rare segmental trisomies of various regions of HSA21.

Down syndrome: otolaryngological effects of rapid maxillary expansion.

Objective: Phenotypical Down syndrome includes pharyngeal and maxillary hypoplasia and, frequently, constricted maxillary arch with nasal obstruction.

Study Design: This clinical trial assessed the effects of rapid maxillary expansion on ENT disorders in 24 children with Down syndrome randomly allocated to receive either rapid maxillary expansion or not. Each group received ENT and speech therapy assessments before expansion and after the device had been removed.

Voice parameters in children with Down syndrome.

Down syndrome (DS) is the most frequent chromosomal disorder. Commonly, individuals with DS have difficulties with speech and show an unusual quality in the voice. Their phenotypic characteristics include general hypotonia and maxillary hypoplasia with relative macroglossia, and these contribute to particular acoustic alterations.

The effect of acetyl-L-carnitine administration on persons with Down syndrome.

Since previous investigations reported improvements in cognition of patients with dementia after acetyl-L-carnitine therapy and since there is an increased risk for persons with Down syndrome to develop Alzheimer disease, this study was designed to investigate the effect of acetyl-L-carnitine administration on neurological, intellectual, and social functions in adults with Down syndrome. In this double-blind study we enrolled 40 individuals with Down syndrome and administered acetyl-L-carnitine to the study group during a six months period. Specified examinations and psychological tests were given to persons in both the study and control groups at the start of the investigation and at 3, 6, and 9 months.

Markers of oxidative stress in children with Down syndrome.

Background: Persons with Down syndrome have increased vulnerability to oxidative stress caused by overexpression of superoxide dismutase, an antioxidant enzyme coded on chromosome 21. Increased oxidative stress may lead to oxidative damage of important macromolecules. We monitored this damage by measuring levels of different biomarkers of oxidative stress (protein carbonyls and 4-hydroxy-2-nonenal), as well as plasma antioxidant capacity, in children with Down syndrome.