Res Dev Disabil (2006 Apr 16) [Epub ahead of print]

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

Pueschel SM
Child Development Center, Department of Pediatrics, Rhode Island Hospital, Brown University School of Medicine, Providence, RI, USA
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. A detailed analysis of the data revealed that acetyl-l-carnitine administration did not enhance central nervous system functions and that it did not benefit persons with Down syndrome.
Am J Human Biol 13(6): 721-5 (2001 Nov-Dec)

Plasma carnitine levels in children with Down syndrome

Seven M, Cengiz M, Tuzgen S, Iscan MY
Genetik Arastirma Merkezi, Cerrahpasa Tip Fakultesi, Istanbul Universitesi, Cerrahpasa, Istanbul, Turkey
Carnitine is responsible for several chemical processes, including lipid metabolism, nerve cell conduction, reduction in muscle hypotonia, and limitation in oxidative damage to cells. In patients with Down syndrome (DS), the process of growth is behind that of normal children and neuromuscular control is attained somewhat later. The purpose of this study was to assess variation in levels of carnitine in normal and DS children and the relationship between the amount of carnitine and age. The study involved 30 (15 girls, 15 boys) normal children and 40 (20 girls, 20 boys) DS patients of Turkish ancestry, 6 months to 13 years of age. Carnitine level was determined using Deufel's enzymatic method. Carnitine level was significantly lower in DS patients compared with normal children between 6 months to 5 years of age. Between 5 and 13 years of age, the level of carnitine was about the same in both the normal and DS groups. The results suggest that carnitine level shows a different pattern of age related increase in DS compared to normal children.
Clin Ter 144 (2): 123-7 (1994 Feb)

Effect of the chronic treatment with L-acetylcarnitine in Down's syndrome

De Falco FA, D'Angelo E, Grimaldi G, Scafuro F, Sachez F, Caruso G
Neuropsychologic tests were performed in subjects with Down syndrome in order to assess the effect of a 90-day treatment with L-acetyl-carnitine (LAC). Findings were evaluated statistically (Wilcoxon test) and compared to three further groups of subjects: untreated Down syndrome, mental deficiency due to other cases treated and not treated with LAC (Mann-Whitney U-test). Treated Down syndrome patients showed statistically significant improvements of visual memory and attention both in absolute terms and in comparison with the other groups. No improvement was found in mentally deficient non- Down subjects, so that the favourable effect of LAC appears to be specific for Down patients. In view of the analogies of the pathology and neurochemistry between Down syndrome and Alzheimer degenerative deficiency (deficit of cholinergic transmission) it is suggested that the action of LAC in these pathologies is related to its direct and indirect cholinomimetic effect.