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Vitamin A and carotene values of institutionalized mentally retarded subjects with and without Down's syndrome.
Barden, H. S. U Illinois
Journal of Mental Deficiency Research 1977 Mar Vol 21(1) 63-74
Assessed vitamin A and carotene values of 44 3-34 yr old Down's syndrome, 56 3-35 yr old non-Down's Syndrome mentally retarded, and 40 normal 1-25 yr old Ss. Dietary and environmental uniformity was maintained by utilizing Down's and non-Down's Ss residing in the same institution. Results show that Down's Ss showed vitamin A values that were significantly higher than those of the non-Down's retarded Ss and similar to those of the normal Ss. Carotene values were similar in the Down's and non-Down's retarded groups, but were significantly higher than those of the normal Ss. This difference in carotene is seen as reflecting in part the high level of carotenoid products in the institutional diet. Carotene/vitamin A ratio values are reported, and the possibility that relatively high ratio values reflected a decreased efficiency in converting carotene to vitamin A is discussed. It is suggested that Down's Ss may suffer some impairment in the utilization of vitamin A at its site of action.
Down Syndrome Cell Adhesion Molecule is conserved in mouse and highly expressed in the adult mouse brain.
Barlow GM, Micales B, Lyons GE, Korenberg JR. Department of Medical Genetics, Cedars-Sinai Medical Center and UCLA, Los Angeles CA (USA).
Cytogenet Cell Genet 2001;94(3 4):155-162
Down Syndrome (DS) is a major cause of mental retardation and is associated with characteristic well-defined although subtle brain abnormalities, many of which arise after birth, with particular defects in the cortex, hippocampus and cerebellum. The neural cell adhesion molecule DSCAM (Down syndrome cell adhesion molecule) maps to 21q22.2[right arrow]q22.3, a region associated with DS mental retardation, and is expressed largely in the neurons of the central and peripheral nervous systems during development. In order to evaluate the contribution of DSCAM to postnatal morphogenetic and cognitive processes, we have analyzed the expression of the mouse DSCAM homolog, Dscam, in the adult mouse brain from 1 through 21 months of age. We have found that Dscam is widely expressed in the brain throughout adult life, with strongest levels in the cortex, the mitral and granular layers of the olfactory bulb, the granule cells of the dentate gyrus and the pyramidal cells of the CA1, CA2 and CA3 regions, the ventroposterior lateral nuclei of the thalamus, and in the Purkinje cells of the cerebellum. Dscam is also expressed ventrally in the adult spinal cord. Given the homology of DSCAM to cell adhesion molecules involved in development and synaptic plasticity, and its demonstrated role in axon guidance, we propose that DSCAM overexpression contributes not only to the structural defects seen in these regions of the DS brain, but also to the defects of learning and memory seen in adults with DS. Copyright 2002 S. Karger AG, Basel
Effects of a single transdermal nicotine dose on cognitive performance in adults with Down syndrome.
Bernert G, Sustrova M, Sovcikova E, Seidl R, Lubec G. Department of Pediatrics, University of Vienna, Austria.
J Neural Transm Suppl 2001;(61):237-45
Subjects with Down syndrome exhibit various types of cognitive impairment. Neuropathological and neurochemical studies revealed similarities between Down syndrome and Alzheimer's disease, cholinergic deficits being the most consistent findings. To explore the potential for cognitive enhancement utilizing nicotinic stimulation, 8 patients with Down syndrome (aged 18.5-31 years) received placebo and a single dose of transdermal nicotine (5 mg patch) over 2h in a single-blind, within-subjects repeated measures design. Auditory event-related potentials (ERPs) and neuropsychological tests, comprising digit symbol performance subtest from WAIS-R and the Frankfurt Attention Inventory (FAIR) were performed. Effects of nicotine administration in Down syndrome individuals were a decrease of ERP-P3 latency in 7 of 8 subjects (electrode position Cz: 386.9+/-24.0 ms vs. 363.1+/-26.9.2 ms, placebo vs. nicotine, respectively; P = 0.058) and an increase of ERP-P3 amplitude in 6 of 8 subjects (electrode position Cz: 17.4+/-5.5 vs. 18.0+/-4.5 microV, placebo vs. nicotine respectively; P = 0.725). Neuropsychological tests exhibited improvements in digit symbol performance subtest in 4 of 8 subjects and 7 of 8 subjects in the Frankfurt Attention Inventory. These results suggest that stimulating central nicotinic receptors might have an acute cognitive benefit in young adult Down syndrome subjects.
Quantitative comparison of radial cell columns in children with Down's syndrome and controls.
Buxhoeveden D, Fobbs A, Roy E, Casanova M. The Medical College of Georgia and Downtown VAMC, Augusta, Georgia, USA.
J Intellect Disabil Res 2002 Jan;46(Pt 1):76-81
No one has examined the configuration of the minicolumns in Down's syndrome (DS) brains even though these are a basic functional unit of the cortex. In the present study, the authors used computerized imaging to examine minicolumns in the posterior superior temporal gyrus in both the brains of patients with DS and normal controls. They compared the brains of children aged 4 and 6 years with those of adults for both people with DS and the normal population. Columns in the brains of two DS children aged 4 and 6 years were almost the same size as those of the adults with DS. The neuropil space in the periphery of the columns was also considerably wider. In contrast, minicolumns in aged-matched control children were smaller, both relatively and absolutely, when compared to the mean size of adult columns. The size of the minicolumns in the normal children apparently corresponded to the overall brain size, whereas the large columns in children with DS appeared to be independent of brain size, at least in area Tpt. This seems to reflect a rapid ageing process that is striking when compared to normal controls. Columns in adults with DS were large and less cell dense, while brain volumes were significantly smaller than in controls. This combination suggests reduced neuronal complexity based on a decrease in processing units, which supports previous findings of decreased cell numbers and synaptic diminution in DS brains.
Reactive oxygen metabolites and prooxidant status in children with Down's syndrome.
Carratelli M, Porcaro L, Ruscica M, De Simone E, Bertelli AA, Corsi MM. Diacron S.r.l., Diagnostic Division, Grosseto, Italy.
Int J Clin Pharmacol Res 2001;21(2):79-84
Children with Down's syndrome suffer many diseases among which cardiovascular diseases, increased susceptibility to infections, leukemia, endocrine alterations, immune defects, nutritional disturbance and mental retardation have clinical relevance. It has been suggested that the pathogenesis of Down's syndrome involves reactive oxygen species arising from a mutation in gene encoding, which disproportionately elevates superoxide dismutase activity. Reactive oxygen species and total antioxidant capacity were evaluated using two new spectrophotometric methods in a selected group of 40 children with Down's syndrome and in 20 apparently healthy children used as controls. Reactive oxygen species were significantly higher (< 0.05) in children with Down's syndrome than in controls: 452 (+/- 72) U.Carr vs. 270 (+/- 66) U.Carr respectively. Total antioxidant capacity was significantly higher (< 0.05) in controls than in children with Down's syndrome: 380 (+/- 52) micromol hypochlorous acid (HCLO)/ml vs. 281 (+/- 33) micromol HCLO/ml, respectively. In fact, thiol groups (sulfhydryl) were significantly higher (< 0.05) in controls than in children with Down's syndrome: 644 (+/- 78) micromol/l vs. 462 (+/- 54) micromol/l, respectively Our data show how to simply measure chemical indices of oxidative status in serum samples from children with Down's syndrome. We determined the plasmatic activities of reactive oxygen metabolites and oxidative defense molecules. Accumulated macromolecular damage may be one of the causes of some of the abnormalities that are considered part of the syndrome. Therefore, children with Down's syndrome have to cope with a significant prooxidant environment. Oxidative stress causes alterations such as atherosclerosis, early aging, immunological default and neurologic disorders in Down's syndrome patients. The new test available for measuring reactive oxygen species in serum proved to be reliable and useful as an early marker of tissue damage.
A double blind study of vitamin B-sub-6 in Down's syndrome infants: I. Clinical and biochemical results.
Coleman, Mary et al Georgetown U School of Medicine
Journal of Mental Deficiency Research 1985 Sep Vol 29(3) 233-240
19 infants with Down's Syndrome participated in a double-blind study of the clinical effects of pharmacological doses of vitamin B-sub-6 administration, starting under 8 wks of age and continuing until 3 yrs of age. 10 Ss received the vitamin and 9 the placebo. No statistically significant differences were found between the 2 groups in mental age, height, weight, cranial circumference, or tongue protrusion. Vitamin B-sub-6 significantly elevated whole blood 5-hydroxytryptamine during the 1st yr. A study of side effects conducted on a larger open population of 400 Down's Syndrome patients (from infants to aged 12 yrs) found vitamin B-sub-6 to be relatively safe when administered over long periods of time, with photosensitive blisters as the major complication.
Memory training for children with Down syndrome.
Conners FA, Rosenquist CJ, Taylor LA. University of Alabama, USA. fconners@bama.ua.edu
Downs Syndr Res Pract 2001 Oct;7(1):25-33
One well-established fact concerning cognitive and language development in individuals with Down syndrome is that working memory is particularly poor, with auditory working memory worse than visual working memory. Working memory serves the functions of control, regulation, and active maintenance of information and is critical in daily complex cognitive activities. Thus, there is a strong need to find effective and practical interventions targeted at improving working memory in individuals with Down syndrome. The present paper reviews research on rehearsal training and concludes that it can be used successfully to increase working memory in individuals with Down syndrome. However, there are still questions about whether auditory working memory can be improved reliably, whether improvement can be maintained over the long term, and whether improvement exists beyond any effect of increased attention. We describe our in-progress study which addresses these concerns.
A double blind study of vitamin B-sub-6 in Down's syndrome infants: II. Cortical auditory evoked potentials.
Frager, Joseph; Barnet, Ann; Weiss, Ira; Coleman, Mary Montefiore Hosp & Medical Ctr, Dept of Medicine, New York, NY
Journal of Mental Deficiency Research 1985 Sep Vol 29(3) 241-246
Recorded cortical auditory evoked potentials (CAEPs) at 1 and at 3 yrs of age in 19 children with Down's Syndrome participating in a double-blind trial of vitamin B-sub-6 and placebo that was begun in early infancy and continued for 3 yrs. CAEPs have previously been shown to have abnormally high amplitude in Down's Syndrome patients. The CAEPs of the Ss in the B-sub-6-treated and placebo groups were compared. Only minor effects were found in the CAEPs recorded at 1 yr of age. At 3 yrs of age, however, comparison of the B-sub-6-treated group and the placebo group revealed significant differences in both amplitudes and latencies of CAEP components. Peak-to-peak amplitudes of prominent components were significantly lower in B-sub-6-treated Ss than in their placebo controls. Amplitude correlated in some cases with whole blood serotonin levels. Latencies for several prominent evoked peaks were significantly longer in B-sub-6-treated Ss. Findings suggest a difference in neurodevelopmental trajectories that seems to be a pharmacological effect of B-sub-6 administration. (17 ref)
[Hearing Disorders in Children with Down's Syndrome] [Article in German]
Hildmann A, Hildmann H, KeBler A. Univ. Hals-Nasen-Ohren-Klinik der Ruhr-Universitat Bochum (Direktor: Prof. Dr. med. H. Hildmann).
Laryngorhinootologie 2002 Jan;81(1):3-7
Abstract.Among 4947 children in an outpatients unit for hearing disorders 102 children with Down's syndrome were seen and checked for hearing disorders. 57 had hearing deficiencies, 50 (88 %) conductive hearing loss, 4 (7 %) combined and 3 (5 %) a sensory neural hearing loss. Compared to other publications the number of very young children was very high. 32 patients under two years of age had a hearing disorder. The results underline the necessity of early diagnosis and follow up also in children with normal reactions during the first presentation. Early diagnosis enables early treatment, conservative, surgical or fitting with hearing aids, especially important in the rehabilitation of these children. Hearing aids may be given temporarily imploring communication during the development of the child.
Alzheimer's disease and Down's syndrome: roles of APP, trophic factors and ACh.
Isacson O, Seo H, Lin L, Albeck D, Granholm AC. Neuroregeneration Laboratory, McLean Hospital, Program in Neuroscience and Dept of Neurology, Harvard Medical School, Belmont, MA 02478-9106, USA. isacson@helix.mgh.harvard.edu
Trends Neurosci 2002 Feb;25(2):79-84
Recent therapeutic investigations of Alzheimer's disease (AD) have been guided by two seemingly opposed hypotheses: the amyloid cascade theory, which favors the amyloid plaques as the cause of AD; and the cholinergic theory, which favors cholinergic neuron loss as the cause. New investigations indicate that the synthesis and processing of the amyloid precursor protein (APP) is linked to the trophic actions of nerve growth factor. A pathological cascade in both AD- and Down's syndrome-related memory loss could be triggered by alterations in APP processing or ACh-mediated neuronal function, or both, which in turn trigger the overexpression of amyloid beta, synaptic malfunction and trophic factor loss in target regions. This eventually leads to synaptic and dendritic loss with age.
Vitamin E and Alzheimer's disease in subjects with Down's syndrome.
Jackson, C. V.; Holland, A. J.; Williams, C. A.; Dickerson, J. W. U Surrey Div of Nutrition & Food Science, Guildford, England
Journal of Mental Deficiency Research 1988 Dec Vol 32(6) 479-484
Tested the hypothesis that a low level of serum Vitamin E would be associated with a likelihood of dementia in 24 Ss (aged 30+ yrs) with Down's syndrome. Blood samples were drawn, and evidence of deterioration in self-care skills was assessed. Nine Ss showed evidence of Alzheimer's disease (AD), and 9 did not. Plasma Vitamin E levels measured in Ss with AD were lower than in Ss without AD. It is suggested that there may be an interaction between risk of AD and the protective action of Vitamin E.
Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome.
James SJ, Pogribna M, Pogribny IP, Melnyk S, Hine RJ, Gibson JB, Yi P, Tafoya DL, Swenson DH, Wilson VL, Gaylor DW. Food and Drug Administration-National Center for Toxicological Research, the Division of Biochemical Toxicology, Jefferson, AR 72079,USA. jjames@nctr.fda.gov
Am J Clin Nutr 1999 Oct;70(4):495-501
BACKGROUND: Down syndrome, or trisomy 21, is a complex genetic disease resulting from the presence of 3 copies of chromosome 21. The origin of the extra chromosome is maternal in 95% of cases and is due to the failure of normal chromosomal segregation during meiosis. Although advanced maternal age is a major risk factor for trisomy 21, most children with Down syndrome are born to mothers < 30 y of age. OBJECTIVE: On the basis of evidence that abnormal folate and methyl metabolism can lead to DNA hypomethylation and abnormal chromosomal segregation, we hypothesized that the C-to-T substitution at nucleotide 677 (677C < T) mutation of the methylenetetrahydrofolate reductase (MTHFR) gene may be a risk factor for maternal meiotic nondisjunction and Down syndrome in young mothers. DESIGN: The frequency of the MTHFR 677C < T mutation was evaluated in 57 mothers of children with Down syndrome and in 50 age-matched control mothers. Ratios of plasma homocysteine to methionine and lymphocyte methotrexate cytotoxicity were measured as indicators of functional folate status. RESULTS: A significant increase in plasma homocysteine concentrations and lymphocyte methotrexate cytotoxicity was observed in the mothers of children with Down syndrome, consistent with abnormal folate and methyl metabolism. Mothers with the 677C < T mutation had a 2.6-fold higher risk of having a child with Down syndrome than did mothers without the T substitution (odds ratio: 2.6; 95% CI: 1.2, 5.8; P < 0.03). CONCLUSION: The results of this initial study indicate that folate metabolism is abnormal in mothers of children with Down syndrome and that this may be explained, in part, by a mutation in the MTHFR gene.
Carbohydrate handling enzymes in fetal Down syndrome brain.
Kitzmueller E, Greber S, Fountoulakis M, Lubec G. Department of Pediatrics, University of Vienna, Austria.
J Neural Transm Suppl 2001;(61):203-10
Impaired glucose metabolism in adult Down Syndrome (DS) has been well-documented in vivo and information on the underlying biochemical defect i.e. aberrant glucose handling enzymes is already available. Nothing is known on carbohydrate handling, however, in early life of DS patients, when no secondary phenomena as e.g. Alzheimer-like neuropathology occur in the brain yet. We therefore determined a series of key enzymes of carbohydrate metabolism in fetal control and DS brain during the early second trimenon. We used two-dimensional electrophoresis with subsequent MALDI characterization and specific software for quantification of protein spots. We observed comparable levels of phosphoglycerate mutase, phosphoglycerate kinase 1; fructose-biphosphate aldolase A, fructose bisphosphate aldolase C; ribose-phosphate pyrophosphokinase 1; D-phosphoglycerate dehydrogenase, 6-phosphogluconolactonase; aflatoxin B1 aldehyde reductase 1, aldose reductase; inosine-5'-monophosphate dehydrogenase 2; galactokinase, in brain of fetal controls and DS. We conclude that our biochemical findings point to the fact that DS patients start early life with unchanged glucose handling, pentose phosphate shunt, glycolysis, sugar aldehyde, guanine nucleotide- and ribonucleoside formation and galactose metabolism.
Olfactory impairment increases as a function of age in persons with Down syndrome.
Nijjar RK, Murphy C. Department of Psychology, San Diego State University, San Diego, CA, USA
Neurobiol Aging 2002 Jan;23(1):65-73
Neuropathology similar to that found in the brains of patients with Alzheimer's disease (AD) has consistently been observed in older individuals with Down syndrome (DS) and this neuropathology is particularly prevalent in areas involved in olfaction. The present study investigated the effects of age on the expression of olfactory impairment in Down syndrome to address the hypothesis that older adults with DS show greater deficits in olfactory function compared with younger persons with DS and compared with age and IQ matched control groups. Between group differences showed that persons with DS had significant deficits in olfactory functioning compared to the two control groups. Further, within the DS group, older adults performed more poorly than the young adults or children. Results support the hypothesis that in a group of persons at risk for AD because of DS, olfactory impairment is greater in older individuals, suggesting progressive impairment over time. Deficits in olfactory function may be useful in signalling incipient dementia in DS.
Enhancement of lipopolysaccharide-stimulated cyclooxygenase-2 mRNA expression and prostaglandin E(2) production in gingival fibroblasts from individuals with Down syndrome.
Otsuka Y, Ito M, Yamaguchi M, Saito S, Uesu K, Kasai K, Abiko Y, Mega J. Department of Dentistry for the Disabled, Nihon University School of Dentistry at Matsudo, 870-1, Sakaecho-Nishi 2, Matsudo, 271-8587, Chiba, Japan
Mech Ageing Dev 2002 Mar 31;123(6):663-74
It is well known that Down syndrome (DS) is a premature ageing syndrome. Periodontal disease in individuals with DS develops rapidly and extensively in a relatively younger age bracket compared with that in healthy controls. The mechanisms involved in the periodontal inflammatory processes in DS patients are not fully understood. In the present study, the non-inflamed gingival fibroblasts isolated from seven patients with DS (DGF) and seven healthy controls (NDGF) were stimulated with lipopolysaccharide (LPS) derived from Actinobacillus actinomycetemcomitans (A. a.). We measured the level of prostaglandin E(2) (PGE(2)) production by DGF and NDGF by radioimmunoassay, and also measured the mRNA expression of cyclooxygenase-1 (COX-1) and cyclooxygenase-2 (COX-2) by using the real-time PCR method. We found the higher levels of LPS-stimulated COX-2 mRNA expression and PGE(2) production in DGF when compared with those in NDGF. This study may indicate that overexpression of LPS-stimulated COX-2 induced a greater ability of DGF to produce PGE(2), and that these phenomena may be responsible for the severer periodontal disease in DS patients.
Homocysteine metabolism in children with Down syndrome: in vitro modulation.
Pogribna M, Melnyk S, Pogribny I, Chango A, Yi P, James SJ. Division of Biochemical Toxicology, Food and Drug Administration, National Center for Toxicological Research, Jefferson, AR 72079, USA.
Am J Hum Genet 2001 Jul;69(1):88-95
The gene for cystathionine beta-synthase (CBS) is located on chromosome 21 and is overexpressed in children with Down syndrome (DS), or trisomy 21. The dual purpose of the present study was to evaluate the impact of overexpression of the CBS gene on homocysteine metabolism in children with DS and to determine whether the supplementation of trisomy 21 lymphoblasts in vitro with selected nutrients would shift the genetically induced metabolic imbalance. Plasma samples were obtained from 42 children with karyotypically confirmed full trisomy 21 and from 36 normal siblings (mean age 7.4 years). Metabolites involved in homocysteine metabolism were measured and compared to those of normal siblings used as controls. Lymphocyte DNA methylation status was determined as a functional endpoint. The results indicated that plasma levels of homocysteine, methionine, S-adenosylhomocysteine, and S-adenosylmethionine were all significantly decreased in children with DS and that their lymphocyte DNA was hypermethylated relative to that in normal siblings. Plasma levels of cystathionine and cysteine were significantly increased, consistent with an increase in CBS activity. Plasma glutathione levels were significantly reduced in the children with DS and may reflect an increase in oxidative stress due to the overexpression of the superoxide dismutase gene, also located on chromosome 21. The addition of methionine, folinic acid, methyl-B(12), thymidine, or dimethylglycine to the cultured trisomy 21 lymphoblastoid cells improved the metabolic profile in vitro. The increased activity of CBS in children with DS significantly alters homocysteine metabolism such that the folate-dependent resynthesis of methionine is compromised. The decreased availability of homocysteine promotes the well-established "folate trap," creating a functional folate deficiency that may contribute to the metabolic pathology of this complex genetic disorder.
Down Syndrome: Treatment and Care 1982.
Schmid, F.
Aschaffenburg, Germany: Municipal Pediatric Clinic.
No abstract available.
Cell Therapy: A New Dimension of Medicine
Schmid, F.
1983, p. 65. Thoune, Switzerland: Ott.
No abstract available.
[Studies on the state of vitamins B1, B2 and B6 in Down's syndrome] [Article in German]
Schmid F, Christeller S, Rehm W.
Fortschr Med 1975 Sep 11;93(25):1170-2
In 110 children-between 0-16 years of age-, 90 children with Down-syndrome and 20 controls the following metabolic parameter were analyzed: ETK (vitamin-B1-activating coefficient), EGR (vitamin B2), P-5'-P, EGOT (vitamin B6), GOT, GPT, pH, K, Na, Ca, Cl, uric-acid (HS). Among some important correlations between the different parameters it could be demonstrated-for the first time to our knowledge-that in Mongoloids a disturbance of the vitamin-B1-metabolism exists, certified by the so-called transketolase-test.
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. mehseven@istanbul.edu.tr
Am J Human Biol 2001 Nov-Dec;13(6):721-5
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. Published 2001 Wiley-Liss, Inc.
Hearing loss in children with Down syndrome.
Shott SR, Joseph A, Heithaus D. Department of Pediatric Otolaryngology, Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. shots0@chmcc.org
Int J Pediatr Otorhinolaryngol 2001 Dec 1;61(3):199-205
OBJECTIVE: Previous studies report a 38-78% incidence of hearing loss in children with Down syndrome (DS). The purpose of this study was to establish more up to date information about hearing loss in children with DS. METHODS: A 5-year longitudinal study following the otolaryngologic problems seen in children with DS was initiated in February, 1999 at the Children's Hospital Medical Center in Cincinnati, OH. Aggressive, 'state of the art' treatment, both medical and surgical, was provided to a group of children, (n=48), all of whom were entered into the study at an age under 2 years. Specific interventions and treatments were reviewed in regards to following and treating the children's chronic ear disease. Hearing level results at the end of the first year of the study were evaluated in this publication. This includes both pre-treatment and post-treatment audiologic results. RESULTS: After treatment of easily reversible hearing loss from chronic otitis media, either with medical or surgical treatment with PET's, 98% of the children had normal hearing levels. Only two children had residual mild hearing losses after treatment interventions. CONCLUSION: Aggressive, meticulous and compulsive diagnosis and treatment of chronic ear disease in children with DS, started soon after birth, provides significantly improved hearing levels than reported previously.
Fluoride 1988; 2: 61-73
Takahashi, K.
(http://www.fluoride-journal.com/98-31-2/31261-73.htm).
Thyroid dysfunction in children with Down's syndrome.
Tuysuz B, Beker DB. Department of Paediatrics, Cerrahpasa Medical Faculty, University of Istanbul, Turkey. beyhantuysuz@yahoo.com
Acta Paediatr 2001 Dec;90(12):1389-93
Thyroid function tests were carried out on 320 children with Down's syndrome aged between 5 d and 10 y. Thyroid function was normal in 230 patients (71.9%) and abnormal in 90 (28.1%). Six patients (1.8%) had primary congenital hypothyroidism, one patient had acquired hypothyroidism and two had transient hyperthyrotropinaemia of the newborn. Sixteen of the remaining 81 patients (25.3%) had compensated hypothyroidism with increased thyroid-stimulating hormone (TSH) levels (11-20 mU l(-1)). Their T4 levels were found to be either normal or close to the lower limit of normal. These cases were started on thyroxine therapy. Sixty-five of the 81 patients had a mild compensated hypothyroidism with mild TSH elevation (6-10 mU l(-1)). None of the patients had hyperthyroidism. The antithyroid antibodies were positive in the acquired hypothyroidism case. Conclusion: The prevalence of congenital hypothyroidism was 1.8% in children with Down's syndrome while 25.3% of them had compensated hypothyroidism. It is suggested that Down's syndrome patients with normal thyroid functions and those with compensated hypothyroidism should be followed annually and every 3 mo, respectively. Besides congenital hypothyroidism cases, those with TSH levels between 11 and 20 mU l(-1) may benefit from treatment with low-dose thyroxine.
Dementia in people with Down's syndrome.
Tyrrell J, Cosgrave M, McCarron M, McPherson J, Calvert J, Kelly A, McLaughlin M, Gill M, Lawlor BA. Department of Psychiatry, Trinity College Dublin, Dublin 2, Ireland. jftyrrel@tcd.ie
Int J Geriatr Psychiatry 2001 Dec;16(12):1168-74
OBJECTIVES: To determine the prevalence of dementia in an Irish sample of people with Down's syndrome (DS) and to examine associated clinical characteristics of dementia in this group. METHOD: 285 people with DS (Age 35-74 years, mean age +/- SD 46.5 +/- 8.2 years) were included in this cross-sectional study. The diagnosis of dementia was made using modified DSMIV criteria. Cognitive tests used were the Down's syndrome Mental Status Examination (DSMSE), Test for Severe Impairment (TSI) and adaptive function was measured by the Daily Living Skills Questionnaire (DLSQ). RESULTS: The overall prevalence of dementia was 13.3%. The presence of dementia was associated with epilepsy, myoclonus, and head injury. The demented DS group were significantly older (n = 38, mean age 54.7 years SD +/- 7.5) than the non-demented (n = 246, mean age 45.6, SD +/- 7.3). The TSI and DLSQ had a satisfactory spread of scores without 'floor' or 'ceiling' effects in people with moderate and severe learning disability. Median scores in demented versus the non-demented groups were significantly different for each measure of function. CONCLUSIONS: Dementia had a prevalence of 13.3% and occurred at a mean age of 54.7 years. The combination of DLSQ score, age and presence of epilepsy were found to predict presence of dementia. Copyright 2001 John Wiley & Sons, Ltd.
The use of 5-HTP in the treatment of Down's syndrome.
Weise, P., Koch, R., Shaw, K.N., Rosenfeld, M.J.
Pediatrics 1974 Aug; 54(2): 165-8.
No abstract available.
Xylose absorption in Down's syndrome.
Williams, Celia A. et al U Surrey, Div of Nutrition & Food Science, Guildford, England
Journal of Mental Deficiency Research 1985 Jun Vol 29(2) 173-177
Conducted a standard xylose absorption test in 14 25-61 yr old Ss with Down's syndrome (DS) and in 14 sex- and age-matched mentally retarded controls; another 30 14-57 yr olds with DS were similarly investigated. Mentally retarded Ss as a group had impaired xylose absorption, and the matched DS Ss had a significantly reduced xylose absorption when compared to the mentally retarded controls. It is suggested that the malabsorption plays a role in a number of the vitamin and mineral deficiencies found in people with DS.
Glutamine: from basic science to clinical applications.
Ziegler TR, Szeszycki EE, Estivariz CF, Puckett AB, Leader LM. Department of Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
Nutrition 1996 Nov-Dec;12(11-12 Suppl):S68-70
Glutamine (Gln) has been one of the most intensively studied nutrients in the field of nutrition support in recent years. Interest in provision of Gln derives from animal studies in models of catabolic stress, primarily in rats. Enteral or parenteral Gln supplementation improved organ function and/or survival in most of these investigations. These studies have also supported the concept that Gln is a critical nutrient for the gut mucosa and immune cells. Recent molecular and protein chemistry studies are beginning to define the basic mechanism involved in Gln action in the gut, liver and other cells and organs. Double?blind prospective clinical investigations to date suggest that Gln?enriched parenteral or enteral feedings are generally safe and effective in catabolic patients. Intravenous Gln (either as the L?amino acid or as Gln?dipeptides) has been shown to increase plasma Gln levels, exert protein anabolic effects, improve gut structure and/or function and reduce important indices of morbidity, including infection rates and length of hospital stay in selected patients subgroups. Additional blinded studies of Gln administration in catabolic patients and increasing clinical experience with Gln?enriched nutrient products will determine whether routine Gln supplementation should be given in nutrition support, and to whom. Taken together, the data obtained over the past decade or so of intensive research on Gln nutrition demonstrate that this amino acid is an important dietary nutrient and is probably conditionally essential in humans in certain catabolic conditions. |