The relationship between physical signs of aging and social functioning in persons with Down syndrome in Japan

Background: In Japan, there have been no substantial studies of social function and physical aging in adults with Down syndrome. The aim of the present study was to examine social functions (movement, conversation, and daily living skills) and physical signs of aging in adults with Down syndrome in Japan, and to analyze the relationship between changes in social function and age.Methods: A cross-sectional survey of persons with Down syndrome who were 15 years of age or older (15-65 years old) was conducted. The survey was conducted in patients associations, institutes, group homes, and workplaces from July to December 2009. Primary caregivers, such as family members and institute staff, were asked to complete a questionnaire on the subjects’ living situation, movement ability, conversational skills, daily living skills, and 10 characteristics of physical aging at the time of the survey.Results: The total number of subjects was 315. Subjects’ movement ability, conversational ability, and daily living skills declined as a function of age. Canities (40.6%) were the most prevalent physical sign of aging, followed by missing teeth, hump back, and skin wrinkling. Further, physical aging was related to a decline in social functions (p < 0.001).Conclusion: The present study showed that adults with Down syndrome exhibit signs of physical aging earlier than do the general population, and that physical aging is associated with social functioning. Thus, the appearance of physical aging might indicate a decline in social functioning

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

The Kabuki syndrome (KS, OMIM 147920), also known as the Niikawa-Kuroki syndrome, is a multiple congenital anomaly/mental retardation syndrome characterized by a distinct facial appearance. The cause of KS has been unidentified, even by whole-genome scan with array comparative genomic hybridization (CGH). In recent years, high-resolution oligonucleotide array technologies have enabled us to detect fine copy number alterations. In 17 patients with KS, molecular karyotyping was carried out with GeneChip 250K NspI array (Affymetrix) and Copy Number Analyser for GeneChip (CNAG). It showed seven copy number alterations, three deleted regions and four duplicated regions among the patients, with the exception of registered copy number variants (CNVs). Among the seven loci, only the region of 9q21.11-q21.12 ( approximately 1.27 Mb) involved coding genes, namely, transient receptor potential cation channel, subfamily M, member 3 (TRPM3), Kruppel-like factor 9 (KLF9), structural maintenance of chromosomes protein 5 (SMC5) and MAM domain containing 2 (MAMDC2). Mutation screening for the genes detected 10 base substitutions consisting of seven single-nucleotide polymorphisms (SNPs) and three silent mutations in 41 patients with KS. Our study could not show the causative genes for KS, but the locus of 9q21.11-q21.12, in association with a cleft palate, may contribute to the manifestation of KS in the patient. As various platforms on oligonucleotide arrays have been developed, higher resolution platforms will need to be applied to search tiny genomic rearrangements in patients with KS.Journal of Human Genetics (2009) 54, 304-309; doi:10.1038/jhg.2009.30; published online 03 April 2009

Age-related changes in abdominal fat distribution in Japanese adults in the general population.

Objective Early studies have indicated that body fat shifts from peripheral stores to central stores with aging. The objective of this study was to investigate age-related changes in abdominal fat distribution of Japanese men and women of the general population over a wide range of body mass indices (BMI). Methods A total of 2,220 non-diabetic, apparently healthy Japanese adults (1,240 men and 980 women; age range 40-69 years) were included in the study sample. All subjects underwent a CT scan at the level of the umbilicus, and the areas of visceral adipose tissue (AT) and subcutaneous AT were quantified. Results When the subjects were stratified by BMI into 18.5-23.0 kg/m2, 23.0-27.5 kg/m2, and 27.5 kg/m2 or higher, visceral AT was positively correlated with age in all of the BMI strata in both genders (p<0.01). In contrast, subcutaneous AT was negatively correlated with age in men with BMIs in excess of 23.0 kg/m2 (p< 0.01) and not at all in women. The mean levels of subcutaneous AT were over 2-fold greater than visceral AT in women aged 60-69 years in any BMI stratum. Conclusion In Japanese men and women, visceral AT was increased with age in all BMI strata in both genders, whereas subcutaneous AT was decreased with age in men with BMIs in excess of 23.0 kg/m2 and not at all in women. Even with these age-related changes in abdominal fat distribution, women retained the subcutaneous-dominant type of fat distribution up to 70 years. © 2011 The Japanese Society of Internal Medicine

Diabetes progression from "high-normal" glucose in school teachers

Objective High-normal, the intermediate category between normal fasting glucose (NFG) and impaired fasting glucose (IFG), was introduced in the criteria of the disordered glucose metabolism in 2008. The aim of this study was to investigate the risk for future incidence of type 2 diabetes of the subjects with high-normal and to examine how other metabolic variables could be useful for their risk stratification. Methods A historical cohort study was conducted from 2001 to 2008, inclusive, in 4,165 non-diabetic employees at public schools (2,229 men and 1,936 women; age 45.8±5.9 years, range 25-55 years). They were classified at baseline as NFG with fasting plasma glucose (FPG)<100 mg/dL, high-normal with FPG 100-109 mg/dL, and IFG with FPG 110-125 mg/dL. The incidence of type 2 diabetes (defined either by FPG 126 mg/dL or by receiving treatments) was measured. Results The cumulative incidence during a mean follow-up of 5.1 years were 16/3,364 (0.5%), 40/613 (6.5%), and 53/188 (28.2%) in subjects with NFG, high-normal, and IFG, respectively. Multivariate-adjusted odds ratios for the incidence were still significant both in high-normal and IFG compared to NFG. Body mass index (BMI) and alanine aminotransaminase (ALT) were associated with the incidence of type 2 diabetes independently of FPG categories (p<0.05). Conclusion The future incidence of type 2 diabetes in subjects with high-normal was significantly higher than in those with NFG in this population. BMI and ALT can improve risk stratification in high-normal subjects. © 2010 The Japanese Society of Internal Medicine

The relationship between physical signs of aging and social functioning in persons with Down syndrome in Japan

Background: In Japan, there have been no substantial studies of social function and physical aging in adults with Down syndrome. The aim of the present study was to examine social functions (movement, conversation, and daily living skills) and physical signs of aging in adults with Down syndrome in Japan, and to analyze the relationship between changes in social function and age. Methods: A cross-sectional survey of persons with Down syndrome who were 15 years of age or older (15-65 years old) was conducted. The survey was conducted in patients associations, institutes, group homes, and workplaces from July to December 2009. Primary caregivers, such as family members and institute staff, were asked to complete a questionnaire on the subjects’ living situation, movement ability, conversational skills, daily living skills, and 10 characteristics of physical aging at the time of the survey. Results: The total number of subjects was 315. Subjects’ movement ability, conversational ability, and daily living skills declined as a function of age. Canities (40.6%) were the most prevalent physical sign of aging, followed by missing teeth, hump back, and skin wrinkling. Further, physical aging was related to a decline in social functions (p < 0.001). Conclusion: The present study showed that adults with Down syndrome exhibit signs of physical aging earlier than do the general population, and that physical aging is associated with social functioning. Thus, the appearance of physical aging might indicate a decline in social functioning