Muscle health and performance in monozygotic twins with 30 years of discordant exercise habits.

INTRODUCTION: Physical health and function depend upon both genetic inheritance and environmental factors (e.g., exercise training). PURPOSE: To enhance the understanding of heritability/adaptability, we explored the skeletal muscle health and physiological performance of monozygotic (MZ) twins with > 30 years of chronic endurance training vs. no specific/consistent exercise. METHODS: One pair of male MZ twins (age = 52 years; Trained Twin, TT; Untrained Twin, UT) underwent analyses of: (1) anthropometric characteristics and blood profiles, (2) markers of cardiovascular and pulmonary health, and (3) skeletal muscle size, strength, and power and molecular markers of muscle health. RESULTS: This case study represents the most comprehensive physiological comparison of MZ twins with this length and magnitude of differing exercise history. TT exhibited: (1) lower body mass, body fat%, resting heart rate, blood pressure, cholesterol, triglycerides, and plasma glucose, (2) greater relative cycling power, anaerobic endurance, and aerobic capacity (VO2max), but lower muscle size/strength and poorer muscle quality, (3) more MHC I (slow-twitch) and fewer MHC IIa (fast-twitch) fibers, (4) greater AMPK protein expression, and (5) greater PAX7, IGF1Ec, IGF1Ea, and FN14 mRNA expression than UT. CONCLUSIONS: Several measured differences are the largest reported between MZ twins (TT expressed 55% more MHC I fibers, 12.4 ml/kg/min greater VO2max, and 8.6% lower body fat% vs. UT). These data collectively (a) support utilizing chronic endurance training to improve body composition and cardiovascular health and (b) suggest the cardiovascular and skeletal muscle systems exhibit greater plasticity than previously thought, further highlighting the importance of studying MZ twins with large (long-term) differences in exposomes.

Feasibility of Assessing Diet with a Mobile Food Record for Adolescents and Young Adults with Down Syndrome.

Technology-based methods for assessing diet in those with disability remains largely unexplored. The aim was to assess the feasibility of assessing diet with an image-based mobile food record application (mFR) in 51 adolescents and young adults with Down syndrome (PANDs). Adherence was also assessed with the instruction to include a fiducial marker object in the before and after eating images. The PANDs sample completed a four-day mFR and results were compared with a sample of young adults from the Connecting Health and Technology study (CHAT, n = 244). Compared to the CHAT sample, PANDs participants reported more fruit (2.2 ± 1.8 versus 1.0 ± 0.9 serves respectively) and vegetables (2.4 ± 1.3 versus 1.9 ± 1.0 serves, respectively), but no differences in energy-dense nutrient-poor (EDNP) foods and beverages were observed. Compared to CHAT, PANDs participants captured fewer images with the mFR (4.9 ± 2.3 versus 4.0 ± 1.5 images, respectively). Adherence to the instruction to include the fiducial marker in images was lower for PANDs compared with the CHAT sample (90.3% versus 96.5%). Due to the quality of information captured in images and the high acceptability of the fiducial marker, the mFR shows great promise as a feasible method of assessing diet in adolescents and young adults with Down syndrome.

Health conditions and their impact among adolescents and young adults with Down syndrome.

OBJECTIVE: To examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the impact of these conditions upon their lives. METHODS: Using questionnaire data collected in 2011 from parents of young adults with Down syndrome we investigated the medical conditions experienced by their children in the previous 12 months. Univariate, linear and logistic regression analyses were performed. RESULTS: We found that in addition to the conditions commonly experienced by children with Down syndrome, including eye and vision problems (affecting 73%), ear and hearing problems (affecting 45%), cardiac (affecting 25%) and respiratory problems (affecting 36%), conditions also found to be prevalent within our young adult cohort included musculoskeletal conditions (affecting 61%), body weight (affecting 57%), skin (affecting 56%) and mental health (affecting 32%) conditions and among young women menstrual conditions (affecting 58%). Few parents reported that these conditions had no impact, with common impacts related to restrictions in opportunities to participate in employment and community leisure activities for the young people, as well as safety concerns. CONCLUSION: There is the need to monitor, screen and provide appropriate strategies such as through the promotion of healthy lifestyles to prevent the development of comorbidities in young people with Down syndrome and, where present, to reduce their impact.

Gastrointestinal dysmotility in Rett syndrome.

OBJECTIVES: Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease, constipation, and abdominal bloating in Rett syndrome. METHODS: Based on review of the literature and family concerns expressed on RettNet, initial draft recommendations were created. Wherein the literature was lacking, 25 open-ended questions were included. Input from an international, multidisciplinary panel of clinicians was sought using a 2-stage modified Delphi process to reach consensus agreement. Items related to the clinical assessment and management of gastroesophageal reflux disease, constipation, and abdominal bloating. RESULTS: Consensus was achieved on 78 of 85 statements. A comprehensive approach to the assessment of gastroesophageal reflux and reflux disease, constipation, and abdominal bloating was recommended, taking into account impairment of communication skills in Rett syndrome. A stepwise approach to the management was identified with initial use of conservative strategies, escalating to pharmacological measures and surgery, if necessary. CONCLUSIONS: Gastrointestinal dysmotility occurs commonly in Rett syndrome. These evidence- and consensus-based recommendations have the potential to improve care of dysmotility issues in a rare condition and stimulate research to improve the present limited evidence base.

Community participation for girls and women living with Rett syndrome.

OBJECTIVE: To describe the relationships between impairment and contextual factors and community participation for girls and women with Rett syndrome. METHODS: Data was collected from a questionnaire completed in 2009 by families participating in the Australian Rett Syndrome Database (n = 214). Univariate and multivariate logistic regression were used to analyse relationships between impairment, personal and environmental factors and community participation. RESULTS: The mean age of the girls and women was 17.6 years (SD = 7.95, range 3 to 34 years) with 114 (53.3%) girls still at school and 100 (46.7%) women post school. Frequency of activities was influenced by level of walking, community support and maternal education. For girls living at home, participation in activities was associated with greater functional independence and higher levels of maternal education. Participation in recreational (90.1%), physical/skill-based (67.6%) and/or social (70.3%) activities was commonly reported by families, while self-improvement (17.6%) activities were less reported. Younger girls participated in activities mainly with family members and older girls more frequently participated with carers. CONCLUSION: Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports. There are also needs for the implementation of policies that ensure resources are available and accessible by those communities most in need.

Assessment and management of nutrition and growth in Rett syndrome.

OBJECTIVES: We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an expert panel of clinicians. METHODS: Initial draft recommendations were created based upon literature review and 34 open-ended questions in which the literature was lacking. Statements and questions were made available to an international, multidisciplinary panel of clinicians in an online format and a Microsoft Word-formatted version of the draft via e-mail. Input was sought using a 2-stage modified Delphi process to reach consensus. Items included clinical assessment of growth, anthropometry, feeding difficulties and management to increase energy intake, decrease feeding difficulties, and consideration of gastrostomy. RESULTS: Agreement was achieved on 101 of 112 statements. A comprehensive approach to the management of poor growth in Rett syndrome is recommended that takes into account factors such as feeding difficulties and nutritional needs. A body mass index of approximately the 25th centile can be considered as a reasonable target in clinical practice. Gastrostomy is indicated for extremely poor growth, if there is risk of aspiration and if feeding times are prolonged. CONCLUSIONS: These evidence- and consensus-based recommendations have the potential to improve care of nutrition and growth in a rare condition and stimulate research to improve the present limited evidence base.