Associations of health-related quality of life, fear of falling and objective measures of physical function with bone health in postmenopausal women with low bone mass

Health-related quality of life (HRQoL) and physical function deteriorate with age and may adversely impact bone health in older adults. We determined associations of objective measures of physical function and HRQoL with bone health in postmenopausal women with low areal bone mineral density (aBMD). Fifty postmenopausal women (64.4 ± 7.7 years old, mean ± standard deviation) with low spine, hip or femoral neck aBMD (T- or Z-score < −1.0) on dual-energy X-ray absorptiometry (DXA) participated. Femoral surface BMD, trabecular, integral and cortical volumetric BMD (vBMD) measurements were obtained using 3D-SHAPER software on DXA. Distal tibial vBMD and microarchitecture were assessed using high-resolution peripheral quantitative computed tomography (HRpQCT). Participants completed self-administered EuroQol-5D (EQ-5D) and modified falls efficacy scale (MFES) questionnaires, and physical function assessments. Stair climb power was positively associated with bone parameters at the hip, femoral neck, and distal tibia (all p < 0.05) in multivariable linear regression. EQ-5D demonstrated no significant associations with bone parameters and MFES was positively associated only with distal tibial cortical vBMD and cortical von Mises stress (both p < 0.05). Objective measures of physical function, particularly muscle power, are more consistently associated with bone parameters compared with self-administered HRQoL questionnaires

Metabolic Syndrome and Its Associations with Components of Sarcopenia in Overweight and Obese Older Adults

Ageing, obesity and the metabolic syndrome (MetS) may all contribute to poor muscle health (sarcopenia). This study aimed to determine the cross-sectional associations between MetS (International Diabetes Federation classification) and sarcopenia (revised European Working Group on Sarcopenia in Older People definition) in 84 overweight and obese older adults. Components of sarcopenia included muscle strength (hand grip and leg extension), physical performance (stair climb test and short physical performance battery (SPPB), including gait speed and repeated chair stands time), muscle mass (appendicular lean mass (ALM), dual-energy X-ray absorptiometry), muscle size (peripheral quantitative computed tomography-determined calf and forearm cross-sectional area (CSA)) and muscle quality (muscle density and strength normalised to lean mass). Waist circumference was associated with greater muscle size, but poorer leg extension strength, chair stands and stair climb time, gait speed, SPPB scores and muscle quality measures (all p &lt; 0.05). MetS was positively associated with ALM and forearm muscle CSA, and negatively associated with muscle quality measures and chair stands time (all p &lt; 0.05). MetS is associated with larger muscle size, yet poorer muscle quality in overweight and obese older adults. Assessments of muscle function and quality should be considered for obese older adults and those with MetS

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking.METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents. Clinicians filled in a structured questionnaire on genetic and clinical findings to enable correlations between genotype and phenotype. Clinical photographs and specialist reports were gathered. Parents were interviewed to complement the written questionnaires.RESULTS: We report on the detailed clinical characterization of a large cohort of individuals with an ADNP mutation and demonstrate a distinctive combination of clinical features, including mild to severe intellectual disability, autism, severe speech and motor delay, and common facial characteristics. Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities. Strikingly, individuals with the recurrent p.Tyr719* mutation were more severely affected.CONCLUSIONS: This overview defines the full clinical spectrum of individuals with ADNP mutations, a specific autism subtype. We show that individuals with mutations in ADNP have many overlapping clinical features that are distinctive from those of other autism and/or intellectual disability syndromes. In addition, our data show preliminary evidence of a correlation between genotype and phenotype.Genetics of disease, diagnosis and treatmen