Prader-Willi Syndrome, Sarcopenia, Metabolic Syndrome
Conditions
Keywords
Prader-Willi Syndrome, Sarcopenia, Ultrasound, skeletal muscle, body composition
Brief summary
The aim of the study is to examine the clinical applicability of ultrasound as a diagnostic tool for sarcopenia in individuals with PWS by investigating the association between ultrasound-derived measurements, DXA-derived measurements, and sarcopenia-related outcomes.
Detailed description
Sarcopenia is an age-related loss of muscle mass plus low muscle strength, and/or low physical performance, that may affect over 25% of individuals over the age of 60, resulting in an increased likelihood of developing disability. Abnormal body composition with an increased in body fat mass and a decreased in skeletal muscle mass were noted in individuals with Prader Willi syndrome (PWS), thought to be related to hormonal deficiencies due to hypothalamic dysfunction, presenting as a unique congenital model of sarcopenia. Muscle mass can be measured by dual-energy X-ray absorptiometry (DXA) scan device, but it is expensive, increased radiation exposure, and not easily accessible in all clinical practice. Ultrasound (USD) is a non-invasive, without ionising radiation, low-cost, and easily accessible tool for the assessment of soft tissue. There were increasing evidence for the use of USD in the measurement of muscle thickness (MT), cross-sectional area (CSA) and pennate anle (PA) of different muscle groups in different populations. However, the use of USD as a routine diagnostic tool in individuals with PWS has not been reported yet. The aim of the study is to examine the clinical applicability of ultrasound as a diagnostic tool for sarcopenia in individuals with PWS by investigating the association between ultrasound-derived measurements, DXA-derived measurements, and sarcopenia-related outcomes.
Interventions
DIAGNOSTIC_TESTUltrasound assessment of the right lower extremity muscles
Rectus femoris cross sectional area (RFCSA), RF muscle thickness, vastus lateralis (VL) muscle thickness, Gastrocnemius medialis (GM) muscle thickness, VL pennation angle (PA), and GM PA.
DIAGNOSTIC_TESTDual-energy X-ray absorptiometry (DXA) scan
skeletal muscle mass (SM), appendicular skeletal muscle mass index (ASMI), total lean body mass (LBM), total fat mass (BF), percentage fat mass, and fat mass index (FMI).
Sponsors
Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
7 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
* Genetically diagnosed individuals with PWS who can cooperate with the examinations
Exclusion criteria
* Individuals with PWS who have arthritis, fractures, or severe musculoskeletal deformities that could interfere with the examinations. * Individuals with PWS who have severe cognitive impairment and are unable to read or sign the written consent.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| DXA: percentage fat mass | 1 day | Adipose index of percentage fat mass using Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA. |
| DXA: skeletal muscle (SM) | 1 day | Lean index of skeletal muscle (SM) with Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA |
| DXA: appendicular skeletal muscle mass index (ASMI) | 1 day | Lean index of appendicular skeletal muscle mass index (ASMI) with Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA |
| DXA: fat mass index (FMI) | 1 day | Adipose index of fat mass index using Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA. |
| DXA: body fat mass (BFM) | 1 day | Adipose index of body fat mass (BFM) using Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA. |
| Muscle thickness ultrasound | 1 day | Ultrasound scanning of the muscle thickness of rectus femoris (RF), vastus lateralis (VL), and gastrocnemius medialis (GM) using B-mode ultrasonography (LOGIQ S8, GE Healthcare, USA) and a 7-15 MHz linear array transducer. |
| Cross-sectional area ultrasound | 1 day | Ultrasound scanning of the cross sectional area of rectus femoris (RF) using B-mode ultrasonography (LOGIQ S8, GE Healthcare, USA) and a 7-15 MHz linear array transducer. |
| Pennation angle ultrasound | 1 day | Ultrasound scanning of the pennation angles of vastus lateralis (VL) and gastrocnemius medialis (GM) using B-mode ultrasonography (LOGIQ S8, GE Healthcare, USA) and a 7-15 MHz linear array transducer. |
| DXA: total lean body mass | 1 day | Lean index of total lean body mass (LBM) with Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Physical performance test: SPPB | 1 day | The short physical performance battery (SPPB) will be used, which measures balance, walking speed, strength, and endurance in the lower limbs, and is scored from zero to 12 (worst to best score). |
| Physical performance test: gait speed | 1 day | In the gait speed test participants walk over a 4-meter distance at their normal pace. |
| Physical performance test: five-time chair stand test | 1 day | In the 5-time chair stand test participants perform five sit-to-stand movements as quickly as possible |
| Handgrip and lateral pinch strength | 1 day | Grip strength and lateral pinch will be assessed bilaterally using an isometric Baseline hydraulic hand dynamometer and pinch gauge. |
Countries
Taiwan
Outcome results
None listed