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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| group 1, pws group | Individuals with PWS, aged 7 to 65 years, and able to follow simple instructions in chinese language. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Ultrasound assessment of the right lower extremity muscles | Diagnostic Test | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Muscle thickness ultrasound | 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. | 1 day |
| Cross-sectional area ultrasound | 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. | 1 day |
| Pennation angle ultrasound | 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. | 1 day |
| DXA: total lean body mass | Lean index of total lean body mass (LBM) with Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA | 1 day |
| DXA: skeletal muscle (SM) | Lean index of skeletal muscle (SM) with Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA | 1 day |
| DXA: appendicular skeletal muscle mass index (ASMI) | Lean index of appendicular skeletal muscle mass index (ASMI) with Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA | 1 day |
| DXA: fat mass index (FMI) | Adipose index of fat mass index using Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA. |
| Measure | Description | Time Frame |
|---|---|---|
| Handgrip and lateral pinch strength | Grip strength and lateral pinch will be assessed bilaterally using an isometric Baseline hydraulic hand dynamometer and pinch gauge. | 1 day |
| Physical performance test: SPPB |
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Inclusion Criteria:
Exclusion Criteria:
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All individuals with genetically confirmed PWS will be recruited from one of the Northern hospital outpatient center in Taiwan in the given time period.
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| Name | Affiliation | Role |
|---|---|---|
| Valeria Chiu, MD | Taichung Tzu Chi Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation | New Taipei City | 231 | Taiwan |
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| ID | Term |
|---|---|
| D011218 | Prader-Willi Syndrome |
| D055948 | Sarcopenia |
| D024821 | Metabolic Syndrome |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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| ID | Term |
|---|---|
| D015502 | Absorptiometry, Photon |
| ID | Term |
|---|---|
| D011859 | Radiography |
| D003952 | Diagnostic Imaging |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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No biospecimen will be used in this study
| Dual-energy X-ray absorptiometry (DXA) scan | Diagnostic Test | 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). |
|
| 1 day |
| DXA: body fat mass (BFM) | Adipose index of body fat mass (BFM) using Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA. | 1 day |
| DXA: percentage fat mass | Adipose index of percentage fat mass using Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA. | 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).
| 1 day |
| Physical performance test: gait speed | In the gait speed test participants walk over a 4-meter distance at their normal pace. | 1 day |
| Physical performance test: five-time chair stand test | In the 5-time chair stand test participants perform five sit-to-stand movements as quickly as possible | 1 day |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D000096803 | Imprinting Disorders |
| D009765 | Obesity |
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
| D009750 | Nutritional and Metabolic Diseases |
| D009133 | Muscular Atrophy |
| D020879 | Neuromuscular Manifestations |
| D001284 | Atrophy |
| D020763 | Pathological Conditions, Anatomical |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D012816 | Signs and Symptoms |
| D007333 | Insulin Resistance |
| D006946 | Hyperinsulinism |
| D044882 | Glucose Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D003720 |
| Densitometry |
| D010783 | Photometry |
| D002623 | Chemistry Techniques, Analytical |
| D008919 | Investigative Techniques |