The developing role of anthropologists in medical genetics: Anthropometric assessment of the Prader‐Labhart‐Willi syndrome as an illustration

Fj, Meaney; Mg, Butler

doi:10.1080/01459740.1989.9965971

Cited by 18 publications

(8 citation statements)

References 18 publications

(13 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The reduction of motor and sensory nerve response ampli-tudes has been described in obese people and its correlation to BMI well documented in previous reports (Dumitru, 1995;Buschbacher, 1998;Miscio et al, 2005). Obesity progresses with age (Hall and Smith, 1972;Brambilla et al, 1997;Wollmann et al, 1998), and about one-third of the individuals with PWS are more than twice their ideal body weight (Schoeller et al, 1988;Meaney and Butler, 1989). A previous paper (Brandt and Rosen, 1998), examining one single median nerve in a sample of five PWS children, showed a reduced amplitude of SNAP, and attributed this finding to a reduced number of normal axons in the median nerve.…”

Section: Discussionsupporting

confidence: 59%

“…However, children with PWS usually become overweight by the age of 4 yr as a consequence of their insatiable appetite and compulsive eating (Laurance, 1993). Obesity progresses with age (Hall and Smith, 1972;Brambilla et al, 1997;Wollmann et al, 1998), and about one-third of the individuals with PWS are more than twice their ideal body weight (Schoeller et al, 1988;Meaney and Butler, 1989). Thus the axonal alteration detected in the study of Brandt and Rosen could be attributed to the expected high BMI of the PWS children examined.…”

Section: Discussionmentioning

confidence: 79%

See 1 more Smart Citation

On the origin of sensory impairment and altered pain perception in Prader–Willi syndrome: A neurophysiological study

Priano

Miscio

Grugni

et al. 2009

European Journal of Pain

View full text Add to dashboard Cite

show abstract

Section: Discussionsupporting

confidence: 59%

Section: Discussionmentioning

confidence: 79%

On the origin of sensory impairment and altered pain perception in Prader–Willi syndrome: A neurophysiological study

Priano

Miscio

Grugni

et al. 2009

European Journal of Pain

View full text Add to dashboard Cite

show abstract

“…PWS is recognized as the most common known cause of marked obesity in humans (Butler, ) resulting from chronic imbalance between energy intake and expenditure because of hyperphagia with an inability to vomit, decreased muscle mass, tone, and physical activity with a reduced resting metabolic rate (Butler et al, ; Butler, Theodoro, Bittel, & Donnelly, ; Hill, Kaler, Spetalnick, Reed, & Butler, ). Body fat in individuals with PWS without growth hormone treatment can account for 40%–50% of their body composition, which is two or three times higher than in the general population (Butler, Meaney, & Palmer, ), about one‐third of individuals weigh more than 200% of their ideal body weight (Butler & Meaney, ; Meaney & Butler, , ). Total energy, resting energy, sleeping energy, and active energy expenditure are lower in individuals with PWS than in control individuals without the syndrome (Butler et al, ; Hill et al, ; Schoeller, Levitsky, Bandini, Dietz, & Walczak, ).…”

Section: Introductionmentioning

confidence: 99%

Preliminary observations of mitochondrial dysfunction in Prader–Willi syndrome

Butler

Hossain

Tessman

et al. 2018

American J of Med Genetics Pt A

Self Cite

View full text Add to dashboard Cite

Prader-Willi syndrome (PWS) is a complex multi-system disorder due to errors in genomic imprinting with severe hypotonia, decreased muscle mass, poor suckling, feeding problems and failure to thrive during infancy, growth and other hormone deficiency, childhood-onset hyperphagia and subsequent obesity. Decreased energy expenditure in PWS is thought to contribute to reduced muscle mass and physical activity but may also relate to cellular metabolism and disturbances in mitochondrial function. We established fibroblast cell lines from six children and adults with PWS and six healthy controls for mitochondrial assays. We used Agilent Seahorse XF extra-cellular flux technology to determine real-time measurements of several metabolic parameters including cellular substrate utilization, ATP-linked respiration and mitochondrial capacity in living cells. Decreased mitochondrial function was observed in the PWS patients compared to the healthy controls with significant differences in basal respiration, maximal respiratory capacity and ATP-linked respiration. These results suggest disturbed mitochondrial bioenergetics in PWS although a low number of studied subjects will require a larger subject population before a general consensus can be reached to identify if mitochondrial dysfunction is a contributing factor in PWS.

show abstract

“…The fat mass increases more rapidly than muscle mass or stature in children with PWS without growth hormone treatment with more than twice the amount of body fat gained compared with others and often measuring about 50% of their total body weight. 7 Weight control with exercise and dietary restrictions are key management issues. 2,8,9 …”

Section: Introductionmentioning

confidence: 99%

Effects of growth hormone treatment in adults with Prader–Willi syndrome

Butler

Smith

Lee

et al. 2013

Growth Hormone & IGF Research

View full text Add to dashboard Cite

Objective Since limited data exist on adults with Prader-Willi syndrome (PWS) and growth hormone (GH) treatment, we report our experience on the effects of treatment for one year on body composition, physical activity, strength and energy expenditure, diet, general chemistry and endocrine data with quality of life measures. Design We studied 11 adults with PWS (6F:5M; average age = 32 yrs) over a 2 year period with GH treatment during the first year only. Electrolytes, IGF-I, glucose, thyroid, insulin, lipids, body composition, physical activity and strength, diet, energy expenditure and quality of life data were collected and analyzed statistically using linear modeling at baseline, at 12 months following GH therapy and at 24 months after treatment cessation for 12 months. Results Total lean muscle mass was significantly increased (p < 0.05) during GH treatment along with moderate-vigorous physical activity and plasma IGF-I and HDL levels, but returned to near baseline after treatment. Percent body fat decreased during the 12 months of GH treatment but increased after treatment. Conclusions Previously reported beneficial effects of GH treatment in children with PWS were found in our adults regarding body composition, physical activity and plasma HDL and IGF-I levels. Several beneficial effects diminished to near baseline after cessation of GH treatment for 12 months supporting the continuation of treatment in PWS into adulthood and possibly adults not previously treated during childhood.

show abstract

The developing role of anthropologists in medical genetics: Anthropometric assessment of the Prader‐Labhart‐Willi syndrome as an illustration

Cited by 18 publications

References 18 publications

On the origin of sensory impairment and altered pain perception in Prader–Willi syndrome: A neurophysiological study

On the origin of sensory impairment and altered pain perception in Prader–Willi syndrome: A neurophysiological study

Preliminary observations of mitochondrial dysfunction in Prader–Willi syndrome

Effects of growth hormone treatment in adults with Prader–Willi syndrome

Contact Info

Product

Resources

About