The Prader-Willi syndrome.

Donaldson, Malcolm; Chu, Chao; Cooke, Alexander; Wilson, Anna; Greene, S A; Stephenson, J

doi:10.1136/adc.70.1.58

Cited by 125 publications

(65 citation statements)

References 49 publications

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“…A range of food-related behavioural difficulties are also reported in the PWS literature, including taking food from others (Donaldson et al, 1994), stealing money to purchase food (Sherman, 1995), hoarding food items (Dykens et al, 1996) and lifting a kitchen door from its hinges in order to gain access to food (Benjamin & Buot-Smith, 1993). The ways in which individuals seek to obtain food are also described as 'manipulative' and 'ingenious' (Donaldson et al 1994).…”

Section: Introductionmentioning

confidence: 99%

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The assessment of food‐related problems in individuals with Prader‐Willi syndrome

Russell

Oliver

2003

British J Clinic Psychol

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The development of a twenty item questionnaire, the Food Related Problem Questionnaire (FRPQ), with four subscales (preoccupation with food, impairment of satiety, difficulty with self-control and other food-related 'challenging' behaviour of food-related problems) for use with individuals with Prader-Willi syndrome (PWS) is described.. Test-retest and inter-rater reliability for the total score are .78 and .86 respectively. Subscale test-retest and inter-rater reliability are acceptable for three subscales (range .70 to .85) but not for the self control subscale. To establish criterion validity, scores on the FRPQ for a sample of individuals with PWS were compared to scores for individuals with intellectual disability but not PWS. All reliable subscale scores and the total score differentiated between the groups (p<.001 in all cases). Internal consistency for the total scale is good (Cronbach's Alpha = .87). Finally, some normative data for a limited age range are presented and potential applications of the measure are discussed.Assessing food related problems 3

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Section: Introductionmentioning

confidence: 99%

“…The ways in which individuals seek to obtain food are also described as 'manipulative' and 'ingenious' (Donaldson et al 1994). However, these descriptions are based on anecdotal reports of a few people with PWS.…”

Section: Introductionmentioning

confidence: 99%

The assessment of food‐related problems in individuals with Prader‐Willi syndrome

Russell

Oliver

2003

British J Clinic Psychol

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“…The diagnosis has been markedly improved by the use of the criteria of Holm et al [2]and by cytogenetic and molecular analysis which shows the lack of paternal allele expression of a region located in the q11–q13 band of chromosome 15 [3, 4, 5, 6]. However, the diagnosis is rarely made during the first months of life, particularly in girls [7].…”

Section: Introductionmentioning

confidence: 99%

Auxological and Endocrine Evolution of 28 Children with Prader-Willi Syndrome: Effect of GH Therapy in 14 Children

Tauber

Barbeau²,

Jouret³

et al. 2000

Horm Res Paediatr

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We report on the auxological and endocrine evolution of 28 patients presenting with Prader-Willi syndrome. Half of them received growth hormone (GH) therapy (group 2). The spontaneous auxological evolution was analyzed in the two groups from 2 to 8 years; the mean SDS for height remained stable (–0.6 ± 0.6) in group 1 and decreased (from –2.0 ± 0.9 to –2.7 ± 0.6) in group 2. Magnetic resonance imaging showed marked pituitary hypoplasia in the two groups. In group 2, the mean GH peak after two provocative tests was 3.8 ± 2.4 µg/l, the mean SDS values for insulin-like growth factor I levels were –2.0 ± 1.5 (range from –0.5 to –5.0). The mean duration of GH treatment was 3.6 ± 2.9 (range 1–9.3) years. 14 children completed 1 year of treatment. The two groups had opposite evolutions in ΔSDS for height (–0.8 ± 0.8 vs. +1.1 ± 0.8), for growth velocity (–1.9 ± 2.2 vs. +2.9 ± 2.7), and for Z score of the body mass index (+0.37 ± 1.3 vs. –0.14 ± 0.76; group 1 vs. group 2). This retrospective study shows that, in children with Prader-Willi syndrome and true GH deficiency, long-term GH therapy is effective in increasing growth velocity and in maintaining body mass index.

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“…There are three main genetic subtypes in PWS: paternal 15q11-q13 deletion in 65-75%, maternal uniparental disomy (UPD) in 20-30% and imprinting center defect in 1-3% of all cases [3,4]. PWS is the most common syndromic cause of life-threatening obesity and the first recognized disorder related to genomic imprinting.…”

Section: Introductionmentioning

confidence: 99%

“…The estimated prevalence is 1/10,000-1/30,000 [1]. Infants with PWS suffer from severe hypotonia, feeding difficulties, and failure to thrive (FTT) followed in later infancy or early childhood by excessive appetite with gradual development of obesity, short stature, hypogonadism, intellectual disabilities and behavioral problems [2].There are three main genetic subtypes in PWS: paternal 15q11-q13 deletion in 65-75%, maternal uniparental disomy (UPD) in 20-30% and imprinting center defect in 1-3% of all cases [3,4]. PWS is the most common syndromic cause of life-threatening obesity and the first recognized disorder related to genomic imprinting.…”

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confidence: 99%

Bone Mineral Density in Prader Willi Syndrome: A Search for Genetic Markers

Altarescu¹,

Gross-Tsur²,

Hirsch³

et al. 2017

J Osteopor Phys Act

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decreased BMD and bone mineral content (BMC) in PWS. Recently it has been shown that PW Snord 116 knockout mice show reduced bone formation indicating a possible link between the PW critical region and osteoporosis [10]. Since bone density and mineral content are highly variable among PWS individuals, other factors may contribute to the development of osteopenia and/or osteoporosis. Identifying risk factors for developing osteopenia or osteoporosis may allow early intervention prior to severe bone loss. The purpose of our study was to investigate polymorphisms of candidate genes previously shown to correlate with osteoporosis and/or bone disease and determine if similar associations are present in a PWS population. Materials and MethodsDNA samples were collected from 96 of 103 individuals above the age of 3 years with PWS followed at the Israeli national multidisciplinary PWS clinic at Shaare Zedek Medical Center, Jerusalem, Israel. There were Keywords: Prader-Willi syndrome; Osteoporosis; Osteopenia; Genetic markers of osteoporosis; Bone mineral density; DXA IntroductionPrader-Willi syndrome (PWS) is a complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. The estimated prevalence is 1/10,000-1/30,000 [1]. Infants with PWS suffer from severe hypotonia, feeding difficulties, and failure to thrive (FTT) followed in later infancy or early childhood by excessive appetite with gradual development of obesity, short stature, hypogonadism, intellectual disabilities and behavioral problems [2].There are three main genetic subtypes in PWS: paternal 15q11-q13 deletion in 65-75%, maternal uniparental disomy (UPD) in 20-30% and imprinting center defect in 1-3% of all cases [3,4]. PWS is the most common syndromic cause of life-threatening obesity and the first recognized disorder related to genomic imprinting. Muscle mass is decreased by 25-37%, which might partly explain the hypotonia [5]. Diabetes and scoliosis are common features of PWS [6]. Hypothalamic dysfunction has been implicated in many manifestations of this syndrome including hyperphagia, high pain threshold, sleepdisordered breathing, and multiple endocrine abnormalities including hypogonadism [7,8]. The etiology of hypogonadism in PWS (primary gonadal or hypothalamic) is heterogeneous [5].Increased fat mass and decreased lean body mass are characteristics of PWS. Several studies have demonstrated that individuals with PWS have lower bone mineral density (BMD) compared to normal controls [9]. Hypotonia, hypogonadism, growth hormone deficiency, and limited mineral and vitamin intake due to diet restrictions may contribute to the Abstract Introduction: Prader-Willi syndrome (PWS (is caused by lack of paternally expressed imprinted genes at chromosome 15q11.2-q13. Diminished (BMD) and osteoporosis are common in PWS. The purpose of this study was to determine whether polymorphisms in genes previously shown to correlate with bone mineral density (BMD), might explain the variable expression of abnormal...

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The Prader-Willi syndrome.

Cited by 125 publications

References 49 publications

The assessment of food‐related problems in individuals with Prader‐Willi syndrome

The assessment of food‐related problems in individuals with Prader‐Willi syndrome

Auxological and Endocrine Evolution of 28 Children with Prader-Willi Syndrome: Effect of GH Therapy in 14 Children

Bone Mineral Density in Prader Willi Syndrome: A Search for Genetic Markers

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