Prevalence study of Prader‐Willi syndrome in North Dakota

Burd, Larry; Vesely, Barbara; Martsolf, John T.; Kerbeshian, Jacob

doi:10.1002/ajmg.1320370122

Cited by 103 publications

(48 citation statements)

References 5 publications

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“…The myth that gonadal replacement may lead to a more aggressive behaviour and aggravate temper tantrums was not confirmed by our observations. Though the number of patients examined was limited due to the rarity of the syndrome (prevalence 1:15,000–25,000) [44, 45], a more generalized early treatment of hypogonadism in PWS is justified to examine prospectively the androgenic effects on behaviour in larger controlled studies.…”

Section: Discussionmentioning

confidence: 99%

Clinical Effects of Treatment for Hypogonadism in Male Adolescents with Prader-Labhart-Willi Syndrome

Eiholzer¹,

Grieser²,

Schlumpf³

et al. 2007

Horm Res Paediatr

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Background: In boys with Prader-Labhart-Willi syndrome (PWS), hypogonadism causes pubertal arrest and reduces pubertal muscle growth. Formerly, it was assumed that therapy with gonadal hormones accentuates behaviour abnormalities in PWS. Our aim was to assess the clinical effects of human chorionic gonadotropin (hCG) therapy on pubertal development, muscle mass and behaviour in adolescents with PWS. Methods: 6 peripubertal boys with PWS undergoing long-term treatment with growth hormone were examined 6-monthly for at least 2 years before and after pubertal arrest (13.5 ± 0.3 years, mean ± SEM) and the beginning of hCG therapy (500–1,500 IU twice weekly, intramuscularly). Height, weight, pubertal stage, bone age, body composition (by dual-energy X-ray absorptiometry), testosterone levels and behaviour abnormalities (obtained from parents) were assessed. Results: Testicular volume and lean mass were reduced in pubertal boys with PWS. During hCG therapy, testosterone levels and lean mass significantly increased (at the beginning and after 2 years of hCG therapy: 2.3 ± 0.9 and 10.7 ± 1.3 nmol/l, –3.1 ± 0.3 and –1.4 ± 0.6 SD, respectively), and fat mass stabilized at 38%. The characteristically observed PWS-associated problems, mood instability, aggressiveness and difficulties in social interaction, did not deteriorate during therapy. Conclusion: In the present study, timely application of hCG to treat hypogonadism in boys with PWS promoted virilization and normalized muscle mass without detrimental effects on behaviour. Larger studies comparing hCG therapy with testosterone replacement would be useful.

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Section: Discussionmentioning

confidence: 99%

Clinical Effects of Treatment for Hypogonadism in Male Adolescents with Prader-Labhart-Willi Syndrome

Eiholzer¹,

Grieser²,

Schlumpf³

et al. 2007

Horm Res Paediatr

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“…It is estimated to have an incidence of 1:16,000 [1]. Common features include hypotonia and feeding difficulties in infancy, hyperphagia with early childhood obesity, short stature, hypogonadism, mental retardation with behavioral abnormalities, small hands and feet, excessive daytime sleepiness, and temperature instability [2].…”

Section: Introductionmentioning

confidence: 99%

Sudden Death in Prader-Willi Syndrome during Growth Hormone Therapy

Sacco¹,

Giorgio²

2005

Horm Res Paediatr

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We describe a child with Prader-Willi syndrome (PWS) aged 3 years and 11 months who suddenly died 7 months after the initiation of GH therapy. The child never showed respiratory problems, but suffered from severe obesity. This case raises the question about the association between sudden death in children with PWS (with or without respiratory problems) and GH therapy, as already suspected in the recent past. We suggest that further epidemiological studies are required in order to determine more accurately the frequency of this causal connection and better understand its pathogenesis.

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“…8 Most authors estimate the prevalence based on clinical diagnoses within a small population (less than 265 000) and a limited age group (under 30 years). 8 -10 A recent study including all ages, 11 found a birth incidence of 1:29 000, a prevalence of 1:52 000 and a mortality rate of 3% a year across all ages and 7% a year in those over 30 years of age.…”

Section: Introductionmentioning

confidence: 99%

Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders

et al. 2003

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The identification of all people with a diagnosis of Prader-Willi syndrome (PWS) confirmed by DNA methylation analysis living in Flanders was attempted through contact with the four genetic centres and the PWS Association. The birth incidence for the period 1993 -2001 was 1:26 676, the minimum prevalence at 31 December 2001 was 1:76 574. A decreasing number of cases with age was found, which can be explained by a number of missing cases in the older population, a higher neonatal mortality in the past and an increasing mortality with age. Childhood death is usually sudden and associated with respiratory infection and high temperature, while the cause of death in adults is considered to be circulatory or respiratory in origin.

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Prevalence study of Prader‐Willi syndrome in North Dakota

Cited by 103 publications

References 5 publications

Clinical Effects of Treatment for Hypogonadism in Male Adolescents with Prader-Labhart-Willi Syndrome

Clinical Effects of Treatment for Hypogonadism in Male Adolescents with Prader-Labhart-Willi Syndrome

Sudden Death in Prader-Willi Syndrome during Growth Hormone Therapy

Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders

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