Psychotic disorders in Prader–Willi syndrome

Vogels, Annick; Hert, Marc De; Descheemaeker, Mie-Jef; Govers, Veerle; Devriendt, Koenraad; Legius, Eric; Prinzie, Peter; Fryns, J. P.

doi:10.1002/ajmg.a.30004

Cited by 104 publications

(66 citation statements)

References 32 publications

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“…21 Psychosis is evident by young adulthood in at least 5 -10% of the individuals. 17,22,23 Other characteristics A number of less consistent features are nonetheless common and/or characteristic, and may be important for diagnosis or management (Figures 2 -3 30,31 found that obesity-related cardiovascular and respiratory disorders were the most frequent causes of death in both children and adults. Based on a population study, the death rate has been estimated at 3% per year.…”

Section: Short Staturementioning

confidence: 99%

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Prader–Willi syndrome

2008

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In association withPrader-Willi syndrome Prader -Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2 -q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect.

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Section: Short Staturementioning

confidence: 99%

“…It is particularly important to be aware that psychosis develops in a substantial number of adults with UPD or imprinting defects. 22,23 Psychosis is treated in a standard manner.…”

Section: Developmental Disabilitymentioning

confidence: 99%

Prader–Willi syndrome

2008

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“…[19][20][21] In the general population, psychotic illnesses result in a substantially increased risk of death at a relatively young age. Overall, people with schizophrenia have a two-to threefold increased risk of premature dying.…”

Section: Psychiatrymentioning

confidence: 99%

Different distribution of the genetic subtypes of the Prader–Willi syndrome in the elderly

et al. 2010

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The Prader-Willi syndrome (PWS) is a genetic disorder caused by the absent expression of the paternal copy of maternally imprinted genes in chromosome region 15q11-13. The frequencies of different subtypes in PWS are usually given in literature as 70% deletion, 25-30% maternal uniparental disomy (mUPD) and 3-5% others (imprinting centre (IC) defects and translocations). Little is known about factors that influence the frequency of genetic subtypes in PWS. The study sample comprised 102 adults with clinically and genetically confirmed PWS, contacted through the Dutch Prader-Willi Parent Association and through physicians specialized in treating persons with intellectual disabilities. Genetic testing showed 55 persons (54%) with a paternal deletion, 44 persons (43%) with an mUPD and 3 persons (3%) with a defect of the IC. The observed distribution in our study differed from that in literature (70% deletion, 30% mUPD), which was statistically significant (z-score: Po0.05). This was mainly caused by a higher proportion of mUPD in the advanced age groups. Differences in maternal age and BMI of persons with PWS could not explain the differences in distribution across the age groups. Our study population had a much broader age range, compared with other studies, because of a predominance of elderly people (40+ years) with PWS. In other studies, these elderly persons might have been undiagnosed and/or underreported because of a lack of genetic diagnosis. The results underline both the need for correct genetic diagnosis in all persons with PWS and adjustment of the guidelines for preventive management in adulthood.

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“…PWS is characterized by a specific behaviour profile comprising obsessions/compulsions, inflexibility and temper tantrums [28, 29], in addition to a mild intellectual disability with a mean IQ of 60 points [30, 31]. Moreover, psychotic episodes occur in about 20% of young adults and are more frequent in patients with maternal uniparental disomy (UPD) [32, 33]. Adolescence is a critical period in PWS due to an increase in disruptive or antisocial behaviour and in emotional disturbances [34].…”

Section: Introductionmentioning

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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Psychotic disorders in Prader–Willi syndrome

Cited by 104 publications

References 32 publications

Prader–Willi syndrome

Prader–Willi syndrome

Different distribution of the genetic subtypes of the Prader–Willi syndrome in the elderly

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

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