scholarly journals Temper outbursts in Lowe syndrome: Characteristics, sequence, environmental context and comparison to Prader–Willi syndrome

2019 ◽  
Vol 32 (5) ◽  
pp. 1216-1227
Author(s):  
Helen Cressey ◽  
Chris Oliver ◽  
Hayley Crawford ◽  
Jane Waite
Keyword(s):  
Environmental Context ◽  
Lowe Syndrome ◽  
Prader Willi Syndrome ◽  
Temper Outbursts

scholarly journals Sertraline as a treatment option for temper outbursts in Prader–Willi syndrome

2020 ◽  
Author(s):  
Maximilian Deest ◽  
Maximilian Michael Jakob ◽  
Johanna Seifert ◽  
Stefan Bleich ◽  
Helge Frieling ◽  
...  
Keyword(s):  
Treatment Option ◽  
Prader Willi Syndrome ◽  
Temper Outbursts

scholarly journals The characteristics of temper outbursts in Prader-Willi syndrome

2018 ◽  
Vol 176 (11) ◽  
pp. 2292-2300 ◽  
Author(s):  
Lauren J. Rice ◽  
Kate Woodcock ◽  
Stewart L. Einfeld
Keyword(s):  
Prader Willi Syndrome ◽  
Temper Outbursts

Temper outbursts in Prader-Willi syndrome: causes, behavioural and emotional sequence and responses by carers

2013 ◽  
Vol 58 (2) ◽  
pp. 134-150 ◽  
Author(s):  
P. Tunnicliffe ◽  
K. Woodcock ◽  
L. Bull ◽  
C. Oliver ◽  
J. Penhallow
Keyword(s):  
Prader Willi Syndrome ◽  
Temper Outbursts

scholarly journals Hypomethylation of Monoamine Oxidase A promoter/exon 1 region is associated with temper outbursts in Prader-Willi syndrome

2021 ◽  
Author(s):  
Maximilian Deest ◽  
Vanessa Buchholz ◽  
Kirsten Jahn ◽  
Christian Eberlein ◽  
Stefan Bleich ◽  
...  
Keyword(s):  
Monoamine Oxidase ◽  
Physical Aggression ◽  
Crucial Role ◽  
Cpg Island ◽  
Monoamine Oxidase A ◽  
Prader Willi Syndrome ◽  
Behavioural Phenotype ◽  
Methylation Rate ◽  
Exon 1 ◽  
Temper Outbursts

Background: Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder caused by the absence of paternally expressed and maternally imprinted genes on chromosome 15q 11.2-13. It is associated with a certain behavioural phenotype with repetitive and ritualistic behaviours, skin-picking and temper outbursts. Temper outbursts are characterized by verbal and physical aggression with screaming, destroying property, and/or physical aggression towards others. They drastically effect the quality of life of the individuals as well as the relatives and caregivers. Recent studies show a promising therapeutic effect of serotonin reuptake inhibitors like sertraline on frequency and intensity of outbursts. Monoamine oxidase A (MAOA) (X p11.23) plays a crucial role in the metabolism of monoamines such as serotonin, norepinephrine, and dopamine. Dysregulation in methylation of the CpG island spanning the promoter region and exon 1 of MAOA is implicated in impulsive and aggressive behaviour. Methods: In the present study, methylation rates of CpG dinucleotides in the MAOA promoter and exon 1 region were determined from DNA derived from whole blood samples of PWS patients (n=32) and controls (n=14) matched for age, sex and BMI via bisulfite sequencing. PWS patients were grouped into those showing temper outbursts, and those who do not. Results: Overall, PWS patients show a significant lower methylation rate at the promoter/exon 1 region than healthy controls in both sexes. Furthermore, PWS patients, male as well female with temper outbursts show a significant lower methylation rate than those without temper outbursts (p<0.001 and p=0.006) Conclusion: The MAOA promoter/exon 1 region methylation seems to be dysregulated in PWS patients in sense of a hypomethylation, especially in those suffering from temper outbursts. As MAOA is involved in the metabolism of serotonin, we conclude that this dysregulation plays a crucial role in the pathophysiology of temper outbursts in PWS. Furthermore, our findings suggest, that dysregulation of certain genes outside the PWS locus contribute to the behavioural phenotype of PWS.

scholarly journals Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Lauren Schwartz ◽  
Assumpta Caixàs ◽  
Anastasia Dimitropoulos ◽  
Elisabeth Dykens ◽  
Jessica Duis ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Genetic Disorder ◽  
Assessment Tools ◽  
Limiting Factor ◽  
Prader Willi Syndrome ◽  
Obsessive Compulsive ◽  
Behavioral Challenges ◽  
Behavioral Features ◽  
Compulsive Behaviors ◽  
Temper Outbursts

AbstractPrader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with a characteristic behavioral phenotype that includes severe hyperphagia and a variety of other behavioral challenges such as temper outbursts and anxiety. These behaviors have a significant and dramatic impact on the daily functioning and quality of life for the person with PWS and their families. To date, effective therapies addressing these behavioral challenges have proven elusive, but several potential treatments are on the horizon. However, a limiting factor for treatment studies in PWS is the lack of consensus in the field regarding how to best define and measure the complex and interrelated behavioral features of this syndrome. The International PWS Clinical Trials Consortium (PWS-CTC, www.pwsctc.org) includes expert PWS scientists, clinicians, and patient advocacy organization representatives focused on facilitating clinical trials in this rare disease. To address the above gap in the field, members of the PWS-CTC “Behavior Outcomes Working Group” sought to develop a unified understanding of the key behavioral features in PWS and build a consensus regarding their definition and description. The primary focus of this paper is to present consensus definitions and descriptions of key phenotypic PWS behaviors including hyperphagia, temper outbursts, anxiety, obsessive–compulsive behaviors, rigidity, and social cognition deficits. Patient vignettes are provided to illustrate the interrelatedness and impact of these behaviors. We also review some available assessment tools as well as new instruments in development which may be useful in measuring these behavioral features in PWS.

scholarly journals Hypomethylation of monoamine oxidase A promoter/exon 1 region is associated with temper outbursts in Prader-Willi syndrome

2021 ◽  
Author(s):  
Maximilian Deest ◽  
Vanessa Buchholz ◽  
Kirsten Jahn ◽  
Christian Eberlein ◽  
Stefan Bleich ◽  
...  
Keyword(s):  
Monoamine Oxidase ◽  
Monoamine Oxidase A ◽  
Prader Willi Syndrome ◽  
Exon 1 ◽  
Temper Outbursts

Prader-willi syndrome: Genetics and behavior

1996 ◽  
Vol 71 (4) ◽  
pp. 187-212 ◽  
Author(s):  
Travis Thompson ◽  
Merlin Butler ◽  
William MacLean ◽  
Beth Joseph
Keyword(s):  
Prader Willi Syndrome ◽  
And Behavior
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