Research Publications Archive - Foundation for Prader-Willi Research | Mental Health

Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome

Schizophrenia and bipolar disorder are common, severe, and disabling psychotic disorders, which are difficult to research. We argue that the genetically determined neurodevelopmental disorder Prader-Willi syndrome (PWS), which is associated with a high risk of affective psychotic illness, can...

High levels of caregiver burden in Prader-Willi syndrome

Objectives Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder that is characterized by hyperphagia, developmental delay, incomplete sexual development, mild-to-moderate intellectual disability, and a variety of challenging behavioral and psychiatric symptoms. The...

Reduced Gamma-Aminobutyric Acid Is Associated With Emotional and Behavioral Problems in Prader–Willi Syndrome

Prader-Willi syndrome (PWS) is characterized by infantile hypotonia, hypogonadism, small hands and feet, distinct facial features and usually intellectual impairment. The disorder is associated with severe behavioral disturbances which include hyperphagia leading to morbid obesity, temper...

Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links

Autism spectrum disorders (ASDs) present unique challenges in the fields of genetics and neurobiology because of the clinical and molecular heterogeneity underlying these disorders. Genetic mutations found in ASD patients provide opportunities to dissect the molecular and circuit mechanisms...

Ageing in people with Prader-Willi syndrome: mortality in the UK population cohort and morbidity in an older sample of adults

BACKGROUND: The past two decades have seen a great improvement in the care of people with Prader-Willi syndrome (PWS), particularly with regard to control of diet and behaviour management. Has this affected mortality rates or thrown up new issues regarding premature ageing or dementia? We...

A double-blind randomized controlled trial of oxytocin nasal spray in Prader Willi syndrome

Individuals with Prader-Willi syndrome (PWS) have a significant reduction in the number of oxytocin-producing neurons (42%) in the hypothalamic paraventricular nucleus. A number of animal studies and observations of humans show that lesions in this region can produce PWS-like symptoms. Given the...