Prader-Willi syndrome (PWS) is a genetic disorder produced by a lack of expression of paternally derived genes in the 15q11-13 region. Research has generally focused on its genetic and behavioral expression, but only a few studies have examined epigenetic influences. Prenatal testosterone or the maternal testosterone-to-estradiol ratio (MaTtEr) has been suggested to play an important role in the development of the 'social brain' during pregnancy.
View Article and Find Full Text PDFObjective: To develop an insight scale for Prader-Willi Syndrome (PWS), a genetically determined neurodevelopmental disorder with different psychopathological and behavioural problems.
Methodology: A sample of 36 PWS patients (58.3% women) attended at the Endocrinological Department of the Corporació Sanitària Parc Taulí (Sabadell, Barcelona) was evaluated.
There are no studies about insight or awareness of illness in patients with Prader-Willi Syndrome (PWS). The objective of this study was to explore the level of awareness of the disorder, of the need for medication, and of the social consequences of the disease, as well as of its main symptoms in PWS. We also aimed to explore relationships between awareness and sociodemographic and clinical characteristics, and to compare all data with a matched sample of patients with psychosis.
View Article and Find Full Text PDFObjective: To explore motor praxis in adults with Prader-Willi syndrome (PWS) in comparison with a control group of people with intellectual disability (ID) and to examine the relationship with brain structural measurements.
Method: Thirty adult participants with PWS and 132 with ID of nongenetic etiology (matched by age, sex, and ID level) were assessed using a comprehensive evaluation of the praxis function, which included pantomime of tool use, imitation of meaningful and meaningless gestures, motor sequencing, and constructional praxis.
Results: Results support specific praxis difficulties in PWS, with worse performance in the imitation of motor actions and better performance in constructional praxis than ID peers.
Endocrinol Diabetes Nutr (Engl Ed)
November 2019
Prader-Willi syndrome is a genetic disorder caused by chromosomal changes in segment 15q11-q13 including cognitive, mental, and behavioral symptoms, as well as a specific physical phenotype. Both the most common psychopathological changes (intellectual disability, obsessions, impulsivity, autism spectrum disorders, self-injuries) and the main psychiatric comorbidities (affective disorders, psychosis, obsessive-compulsive disorder, autism spectrum disorder) are characterized by a great heterogeneity, which warrants the need for better identification of their frequency and clinical signs. In addition to its effects on body compositionand hypotony, growth hormone has been shown to be useful for regulating patient behavior, and psychoactive drugs are also an option.
View Article and Find Full Text PDFWarning signals indicating that a food is potentially dangerous may evoke a response that is not limited to the feeling of disgust. We investigated the sequence of brain events in response to visual representations of disgusting food using a dynamic image analysis. Functional MRI was acquired in 30 healthy subjects while they were watching a movie showing disgusting food scenes interspersed with the scenes of appetizing food.
View Article and Find Full Text PDFContext: Prader-Willi syndrome (PWS) is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF) and leptin are reciprocally involved in energy homeostasis.
Objectives: To analyze the role of BDNF and leptin in satiety in genetic subtypes of PWS.
Unlabelled: Atypical antipsychotic-induced hyperprolactinemia can cause important clinical symptoms, particularly in young women and also in men, such as impotence, loss of libido, gynecomastia, anovulation and galactorrhea.
Methods: Observational over one-year follow-up of six patients (four women and two men, mean age of 31.1 years, range 26-37), treated with different atypical antipsychotics in an outpatient psychiatric device, who had clinical complications associated to high prolactin serum levels.
Med Clin (Barc)
November 2012
Patients with schizophrenia have a shorter life expectancy and their risk of dying from a cardiovascular disease is higher than the general population. Both facts have been attributed to the raised presence of metabolic syndrome. There is a big amount of scientific publications that deals with the relationship between schizophrenia, antipsychotic treatment, and the development of metabolic syndrome.
View Article and Find Full Text PDFIntroduction: Aripiprazole is a new antipsychotic agent that has proven safe and efficacious in controlled clinical trials. However, few published data on its effectiveness and safety when used in augmentation and combination are available.
Methods: Our study aimed to determine the functional effectiveness and safety of different combinations of aripiprazole with other psychotropics in resistant patients.
Our objective was to identify variables related to the onset of acute posttraumatic stress disorder (PTSD) after a road traffic accident. We evaluated 60 victims of a motor vehicle accident (MVA) in 2004 at 2 months postaccident. Thirty of them had developed PTSD; the other 30 had not developed PTSD.
View Article and Find Full Text PDFBackground: Thiopurinic immunomodulators are effective for maintaining symptom remission in Crohn's disease. Little is known, however, about their effect on patients' quality of life or psychological well-being. The present study aimed to determine whether remission induced by thiopurinic immunomodulators returns levels of quality of life and psychological well-being to normal.
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