PubMed Journals Articles About "Autonomic Regulation In Prader-Willi Syndrome" RSS

20:27 EST 27th February 2020 | BioPortfolio

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Showing "Autonomic Regulation Prader Willi Syndrome" PubMed Articles 1–25 of 11,000+

Prader Willi syndrome: endocrine updates and new medical therapies.

Prader Willi syndrome is characterized not only by hyperphagia frequently resulting in obesity, but also by endocrine dysfunction across a variety of axes. This article reviews the most recent literature regarding possible causes of hyperphagia and the nature of endocrinopathies seen in Prader Willi syndrome, as well as current research into possible therapies.

Quality of life in caregivers of young children with Prader-Willi syndrome.

This study aimed to measure quality of life (QOL) in primary caregivers of young childrenwith Prader-Willi syndrome (PWS).

A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome.

Prader-Willi syndrome (PWS) is a complex genetic condition characterized by hyperphagia, hypotonia, low muscle mass, excess body fat, developmental delays, intellectual disability, behavioral problems, and growth hormone deficiency. This study evaluated the safety and efficacy of orally administered Diazoxide Choline Controlled-Release Tablets (DCCR) in subjects with PWS.

Reply to Commentary on 'Prevalence of growth hormone (GH) deficiency in previously GH treated young adults with Prader-Willi syndrome'.

Data sharing is not applicable to this article as no new data were created or analyzed in this study. We would like to thank the authors for their commentary as it gives us the opportunity to repeat our conclusion that adults with PWS should be treated with growth hormone (GH), regardless of GH stimulation test results. Our findings show that conventional testing for adult GHD is not reliable in adults with Prader-Willi syndrome (PWS). This article is protected by copyright. All rights reserved.

Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation.

Prader-Willi syndrome (PWS) and recurrent 15q13.3 microdeletion syndrome can be caused by genomic rearrangements in the complex 15q11q13 chromosomal region. Here, we describe the first female child with PWS and 15q13.3 microdeletion syndrome resulting from an unusual 10.7-Mb deletion from 15pter to 15q13.3 due to an unbalanced de novo 15;19 translocation. The patient presents with hypotonia, microcephaly, developmental delay with lack of speech, intellectual disability, happy demeanor, clinodactyly of the 4...

Prader-Willi Syndrome Coincident with DiGeorge Syndrome.

Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature.

Faces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognitive and behavioural difficulties including autism spectrum disorder, the literature referring to face processing is sparse. Given reports of poor social interactions in individuals with PWS, we sought to assess their face and emotion recognition skills during eyetracking recordings.

Cognitive functioning in children with Prader-Willi syndrome during 8 years of growth hormone treatment.

Children with Prader-Willi syndrome (PWS) have mild to moderate cognitive impairment. Short-term studies showed positive effects of growth hormone (GH) on cognitive development. This study investigated the effects of 8 years of GH on cognitive development in children with PWS. We also investigated whether starting GH during infancy results in higher cognitive functioning after 8 years of GH.

Comparison of Hip and Knee Arthroplasty Rates of Individuals With and Without Prader-Willi Syndrome.

Prader-Willi syndrome (PWS) is a complex genetic condition, affecting between 1:10,000 and 1:30,000. The prevalence of hip dysplasia in children with PWS is reportedly between 8% and 30%, but the long-term consequences of residual hip dysplasia remain largely unknown in this population. The purpose of this study was to comparatively estimate the number of total hip arthroplasty (THA) and total knee arthroplasty (TKA) procedures performed on adults with and without PWS, using a national hospital discharge da...

Profiles and trajectories of impaired social cognition in people with Prader-Willi syndrome.

People with Prader-Willi syndrome (PWS) have a distinctive behavioral phenotype that includes intellectual disability, compulsivity, inattention, inflexibility and insistence on sameness. Inflexibility and inattention are at odds with the cognitive flexibility and attention to social cues needed to accurately perceive the social world, and implicate problems in social cognition. This study assessed two social cognition domains in people with PWS; emotion recognition and social perception. We identified chan...

Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader-Willi syndrome retain maternal uniparental disomy (UPD).

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by loss of paternally expressed genes in an imprinted region of 15q11.2-q13. We established a human-induced pluripotent stem cell (hiPSC) line, KSCBi007-A, from the peripheral blood mononuclear cells of a 5-month-old girl with PWS that retained maternal uniparental disomy (UPD). Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) of genomic DNA revealed the maternal UPD in the hiPSCs. The generated hiPSC line exp...

Anthropometric characteristics of newborns with Prader-Willi syndrome.

This is a retrospective multicenter nationwide Italian study collecting neonatal anthropometric data of Caucasian subjects with Prader-Willi syndrome (PWS) born from 1988 to 2018. The aim of the study is to provide percentile charts for weight and length of singletons with PWS born between 36 and 42 gestational weeks. We collected the birth weight and birth length of 252 male and 244 female singleton live born infants with both parents of Italian origin and PWS genetically confirmed. Percentile smoothed cur...

Preliminary Characterization of Parent-Child Interaction in Preschoolers With Prader-Willi Syndrome: The Relationship Between Engagement and Parental Stress.

Early parent-child interactions (PCI) impact social cognitive development. Relatedly, children with various developmental disorders exhibit abnormal parental attachment relationships. Parental characteristics and behaviors can impact PCI and socioemotional development as well. No research has examined the parent-child dynamic in Prader-Willi syndrome (PWS), a neurodevelopmental disorder that presents with social cognitive deficits. This article provides a preliminary characterization of PCI quality and pare...

Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature.

In the present study, we report a case of a female infant with a de novo unbalanced t(14;15) translocation resulting in a 14-Mb deletion of the 15q11.1q14 region. The deletion includes the 15q11.2q13 Prader-Willi syndrome (PWS) critical region, while no known deleted genes are found in the 14qter region. According to literature review, patients with similar or larger deletions in the 15q region exhibit an expanded phenotype of PWS with case-specific atypical features such as severe retardation, absence of s...

A questionnaire study on sleep disturbances associated with Prader-Willi syndrome.

Background This study aimed to investigate the presence of sleep disturbances in children with Prader-Willi syndrome (PWS) using the Sleep Disturbance Scale for Children (SDSC). Methods The SDSC, which was designed to identify the presence and severity of different sleep disorders, was applied to 50 patients with PWS and 112 controls. Results Patients with PWS achieved worse scores in the sleep-disordered breathing and disorders in initiating and maintaining sleep in the SDSC questionnaire as compared with ...

Does SNORD116 mediate aspects of psychosis in Prader-Willi syndrome? Evidence from a non-clinical population.

The paternally expressed gene SNORD116 encodes a set of short nucleolar RNAs that affect the expression of hundreds of other genes via epigenetic interactions. Lack of expression for SNORD116 has been implicated in major phenotypes of Prader-Willi Syndrome (PWS). Rates of psychosis and autism spectrum disorders are greatly increased in PWS, but the genetic and epigenetic causes of these increases remain unknown. We genotyped a large population of typical individuals for five SNPs within SNORD116 and phenoty...

Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome.

Prader-Willi syndrome (PWS) affects 1/15,000-1/30,000 live births and is characterized by lack of expression of paternally inherited genes on 15q11.2-15q13 caused by paternal deletions, maternal uniparental disomy (UPD), or imprinting defects. Affected individuals have distinct physical features, and growth hormone (GH) deficiency occurs in some individuals with PWS. The aim of this study is to test the hypotheses that (a) individuals with deletions and UPD have different physical and dysmorphic features, (...

Autonomic dysfunction in restless legs syndrome.

Autonomic dysfunction in patients with RLS has been described in some domains; however, detailed studies on this subject are limited and report conflicting results. In this study, we aimed to evaluate autonomic functions electrophysiologically and clinically in patients with restless legs syndrome (RLS).

Thermoneutrality improves skeletal impairment in adult Prader-Willi syndrome mice.

Human Prader-Willi syndrome (PWS) is characterised by impairments of multiple systems including the growth hormone (GH) axis and skeletal growth. To address our lack of knowledge of the influence of PWS on skeletal integrity in mice, we have characterised the endocrine and skeletal phenotype of the PWS-ICdel mouse model for "full" PWS and determined the impact of thermoneutrality. Tibial length, epiphyseal plate width and marrow adiposity were reduced by 6%, 18% and 79% in male PWS-ICdel mice, with osteocla...

Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment.

Pediatric patients with Prader-Willi syndrome (PWS) can be treated with recombinant human GH (rhGH). These patients are highly sensitive to rhGH and the standard doses suggested by the international guidelines often result in IGF-1 above the normal range. We aimed to evaluate 1 the proper rhGH dose to optimize auxological outcomes and to avoid potential overtreatment, and 2 which patients are more sensitive to rhGH. In this multicenter real-life study, we recruited 215 patients with PWS older than 1 year,...

Transcutaneous vagus nerve stimulation (t-VNS): A novel effective treatment for temper outbursts in adults with Prader-Willi Syndrome indicated by results from a non-blind study.

Temper outbursts are a severe problem for people with Prader-Willi Syndrome (PWS). Previous reports indicate that vagus nerve stimulation (VNS) may reduce maladaptive behaviour in neurodevelopmental disorders, including PWS. We systematically investigated the effectiveness of transcutaneous VNS (t-VNS) in PWS. Using a non-blind single case repeat measures modified ABA design, with participants as their own controls, t-VNS was evaluated in five individuals with PWS [three males; age 22-41 (M = 26.8)]. After ...

Too much of a good thing? Curvilinear relationships between self-calming and autonomic responses in paediatric patients.

Based on the theory of self-regulation and the polyvagal theory, we hypothesise a curvilinear relationship between self-regulation and autonomic responses. We report findings of a pilot study that provides support for the proposed hypothesis. For some of the observed cases, the quadratic polynomial regression models the data better than the linear regression model, indicating curvilinear relationships between self-regulation and indicators of autonomic response. Consequences of the hypothesis and its releva...

Brain Responses in CFS and TMD to Autonomic Challenges: An Exploratory fMRI Study.

Dysfunction of the autonomic nervous system (ANS) is seen in chronic fatigue syndrome (CFS) and temporomandibular disorders (TMDs). Both conditions have poorly understood pathophysiology. Several brain structures that play a role in pain and fatigue, such as the insular cortex and basal ganglia, are also implicated in autonomic function.

Developing an understanding of skin picking in people with Prader-Willi syndrome: a structured literature review and re-analysis of existing data.

A search of the PubMed and Web of Science databases for articles on skin picking in PWS was undertaken identifying case studies; trials of specific treatments; and descriptions of when skin picking occurs, what sites are chosen, and what initiates and sustains this behaviour. Published papers have also considered how skin picking might link to the PWS genotype and whether it is best considered to be part of the repetitive and ritualistic behaviours characteristic of the syndrome. To answer specific question...

Autonomic medical practice viewed through the lens of physician-rating websites.

To survey online patient ratings of physicians practicing autonomic medicine.

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