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muscle hypotonia/obesitas
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Validation of Sleep Questionnaires in the Down Syndrome Population
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Specific Aims:
1. Demonstrate the criterion validity of the Sleep-Related Breathing Disorder subscale of the PSQ as a screening tool for the diagnosis of OSA in children with Down Syndrome, using polysomnography as the gold standard.
Hypothesis: Compared to the published threshold for a positive
A Personalized Program of Physical Activity and Diet for Hypothalamic Obesity
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Hypothalamic obesity (HO) is defined as obesity secondary to impaired functioning of the hypothalamus nuclei, the central organ of energy and weight homeostasis. Among the causes of OH, there are those related to a hypothalamic lesion (lesional) such as craniopharyngioma (CP) or inflammatory
GH in Adults With PWS, Effect on Hypotonia Evaluated by Functional MRI, Relationship With Strength and Body Composition
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Effects of Transcranial Direct Current Stimulation (tDCS) on Individuals With Prader-Willi Syndrome
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Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder that affects about 1 in 20,000 births, regardless of sex or race. PWS is characterized by two clinical phases. In the first, the cardinal symptoms are: neonatal hypotonia, feeding difficulty, lethargy, weak crying and hyporeflexia.
Role of Sleep Apnea in the Neuropsychological Function in Down Syndrome People
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Down Syndrome (DS) is the most common cause of mental retardation with incidence of 1 in 848 (Lin, Hu et al. 1991). Although prenatal Down syndrome and Amniocentesis had been applied for years, in the survey of 2005, current birth incidence of DS is 1.6 in 10,000 live birth, meaning a 30-50 new
Intranasal Oxytocin vs. Placebo for the Treatment of Hyperphagia in Prader-Willi Syndrome
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Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder caused by lack of expression of paternally derived imprinted material on chromosome 15q11-q13. PWS is characterized by mild to moderate intellectual disabilities, repetitive/compulsive behaviors and rigidity, social cognition deficits
Post Exercise Irisin Levels in PWS Patients
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Experience With Growth Hormone (GH) in Children Under 2 Years With Prader-Willi Syndrome (PWS) in the Pediatric Endocrine Department of the Hospital of Sabadell
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Evaluation of Tolerance, Suckling and Food Intake After Repeated Nasals Administrations of Oxytocin in PWS Infants
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Prader-Willi syndrome (PWS) is a rare, complex multisystem genetic disorder arising from the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. The syndrome includes severe neonatal hypotonia with impaired suckling leading to failure to thrive in the most severe
Family-based Intervention for Youth With Prader-Willi Syndrome: The Active Play at Home Study
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Compared to other children, those with disability have additional challenges to being physically active. Prader-Willi Syndrome (PWS) is a genetic form of childhood obesity that is characterized by hypotonia, growth hormone deficiency, behavioral, and cognitive disability. In children, the low
Risk Factors For Postoperative Respiratory Complications After Anesthesia
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This is a retrospective project. Data will be used from Quality Improvement database for publication purpose. Data was collected from a prospectively collected database that was done as a Quality Improvement Project. The study sites included post anesthesia care units (PACU) of the main and
Pilot Study of Startle-response Test to Assess Transcranial Direct Current Stimulation-induced Modulation of Hyperphagia in Prader-Willi Syndrome
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PWS is characterized by hypotonia, feeding difficulties, developmental delay and failure to thrive during infancy, and by an insatiable appetite (hyperphagia), rapid weight gain and obesity in early childhood.
Hyperphagia is one of the most prominent and debilitating features of PWS, and currently
Tolerance of Intranasal Administration of OT in Prader-Willi Newborn Babies
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We want to evaluate the tolerance of the intranasal administration of OT in 6 infants with PWS genetically confirmed and its effect on suckling, milk intake and weight gain. The three first patients will have single nasal administration of 2 IU of Oxytocin and, if no adverse event has been observed,
Prader-Willi Syndrome and Appetite
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Prader-Willi Syndrome and Obesity:
Prader-Willi syndrome (PWS) is a genetic disorder occurring in 1/10,000 to 1/15,000 live births. Clinical characteristics include neonatal and infantile central hypotonia with feeding problems and poor weight gain followed after 1-3 years by hyperphagia and
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