نتایج جستجو برای: willi syndrome
تعداد نتایج: 622258 فیلتر نتایج به سال:
Some individuals with Prader-Willi syndrome exhibit strengths in solving jigsaw puzzles. We compared visuospatial ability and jigsaw puzzle performance and strategies of 26 persons with Prader-Willi syndrome and 26 MA-matched typically developing controls. Individuals with Prader-Willi syndrome relied on piece shape. Those in the control group used a different, picture-focused strategy. Individ...
Prader-Willi syndrome is a genetic disorder. Psychiatric comorbidity can occur in persons with Prader-Willi syndrome varying from emotional and behavioural disorders characterised by impulsiveness, temper tantrums, with occurrence of other psychiatric disorders in the form of obsessive compulsive disorder, mood disorders and psychotic illnesses. We present 3 patients with Prader-Willi syndrome ...
BACKGROUND This three-part study examines previous clinical impressions that people with Prader-Willi syndrome have unusual jigsaw puzzle and word search skills. RESULTS Children with Prader-Willi syndrome showed relative strengths on standardized visual-spatial tasks (Object Assembly, Triangles, VMI) in that their scores were significantly higher than age- and IQ-matched peers with mixed men...
Prader-Willi syndrome is characterized by infantile hypotonia, childhood-onset obesity, short stature, mental retardation, hyperphagia, hypogonadism. After infantile hypotonia phase, patient is prone to morbid obesity due to hyperphagia. Complications associated with morbid obesity are recognized as the main risk factors for death the lifespan of patients with Prader-Willi syndrome. We experien...
Thirty one patients with the putative diagnosis of Prader-Willi syndrome were reassessed clinically and by DNA analysis. Eleven patients were judged not to have Prader-Willi syndrome and 20 to have the condition. This was confirmed by DNA analysis in all but one case. The diagnosis of Prader-Willi syndrome, especially in early infancy, should be made with caution unless confirmed by molecular g...
OBJECTIVE The purpose of this work was to detect brain developmental abnormalities in Prader-Willi syndrome by using diffusion tensor imaging based on a high-field MRI system. METHODS Eight patients with Prader-Willi syndrome and 8 age- and gender-matched normal control subjects were examined using a high-field (3.0 T) MRI system. Trace value and fractional anisotropy were assessed simultaneo...
objective prader-willi syndrome (pws) is a genetic syndrome presenting with severe hypotonia and decreased agility. growth hormone (gh), which is often used in these patients to treat short stature and obesity, seems improve hypotonia, physical strength, activity, and locomotor developmental ability. the aim of this study was to find the effects of growth hormone on agility and strength of thes...
Galactosaemia : a new severe variant due to uridine diphosphate galactose - 4 - epimerase deficiency
2 Emberger J M, Rodiere M, Astruc J, Brunel D. Syndrome de Prader Willi et translocation 15/15. Ann Genet (Paris) 1977; 20: 297-300. 3 Fraccaro M, Zuffardi 0, Buhler E M, Jurik L P. 15/15 translocation in Prader Willi syndrome. J Med Genet 1977; 14: 275-8. 4 Smith A, Noel M. A girl with the Prader Willi syndrome and Robertsonian translocation 45,XX,t(14;15) (p1 q1 1) which was present in 3 norm...
BACKGROUND Prader-Willi syndrome is a severely disabling genetic condition. Treatments are available, but there is no cure. Children aged up to 18 years may benefit from growth hormone treatment, which normalises height and assists in preventing obesity by decreasing fat mass and increasing muscle mass and physical ability. Adults, however, are treated predominantly for the many disabling secon...
Prader-Willi syndrome is a genetic neurobehavioral disease affecting children's development and resulting in obesity, reduced height, hypotonia, endocrine disorders and cognitive deficits, which may impair oral integrity. This study aims to report on a case involving a white male 15-year-old patient with Prader-Willi syndrome whose oral examination revealed bacterial plaque, gingivitis, poor oc...
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