OBJECTIVE this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. METHODS thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n=10), Prader-Willi syndrome (n=11), and Fragile X syndrome (n=13) from the...

Although maladaptive and compulsive behaviors are increasingly well-described in young persons with Prader-Willi syndrome, it is unclear how these problems manifest in older adults with this syndrome. In Part I, I compared maladaptive and compulsive behaviors in 45 older adults with Prader-Willi syndrome (ages 30 to 50 years) to 195 children, adolescents, and young adults. Young adults were at ...

INTRODUÇÃO: A Síndrome de Prader-Willi é um raro distúrbio genético causado pela perda uma parte do cromossomo 15 paterno, podendo gerar diversos problemas ao paciente, como, hipotonia, hiporreflexia, letargia, dificuldade sucção, entre outros. OBJETIVOS: Este estudo tem como objetivo demonstrar a variedade apresentações clínicas da síndrome, sua epidemiologia, fisiopatologia, bem importância d...

Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism. We present a 17 year-old...

microdeletion syndromes are contiguous gene deletion syndromes of less than 5 megabases.  most often, many of these syndromes are not detectable by  routine chromosomal analysis and require more specific testing techniques such as fish or more accurate general coverage like array comparative genomic hybridization.  as many of these syndromes are phenotypically recognizable and allow for easy cl...

A 28 year old woman with the Prader-Willi syndrome developed chest pain and loss of anterior R wave amplitude on the electrocardiogram. Cardiac catheterization demonstrated a severe proximal stenosis of the left anterior descending artery with delayed antegrade flow together with antero-apical akinesia consistent with myocardial infarction. Physicians involved in the management of patients with...

Prader-Willi syndrome (PW) is a rare genetic disorder with multi-organ system involvement. These patients present many perioperative challenges including sleep-related breathing disorders, morbid obesity, thick salivary secretions, mental retardation, and difficult intravenous access. PW has been suggested to be associated with central adrenal insufficiency. We report a novel case of persistent...

A case, diagnosed clinically as the Prader-Willi syndrome, was shown by Giemsa banding, to have a 15/15 chromosome translocation. A review of the literature indicates that such a translocation has only been described once before, in a normal woman, but that chromosme abnormalities in the Prader-Willi syndrome most commonly involve the D group. The significance of this would be clarified by spec...