Prader–Willi syndrome (PWS) is a neuroendocrine genetic disorder resulting from the loss of paternally expressed imprinted genes in chromosome 15q11-q13 [...]

Background This study explores everyday social competence in the lives of persons with three genetic intellectual disability syndromes. Methods Using parent reports on the Social and Activity Competence domains of Achenbach’s Child Behavior Checklist (CBCL), socially competent behaviours were examined in 58 persons with Williams syndrome, 54 persons with Prader-Willi syndrome, and 65 persons wi...

Prader-Willi syndrome is a genomic imprinting disorder, characterized by obesity, hyperphagia, mental retardation, short stature and hypogonadism. The presenting signs and symptoms depend upon the age at which the patient is seen. Here we report a case of Prader-Willi syndrome, who presented at 16 years of age with diabetes mellitus and cryptorchidism.

This set of guidelines was designed to assist the pediatrician in caring for children with Prader-Willi syndrome diagnosed by clinical features and confirmed by molecular testing. Prader-Willi syndrome provides an excellent example of how early diagnosis and management can improve the long-term outcome for some genetic disorders.

An 8-year old girl with Prader-Willi Syndrome presenting with excessive daytime sleepiness improved following treatment with tryptophan; possibly by consolidation of her fragmented sleep. Improvement was recorded on a follow-up sleep study, one year after initiating treatment with tryptophan. We conclude that tryptophan may be an useful medication for excessive sleepiness in children with Prade...

Prader-Willi syndrome is a complex genetic disorder with narrow spectrum of facial phenotypic signs, which make the clinical diagnosis difficult in some cases. There are several reports describing the craniofacial appearance of Prader-Willi patients, but there are only a few cephalometric studies for these patients. In this study were included 18 patients with Prader-Willi syndrome and a contro...

Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY karyotype (Klinefelter syndrome) and coronal craniosynostosis. These are different unrelated conditions and it was not described before in the sa...

Prader-Willi syndrome is a neurogenetic disorder characterized by hypotonia and feeding difficulties in infancy, followed by hyperphagia, hypogonadism, mental retardation, and short stature. It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis, the first recognized human genomic imprinting disorder, and the first recognized disorder resulting fr...

BACKGROUND Prader Willi syndrome is a genetic disorder with a behavioural expression characterized by the presence of obsessive-compulsive phenomena ranging from elaborate obsessive eating behaviour to repetitive skin picking. Obsessive-compulsive disorder (OCD) has been recently associated with abnormal functional coupling between the frontal cortex and basal ganglia. We have tested the potent...

BACKGROUND Prader-Willi syndrome is a complex neurogenetic, multisystem disorder. Despite the variable endocrine abnormalities and hypothalamic-pituitary axis dysfunction, hyponatremia has been reported in only a few PWS patients. In previously reported PWS individuals, hyponatremia was associated with abnormal fluid intake or during desmopressin treatment. CASE PRESENTATION We describe an in...