Prader-Willi Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Prader-Willi Syndrome, including details on pws, symptoms, treatment, causes.

The effect of vision on postural strategies in Prader-Willi patients.

Cimolin V, Galli M, Vismara L, Grugni G, Priano L, Capodaglio P

Bioeng. Dept., Politecnico di Milano, piazza Leonardo Da Vinci 32, 20133 Milano, Italy; Orthopaedic Rehabilitation Unit and Clinical Lab for Gait Analysis and Posture, Ospedale San Giuseppe, Istituto Auxologico Italiano, IRCCS, Via Cadorna 90, I-28824 Piancavallo (VB), Italy.

The aim of this study was to quantify the role of visual contribution in patients with Prader-Willi syndrome (PWS) on balance maintenance using a force platform. We enrolled 14 individuals with PWS free from conditions associated with impaired balance, 44 obese (OG) and 20 healthy controls (CG). Postural sway was measured for 60s while standing on a force platform (Kistler, CH; acquisition frequency: 500Hz) integrated with a video system. Patients maintained an upright standing position with Open Eyes (OE) and then with Closed Eyes (CE). The ratio between the value of the parameter under OE and CE conditions was measured. Under OE condition PWS and OG were characterized by higher postural instability than CG, with the PWS group showing poorer balance capacity than OG. The Romberg ratio showed that while OG and CG had lower balance without vision, PWS maintained the same performance changing from OE to CE. The integration of different sensory inputs appears similar in OG and CG with higher postural stability under OE than CE. Balance in PWS is not influenced by the elimination of visual input.

Published 2 May 2011 in Res Dev Disabil.
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Articles on Prader-Willi Syndrome published 27 April 2011:

Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome.   Am J Physiol Endocrinol Metab, 300(5): E909-22.

Prader-Willi syndrome (PWS) is a multisystem disorder caused by genetic loss of function of a cluster of imprinted, paternally expressed genes. Neonatal failure to thrive in PWS is followed by childhood-onset hyperphagia and obesity among other endocrine and behavioral abnormalities. PWS is typically assumed to be caused by an unknown hypothalamic-pituitary dysfunction, but the underlying pathogenesis remains unknown. A transgenic deletion mouse model (TgPWS) has severe failure to thrive, with ... [Abstract] [Full-text]

Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother.   Eur J Paediatr Neurol, 15(3): 230-3.

Various rearrangements involve the proximal long arm of chromosome 15, including deletions, duplications, translocations, inversions and supernumerary marker chromosome of an inverted duplication. The large marker 15, that contains the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) chromosome region, is usually associated with an abnormal phenotype of moderate to severe mental retardation, seizures, poor motor coordination, early-onset central hypotonia, autism and autistic-like behavior, ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 26 April 2011:

Sudden proximal spinal dislocation with complete spinal cord injury one week after spinal fusion in a child with Prader-Willi syndrome: a case report.   Spine (Phila Pa 1976).

ABSTRACT: Study Design. Case report.Objective. To describe a sudden spinal cord injury in a girl with Prader-Willi syndrome (PWS) one week after posterior T2-L3 fusion.Summary of Background Data. PWS is a genetic disorder characterized by several features including growth deficiency, hypotonia, obesity, and spinal deformities. In PWS patients the prevalence of scoliosis and of kyphosis is reported to be 15-86% and 8-40%, respectively. Operative treatment carries specific and serious risks in ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 25 April 2011:

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.   Eur J Hum Genet, 19(5): 547-54.

Non-allelic homologous recombination (NAHR) between segmental duplications in proximal chromosome 15q breakpoint (BP) regions can lead to microdeletions and microduplications. Several individuals with deletions flanked by BP3 and BP4 on 15q13, immediately distal to, and not including the Prader-Willi/Angelman syndrome (PW/AS) critical region and proximal to the BP4-BP5 15q13.3 microdeletion syndrome region, have been reported; however, because the deletion has also been found in normal ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 22 April 2011:

The relationship between IGF-I concentration, cognitive function and quality of life in adults with Prader-Willi syndrome.   Horm Behav, 59(4): 444-50.

Mental retardation is one of the clinical characteristics of Prader-Willi syndrome (PWS) and in part of the patients growth hormone deficiency is demonstrable. Cognitive function seems to be influenced by insulin-like growth factor I (IGF-I); however, little is known about cognitive function in relation to IGF-I levels in PWS adults. The aim of the present study was to evaluate cognitive function in adult PWS patients in comparison to healthy siblings and to investigate whether there is a ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 21 April 2011:

Behavioral phenotypes of genetic syndromes with Intellectual Disability: Comparison of adaptive profiles.   Psychiatry Res.

The study of distinctive and consistent behaviors in the most common genetic syndromes with Intellectual Disability is useful to explain abnormalities or associated psychiatric disorders. The behavioral phenotypes revealed outcomes totally or partially specific for each syndrome. The aims of our study was to compare similarities and differences in the adaptive profiles of five most frequent genetic syndromes, i.e. Down syndrome, Williams syndrome, Angelman syndrome, Prader-Willi syndrome, ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 20 April 2011:

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.   Orphanet J Rare Dis, 6(1): 17.

ABSTRACT: Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis. Here, we report a de novo complex chromosome rearrangement that ... [Abstract] [Full-text]

Nutritional phases in Prader-Willi syndrome.   Am J Med Genet A, 155(5): 1040-9.

Prader-Willi syndrome (PWS) is a complex neurobehavioral condition which has been classically described as having two nutritional stages: poor feeding, frequently with failure to thrive (FTT) in infancy (Stage 1), followed by hyperphagia leading to obesity in later childhood (Stage 2). We have longitudinally followed the feeding behaviors of individuals with PWS and found a much more gradual and complex progression of the nutritional phases than the traditional two stages described in the ... [Abstract] [Full-text]

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