Osteopathic Manipulative Treatment improves gait pattern and posture in adult patients with Prader-Willi syndrome
Prader-Willi syndrome (PWS) is the most frequent type of syndromic obesity and major clinical features include muscular hypotonia, early onset of obesity, short stature, scoliosis, developmental delays, reduced spontaneous physical activity, gait and postural disorders. Improving balance and walking ability in these patients could enhance their health status and quality of life.
Conclusions: If the general pediatrician bec omes more familiar with PWS, the diagnosis and treatment will start earlier, which is essential to improve the quality of life and care for these individuals.
Prader-Willi syndrome is characterized by severe hypotonia in infancy, with decreased lean mass and increased fat mass in childhood followed by severe hyperphagia and consequent obesity. Scoliosis and other orthopaedic manifestations of hypotonia are common in children with Prader-Willi syndrome and cause significant morbidity. The relationships among hypotonia, reduced muscle mass and scoliosis have been difficult to establish. Inactivating mutations in one Prader-Willi syndrome candidate gene, MAGEL2, cause a Prader-Willi-like syndrome called Schaaf-Yang syndrome, highlighting the importance of loss of MAGEL2 in Prader-W...
Prader- Willi Syndrome (PWS) is a multisystem genetic disorder. In infancy, patients are typically hypotonic and may fail to thrive, but as they grow older, many become obese and develop obstructive sleep apnoea (OSA). We aimed to determine the prevalence of the respiratory complications seen in our cohort of patients referred from a regional PWS clinic in London.We performed a retrospective casenote review of the 49 children with PWS seen from 2010 to 2016, highlighting conditions that could influence their respiratory status.The median age was 5.2[0.4-15.8][range]yrs, 27/49(55%)male, BMI z score 0.7[2.1] mean[SD]. Only 7...
Prader Willi syndrome, resulting from the partial deletion or lack of expression of a region of genes on the paternal chromosome 15, has a number of phenotypic features which predispose affected patients to ventilatory problems. These include generalised hypotonia, abnormal arousal and ventilatory responses to hypoxia and hypercapnia, scoliosis and fre quently, obesity. The spectrum of the resulting respiratory complications thus runs from sleep disordered breathing, to aspiration and respiratory functional impairment.