Rett syndrome: approach to nutrition and gastrointestinal disorders

Reference:
4_ᅠDr. V.ᅠCarmine

Abstract:
The nutritional problems in the context of complex neurological conditions, involving different aspects, behavioral and neurological dysfunctions oromotorie closely. These include oropharyngeal dysfunction, sensory deficits, reduced mobility of the tongue, difficulty in chewing and swallowing food, in fact a reduced tone of the muscles of the head and neck may cause poor ability to win the consistency of the food. In addition, one or all stages of salivation may be involved (oral, pharyngeal, esophageal), and also compromised because of impaired breathing. It is important to remember that the presence of epilepsy and the consequent use of medications can cause drooling, sedation and changes in appetite, which can be further worsened by the presence of persistent constipation. In some cases, due to severe malnutrition, it was necessary to enteral nutritional support, as the only means for the improvement of nutritional status. For this purpose seems to be preferable to the naso-gastric tube, for short-term treatment. As already reported for other conditions involving neurological development, gastroesophageal reflux should be suspected in the presence of substantial weight loss, appearance of symptoms of post-prandial vomiting following ingestion of food and persistent cough. A disorder frequently reported in the SR (present in approximately 85% of subjects) is constipation. The cause is multifactorial, such as lack of physical activity, hypotonia, inadequate diet, poor fluid intake, scoliosis, and concomitant use of drugs, resulting in the development of functional megacolon. Constipation may also be present in the first years of life and tends to worsen over time if left untreated. Fortunately, early intervention can improve the chances of a full resolution of the problem also. It may take months of treatment before it can be suspended a maintenance drug. Each patient requires an individual approach that takes into account its age, type of constipation, medication history and food preferences. Purpose The feeding difficulties in Rett syndrome are known for some time now, there is in fact, with advancing age, with a progressive loss of weight, reaching values ??of BMI well below the 3rd percentile. The purpose of this project is to assess the nutritional status and identify gastrointestinal disorders, in a group of 40 patients with Rett syndrome, resulting in elaboration of a specific dietary plan, in order to improve the quality of life of patients and their families.

PROJECT DETAILS 

beginning: 2008.

end: 2010.

Country of research: Italy

Counry of funding source: Italy

Funding organization: AIRETT

Financing: PRIVATE FUNDERS – 50 000 €

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