Behavioural disorders and sleep problems in Sanfilippo syndrome: overlaps with some other conditions and importance indications.

Abstract

Sanfilippo syndrome (MPS III) is one of the types of mucopolysaccharidoses (MPS), a group of inherited metabolic diseases in which the accumulation of glycosaminoglycans (GAGs) results from deficiency of different lysosomal enzymes. The hallmarks of MPS III are relatively minor somatic abnormalities with severe and progressive central nervous system (CNS) symptoms. An analysis of the literature showed that the biggest problems for carers of people with MPS III are behavioural disorders and sleep disorders. Despite extensive discussions on improving the quality of life of patients, little attention was paid to the families/carers of patients. The families/carers are providing appropriate medical and palliative care to the patient every day due to their loss of mobility, self-care skills, tube feeding, airway clearance and other supports continue to have an adverse effect on the quality of life of families/carers. However, a literature review of possible solutions showed that effective methods (both pharmacological and non-pharmacological) exist. The needs of carers of MPS III patients should receive as much attention as the search for new treatments. There are many options for dealing with such problems. The key issue is to identify the source of the problem and choose the most effective therapy. Alleviating behavioural disorders, pain complaints and sleep problems will have a positive impact not only on the quality of life of carers/families, but also on the patients themselves.