This pilot study found some improvements in GAG concentration, hair morphology, and cognitive function in these pediatric patients with Sanfilippo syndrome treated with genistin-rich soy isoflavone extract for 1 year. Clinical trials are needed to evaluate the efficacy and safety of this potential treatment.
Despite normal intellectual abilities and relatively good physical condition, children after removal of craniopharyngioma experience many difficulties in everyday life regarding social relationships, emotion control and learning. The analogy between the above-mentioned symptoms and symptoms observed in patients after infantile damage in the frontal area leads to an observation that, apart from endocrine disorders, damage to the frontal lobe caused by the growth of tumour and operational intervention is of crucial importance to the further development of children with craniopharyngioma.
SummaryBackgroundMucopolysaccharidoses (MPS) are inherited metabolic disorders caused by deficiencies in enzymes involved in degradation of glycosaminoglycans. MPS type III (Sanfilippo disease) is clinically characterized mainly by progressive and severe behavioral disturbances and cognitive dysfunction. Recent 1-year experimental treatment of 10 patients with a genistein (4′, 5, 7-trihydroxyisoflavone)-rich extract resulted in improvement of tested parameters, including cognitive and behavioral functions.Material/MethodsEight pediatric patients with Sanfilippo disease were enrolled into the study. The modified version of the Brief Assessment Examination was used to assess cognitive functions. Moreover, 18 different parameters concerning changes in conditions of patients were assessed by their parents.ResultsDuring the first year of the treatment, an improvement of cognitive functions in 7 patients and stabilization in 1 patient were assessed, while after the third year (2-year follow-up) further improvement was observed in 2 patients, stabilization in 3 patients and some deterioration in 3 patients. Monitoring of general and behavioral symptoms revealed improvement in all patients after the first year of the treatment, further improvement in 5 patients, and deterioration in 3 patients during the next 2 years.ConclusionsWe conclude that the treatment of Sanfilippo patients with a genistein-rich soy isoflavone extract (called gene expression-targeted isoflavone therapy [GET IT]) may be effective in either inhibition (in some patients) or slowing down (in other patients) of behavioral and cognitive problems over a longer period. An increased dose of genistein may improve the efficacy of the treatment.
Long-term functional treatment outcome of cerebellar JPA is relatively favorable, in spite of permanent neurological deficits and emotional disorders in over half of the patients. Vermian tumors are associated with worse long-term functional outcome. Neurological deficits and emotional disorders do not preclude further education and independent functioning.
Prenatal treatment with Dex creates for CAH-affected females better conditions for cognitive development. The prenatal Dex in CAH-unaffected girls can cause the risk of unfavorable influences on the development of some cognitive functions. Therefore, it is recommended that prenatal treatment in CAH-unaffected female fetuses should be stopped as soon as possible after the exclusion of the disease.
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