Developmental and Degenerative Patterns Associated With Cognitive, Behavioural and Motor Difficulties in the Sanfilippo Syndrome: An Epidemiological Study

Epilepsy in Children With Mucopolysaccharidosis: Epidemiology, Clinical and Electroencephalographic Features

“…Пациенты с МПС III, характеризующегося пораже-нием центральной нервной системы [18], имеют самый высокий показатель распространенности эпилепсии -от 26 до 52% [20,21,23]. Распространенность несу-щественно отличается среди четырех подтипов МПС III, но более ранний дебют эпилепсии был установлен у боль-ных МПС IIIа [24].…”

Retards mentaux d’origine génétique

“…Le diagnostic pré coce de maladie de Sanfilippo est donc difficile. L'é volution à moyen et à long terme est extrêmement sé vè re aboutissant à une dé mence profonde, une surdité mixte, une té traparé sie spastique et une cyphoscoliose [36].…”

Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III

“…Most families concentrate on creating a safe environment for their affected family member in combination with the use of various medications. The use of medication to modify behaviour in this patient group is well known (Cleary & Wraith, 1993;Nidiffer & Kelly, 1983) but poorly studied owing to the rarity of MPS III. Nidiffer and Kelly documented the use of a wide variety of medications for behaviour management in their survey of 30 patients with MPS III (Nidiffer & Kelly, 1983).…”

“…Behavioural problems in MPS III are a major cause of morbidity for families (Bax & Colville, 1995;Nidiffer & Kelly, 1983;Valstar et al, 2008). These children and young adults are frequently difficult to manage in the home environment , and behaviour modification approaches work modestly at best (Cleary & Wraith, 1993).…”