Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series.

ABSTRACT: This follow-up study of a subgroup of the patients seen in a natural history study of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A) addressed the adaptive and medical characteristics of their advanced disease manifestations. Of the original 24 patients, specific data was collected on only 58% primarily due to difficulty in locating families and coordinating time for interviews two to four years after the original study. At the last contact with the patient, age range was 8 to 24years of age. Data were collected from telephone interviews from the Vineland Adaptive Behavior Scales II and medical and treatment history. We report the case data from rapid progressing and slow progressing patients separately. By the end of our data collection, 5 patients had died; 4 rapid progress

SUBMITTER: Shapiro E 

PROVIDER: S-EPMC7814869 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature