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

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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 24 years 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 progressing patients between 8 and 12 years of age and 1 slow progressing patient at age 21. Two patients were in out-of-home placements in the year before they died. We found that the incidence of surgeries and epilepsy was relatively low and that behavior problems largely subsided. Adaptive levels were very low with children functioning at below a two-year age equivalent level in all adaptive functions, but motor skills were slightly more intact. Only one slow progressing patient was functioning above a three-year level. Parent burden had shifted from behavioral control to physical management. Although their quality of life was clearly negatively impacted by physical management and palliative care, parents were more able to cope and adapt to such demands than in the initial stages of the disease.

Original languageEnglish (US)
Pages (from-to)123-126
Number of pages4
JournalMolecular Genetics and Metabolism
Volume123
Issue number2
DOIs
StatePublished - Feb 2018

Bibliographical note

Funding Information:
Shire supported this study through an investigator initiated research grant “Observing the disease course in the natural history of Sanfilippo Syndrome Type A: A follow-up of SAN-053 participants” P.I. Elsa Shapiro.

Funding Information:
Additional support was provided by the Lysosomal Disease Network ( U54NS065768 ) is a part of the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), and NCATS. This consortium is funded through a collaboration between NCATS, NINDS, and NIDDK.

Keywords

  • Adaptive behavior
  • Advanced stage disease
  • Mucopolysacharidosis type IIIA
  • Survival

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