Regression Trends & Treatment Effectiveness to Improve Quality of Life for a Pre-Adolescent Girl with MPS IIIA

Kimberly A. Schreck, Cortney Helsel, Alisha Paxon, Kasey Weston, Mia Daniels

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Children with Mucopolysaccharidosis type IIIA (MPS IIIA/Sanfilippo Syndrome) have a rare lysosomal storage disorder. As these children age, they exhibit increasing numbers of symptoms representative of autism spectrum disorder, cognitive and communication regression, and behavior problems. Regression typically begins by approximately 6 years of age with loss of verbal communication and eventual motor regression. No treatments or cures exist for the physical manifestations or regression with the disorder with most professionals and researchers concentrating on palliative care. The current study provides seven years of longitudinal data for a 12-year-old girl with MPS IIIA. Data illustrated a day-to-day description of her communication skill regression. Descriptions and data included communication intervention, augmentative communication instruction, imitation motor-skill development and retention, and behavioral reductions using Applied Behavior Analysis (ABA). Data related to communication regression indicated high word retention variability directly before loss of speech. Data also indicated that ABA was successful in (a) teaching augmentative communication skills even after her cognitive and communication regression, (b) in learning and maintaining motor skills (e.g., hand use, mobility, and body stability), and (c) in reducing behavior problems (e.g., pica, hand mouthing). This study suggests that ABA may provide instructional techniques resulting in continued communication methods, maintenance of motor mobility, and reduction of unsafe behaviors for children with MPS IIIA. More research needs to be conducted to expand care for these children from only palliative care to treatments for increasing quality of life.

Original languageEnglish (US)
Pages (from-to)545-558
Number of pages14
JournalJournal of Developmental and Physical Disabilities
Issue number4
StatePublished - Aug 1 2018

All Science Journal Classification (ASJC) codes

  • Physical Therapy, Sports Therapy and Rehabilitation
  • Developmental and Educational Psychology


Dive into the research topics of 'Regression Trends & Treatment Effectiveness to Improve Quality of Life for a Pre-Adolescent Girl with MPS IIIA'. Together they form a unique fingerprint.

Cite this