ABSTRACT Mucopolysaccharidosis type IIIA (MPS IIIA/Sanfilippo Syndrome), a rare lysosomal storage disorder, causes significant communication delays and regression in affected children. The majority of children lack or lose verbal communication by 6 years. Since no treatments or cure exist, professionals and researchers typically have concentrated on palliative care. The current paper provides a 10‐year longitudinal retrospective case study of teaching communication for a young girl with MPS IIIA across three phases (Phase 1 pre‐symptomatic, Phase 2 regression, and maintenance of Phase 2). Results showed the effectiveness of ABA methods for teaching communication. Even at 13 years‐old, the child showed higher rates of Augmentative and Alternative Communication (AAC) requests from Phases 1 and 2 and continued to use additional preferred requests across multiple preferred categories. This study suggests the need for additional research in expanding pre‐emptive and ongoing interventions to possibly increase and maintain skills that could lead to children with MPS IIIA's ability to continue to communicate across the diagnosis‐associated progressive skill regression.
Schreck et al. (Wed,) studied this question.