The longitudinal progression of communication skills of individuals with Sanfilippo syndrome type B: a retrospective chart review

Sanfilippo syndrome type B is a rare genetic disorder typically causing central nervous system failure, which significantly impacts speech and language skills. Individuals with this disorder will typically experience initial period of development in their communicative skills before experiencing signs of significant regression. This study aims to examine how their communicative skills progress and regress. Using a retrospective study of seventeen participants, the results demonstrate an initial progression of receptive and expressive language skills, which range from low-average to below average on standardized testing; but then starts to regress to below to significantly below average skills starting around 3 years old. This study indicates the need for further research regarding their communicative skills and future evidence-based practice.