Barriers in Receiving a Diagnosis of Sanfilippo Syndrome: Perceptions from Healthcare Providers and Caregivers

Sanfilippo syndrome (MPS III) is a rare, degenerative condition characterized by symptoms impacting neurological functioning, behavior, and quality of life. Diagnosis is often not made until three to six years of age, but comprehensive and effective symptom management have been reported to optimize patient longevity. The aim of this study was to identify barriers to diagnosis and the corresponding impact on patients. This study surveyed healthcare providers and caregivers of individuals with Sanfilippo syndrome. Both quantitative and qualitative methods were employed to assess provider knowledge and comfortability in managing Sanfilippo syndrome. Additionally, it explored caregiver perspectives on healthcare system navigation, their child’s symptoms, and their experience with receiving the diagnosis. Both surveys assessed perceptions of access to, utility of, and benefits provided by genetic counselors as well as barriers experienced during the diagnostic odyssey of these patients. Five healthcare providers and seventeen caregivers met inclusion criteria and participated in the study. According to caregiver reports, the time from initial symptom onset to formal diagnosis was found to average 48.2 months. Caregivers reported provider lack of knowledge (70.6%) and general lack of knowledge (70.6%) regarding Sanfilippo syndrome as the greatest barriers to receiving a timely diagnosis. All providers reported lack of access to genetic services as one of the greatest barriers, which was found to be significant when compared to caregiver responses (p=0.002). Majority of family respondents agreed or strongly agreed that their child’s delayed diagnosis negatively impacted their health (64.7%) and eligibility for clinical trials (58.9%). Both groups were found to strongly agree on the importance of genetic counseling and earlier referrals (Spearman’s correlation ρ = 0.995, p < 0.001). Responses emphasize the need for ongoing education surrounding Sanfilippo due to diagnostic delays and highlight the importance of genetic counselors’ role in the diagnostic odyssey. Earlier diagnosis for these patients is crucial for symptom management, clinical trial eligibility, and improvement in quality of life.