This study aims to better understand the full impact of Phelan-McDermid syndrome (PMS-SHANK3) on individuals and their caregivers. This includes healthcare needs, daily life impact, and out-of-pocket costs that families experience.

Right now, there is little data that captures the true burden of PMS-SHANK3. Without this information, the severity of the condition is often underestimated, which can slow research, limit investment in treatments, and affect access to support services. This study helps make the PMS experience visible and measurable.

Adult caregivers of a family member with PMS-SHANK3, who is aged 4 years or older, was diagnosed in the US, and is currently receiving healthcare in the US, are eligible to participate.

Participants will complete a survey about healthcare use, caregiving responsibilities, daily activities, quality of life, and related costs. The questions focus on real-world experiences and practical impacts. Participants will also have the option to share their health claims data.

The survey is estimated to take 45 minutes but may take slightly longer, especially if you are answering for two family members with PMS-SHANK3. Submitting EOB reports is expected to take an additional 15 minutes. You will be able to pause and return to the survey later if needed.

Yes. All responses will be kept confidential and analyzed in aggregate. No individual participant or family will be identified in any reports or publications.

While there may not be an immediate personal benefit, your participation helps build the evidence needed to support future research, treatment development, and advocacy efforts that benefit the entire PMS community.

No. There is no cost to participate in this study. Participants completing the survey for one family member with PMS-SHANK3 will receive $50 USD. Participants completing the survey for two family members with PMS-SHANK3 will receive $100 USD. Those uploading their Explanation of Benefits (EOB) will receive an additional $100 USD.

The study is being conducted by Broadstreet HEOR in partnership with CureSHANK.

Contact the research team at: PMSsurvey@broadstreetheor.com.