BURDEN OF ILLNESS STUDY InTernational

Frequently Asked Questions

  • This study aims to better understand the experiences of people with Phelan-McDermid syndrome (PMS-SHANK3) and their caregivers. This includes caregiving responsibilities, healthcare and support service use, quality of life, daily activities, and out-of-pocket costs associated with caring for a person with PMS-SHANK3.

  • There is currently limited information about the experiences of people with PMS-SHANK3 and their caregivers. Better information can help researchers, healthcare decision-makers, and advocacy organisations better understand the needs and experiences of families affected by PMS-SHANK3.

    The results of this study may also help support future research and advocacy for people with PMS-SHANK3 and their caregivers.

  • You may be eligible to participate if you:

    • are an adult caregiver of a family member with PMS-SHANK3 who is 4 years of age or older;

    • live in Australia, Canada, Germany, or the UK;

    • care for a person with a diagnosis of PMS-SHANK3 confirmed by genetic testing who is currently receiving healthcare in Australia, Canada, Germany, or the UK; and

    • able to read and complete a survey in English (Australia, Canada, and the UK), French (Canada), or German (Germany).

  • If you are eligible, you will be asked to complete a confidential online survey that takes approximately 45 minutes.

    The survey includes questions about:

    • caregiving responsibilities

    • time spent providing care

    • healthcare and support service use

    • the impact of caregiving on your quality of life and daily activities

    • the impact of caregiving on your work or employment

    • out-of-pocket costs associated with caring for a person with PMS-SHANK3

    To determine whether you are eligible, you will be asked to complete a consent form, answer screening questions, and provide a copy of the genetic test report (or genetic test results) confirming the diagnosis of the person you care for.

  • The survey takes approximately 45 minutes to complete. It may take longer if you are answering questions about more than one person with PMS-SHANK3. You may pause the survey and return to complete it later if needed.

  • Yes. Your responses will be kept confidential and analysed in aggregate. No individual participant or family will be identified in any reports or publications.

  • There may not be a direct personal benefit from participating in this study. However, your participation may help researchers better understand the experiences of caregivers of people with PMS-SHANK3 and support future research and advocacy.

  • No. There is no cost to participate in this study.

  • The study is being conducted by Broadstreet HEOR in partnership with CureSHANK, with recruitment support from the Phelan-McDermid Syndrome Foundation (PMSF).

  • Please email us to express your interest or ask any questions about the study: PMSsurvey@broadstreetheor.com.