Parents Speak Survey 2

Following up on the insights and understanding of our first parents speak survey, along with feedback we've collected from the DEE community, we're thrilled to launch the parents speak survey 2 (PSS2)!

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Our Goals with PSS2

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Understand specific aspects of the developmental presentation and trajectory of individuals with genetic conditions that impact the brain (neurogenetic) and epilepsy conditions to provide important information for test development, clinical trials and clinical care
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Test new adapted measures that may better capture developmental domains
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Find ways to measure meaningful changes in development over time and in response to therapies
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Understand family functioning and well-being and the economic impact of caring for a child with neurogenetic and epilepsy conditions

Why This Matters

Finding the best way to measure development and behaviors of individuals with neurogenetic or epilepsy conditions is a CRITICAL part of understanding how well treatments work. With disease-modifying treatments on the horizon, there is hope that these treatments may impact development and behavior. Without nuanced and sensitive measurement tools that can measure change, it is impossible to demonstrate if small but meaningful changes occur in response to a new therapy. Treatment trials that do show improvements in these tools also must provide information to show the benefits are meaningful, for regulators to approve the treatments.

In PSS2, we are still focused on improving measurement for the most profoundly impacted, but are also including individuals with a wider range of ability levels to make sure we can measure the full range of developmental skills in people with neurogenetic or epilepsy conditions!

We realize that many Parent Advocacy Groups (PAGs) may also be collecting natural history studies (information about the natural course of a condition). This study does not interfere with that!

Our study collects some general information but we are focused on developing, adapting and validating measurement tools that work best for those with neurogenetic and epilepsy conditions, especially those who are the most profoundly impacted. Disease-specific studies and PSS2 are critical for advancing knowledge on measures for clinical trials!

PSS2 Town Hall

Parents Speak 1 - Survey Highlights

Key findings from DEE Parents Speak 1:

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The top priority for most parents was communication. Motor and challenging behavior were also reported as top priorities. This was true no matter the cause of the child’s medical condition.
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Challenging behavior was a more of a priority when the individual had a higher level of motor functioning.
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There are some current measures of development and learning that may have potential for use in clinical trials, but they need modifications.
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Small steps in awareness and responsivity, which are important for cognition, make a big difference to quality of life.
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Cortical vision impairment (CVI) is common in this population and we need to understand it more and find the best way to measure it.

Frequently Asked Questions

What if my disease-specific Parent advocacy Group (PAG) is also collecting a survey?

This study helps us get ready for clinical trials that will study treatments for rare diseases. We need assessment tools that accurately measure development, behavior, and family well-being for individuals with neurogenetic and epilepsy conditions. Pharmaceutical companies need this information when they are developing new treatments and studying if they work. Even with different causes, there is a lot of similarity in development and behavior across these conditions. Joining together allows us to get big numbers of participants more quickly and makes sure we are ready when new treatments are ready to be studied!

What will I need to complete this study?

You will only need a computer, smartphone, or tablet to complete the study. You also need an email to create an account and log in to take the survey. You do not need your relative’s medical records.

How long will the survey take?

This survey takes 2 - 2 ½ hours to complete. We’ve included only the most important questions about development, behavior, and family life- all chosen because they truly matter to families like yours. Thank you for helping us gather this important information.

Do I have to finish the survey all at the same time?

No! You have up to 2 weeks to complete the survey. You can start and stop as many times as you need to finish the survey. You will only need to login back into the survey with your login name and password.

What if taking a survey online is hard for me? Is there another way I can take the survey?

Yes! Send an email to inchstone@deepconnections.net or call us (phone number coming soon!) if you would like to complete the survey with paper and pencil.

How many times will I need to complete this survey?

We are hoping families will complete this survey once a year for 5 years. It is important that we collect data multiple times, so that we can see how well the assessment tools measure change.

What will you do with the results?

We will share data with Patient Advocacy Groups (PAGS) that request the data, as long as they have received ethical approval. For groups that have at least 20 participants, we will share summarized results from the survey for individuals in that group. We will publish results in journal articles to make sure other clinicians and researchers also learn from what we are doing.

How will my personal information be protected?

This study has been approved by Northstar Ethics Review Board, which means that a group created to protect humans who participate in research has looked at the study and thinks it is safe. We are not collecting any personal information that could be used to identify, except for birthdate. We will save all the data in a password-protected database that only the Inchstone Project researchers will have access to. We may share data with other researchers.

Who will have access to the results?

We may share results with PAG leaders and/or Industry sponsors working on relevant indications. Any information that we share will be de-identified, which means that we will not share any data that someone could use to identify you. We will publish results in journal articles and talk about results during conference presentations, but no identifying information will be included.