A new research project that is creating online measures specifically designed for genetic syndromes like SYNGAP1
Neuropsych evaluations - ah, something Syngap parents are most definitely familiar with! If you have a child even with just a mild disability, much less one with a rare neurodevelopmental disorder (NDD) such as Syngap1, you will have experienced at least one evaluation in your life. More likely, you will meet with a variety of evaluators on a regular basis.
We all know how important assessment or evaluation data is - especially when it comes to the type of data that helps to shed light on our children’s development and functioning. It is this data that essentially allows us to advocate for different supports and interventions, while giving us the opportunity to monitor progress over time.
Many families, however, are keenly aware of the difficulties traveling to specialty care centers for clinical evaluations. Travel is often expensive, time-consuming and stressful for everyone involved. While these evaluations are necessary for people with SYNGAP1 to receive the best care and for experts to learn more about each patient’s needs, it may be possible to reduce some of this burden by supplementing with online evaluation tools, easily accessible and facilitated through technology.
Dr. Thomas Frazier has begun a project that will develop an online measures that help caregivers (parents) and patients to provide information online from the comfort of their home. Dr. Frazier is an Autism expert and is keenly aware of the challenges we face with our patients and their spectrum of communication ability. He has asked SRF to recommend a SYNGAP1 expert to give him gene specific knowledge and we are grateful that Dr. Connie Smith-Hicks has agreed to collaborate with him.
Dr. Frazier seeks to address the lack of a tool specifically catered to collecting information from patients with neurodevelopmental genetic syndromes (NDGS) such as SYNGAP1. Many characteristics of existing tools are irrelevant to NDGS patients, as a result parents and clinicians waste valuable time together answering no to pages of questions. It is inefficient and depressing. Not to mention that data collection often requires difficult long-distance travel. We need a better tool. The new tool, designed with clinician, patient and caregiver involvement, will be more accurate, repeatable and sensitive to change than what is currently available.
The first set of measures allow caregivers to provide key data about their loved one across a range of different areas, such as sleep, anxiety, attention, and daily functioning. These measures are designed to be easy to complete, applicable to the full range of individuals with SYNGAP1, and can be repeated frequently to provide fine-grained tracking of progress.
A second set of measures will use webcam data to collect information directly from SYNGAP1 patients. These patient performance measures will look at attention to the screen, natural facial expressions, receptive language, and several other features. The measures will not require motor or verbal responses and, thus, are designed so that nearly every patient could complete them.
Dr. Frazier envisions that these measures will be freely-available to all clinicians and researchers and could eventually become an important part of the ongoing evaluation and tracking needed for SYNGAP1 and other genetic syndromes.
The project was primarily funded by the PTEN Research Foundation. However, the measures that are being created are expected to be relevant to many different genetic syndromes. For this reason, the SYNGAP Research Fund was asked to join the project so that the measures created are also designed for people with SYNGAP1. This structure allowed the SYNGAP Research Fund to join at a lower cost relative to most research projects, while also ensuring that this new, innovative tool is valuable to people with SYNGAP1.
SRF is excited to support this work and to partner with PTEN and other rare disease organizations. Collaboration is the first word in our mantra. By working together with the PTEN, ADNP, Malan & other communities with a committed researcher like Dr. Frazier, we intend to develop a tool that gives better insight into our patients and is less of burden on their families & caregivers.