5p- Syndrome Resources for Newly Diagnosed Families
Most likely, the first time you heard the term Cri du Chat or 5p- syndrome was the day someone you love received the diagnosis. At Cri du Chat Research Foundation, we try to take some of the fear out of the diagnosis by providing information not only for new families but also for all families as their children continue to grow older. If you don’t find answers to your questions, please email info@criduchatresearch.org anytime. You are not alone – 5p- syndrome is a community of families just like you, devoted to helping.
Individual documents may be printed through links within this document. Here is a link to all printable materials listed below.
First Steps…
What is 5p- syndrome ? (link to the page on website covering this information) It is important for you to know your child’s genotype (where their deletion breakpoint is, do they have duplications etc?). Knowledge is power.
Provide your doctors with the ICD-10 Code (provide link to this info on website) & this medical consideration document (provide link once document is complete)
Connect with CDCRF (link to google doc ("register with CDCRF to receive the latest news, keep the 5p- syndrome Census up to date, and learn about potential studies and clinical trials. a support network of others with similar experiences will help make your life easier”)
Join 5p- syndrome registries (link to the page on website covering this information)
Print and/or save this checklist (provide link to document once complete) for these & other priorities
When you’re ready for more information…
Advice to those with recent diagnosis:
https://www.youtube.com/watch?v=sAd1Oez3qXQ
From Simons Searchlight, an SRF Partner – A Family Guide: Navigating Life After a Rare Genetic DiagnosisThe Basics
Medical resources
5p- syndrome ICD-10 code (link to ICD page) (give this code to all of your doctors)
Medical Consideration Documentation to share with all of your doctors (provide link here).
Doctors. Please fill out the form with the names and locations of doctors you have seen who have experience with 5p- syndrome so can develop a map of the locations of these doctors as a recourse for all 5p- syndrome. families.
Prepare for a future cure
Citizen Health (formerly Ciitizen)
Join the 5p- syndrome Registry at (provide link)
Every family can share their data for research
The single most important thing that families can do to help this community is to sign up for the Citizen Health Natural History Study at (provide link here)
Citizen Health (formerly Ciitizen) is the largest single study of 5p- patients
Close to 100 families in the US have already signed up making this the largest single study of 5p- syndrome patients in the world.
Simons Searchlight (Updated information & graphs August 2023 – (insert link to 5p- Quartly report)
(Studies (provide link)
(Therapeutic Pipeline (insert link)
We need to find a 5p- syndrome biomarker. Finding a biomarker is under our “clinical trial readiness” pillar.
CDCRF is hopeful — based on a number of biopharma companies we are in touch with — that there will be 5p- syndrome clinical trials in the near future. Finding a biomarker will help prepare for these trials now once a trial is ready to go. To be best prepared, it would be very helpful, if not necessary, to have a way to measure how a drug or therapy being tested affects the level of proteins in the patients. A 5p- syndrome biomarker associated with critical pathways for major contributor genes will help solve this problem. If we can identify a biomarker now, we will be ready to go as soon as a drug is ready to be tested.
Currently, there is one biomarker that exists for 5p- syndrome for a specific pathway. However, without biomarkers associated with critical genes it will be difficult to show to the FDA, during a trial, that a drug is working for 5p- syndrome patients.
What is a biomarker?
A biomarker helps determine if a drug works.
In general terms, a biomarker is an observation/measurement that can help researchers determine if a treatment is working for a particular disease. More specifically, a biomarker is a medical way to measure the progress of a disease or the effects of a treatment. So, instead of relying on patient or parent reports, observing changes in symptoms, etc., a biomarker is a more scientific and reliable way to determine whether or not a treatment works.
Overall, the predetermined biomarker measurement for a disease is compared with the measurements during treatment in order to observe any changes that result from the treatment.
What’s an example of a well-known biomarker?
Cholesterol & HbA1C
A well-known example of a biomarker is cholesterol for heart disease. High cholesterol has been found to be associated with high risk for heart disease. Therefore, if a trial drug for lowering risk of heart disease results in lowered cholesterol, we know that the drug is likely working.
A second example of a well-known biomarker is A1C levels for patients with diabetes. The A1C level of a patient serves as a biomarker for diabetes, and that predetermined level is compared with the levels during a trial drug treatment to see if the drug is working.
Why are we working to develop an EEG data to create a 5p- syndrome biomarker?
It makes sense.
As all 5p- syndrome families know, Epilepsy patients undergo EEGs to monitor abnormal brain activity. The hypothesis among 5p- syndrome researchers and other researchers working on NDD (neuro developmental disabilities) is that 5p- syndrome may have a unique pattern in these EEGs which could serve as a biomarker.
Since many patients with 5p- syndrome have had an EEG, the results if show a consistent pattern would be useful in trials for those individuals? If a drug changes that unique pattern (that we haven’t found yet) during clinical trials, then we could argue that the therapy works.
Families should submit your child's EEG (Not the report but the actual tracing) to Matrix. This will allow us to develop a biomarker using these EEG results. Biomarkers are essential for clinical trial design. We need your participation! Register for Matrix and submit your child's EEG tracing (from any point in their life) for our 5p- Syndrome EEG bank.
https://combinedbrainx.acrossmatrix.com/en-US/#/user-request
So why are we collecting biofluids (blood and saliva) too?
To cover our bases & save donors money.
We are hopeful that there will be an EEG biomarker, but it’s worth taking a closer look at blood and saliva as well. A number of researchers have asked for this.
Since we will already have patients in world-class medical centers, we want to collect samples in a consistent way and make them available to researchers who are looking at biofluides as biomarkers. This is the most cost-effective way to collect these samples.
What’s the plan?
Collect EEG data from patients, analyze data, determine a biomarker.
This grant proposes using EEGs to collect data on the brains of 20 Syngapians to then be analyzed in a second, related, grant to see if a biomarker could be made from that data. We need this data.
These 20 patients will be invited to either Boston Children’s Hospital or UCLA to complete two different EEGs, one year apart.
As part of the second grant, researchers will analyze the specific brain activity of SYNGAP1 patients, typically developing children, and patients with other synapse-related disorders to find activity that is unique to SYNGAP1.
Why is this a good investment?
It is catalytic: we are doing much more than funding EEGs and biosamples.
Who can participate?
Anyone signed up for Ciitizen!
Anyone enrolled in the 5p- Ciitizen Study can participate., if you are interested and willing please let CDCRF know. Being signed up for Ciitizen allows for patients’ full medical records to be readily available for analysis by researchers, and therefore available to be compared to the EEG/biofluid that is collected. You can sign up for Ciitizen at no cost at this link. We encourage all 5p- syndrome patients to be signed up for Ciitizen to help further 5p- syndrome research and get access to opportunities to participate in studies like this, as well as clinical trials in the future.
Planning for your financial future
The Arc Financial Planning Video Series (insert link here to The Arc Financial Planning Video Series)
EnABLEing Financial Security for your loved one with 5p- syndrome – Setting up a 529 ABLE Savings Plan! (insert link to Able document)
Long Term Planning for your loved one with 5p- syndrome. Patients: It’s never too soon. (insert link to doucment about why its not too soon to develop a special needs trust)
Take care of yourself (insert grief document here)
About Cri du Chat Research Foundation (about CDCRF page link)
Stay up-to-date ( link to newsletters (Sign up to receive our newsletter by sending us your email at bottom of this page), link to webinars, CDCRF press releases
Ways to help (link document here)
Community (insert link here)
The Basics
Learn about SYNGAP1
SYNGAP1-related disorders was discovered in 2009
Five things every parent needs to know (blog post)
SYNGAP1 vs. SynGAP: What’s the difference? (blog post)
SRF | Dr. Ana Mingorance’s message for the 2023 Cannonball supporting SYNGAP1 research (video)
Behaviors
Severe Behaviors and Advocacy (webinar)
Cultivating hope with ABA: Behavior managment strategies for SYNGAP1 patients (webinar)
SSB30 Study: Seizures, Sleep & Behavior Study – 30 consecutive days of data – Ciitizen / SYNGAP1 (Webinar)
Cognition, behavior & clinical trials in SYNGAP1 (Webinar)
BioPsychoSocial Approach to SYNGAP1 Severe Behaviors (Chart)
Severe behavior problems in SYNGAP1-related disorders: A summary of 11 consecutive patients in a tertiary care specialty clinic (Paper published in Science Direct)
SYNGAP1: Background, Development, and the Impact on Children (document)
Advice to those with a recent diagnosis
An Emotional Journey Begins – After a SYNGAP1 Diagnosis (blog post)
A message to the newly diagnosed SYNGAP1 parent (blog post)
Melissa’s Story (blog post)
We Were Searching for Syngap; We Just Didn’t Know It (blog post)
Why Getting a Genetic Diagnosis Matters, Especially for SYNGAP1 (blog post)
Life After Diagnosis Day (film by Disorder Rare Disease Films)
From Simons Searchlight, an SRF Partner – A Family Guide: Navigating Life After a Rare Genetic Diagnosis
Medical resources
SYNGAP1 ICD-10 code (give this code to all of your doctors)
Medical Consideration Doc to share with all of your doctors (Documento de Consideraciones Médicas en español está aquí)
Achieving Equity For All People With Autism – written by Jackie Kancir, this is an important article about the variability of autism and danger of grouping all those with a diagnosis into one category; share with all your providers
Doctors – our webpage includes the Medical Consideration Document, a form to share with others names and locations of doctors you have seen who have experience with SYNGAP1, and a map of the locations of these doctors
Medications (A search of our website for “Medications” will provide numerous resources; however, these are simply experiences related by other SYNGAP1 families and do not in any way constitute medical advice for you or anyone else. Please consult your doctor for any and all specific recommendations.)
DNA Decoder – a tool used to identify the specific mutation of SYNGAP1; definitions of the various mutations is also included
Prepare for a future cure
Why are Natural History Studies Important? Watch here.
Citizen Health (formerly Ciitizen)
Benefits of Joining the Citizen Health Community (webinar)
Simons Searchlight (Updated information & graphs August 2023 – link)
Rare-X
Studies
Clinical Trials
Therapeutic Pipeline
In Search of a SYNGAP1 Biomarker (blog post)
Cognition, behavior & clinical trials in SYNGAP1 (webinar)
Planning for your financial future
Zoom Meeting with Carmen Peterson – Special Needs Trusts
EnABLEing Financial Security for your Syngapian – Setting up a 529 ABLE Savings Plan! (blog post)
Long Term Planning for SYNGAP1 Patients: It’s never too soon (blog post)
Take care of yourself
Why Everyone Supports SRF: Meet 50 Families Behind SYNGAP1 Research – (blog post)
Weekly Zoom Meeting, Meeting ID: 972 0059 2178 & Passcode: 848417
More of Everything – (webinar & book by SYNGAP1 Mom Janie Reade)
Claiming Strength: Creating a Mental Fortress (book by SYNGAP1 Mom Michelle [Elle] Sanderson)
Grief and Resilience with our SRF Patient Advocacy Group (blog post written from Zoom Family Meeting; versión en español aqui)
“Ways to Help” – a few ways you could suggest to family & friends if or when they ask, “How can I help?” (by Effie Parks, from Once Upon a Gene)
“Welcome to Holland“ – poem by Emily Perl Kingsley
Self-Compassion: The Proven Power of Being Kind to Yourself (book by Dr. Kristin Neff)
Rare Caregiver Brochure (document from Amicus Therapeutics)
About SRF
Mission Statement
Our Founders – Mike Graglia & Ashley Evans
Our Team
Why Everyone Supports SRF: Meet 50 Families Behind SYNGAP1 Research
SRF Board of Trustees
SRF Scientific Advisory Board
SRF Clinical Advisory Board
Grants
SRF & SYNGAP1 – The Year in Review, 2023
SRF 5-year anniversary newsletter
SRF by the Numbers – 2022
Stay up-to-date
SynGAP10 Podcast
Newsletter
Webinars
Blog Posts
Read SYNGAP1 & SRF press
Ways to help support SRF and spread awareness of SYNGAP1
Get Involved
Fundraising – contact Anthony@cureSYNGAP1.org
Shop SRF’s Amazon Storefront
Volunteer
Social Media – follow, like & share content, repost
Spread the word about SRF by handing out (or sending the link to) our SRF Brochure!
Share your Warrior’s story; Siblings can share their story too! Contact Allison@cureSYNGAP1.org
Share Your Story – write a blog, be a guest on SYNGAP1 Stories – contact Ed@cureSYNGAP1.org; or on our Spanish podcast Café SYNGAP1 – contact Merlina@cureSYNGAP1.org
Talk with your local Media – SRF has prepared guidelines to help you
Community
SYNGAP1 Conferences, hosted by SRF
2023 Orlando – Science Day, Family Day
SYNGAP1 Warriors
SYNGAP1 Siblings – Stories and Support
Podcasts – news, family stories, en español, and more on the way! Listen to them all.
Volunteers
Why Everyone Supports SRF: Meet 50 Families Behind SYNGAP1 Research
Family Movies
Facebook Groups
SynGAP Global Network – Global collaboration between SYNGAP1 organizations and advocate groups around the world: website & Facebook Group
TikTok
Weekly Support Meeting
Contacts – SRF Leaders
Rare Science & SRF Rare Bear Program
Education & Advocacy
SRF Legislative Advocacy Efforts On Behalf Of Those Living With SYNGAP1 (webpage)
Augmentative & Alternative Communication Devices (link for ‘lending libraries’ by state that lend AAC devices for you to try out)
SYNGAP1: Background, Development, and the Impact on Children (document)
Stella Stays In School: Getting Educational Needs Met (blog post)
A Message To The Newly Diagnosed SYNGAP1 Parent (blog post)
Severe Behaviors and Advocacy (webinar)
SRF | Become an Advocate (Family Zoom Meeting recording)
SRF – Our Voice is Getting Louder for SYNGAP1! (blog post)
Six Steps to Connecting the Dots (webinar)
Let Me Hear YOUR Voice: Effecting Change through Effective Advocacy (webinar)
Achieving Equity For All People With Autism (article by Jackie Kancir)
Emergency Room IDD Stabilization Protocol (paper)
Functional Behavior Assessment (descriptive document about a process schools often use to figure out what your child is saying through their behaviors so they can come up with possible solutions)
Older Syngapians
Navigating Adulthood with SYNGAP1: Resources and Support for the Caregiver (SRF webpage)
Long Term Planning for SYNGAP1 Patients: It’s never too soon (blog post)
More of Everything: One mom’s journey parenting her son with SYNGAP1-related Intellectual Disability (webinar)
Diapers & Pull Ups for Older Kids: A Mom’s Experience (blog post)
Melissa’s Story (blog post)
Your teenager was just diagnosed with SYNGAP1, processing through a new lens (webinar)
Consider IUDs in Teens with Disabilities for Menstrual Management (blog post)
What’s the Life Expectancy of Someone with SYNGAP1 (blog post)
EnABLEing Financial Security for your Syngapian – Setting up a 529 ABLE Savings Plan! (webinar)
Another Study suggests SYNGAP1 Rescue is possible (blog post)
A SYNGAP1 Diagnosis: Charlie’s Story (blog post)
Severe Behaviors and Advocacy (webinar)
Additional resources
Epilepsy Management
Autism
Sensory Processing Disorder – Star Institute
Apraxia – Apraxia Kids
Rare Diseases
National Organization for Rare Disorders (NORD)
General Support
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