Tony (11, M) Story.  Now we sleep with the alarm on every night.

Elopement: 

Virginie (10, M) Stories and Service Dog.

Single Mom (9, M) heading to the judge and calls me asking for papers.  Here you go…

Let’s note that Elopement was masked behind broader buckets and I think this is a miss.  We need to name and discuss this very challenging behavior.

FB Survey.  4 hours.  100+ votes, 100 comments.   https://www.facebook.com/groups/syngap/posts/1734514154096968/

76% of respondents eloped (35% F, 41% M)

24% didn’t (17% F, 7% M)

Frazier, 2025. Extremely High finding as a Symptom of SYNGAP1.  See Table 2 of Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders

https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16112

McKee, 2025.  Notes the significantly heightened enrichment of Autistic Behavior and Behavioral Abnormality vs. Rett, Angelman or Epilepsy cohorts.  See Figure 2B of Clinical signatures of SYNGAP1-related disorders through data integration.

https://www.gimjournal.org/article/S1098-3600(25)00066-8/abstract

Cunnanne, notes impulsivity (which is a euphemism for elopement if I have ever heard one) and has three quotes in Table 1 (see below), but also notes in Figure 2 that both ASD and lack of danger awareness came up in almost every interview.  See SYNGAP1-Related Intellectual Disability: Meaningful Clinical Outcomes and Development of a Disease Concept Model Draft.  https://papers.ssrn.com/sol3/papers.cfm?abstract_id=5098346

Impulsivity quotes:

Runs toward streets - “He wouldn't stop himself from running into the road. He climbs things in that house that you're

like‘oh my god, how are you going to get out of that?’”

Jumps into pools - “He would walk into a pond. We were at the pool the other day…and he

just walked off the edge and just fell into the water and was like… he would have just drowned.”

Runs toward crowds - “She was a bolter. So that was always scary. We had a few scares where you look away for a

moment, I mean, we always had somebody with her, but it could be a moment's time and it's like

where'd you go, you thought she was right there.”

FUNDRAISING

3 events in 3 states… https://mailchi.mp/curesyngap1.org/3-events-1-mission-support-syngap1-families-this-fall?e=e95ed9a1c4 

Gala for SYNGAP1 August 22, 2025 - Farmingdale, NJ cureSYNGAP1.org/Gala5

Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25

Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble

Also, Conference is in 107 Days

https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

STUDIES - MATTER

https://docs.google.com/presentation/d/1yRPHMRY3pXPgbOacDM9Sr906VejdJWsonUWvqRD9VVI/edit?usp=sharing 

Pubmed is at 37 (One a week!)

SHARE BLOOD TO THE SRF BIOBANK AT CB!

Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ 

VOLUNTEER 

Join us: https://curesyngap1.org/volunteer-with-srf/ 

SOCIAL MATTERS

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NEWLY DIAGNOSED?

Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/

Resources

https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

Episode 178 of #Syngap10 

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS