This news follows my son Michael’s genetic test he had last summer recommended by Neurologist. The thought was to see if he had a epileptic disorder that potential had a treatment plan for his refractory epilepsy. What we found out was that he did have an epileptic disorder, but rare, Syngap1. This revelation continues to intrigue and surprise me each step of the way. The first being, that most people identified are under the age of 10 years of age and the second, Michael is one of the oldest identified. Michael is 36 years of age and I feel as though I am learning all over again. So what is Syngap1, below is from https://bridgesyngap.org/what-is-syngap1/
SYNGAP1-is a related non-syndromic intellectual disability (NSID) in humans first reported in 2009 and is one of the first genes found to be associated with NSID. Since initially described, an increasing number of children with SYNGAP1-related NSID have been identified, suggesting that it may represent one of the most common causes of ID. SYNGAP1-related NSID is a sporadic condition that is caused by de novo (spontaneous, non-inherited) mutations. The use of genomic sequencing has dramatically increased the capacity of physicians to identify these mutations.
- 100% of patients with pathogenic mutations have intellectual disability moderate to severe.
- A high percentage of SYNGAP1 patients have a high pain threshold, which interferes with learning.
- 85% of SYNGAP1 Patients have some type of Epilepsy
- 50% of SYNGAP1 patients have been diagnosed with autism. Characteristics include:
- Hand flapping
- Sensory Processing Disorder
- Obsessive-Compulsive Behavior
- Poor Social Development
Syngap1 manifest in the first and second year of life that also include:
- Sitting unaided average 12 months
- Walking unaided average 2-3 years
Motor Coordination Issues:
- Axial and Facial Hypotonia
- Ataxia of Gait instability
- Strabismus – Lazy Eye
75% of SYNGAP1 patients suffer from severe behavioral problems;
Types of Behaviors:
- Oppositional Behavior
- Self Injury
- Severely Impaired with delays in expressive & receptive speech development
- 1/3 of individuals with Syngap1 >5 years old remain non-verbal
- Verbal Patients ranges from single words to brief sentences
- Milder phenotypes have been observed in patients with mutations 1-4 as compared to
more severe phenotypes in exons 8-15
60% of patients reported sleep difficulties, both with initiation and maintaining sleep
- Oral aversion and oral hypersensitivity are common
- A high percentage of patients suffer from constipation
- A small percentage of patients have G-tubes
I can only imagine what parents of newly diagnosed children are feeling with all of this research information. I know for me, it reads like my son’s early life. For many years my focus has been specifically on Autism and his co-occurring diagnosis of epilepsy. This new research has helped me realize the depth of Michael’s neurology and that there is no co-occurring diagnosis, rather a whole genetic disorder intricately linked to one another. I would encourage family members of adolescents and adults with autism, intellectual disabilities and seizures to consider genetic testing.