WHAT IS SYNGAP?
SYNGAP NORMAL FUNCTION
The SYNGAP1 gene provides instructions for making a protein, called SynGAP, that plays an important role in nerve cells in the brain. SynGAP is found at the junctions between nerve cells (synapses) where cell-to-cell communication takes place. Connected nerve cells act as the “wiring” in the circuitry of the brain. Synapses are able to change and adapt over time, rewiring brain circuits, which is critical for learning and memory. SynGAP helps regulate synapse adaptations and promotes proper brain wiring. The protein’s function is particularly important during a critical period of early brain development that affects future cognitive ability.
Psychiatrist – Psychologist
Behaviorist (e.g., ABA)
Speech and Language Therapist
SYNGAP1-related non-syndromic intellectual disability (NSID) in humans was 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, noninherited) mutations. The use of genomic sequencing has dramatically increased the capacity of physicians to identify these mutations.
Symptoms of SYNGAP1 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
New Research Published in Nature Neuroscience
>85% of SYNGAP1 Patients have some type of Epilepsy
To learn more about the types click here
>50% of SYNGAP1 patients have been diagnosed with autism.
- Hand flapping
- Sensory Processing Disorder
- Obsessive-Compulsive Behavior
- Poor Social Development
No association has been found between ASD and the severity of ID, or between the location of the mutation on the gene.
Global Developmental Delay
Manifest in the first and second year of life
- Sitting unaided average 12 months
- Walking unaided average 2-3 years
Motor Coordination Issues:
- Axial and Facial Hypotionia
- Axtia or Gait instability
- Strabismus – Lazy Eye
3/4 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 >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
Sleep is managed with melatonin, clonidine or trazodone
Oral aversion and oral hypersensitivity are common
A high percentage of patients suffer from constipation
A small percentage of patients have G-tubes
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