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.

Resource

Healthcare Team

General pediatrician

Developmental pediatrician

Neurologist

Psychiatrist – Psychologist

Gastroenterologist

Behaviorist (e.g., ABA)

Speech and Language Therapist

Physical Therapist

Occupational Therapist

Orthopedist

Diagnosis

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

Intellectual Disability

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

Epilepsy

>85% of SYNGAP1 Patients have some type of Epilepsy

To learn more about the types click here

Autism

>50% of SYNGAP1 patients have been diagnosed with autism.

Characteristics include:

  • Hand flapping
  • Sensory Processing Disorder
  • Self-Injury
  • 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

Motor Delays:

  • 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
Behavior

3/4 of SYNGAP1 patients suffer from severe behavioral problems

Types of Behaviors:

  • Hyper-excitability
  • Aggression
  • Oppositional Behavior
  • Tantrums
  • Self Injury
Language

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

Sleep Difficulties

60% of patients reported sleep difficulties, both with initiation and maintaining sleep

Sleep is managed with melatonin, clonidine or trazodone

Eating Difficulties

Oral aversion and oral hypersensitivity are common

A high percentage of patients suffer from constipation
A small percentage of patients have G-tubes

SYNGAP1 RESOURCE GUIDES

Agarwal M, Johnston MV, Stafstrom CE, Syngap1 Mutations:
Clinical, Genetic, And Pathophysiological Features, International Journal of Developmental
Neuroscience (2019), doi: Published Site

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