Bridge the Gap – SYNGAP – Education and Research Foundation

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.

Healthcare Team

  • General pediatrician
  • Developmental pediatrician
  • Neurologist
  • Psychiatrist – Psychologist
  • Gastroenterologist
  • Behaviorist (e.g., ABA)
  • Speech and Language Therapist
  • Physical Therapist
  • Occupational Therapist
  • Orthopedist

Signs & Symptoms

  • Intellectual disability
  • Global developmental delays
  • Seizures (absences, myoclonic, drop attacks, reflex)
  • Autism spectrum disorder
  • Behavioral abnormalities (inattention, impulsivity, aggression, rigidity)
  • Hypotonia (low muscle tone)
  • Late walkers (14 – 30+ months of age)
  • Impaired language development
  • Dyspraxia (oral motor dysfunction)
  • Constipation
  • Pes planus (flat feet
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