What are Neurodevelopmental Diseases?

What are Neurodevelopmental Diseases?

NEURODEVELOPMENTAL DISEASES

Neurodevelopmental diseases are disorders in which the development of the nervous system is affected. The development process of the nervous system includes the period in the womb, infancy and early childhood. In the disruptions that occur in this process, the brain; cannot function properly such as emotion, behavior, learning, self-control, memory and motor skills.

SYMPTOMS

Neurodevelopmental diseases; It manifests itself with symptoms such as learning disability, attention deficit, forgetfulness, hyperactivity, mental retardation, self-harm, delayed speech, delayed motor skills (late sitting, late walking, etc.), seizures.

Some of the Neurodevelopmental Diseases:

  • Attention Deficit Hyperactivity Disorder
  • Autism Spectrum Disorder
  • Mental Retardation
  • Motor Disorders
  • Neurogenetic Diseases: Epilepsy, cerebral palsy
  • Specific Learning Disabilities

DIAGNOSIS

An important part of neurodevelopmental diseases occur due to genetic problems. For this reason, it is stated in many guidelines that these patients should be evaluated by a Medical Genetic physician and genetic testing should become a standard diagnostic practice.

The Main Tests We Use in the Diagnosis of Neurodevelopmental Diseases :

  • Chromosome analysis
  • Chromosomal microarray
  • Exome sequencing
  • Optical mapping
  • Fragile X disease test (detection of FMR1 CGG repeat number)

WHAT ARE THE BENEFITS OF GENETIC TESTING?

Hastalığın Tanısının Konulması :

  • Can shape the patient's medication management.
  • It can give information about the prognosis (the course of the disease).
  • It can give information about other members of the family about carrying the disease and transferring it to the next generations.