What is Ring Chromosome 20 Syndrome?
Ring Chromosome 20 Syndrome is a chromosomal disorder that is the result of a ring that develops when a chromosome breaks in two places and the short arm of a chromosome has merged with the tip of the long arm.
This anomaly causes recurrent seizures during childhood. It is reported that the seizure can occur at anytime from during the day time to sleeping at night, it is very rare. In fact only 50 cases have been reported in research journals. However, this form of epilepsy can occur from birth to 17 years old.
What makes this rare form of seizures unique is that it does not respond to anti-epileptic medication. Vagus Nerve Stimulation (VNS) tends to be successful as well as the Ketogenic diet in reducing the number of seizures.
Children diagnosed with Ring Chromosome 20 Syndrome typically experience several types of seizures including:
- Focal seizure
- Non-convulsive status epilepticus
- Frontal lobe seizures
- Tonic seizures
- Generalized tonic-clonic seizures
Signs and Symptoms
Children with Ring Chromosome 20 Syndrome generally face challenges in the area of behavioral, learning disabilities and intellectual disabilities. In some instances, children may display physical characteristics including slow growth, short stature and a small size head.
Signs and Symptoms of Intellectual Disability
- Decrease learning ability
- Delays in crawling
- Difficulty solving problems
- Lack of curiosity
- Language and speech delays
- Poor motor skills
- Short attention span
- Use short and simple sentences
- Repeat directions
- use strategies for remembering such as clustering information together
- Provide immediate feedback
Signs and Symptoms of learning disabilities
- Difficulty recognizing non-verbal cues such as facial expression
- Fine motor skills difficulty
- Weak visual discrimination abilities.
- Use a multi-sensory approach
- Break into small steps
- use probing techniques
- use diagrams and pictures.