According to the March of Dimes, about 1 in 150 babies are born with a chromosomal condition. Changes of the chromosome can occur through duplication, deletion or inversion (when the chromosome breaks off and reattaches in the opposite direction).
What is Ring Chromosome 22?
Ring Chromosome 22 is a rare disorder which occurs when a component of the short arm and a part of the long arm are missing which join together causing to form a ring.
Prevalence
Ring Chromosome 22 is extremely rare. There are only 100 known cases that were reported in journals. It is also possible the number of cases is undiagnosed since some infants and children display mild signs and symptoms. It affects both males and females and all ethnicities and nationalities equally.
Signs and Symptoms
Signs and symptoms vary based on the amount of genetic material lost and the location of the break in the chromosome. Signs and symptoms typically include, developmental delays, intellectual disabilities in the severe to moderate range, speech delay, hypotonia, unsteady gait, seizures and hyperactivity. Physical characteristics in some cases include webbed toes and a bulbous nose.
What causes Ring Chromosome 22?
Ring Chromosome 22 occurs when a component of the short arm and a part of the long arm break and the ends fuse together creating a fuse at the breakage area. This causes fragments of lost material. The amount of lost material varies from person to person creating unique signs and symptoms for each person.
Ring Chromosome 22 and Autism
It is estimated that 30-79% of people diagnosed with Ring Chromosome 22 also displayed autistic features. In cases where Autism and Ring Chromosome 22 coexisted, it was found that autism symptoms such as mood disorders, hyperactivity, and aggression were evidenced.
Treatment
There is currently no cure for Ring Chromosome 22 however symptoms can be managed through a medical multidisciplinary team of physicians, ophthalmologists, neurologist, cardiologist and other healthcare professionals such as speech therapist, occupational and physical therapist.
