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.
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.
Ring Chromosome is extremely rare. There are approximately 100 known case.
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.
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.
There is currently no cure for Ring Chromosome 22. The following are used as a way to manage the disorder.
Thanksgiving is the day set aside in the United States and Canada as a day of pausing to reflect all that we are thankful for by connecting with friends and family over good food. It is also the day of taking special precautions when serving people with developmental disabilities.
Aspiration is a huge risk during the holiday season. Factors that place people at risk for aspiration includes the following:
Being fed by someone else
Poor chewing or swallowing skills
Weak or absent coughing/gagging reflexes which is common in people with cerebral palsy or muscular dystrophy
Eating to quickly
Inappropriate fluid consistency
Inappropriate food texture
For children and adults with autism, Thanksgiving may be a challenge for a variety of reasons:
Sensory and emotional overload with large groups
Difficulty with various textures of food
To help you mange Thanksgiving with ease, click on the articles below:
Cystic Fibrosis is a genetic disease that affects the lungs and digestive system. An estimated 30,000 children and adults are affected. This disease clogs the lungs and leads to life-threatening infections. For more information, click on the links below: