Ring Chromosome 22

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.

Prevalence

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.

Treatment

There is currently no cure for Ring Chromosome 22. The following are used as a way to manage the disorder.

  • special education
  • speech therapy
  • physical therapy
  • seizure medication.
Resources
  1. Genetics Home Reference
  2. Wikipedia

Emergency Room and Special Needs

 

Autism-friendly emergency department provides comfort and familiarity for individuals with autism

Children and youth with special healthcare needs in emergencies

Creating an autism-friendly emergency room department

Emergency department management of children with cerebral palsy

Improving emergency care for adults with developmental disabilities

Hospital initiative strives for an autism-friendly patient experience

Slowing down emergency rooms to improve autism care

The hospital emergency room and autism spectrum disorder

Things to consider when bringing your child with special needs to the emergency room

Treating children with special needs in the emergency room

Thanksgiving and Mealtime Precautions

mealtime_thanksgiving_logo

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
  • Picky eaters
  • Difficulty with various textures of food

To help you mange Thanksgiving with ease, click on the articles below:

5 simple steps to hosting an autism-friendly Thanksgiving

8 tips for managing Thanksgiving with children with autism

10 genius ways to help your autistic picky eater to eat this Thanksgiving

Autism and Picky Eating

Autism and Thanksgiving: How to cope with the feasting and hubbub

Feeding kids with sensory processing disorders

Preparing for Thanksgiving on the autism spectrum

Swallowing problems? What to do about Thanksgiving

Thanksgiving dinner ideas for speech therapy activities

Tips for Navigating Thanksgiving on the Spectrum

 

Updated 08/26/2020

Cystic Fibrosis Resources

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:

Medical Sites

American Lung Association
Genetics Home Reference
Kids Health
March of Dimes
Mayo Clinic
Medline Plus
WebMD
Wikipedia

Organizations

Boomer Esiason Foundation
Cystic Fibrosis Foundation

 

 

Warm Weather Precautions Resources

As the summer begins to heat up, now is the time to put warm weather and safety precautions into place. Children and adults with disabilities should:

  • Drink┬áplenty of fluids
  • Use an air conditioner when possible
  • Take a cool bath or shower
  • Wear loose fitting clothing

For additional information click on the link below:

Extreme Heat and Health Problems- Disabled World
Health and Safety Alert- Ohio Department of Developmental Disabilities
Health and Safety Alert for Caregivers of Individuals with Developmental Disabilities- New Jersey Department of Human Services
Hot Weather Tips- Family Caregiver Alliance
Summer Safety Precautions- New York Office of People with Developmental Disabilities (download PDF)
Three Ways Weather Affects People with Disabilities- Essential Accessibility