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

Pervasive Developmental Disorder- Not Otherwise Specified

According to the 5th edition of the Diagnostic and Statistical manual of Mental Disorders (DSM-5), Autism Spectrum Disorders is based on social communication impairments and restricted, repetitive patterns of behavior with varying levels of severity based on levels of support.

There are four sub types of Autism Spectrum Disorder including:

  1. Asperger’s Syndrome
  2. Autistic Disorder
  3. Childhood Disintegrative Disorder
  4. Pervasive Developmental Disorder, Not Otherwise Specified (PDD-NOS)

What is Pervasive Developmental Disorder- NOS?

PPD-NOS historically was a term used as a catch- all under the diagnosis of the autism spectrum disorder. It was used as a diagnosis for children who displayed some symptoms of autism, but did not meet the full criteria for the disorder. In order to meet the criteria, a child must have persistent deficits in the areas of social communication and interaction and at least 2 of the 4 types of restricted behavior.

People diagnosed with PDD-NOS tend to display a milder form of the autism disorder while this is not always the case. In some instances, some characteristics may be mild, but severe in other areas.

Prevalence 

The prevalence for PDD-NOS is 60-70 per 10,000 and it is considered one of the most frequent childhood neurodevelopmental disorders.

Research Studies

Very little research has been done specifically on PDD-NOS over the years. Some studies discovered that children diagnosed with PPD-NOS were more likely than other ASD diagnosis to no longer show ASD symptoms as they grew older. In one study, it was found that 39% of the sample of children no longer met the criterial for ASD. In another study, it was found that of the 97 children with a PDD-NOS, 25.8% had some degree of an intellectual disability and 9.3% had an associated medical condition such as Fragile X Syndrome disorder or a hearing/visual impairment.

Signs and Symptoms

For individuals diagnosed with PDD-NOS, it is not uncommon to see a higher level of social skills. characteristics may include:

  • Challenges with social behavior
  • Uneven skills development such as high level social skills and delays in play.
  • repetitive body movement
  • Communication challenge such as recognizing facial expressions and emotions and lack of understanding figural of speech and idioms.
  • Maladaptive daydreaming and fantasies
Diagnosis

Assessments

Treatment

While there is no known “cure” to treat PDD-NOS, individuals can benefit from:

  • Social stories
  • Occupational therapy
  • Physical therapy
  • Speech therapy
  • Medication to treat anxiety and depression
The following links describe in more detail specific characteristics of a person with PDD-NOS:
My ASD Child
National Autism Resources
WebMD.Com
Wikipedia

Wheelchair Safety and Etiquette Resources

Manual Wheelchair Safety

A guide to using your manual wheelchair safely

A home safety checklist for wheelchair users

Manual wheelchair safety tips for caregivers

Safety first!: Tips for staying safe in your manual wheelchair

Safety/Handling of Wheelchairs

Wheelchair safety and maintenance guidelines and checklist

Wheelchair safety guidelines

Wheelchair safety tips

Wheelchair safety tips you should know

Motorized Wheelchair Safety

5 tips to staying safe while using a power wheelchair

How to operate a wheelchair safely outdoors

Power wheelchair safety tips

Wheelchair Etiquette

The articles below discuss wheelchair etiquette:

A crash course in wheelchair etiquette

Disability etiquette

Tips for wheelchair etiquette

Wheelchair etiquette and disability awareness

Wheelchair etiquette in 8 easy steps

4 Ways to Utilize Rare Disease Foundation Websites as Educators

According to the National Institutes of Health, in the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. Definition of rare disease vary from country to county. In Europe affect 1in 2,000 people and in Canada, more than 3.5 million or 10percent of the population are diagnosed with a rare disease.

Although rare, special education teachers and habilitation specialist are more than likely to have a student or an individual diagnosed with a rare disease disorder. In most cases the person is also likely to have an intellectual developmental disorder, which qualified the student to have an iep or an adult attending a day program to qualify for a Medicaid Waiver.

The foundation website’s provide information that can help you understand the rare disease and the impact it has on the student. Further information provides current research on the disorder as well.

The websites can help you in the following ways:

  1. Provides detailed diagnosis information including clinical features, characteristics, and frequently asked questions.
  2. Facebook groups are available where you can join a group to ask questions and share stories.
  3. Printed material included factsheets, booklets, newsletters and ebooks.
  4. Educational information includes webinars, video’s conferences and seminars.

 

The following are links to rare disease website:

Aicardi Syndrome Foundation– Incorporated in 1991, the foundation is dedicated to provided assistance to those affected and their families.

Angleman Syndrome Foundation- Commitment to research to discover Angelman Syndrome treatment and a cure and supporting families.

CDKL5 Deficiency Disorder(International Foundation for CDKL5 Research)- Committed to funding research, both scientific and clinical, raising awareness. Also provides support to newly diagnosed through adulthood..

Cerebral Palsy Foundation– Collaborates with researchers to better understand the disorder. The website offers information through factsheets and a video library.

Chromosome 22 Ring- (Chromosome 22 Central)- Includes information and support for all Chromosome 22 disorders including research, support and events.

Chromosome 22q11.2 Deletion- (The International 22q11.2 Foundation) Provides resources and connections to experts regarding medical, psychosocial and educational needs. The foundation also organizes awareness events, educational conferences and supports legislative advocacy.

Cornelia de Lange Syndrome Foundation– Provides a host of services including information to families, professionals, and researchers.

Dravet Syndrome– A non-profit organization dedicated to raising funds for Dravet Syndrome. Also provides educational videos and webinars on website.

Duchenne Muscular Dystrophy-(Cure Duchenne)– The mission is to improve the lives of everyone affected by Duchenne through accelerating researchers to find the cure, improve care and empowering the Duchenne community.

Fragile X Syndrome Foundation- Serves all those living with Fragile X syndrome with a focus on community, awareness, and research in the pursuit of treatment and a cure. The website includes information on Fragile X and the relationship with Autism. The website also provides a free e-book on adults with Fragile X Syndrome.

Hydrocephalus Association- Provides resources to families, communities, professionals and researchers. Sponsors a yearly educational days and advocacy.

Kabuki Syndrome- The mission is to drive research efforts that show promise to treat, prevent or cure Kabuki syndrome through fundraising, knowledge-sharing and collaboration with researchers

Lowe Syndrome Association– The mission is to improve the lives of persons with Lowe syndrome and their families through fostering communication, providing education and supporting research.

Prader Willi Syndrome Association– The mission is to enhance the quality of life and empower of those affected by Prader-Willi Syndrome. The website includes educational resources such as webinars and a resource library.

Rett Syndrome Organization– The mission is to empower families with information, knowledge and advocacy and to raise awareness.

Sickle Cell Disease Association of America– The mission is to advocate for people affected by sickle cell conditions and empower community-based organization to maximize quality of life and raise public consciousness while searching for a cure.

Trisomy 18 Foundation- Provides information and educational resources to families, medical professionals and the general public.

Turner Syndrome Foundation- Supports research initiatives and facilitates education programs that increase professional awareness and enhance medical care.

Williams Syndrome Association– Founded by families of individuals with Williams syndrome to provide resources to doctors, researchers, and educators

Person First Language For Special Needs Professionals

Here are some resources on people first language

Disability etiquette and person first language- Niagara University First Responders

Examples of People First Language- by Kathie Snow

Getting started with person-first language-Edutopia

People first language- District of Columbia Office of Disability Rights

People first language- Texas Council of Developmental Disabilities

Person First Language 101- JJslist

Using people-first language when describing people with disabilities– Very Well Family

What is person-first language and why is it important? – Laguna Shores

Identify First Language

Autistic person or person with autism: Is there a right way to identify people?– Molly Calahan

Identity- first language– Autistic Self-Advocacy Network

Identity first vs. person first: An important distinction– Association of Healthcare Journalist

This is how to talk about disability according to disabled people- Bustle

Updated 2/17/21