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.
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:
Childhood Disintegrative Disorder
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.
The prevalence for PDD-NOS is 60-70 per 10,000 and it is considered one of the most frequent childhood neurodevelopmental disorders.
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
While there is no known “cure” to treat PDD-NOS, individuals can benefit from:
Medication to treat anxiety and depression
The following links describe in more detail specific characteristics of a person with PDD-NOS:
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:
Provides detailed diagnosis information including clinical features, characteristics, and frequently asked questions.
Facebook groups are available where you can join a group to ask questions and share stories.
Printed material included factsheets, booklets, newsletters and ebooks.
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.
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.
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.
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