This year’s theme is “Because We are EQUAL to the Task.” This theme mirrors the reality that people with disabilities have the talent, education, desire, training, and experience to be successful in the workplace.
What is Rett Syndrome?
Rett syndrome is a postnatal neurological disorder seen almost always in girls, but can be rarely seen in boys. It is not a degenerative disorder.
Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”
Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.
Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.
Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.
Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.
Testing and Diagnosis
Rett syndrome is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. In the past, making the correct diagnosis called not only for a long list of diagnostic tests and procedures to rule out other disorders, but it also took from months to years waiting to confirm the diagnosis as new symptoms appeared over time. Today, we have a simple blood test to confirm the diagnosis. However, since we know that the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both. Below is a list of labs to share with your ordering physician that can do the MECP2 sequencing + deletion analysis, and the list of diagnostic criteria.
Down Syndrome Awareness Month is chance to spread awareness, advocacy and inclusion throughout the community. During the month of October, we celebrate individuals with Down syndrome and make people aware of their abilities and accomplishments.
It’s not about celebrating disabilities; it’s about celebrating abilities.
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What Is Down Syndrome?
Down syndrome (or Down’s syndrome) is a chromosomal disorder caused by an error in cell division that results in an extra 21st chromosome. The condition leads to impairments in both cognitive ability and physical growth that range from mild to moderate developmental disabilities. Through a series of screenings and tests, Down syndrome can be detected before and after a baby is born.
The only factor known to affect the probability of having a baby with Down syndrome is maternal age. That is, less than one in 1,000 pregnancies for mothers less than 30 years of age results in a baby with Down syndrome. For mothers who are 44 years of age, about 1 in 35 pregnancies results in a baby with Down syndrome. Because younger women generally have more children, about 75 – 80% of children with Down syndrome are born to younger women.
What causes Down syndrome?
Down syndrome occurs because of an abnormality characterized by an extra copy of genetic material on all or part of the 21st chromosome. Every cell in the body contains genes that are grouped along chromosomes in the cell’s nucleus or center. There are normally 46 chromosomes in each cell, 23 inherited from your mother and 23 from your father. When some or all of a person’s cells have an extra full or partial copy of chromosome 21, the result is Down syndrome.
The most common form of Down syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46. This is caused by an error in cell division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. Trisomy 21 accounts for 95% of Down syndrome cases, with 88% originating from nondisjunction of the mother’s egg cell.
The remaining 5% of Down syndrome cases are due to conditions called mosaicism and translocation. Mosaic Down syndrome results when some cells in the body are normal while others have Trisomy 21. Robertsonian translocation occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome (usually chromosome 14). The presence of this extra part of chromosome 21 causes Down some syndrome characteristics. Although a person with a translocation may appear physically normal, he or she has a greater risk of producing a child with an extra 21st chromosome.
September has been designated by Congress as National Spinal Cord Injury Awareness Month. Sponsored by Sen. Mark Rubio of Florida, the resolution notes:
“Paralyzed Veterans of America is passionate about its commitment to increasing awareness, supporting research to find a cure and advocating for exceptional quality of care for patients with spinal cord injury/disorders
Research into treating or finding a way to reverse paralysis from spinal cord injury is often expensive and hard to come by, involving specialized equipment and staff that many hospitals and research centers cannot afford. Government funding and support, as well as that of the private sector, will be crucial in the search for a treatment for paralysis.
Paralyzed Veterans of America has since its inception supported research in spinal cord science as well as educational initiatives to improve the lives of individuals with spinal cord injury—more than $100 million into research that promises new therapies, treatments and potential cures for paralysis. Top researchers supported by Paralyzed Veterans now confidently speak of a cure.
BOSTON, August 24, 2013 /VMiNewswire/ — VMi New England’s community of people with disabilities—which also includes families, caregivers, seniors, wounded veterans and healthcare professionals—welcomes the much-anticipated return of the Abilities Expo Boston on September 20-22, 2013 at The Boston Convention & Exhibition Center. Admission is free.
Abilities Expo Boston will take place in Boston, United States Of America for three consecutive days. In this international trade show latest and advanced disAbility products and services will be given supreme importance. The main purpose of this expo is to make the people aware of the developmental changes which are taking place in this sector. At the same time this event will provide relevant and useful information to the disabled and senior individuals.
Abilities Expo Boston is a must attend event for the caregivers, healthcare professionals and the eminent experts related to this field. In this event they will get a chance to share their knowledge and experience with each other in this trade show.