Archives

QUOTE FOR MONDAY:

Jul6

“When the word sarcoma is part of the name of a disease, it means the tumor is malignant (cancer). A sarcoma is a type of cancer that starts in tissues like bone or muscle. Bone and soft tissue sarcomas are the main types of sarcoma. Soft tissue sarcomas can develop in soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues. They can be found in any part of the body. Most of them start in the arms or legs. They can also be found in the trunk, head and neck area, internal organs, and the area in back of the abdominal (belly) cavity (known as the retroperitoneum). Sarcomas are not common tumors.”.

American Cancer Society

QUOTE FOR FRIDAY:

Jul3

“July is Juvenile Arthritis Awareness Month, and believe it or not, nearly 300,000 children have been diagnosed with some form of arthritis. Arthritis doesn’t affect just older people, but also affects children as little as six months old! Juvenile arthritis comes in a variety of forms with varying life spans and symptoms.”

Bone and Joint Center

QUOTE FOR THURSDAY:

Jul2
“A cleft palate is an opening or split in the roof of the mouth that occurs when the tissue doesn’t fuse together during development in the womb. A cleft palate often includes a split (cleft) in the upper lip (cleft lip) but can occur without affecting the lip.”
 
MAYO CLINIC

QUOTE FOR WEDNESDAY:

Jul1
“Children with Rett syndrome often have normal development during the first 6 to 18 months of life. After this time, they have a period of regression (loss of skills) and they may lose speech and other developmental milestones. The symptoms can range from mild to severe. Almost all children with Rett syndrome are female.”
 
Boston Children’s Hospital

Part II Rett Syndrome Awareness Month

Jul1

The spectrum of phenotypes in MECP2-related disorders includes the following:

  • Classic Rett syndrome

  • Variant Rett syndrome

  • Mild learning disabilities (females) or neonatal encephalopathy and syndromic or nonsyndromic intellectual disability (males)

Classic Rett syndrome. In 1988, well before the discovery of the genetic basis of Rett syndrome, clinical diagnostic criteria were developed. The following are limitations to clinical diagnosis of Rett syndrome using these criteria:

  • Clinical diagnosis may be considered tentative until the affected individual reaches age two to five years, by which point she has likely gone through several stages of the disease.
  • Atypical forms may be either milder or more severe than classic Rett syndrome:
    • In the more severe variant, no period of grossly normal development occurs; and early manifestations include congenital hypotonia and infantile spasms.
    • In the milder variant, girls have less dramatic regression and milder intellectual disability.
    • Other children experience an even more gradual regression that begins after the third year, lose purposeful hand use, and develop seizures; however, they retain some speech and the ability to walk.

Revised Diagnostic Criteria for Rett Syndrome

The diagnosis should be considered when there is postnatal deceleration of head growth observed. However, this is not mandatory.

Required for typical or classic Rett syndrome

  • A period of regression followed by recovery or stabilization
  • All of the main criteria and all of the exclusion criteria

Supportive criteria are not required, although often present in typical Rett syndrome.

Required for atypical or variant Rett syndrome

  • A period of regression followed by recovery or stabilization
  • Two of the four main criteria
  • Five of the 11 supportive criteria

Main criteria

  • Partial or complete loss of acquired purposeful hand skills
  • Partial or complete loss of acquired spoken language or language skill (e.g. babble).
  • Gait abnormalities: impaired (dyspraxic) or absence of ability
  • Stereotypic hand movements including hand wringing/squeezing, clapping/tapping, mouthing, and washing/rubbing automatisms

Exclusion criteria for typical Rett syndrome

  • Brain injury secondary to peri- or postnatal trauma, neurometabolic disease, or severe infection that causes neurologic problems
  • Grossly abnormal psychomotor development in the first six months of life, with early milestones not being met

Supportive criteria for atypical Rett syndrome (currently or at any time)*

  • Breathing disturbances when awake
  • Bruxism when awake, is excessive teeth grinding or jaw clenching
  • Impaired sleep pattern
  • Abnormal muscle tone
  • Peripheral vasomotor disturbances
  • Scoliosis/kyphosis
  • Growth retardation
  • Small cold hands and feet
  • Inappropriate laughing/screaming spells
  • Diminished response to pain
  • Intense eye communication – “eye pointing”

*Younger individuals may need to be reevaluated, as the development of many of these features is age dependent.

Molecular Genetic Testing

Gene. MECP2 is the only gene in which mutation is known to cause MECP2-related disorders.

 

QUOTE FOR TUESDAY:

Jun30
“Rett syndrome is a genetic disorder that causes a loss of spoken language and motor skills, as well as behavioral and neurological problems. Children with Rett syndrome may also have a variety of other medical problems, including intestinal, breathing, orthopedic and heart complications.”
Boston Children’s Hospital.”

 

Part I Rett Syndrome Awareness Month

Jun30

Rett syndrome is a rare non-inherited genetic postnatal neurological disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements while awake. Cognitive assessment in children with Rett syndrome is complicated, but we know that they understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions.

In 1954, Dr. Andreas Rett, a pediatrician in Vienna, Austria, first noticed two girls as they sat in his waiting room making the same repetitive hand-washing motions.  Brett syndrome is a unique postnatal neurological disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.

This neurological disorder is where there is a mutation in a single gene, the MECP2 gene.

The MECP2 gene provides instructions for making a protein called MeCP2. This protein helps regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes. The function of DNA is the blueprint of biological guidelines that a living organism must follow to exist and remain functional. Medium of long-term, stable storage and transmission of genetic information.The MeCP2 protein is present in cells throughout the body, although it is particularly abundant in brain cells.

In the brain, the MeCP2 protein is important for the function of several types of cells, including nerve cells (neurons). The protein likely plays a role in maintaining connections (synapses) between neurons, where cell-to-cell communication occurs.

Many of the genes that are known to be regulated by the MeCP2 protein play a role in normal brain function, particularly the maintenance of synapses BUT the MeCP has a permanent alteration in it so if effects the DNA and there won’t be normal function.

 Affecting only children because this happens during fetal development when are DNA/RNA and genes are made up.  This won’t happen in adulthood, your RNA, DNA and genes won’t change at that age. 

It mostly affects girls rather than boys because the affected gene is located within the X chromosome. Chromosomes contain the set of instructions to create an organism. Men have one X chromosome and one Y chromosome, the latter being responsible for the characteristics that make men male, including the male sexual organs and the ability to produce sperm. In contrast, women have two copies of the X chromosome= XX. But, because the X chromosome carries a bigger instruction manual than the Y chromosome, biology’s solution is to largely inactivate one X chromosome in females, giving one functional copy of the X in both men and women.

Rett Syndrome is genetically based and is a very rare condition, but there is no known cure. This is a life-long condition. You can’t repair mutated genes or someone’s DNA/RNA.

Symptoms can be managed, and early detection is the key to making it easier on both the child affected and their families, but the patient will need constant care for the rest of their lives.

Often akin to the symptoms of severe autism, it is important to differentiate between the two diseases to get a correct diagnosis.

QUOTE FOR MONDAY:

Jun30

“Helen’s ability to empathize with the individual citizen in need as well as her ability to work with world leaders to shape global policy on vision loss made her a supremely effective ambassador for disabled persons worldwide. Her active participation in this area began as early as 1915, when the Permanent Blind War Relief Fund, later called the American Braille Press, was founded. She was a member of its first board of directors.”

American Foundation for the Blind – AFB