Analysis of the fragile x syndrome

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Analysis of the fragile x syndrome

The extra chromosome is lethal for most babies born with this condition. It causes major physical abnormalities and severe mental retardation. Very few children afflicted with this syndrome survive beyond the first year.

Humans normally have 23 pairs of chromosomes. Chromosomes are numbered 1—22, and the 23rd pair is composed of the sex chromosomes, X and Y. A person inherits one set of 23 chromosomes from each parent. Occasionally, a genetic error occurs during egg or sperm cell formation.

A child conceived with such an egg or sperm cell may inherit an incorrect number of chromosomes. Ninety-five percent of the children are full trisomies, 2 percent are due to translocations, where only part of an extra chromosome is present this may be hereditarywhile 3 percent are mosaic trisomies, where the extra chromosome is present in some but not all of the cells.

Pentasomy X - Wikipedia

Of those who do make it to birth, 20—30 percent die within one month. However, a small number of babies less than 10 percent live at least one year. It is the second most common trisomy, after trisomy 21 Down syndrome. The head is unusually small and the back of the head is prominent.

The ears are malformed and low-set, and the mouth and jaw are small micrognathia.

Analysis of the fragile x syndrome

The baby may also have a cleft lip or cleft palate. Frequently, the hands are clenched into fists, and the index finger overlaps the other fingers. The child may have clubfeet, and toes may be webbed or fused. Numerous problems involving the internal organs may be present.

Abnormalities often occur in the lungs and diaphragm the muscle that controls breathingand blood vessel malformations are common. The child may have an umbilical or inguinal herniamalformed kidneys, and abnormalities of the urogenital system, including undescended testicles in a male child cryptochordism.

Parents should develop good working relationships with their doctor, other specialists, and therapists, and should consult them as needed. Physical examination of the infant may show arched type finger print patterns, while x rays may reveal a short breast bone sternum.

Using special stains and microscopy, individual chromosomes are identified, and the presence of an extra chromosome 18 is revealed.

Analysis of the fragile x syndrome

If a pregnant woman is older than 35, has a family history of genetic abnormalities, has previously conceived a child with a genetic abnormality, or has suffered earlier miscarriages, she may undergo tests to determine whether her child carries genetic abnormalities.

Potential tests include maternal serum alpha-fetal protein analysis or screening, ultrasonography, amniocentesisand chorionic villus sampling. An unusually small placenta may be noted during the birth of the child. Abnormalities can be treated to a certain degree with surgery, but extreme invasive procedures may not be in the best interests of an infant whose lifespan is measured in days or weeks.

Medical therapy often consists of supportive care with the goal of making the infant comfortable, rather than prolonging life. Problems with muscle tone and nervous system abnormalities will affect the development of motor skills, possibly resulting in scoliosis curvature of the spine and esotropia crossed eyes.

Anti-gas medication, special milk formulas, stool softener medicines, laxativesand suppositories are all possible treatments that the doctor may recommend to ease the discomfort of gas in the bowels or constipation. An enema should not given to the baby or child because it can deplete electrolytes and alter body fluid composition.

Other abnormalities that may require consideration of medical or surgical intervention include club foot, facial clefts, spina bifidaand hydrocephalus. Many have a weak suck and uncoordinated swallow resulting in choking and sometimes vomiting. Gastroesophageal reflux diseaseor GERD the upward movement of small amounts of stomach contents to the esophagus or throataspiration inhalation or trickle of fluids into the lungsand oral facial clefts may also contribute to feeding difficulties.

The baby should be referred to a feeding specialist to help with feeding problems. This is a common condition that occurs before the baby has developed head control. It results in the elongation of throat muscles, making swallowing more difficult.

Some babies eventually progress to bottle or breastfeeding, while others have a gastrostomy G-tube placed abdominally to prevent the trauma of tube insertion.

Some children are fed both orally and through the tube. The baby should be fed with pre-softened preemie nipples and given small amounts frequently. If tolerated, high calories formulas or supplements may be fed to help the baby gain weight.

The average lifespan is less than two months for 50 percent of the children, and 90—95 percent die before their first birthday.- FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS Jacquemont et al. () provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder.

Amiri et al. () provided a review of FXTAS and noted that the pathogenesis of the disorder is distinct from that in fragile X syndrome. Read about Fragile X syndrome (FXS or Martin-Bell syndrome), an inherited condition with characteristics and symptoms such as anxiety, low IQ, stuttering, .

Triple X syndrome, also known as trisomy X and 47,XXX, is characterized by the presence of an extra X chromosome in each cell of a female. Those affected are often taller than average. Usually there are no other physical differences and normal fertility.

Occasionally there are learning difficulties, decreased muscle tone, seizures, or kidney problems. Fragile X syndrome (also called Fragile X) is the most common inherited form of mental retardation.* It results from a change, or mutation, in a single gene, which can .

Fragile X syndrome (FXS) is a genetic disorder. CDC and its partners are working to learn more about and improve the health and well-being of people who have FXS and fragile X-associated disorders.

Familial adenomatous polyposis a hereditary syndrome characterized by the formation of many polyps in the colon and rectum, some of which may develop into colorectal cancer.

Fatty acid an organic acid molecule consisting of a chain of carbon molecules and a carboxylic acid (-COOH) group.

Facts | Fragile X Syndrome (FXS) | NCBDDD | CDC