Rett Syndrome Analysis

Babies with dup15q syndrome often have poor muscle tone, known as hypotonia. They may appear "floppy" and have difficulty sucking and feeding. Some parents report that their baby with dup15q syndrome has an unusual, weak cry. Motor milestones such as rolling over, sitting up, and walking are significantly delayed, although most children achieve independent walking after two to three years (younger in children with an interstitial duplication).

When it comes to neurocognitive disorders and neurodevelopmental disorders, reaserchers have been able to diagnose symptoms of a variety of disorders pertaining to the brain and growth development. Once knowing what the symptoms are behaviors become noticed and there becomes a reason for certain behaviors in individuals allowing different treatments for these disorders..

Children affected by Tay Sachs disease are born seemingly normal and develop like any other child in the first three to six months of life. Throughout the next month, and sometimes even years, the baby will progressively lose the ability to see, hear, and move. The child will develop a cherry-colored red spot in the back of the eye and they lose or never even gain important motor and mental skills. The child will stop smiling, crawling, sitting, turning over, and reaching for things. By

Within a year of the examination, two of the three children died. A few years later, one of the children’s parents brought a newly born sibling with the same symptoms to Tay’s clinic; leading Tay to believe whatever the disorder was, quite possibly was hereditary (Cowan 133).

If the parents know they are carriers of Tay-Sachs, blood tests and prenatal tests can be done to check for the gene mutation right away. The blood tests will check for the levels of hexosaminidase, cases with Tay-Sachs will have suppressed or have no hexosaminidase (Mayo Clinic Foundation). Between the 10th and 12th weeks of pregnancy, an expectant mother can get a chorionic villus sampling (CVS), in which a small sample of the placenta is drawn into a needle or a small tube for analysis. Between the 15th and 18th weeks of pregnancy, a woman can have an amniocentesis to test for the Tay-Sachs gene. In this test, a needle is inserted into the mother's belly to draw a sample of the amniotic fluid that surrounds the fetus (Nemours Kids Health). Symptoms start to show in early childhood, typically in the first 6-12 months of life, however, in some cases it could be 2-3 years before symptoms appear. There is a mutated version of Tay-Sachs that can affect adults later in life. “People in their 20’s and 30’s can actually develop a variant of this disease that causes them to have difficulty balancing and results in a progressive deterioration that is similar to what is seen in children with the classic form of the disease. Kids and adults both have one thing in common: there are some red spots that can be seen in their eyes, often described as looking like

Usually the girls with TS are diagnosed around the time they are born. Or at the time they are expected to go through their period. Usually if a baby girl has the signs of Turner Syndrome,

Tay Sachs is a disease in the nervous system. It mainly occurs in infancy, and the infant can appear normal until ages 3-6 months when their muscles for movement weaken and development slows down. Affected infants with Tay Sachs disease loose motor skills such as sitting, crawling, and turning over, and in some cases develop an extreme startle reaction to loud noises. As this vigorous disease advances, children distressed can experience paralysis, intellectual disability, seizures, hearing and vision loss, and an eye abnormality called a "cherry-red spot." Most children afflicted usually only live into early stages of childhood.

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

Tay Sachs Disease is an inherited disorder that kills nerve cells in the brain, and also in the spinal cord. A couple of things that could cause this mutation is a missing enzyme. This is an enzyme called ganglioside, that is a fatty substance. Another reason why tay sachs could appear is a change in chromosomes. This is chromosome number 15. The gene is the HEXA gene, or hexosaminidase A. This is a recessive disorder that you can only inherit if both parents have tay sachs. Some symptoms to know if you have this disease is weakened muscles, startling of loud noises, seizures, hearing loss, blindness, and paralysis. If you’re an infant and you have tay sachs disease, you will start to gain abilities, like crawling, but then start to lose them.

Research is continually being conducted everyday with this common disorder. Many parents main concerns is the use of medication to treat their child. Many doctors nowadays show the parents the current research of studies being done and their effectiveness as well as providing papers for families for their willingness to participate in ongoing studies to better help understand their childs disorder and the best way to treat it ( Görtz-dorten, Breuer, Hautmann, Rothenberger, Döpfner, 2011).

Fieldwork- Day 4 1. Child's name (pseudonym is fine) age and diagnosis? The child I observed was Britney, age 7, with Rett’s disease. 2.

The disorder was identified by Dr. Andreas Rett, an Austrian physician who first described it in a journal article in 1966 after he noticed two girls in his waiting room exhibiting identical hand mannerisms (Perry, 1991). He subsequently identified 20 other girls with mental retardation who exhibited similar hand movements and shared a number of other features (Kerr & Stephenson, 1985).  It was not until after a second article about the disorder, published in 1983 by Swedish researcher Dr. Bengt Hagberg, that the disorder was generally recognized (Hagberg, 1983).

Cornelia de Lange is a syndrome defined as a genetic birth defect and effects 1 in every 10,000 births. A genetic mutation of gene has been identified as the cause although research and testing continue. There is no cure and treatment is based on each individual’s severity of the syndrome. The classic signs are long eyelashes, eyebrows that meet in the middle, low ear placement, and missing fingers or arms. A large amount of those diagnosed with Cornelia de Lange Syndrome also have slowed physical and cognitive development, with approximately 60% exhibiting self-injurious behavior.

Children with this type can sit up on their own, but will need assistance getting there. They will never be able to walk or stand on their own. The progression of symptoms can vary greatly with Type II. and because of this, many patients can either live into adulthood and live a normal life or die in an early childhood due to respiratory failure. About seventy percent of patients with Type II are alive at age twenty-five ( The muscles will gradually weaken over time, the thighs before the feet and the legs before the arms. Their hands may weaken but patients will still be able to type and do other basic functions (Ferro 4). The biggest threat with Type II is scoliosis which is a curvature of the spine. Scoliosis can cause an interference in mobility and can cause a change in shape to the chest cavity (Spiegel). “Many physicians believe that severe spinal curvatures also compromise respiratory function, since the curved spine often compresses a lung. In severe SMA, it’s hard to say how much respiratory decline would have occurred even without the curvature, so its contribution is uncertain. (Ferro).” Spine straightening surgery is usually recommended but is risky due to the use of anesthesia and the possible dangerous outcomes such as, postanesthetic respiratory

It is difficult to diagnose CP before 6 months except in the complicated cases; it can be detected before the 6 months. (Sankar & Mundkur, 2005). Earlier symptoms that appear in CP are delay in motor progress, abnormal muscle tone and body positions. (Krigger, 2006). CP child shows inability of head control after the first 3 months, disinclination to sit or roll after 6 months, difficulty to walk after 18 months, and presentation of some of primitive reflexes that normally disappear at certain age. Berker & Yalcin (2010). Muscle tone in the initial period of a CP child displays hypertonicity, then around the 6 to 18 months hypertonicity is increased to be spasticity, or fluctuated between hyper or hypo tonicity. Berker & Yalcin (2010).