Tay Sachs Research Paper

Rett’s Syndrome Kelsey Leroux Child Development CYC 101 Lenore Simbulan October 14, 2016 Rett’s Syndrome Rett’s syndrome is defined by the Ontario Rett’s Syndrome Association (ORSA) as “a neurodevelopmental condition characterized by the loss of the spoken language and hand use, coupled with the development of distinctive hand stereotypies… It is usually caused by a mutation of the MECP2 gene on the x chromosome” (2016). Rett’s syndrome is considered by medical experts as a rare genetic neurological and developmental disorder that affects the way the brain develops causing a progressive inability to use muscles for speech, and eye and body movements. Most babies seem to develop normally until about six to eighteen months old. Rett’s

Children also will show signs of A child who suffers with this syndrome will suffer with many developmental

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. ALS is also named Lou Gehrig’s disease because he was the first person to bring ALS to a national attention in the 1930’s. Lou Gehrig’s amazing professional baseball career was ended short by this horrific disease. There are multiple treatments for ALS, but no cure for this fatal disease. In 2014, ALS was brought to major attention by the ALS Ice Bucket Challenge. Although Lou has the disease named after him, there are several other notable individuals who have been diagnosed with ALS. These individuals include Stephen Hawking, Jim Hunter, Steve Gleason, George Yardley

Amyotrophic lateral sclerosis is a degenerative neuromuscular disorder that affects the motor neurons of the spinal cord and brain. Due to degeneration or destruction of the motor neurons, muscles throughout the body begin to become weak and waste away to the point that an individual has no muscle movement. In most cases, due to having muscle strength, a patient with ALS will succumb to their disease because of respiratory failure or dehydration and malnutrition. It is a progressive disease with a prognosis of 3 to 5 years after initial diagnosis. There is no cure for the disease as of now. This paper will discuss a more in depth look into the symptoms, diagnosis process, treatment options, medications, prognosis, and ongoing research.

Another example would be spina bifida; where the child’s legs may be partially or fully paralysed and they may have problems controlling their bowel and bladder. Physical disabilities can prevent children taking part in some physical activities, thus impairing their physical development and ultimately their social interactions in the playground or during group work. This in turn can affect confidence and their ability to interact with their

One can only get spinal muscular atrophy only if both of their parents had copies of a defective gene. Furthermore, if the

This could affect the way they interact in the classroom and their ability to develop. An example of a physical disability that could affect the way children develop is Cerebal palsy, this is a condition that affects the movement, posture and co-ordination of a person. They could just be affected physically or they may have seizure, epilepsy or difficulties with speech and language as

In reference to the National Institute of Neurological Disorders and Stroke, “Krabbe Disease is a rare, inherited degenerative disease” (NINDS.nih.gov). It is diagnosed when a presence of globoid cells is found. Those are cells with more than one nucleus. A nucleus acts as the brain of the cell where all the action happens. This disease breaks down the coating of nerve fibers or axons, those are called Myelin Sheath.

I observed a four year old girl that was tiny for her age. She worked on proprioceptive and vestibular input like the other children. One major difference is that her condition has not been diagnosed. The doctor suspect a chromosome issue, but her family has not gone for additional testing. Although she can recognize shapes, colors, and letters, she is still delayed.

Trisomy 18, or Edwards Syndrome, was discovered by a man named John Hilton Edwards in 1960, and is a condition that causes severe developmental delays because of an extra chromosome 18. Edwards was a professor of genetics at Birmingham and Oxford, he first saw Trisomy 18 in stillborn and abnormal babies. Trisomy 18 is the second most common trisomy after Trisomy 21. Trisomy 18 is not inherited, but completely random, it is caused by an error in cell division known as meiotic disjunction. The following essay will go over the signs, symptoms, mutation, and how to make the child with Trisomy 18’s everyday life as normal as possible. (trisomy 18 - Genetics Home Reference)

Ataxia Telangiectasia Ataxia Telangiectasia (A-T) is an inherited disorder that affects the nervous system, immune system, and other systems of the body. The disorder usually progresses before the age of 5 and it makes it difficult for coordination and causes delayed development of motor skills like walking, problems with balancing, and using your hands to grab items etc. A person may even have slurred speech, sway when they walk and wobble. These problems can affect a person as they get older and the effects can become worse as the person ages.

Not only does it weaken your muscles, but it makes it very difficult to do day-to-day functions. I could not even begin to imagine what it would be like to have this disorder, or to have a child with this disorder. Also, being that it is the most severe form of muscular dystrophy, it would be extremely hard to live with, if not unbearable. To me being wheelchair bound by the early teens would be just horrible, because of all or the sports/activities that child will have to miss out on. The child also lives an extremely short life with cardiac/respiratory failure setting in around the mid to late

In a hand few of these children, physical challenges were noted. Physical challenges can be noted by lack of self-care (diaper changing),

Guillain-Barre Syndrome or known as GBS is a very rare disease. The general cause of acute paralysis in western countries due to virtual elimination of poliomyelitis or better known as polio. Unfortunately, even with the medical science today it is still one of many diseases that show signs of not being genetic or having a beginning stage. Symptoms in Guillain-Barre syndrome Guillain-Barre Syndrome can develop by a most common of symptoms most the time overlooked as something different.

has developed an investigational drug called drisapersen for the treatment of DMD. This drug aims to treat 13% of the patients who are responsive to exon 51 skipping treatment. This represents the largest subpopulation of DMD patients, including patients with deletions of exon 50, exon 52, exons 45-50, exons 48-50, and exons 49-50. DMD is caused by the mutations in the dystrophin protein gene. Mutations are, mostly, deletions of one or more exons that interrupt the open reading frame of the transcript and eventually stop the synthesis of the dystrophin protein.