Rett's Syndrome Research Paper

A Rare Disorder called Angelman Syndrome This research paper will discuss a specific disability called Angelman Syndrome. (AS) This Syndrome is a disorder, and can be diagnosed at an early age. AS don’t have a cure, but there are ways to treat this disorder.

Muscular dystrophy is when your muscles wear away and don’t really ever come back. In the same article it says that “Muscular dystrophy occurs in both genders and can strike at any age. However, Duchenne muscular dystrophy in the most common form and is most likely to occur in young boys.”(Tim Newman) Many people who have this genetic disorder usually walk on their toes and have trouble walking in general.

02 Nov. 2014. "Triple X Syndrome." Wikipedia. Wikimedia Foundation, 30 Nov. 2014. Web.

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.

Infants can lose motor skills such as crawling, sitting, or turning over. There is a milder form of Tay-Sachs called late-onset Tay-Sachs which causes muscle weakness and

She overall has some slowness of movement, but no cogwheel rigidity or bradykinesia. Sensory Was decreased in the stocking distribution, right more than left, lower extremity. Cerebellar Revealed good finger-to-nose, heel-to-shin and rapid alternating motion.

It would be difficult for people with Kanner’s to raise a child with all of these physical and mental disabilities. Rett Syndrome is also one of the types of autism, this disability is only prone in females for a reason that is still unknown. Other disabilities are attributed to males 75% of the time. The disability makes it so these women are hardly able to move and speak; this autism type has been classified as a genetic defect. This would definitely make it difficult to raise a child considering the fact that people with Rett’s syndrome are unable to move or

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

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

The rest of the article focuses on this prenatal testing and the ways parents who have children with Down syndrome are trying to reach out to those who’s pregnancy have tested positive for Down syndrome. There were problems with the attribution. Throughout the article the author mentioned facts but gave no attribution. For example, “The 5,500 children born with Down syndrome each year in the United States suffer from mild to moderate mental retardation, are at high risk for congenital heart defects” (Harmon, 2007), no where does the author state where this information came from. It makes it hard for those reading the article to believe what is being said and also makes it less credible.

Prior to performing his physical assessment, I gathered information about Marfan syndrome and additional diagnoses such as scoliosis and heart murmur. First I introduced myself to B. and his parents ask them if he wanted his parents to stay in the room for the physical assessment. I explained the process of assessing him starting from his head to his feet and if he had any questions to feel free to ask. I was able to determine the main focus when assessing B. and the characteristics

Tongue and uvula were midline. Normal auditory acuity. Normal shoulder shrug. Motor Was 5/5 all four extremities with normal tone. Sensory Was intact to primary modalities all four extremities.

The cause of this condition is not known. RISK FACTORS This condition is more likely to develop in: • Children aged 3–15 years. • Boys.

The occupational therapy assessments tool used were the Peabody Developmental Motor Scale 2 (PMDS 2) and the Childhood Autism Rating Scale. The performance areas assessed within the PMDS 2 were the grasp, visual motor, object manipulation, standing activities and locomotion. The areas divided into 15 categories namely relating to people, imitation, emotional response, body use, object use, adaptation to change, visual response, listening response, taste smell and touch response and use, fear or nervousness, verbal communication, nonverbal communication, activity level, level and consistency of intellectual response, and general impressions. 2. Child’s History (child initials, general demographics, social history, growth and development, social /health habits, family history, and current condition to include chief complaint, functional status, and medication M was born on November 8th 2009 and weighed lbs.

The reviewer in this case has been asked to address the following concerns related to this member: 1. Is the genetic testing [CPT code 812929 – First Step Dx Plus Testing] that was performed on 02/29/2016 considered experimental and/or investigational? Please explain. 2. Was the genetic testing [CPT code 812929 – First Step Dx Plus Testing], which was performed on 02/29/2016 medically necessary for the treatment of this member’s condition?