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 …show more content…
Amir, Sutton and Veyver (2005) explore why Rett’s syndrome is not universally screened for, and if it would be reasonable to screen for it in an article called Newborn Screening and Prenatal diagnosis for Rett’s syndrome. They came to the conclusion that it would not be reasonable to screen for Rett’s Syndrome as 1. There is no current treatment that can halt, or reverse the effects of Rett’s syndrome. 2. The process to screen for the MECP2 mutation is very selective and is not always accurate. And finally 3. It is an expensive process because of the how selective it is, therefore would not be economically reasonable. Prenatal screening is recommended to women who have a family history of Rett’s Syndrome, but it is rare for the disorder to occur more than once in a …show more content…
Many girls also develop more of an interest in their surroundings. Their awareness, attention span and communication skills improve in this stage. Most girls stay in this stage for most of their lives. o 4) Late motor deterioration stage The prominent features of this stage is reduced mobility, a curvature of the spine (scoliosis), muscle weakness, rigidity spasticity and an increase in muscle tone. Girls previously able to walk may not be able to walk anymore. This stage may last several years, decades even. • There are two types of diagnosis’ that can be determined through a clinical exam. o A) Typical/classic RTT which according to the Ontario Rett’s Syndrome Association (ORSA) is “characterized by a period of regression followed by recovery or stabilization” (2016). In order to be diagnosed with classic RTT, one must meet four required criteria, followed by genetic testing: Partial/complete loss of hand kills Partial or complete loss of verbal skills Motor abnormalities Stereotypical hand gestures (repetitive hand
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?
Cri-Du-Chat implies "Cry of the cat" in French. It gets its name from its most trademark highlight in infants were they contain a to a great degree specific deafening, weak, mewing cat like cry in the midst of right on time stages brought on by a sporadic change of the larynx that is regularly characteristic for the issue. This issue has various names to it as the Chromosome 5p-issue, Deletion 5p-issue, 5p short issue, Cat cry issue, and Monosomy 5p however most usually known as the Cri-Du-Chat Syndrome. Frequencies of this issue vary between 1 in each 20,000 - 50,000 live births general and as showed by the 5p less Society, around 50 to 60 adolescents are considered with cri du talk in the United States each year. Dr. Jerome Lejeune in 1963 depicted the issue as a hereditary inalienable issue associated with a midway cancelation of the short arm, or p area in chromosome 5 yet in %90 of patients the deletion is sporadic which infers it could happen subjectively and for it being basically natural is just not the circumstance.
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.
Both are caused by various genetic mutations with the most prevalent one being a mutation on the MECP2 gene. Signs and symptoms of the disease can vary among those affected. In classic Rett Syndrome, typically babies will develop normally until about 6 to 18 months. It is at this point that parents and caregivers may notice changes in the how the baby is interacting in his/her environment. They appear to lose interest in play or in interactions with people and may not make eye contact.
This condition worsens with age. Marfan syndrome becomes more obvious as changes occur in connective tissue. The major systems affected are • Skeletal system-The facial appearance of affected patients may be distinctive, with elongation and asymmetry. Sometimes there may be a high arched palate resulting in speech disorders. Tall stature along with long thin digits and alteration in body proportions are seen.
In the males, muscle mass increases, they are prone to ligament tears, uncalcified bones until after puberty and the cardiovascular pump is not efficient as in adults. I think that B is not meeting the developmental norms because of his delayed motor skills from Marfan syndrome. Additional diagnosis of Marfan syndrome is scoliosis, making him unable to participate in sports due to the sideways curvature that affects his balance and coordination. B. was also diagnosed with a heart murmur that limited his ability to participate in sport activities when compared to other children his age. 5.
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
Don 't feel bad, we can 't see what others post until we post our own so there was really no way of knowing. As well as there are a million different angles that can be taken on this disorder. Mine was diagnosed way into adulthood and both of my children have it. Because my daughter was diagnosed so late, I try to use the knowledge and experiences we gained from her mis-fortune to educate
ROLE/PHASE OF PUBERTY ON ADOLESCENT BEHAVIOR AND DEVELOPMENT Image PUBERTY: Puberty is the period of time when children began to grow biologically, psychologically, emotionally, cognitively and socially. Girl start to grow in to women and boys start to grow in men. These changes occur due to the hormones.
In the book Real Boys” there is a boy named Adam. He goes to a school where he gets bullied and no one likes him. He has never told his mom that he is getting bullied at school until he comes home with a black eye. He keeps everything to himself, doesn’t even tell his mom. He once had a good grade before he started to get bullied his mom was so worried about him and his grade.
Physical Impairment according to Somantri (2012: p. 121) is a damaged or hampered condition which is caused by the effect of bone and muscle breakdown, so that it reduces the normal capacity of individuals to follow the education or to be stand-alone. Based on Koening (cited in Somantri 2012: p. 123) the classification of physical impairment namely: (1) the damage which it has already carried since they was born such as, clubfoot, club hand, polydactylism, syndactylism, torticolis, spina-bifida, cretinism, myscrocphalus, hydrochepalus, clefpalats, hare-lip, congenital hip dislocation, and etc, (2) the damage since birth.
Signs and symptoms of scoliosis include uneven shoulders, a prominence of the shoulder blade and waistline discrepancies. Scoliosis is reported to affect two to three percent of school-age children. It appears most often in adolescent girls and has shown a tendency to run in families.” I believe I was diagnosed at the age of 13 my seventh grade year in junior high. It is stated that it was hereditary because my Aunt has it, but hers was nowhere near as bad as mine.
Her communication skills are very poor and her speech is like a three year old. For example when she wants to go to the bathroom she would just say, “Toilet” or “pee.” Her movement is very slow which is common for a person that finds it difficult to balance properly. The Occupational therapist told me that Jamie struggles to stand/balance on one leg or even do a normal squat during their sessions. She also told me that Jamie loves her sessions but cannot remember people’s names.