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.
French physician, Antonie Marfan, discovered this disease in a 5 year old girl. The child had extremely long/thin fingers and arms that resembled a spider. Marfan’s patients shared some things in common. They all had long/thin arms and fingers, they were all thin, and they all had a tall height.
ACL tears, hip, and elbow dysplasia, those are some other genetic issues. They can also have and issue called Cherry eye. Cherry eye is a mass that goes above the surface of their eyeylid. Plus they have a condition were their eyelid flip inward. Last but not least they can have bone cancer.
The genetic disorder Prader Willi Syndrome causes difference in appearance and bodily function. For example, when children are born there are certain character traits that make them look different from other children. There are distinctive features that are prevalent among people that are affected by Prader Willi Syndrome. “Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet” (Bittel Butler n.p.). The bodily function of people with this disorder are also affected by things such as their low and diminished muscle tone.
Treacher Collins is considered a disease or a syndrome that effects the growth development of your facial muscles and tissue structure. The disease does not affect your mental health or growth, but will allow humans to look different than others. Sometimes they are severely affected and sometimes it is hardly noticeable. The syndrome is something that is not passed down through sexual reproduction or asexual. Treacher Collins is a disease that is caused from a genetic mutation in the TCOFI, POLRIC, and POLRID gene.
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
In 1866, John Langdon Down, a British physician, identified a group of people whose symptoms were very similar. These were: eyes that were upwardly slanting, a flattened back of the head, and fissured and poorly controlled tongues. The term “mongolism” was coined to describe these people with Down’s Syndrome. In 1959, Jerome Lejeune identified the disorder as a chromosomal condition. He saw that those with the condition had 47 chromosomes in their cells instead of the normal 46.
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.
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 film briefly examines different services that are available for the families. However, the film demonstrated that the most precious resource is the role of parents and caregivers to believe in their child and never limit their abilities. Down syndrome has specific characteristics that are unique to this exceptionality. The most shared features associated with Down syndrome that were evident in the children in this film include; Flat facial features, with a small nose, Upward slant to the eyes, Small skin folds on the inner corner of the eyes and an Enlarged tongue. My major is Communication Disorders
Down syndrome is a condition which extra genetic material slows down the way in which an individual develops, both physically and mentally. As stated by the NHS; each individual with down syndrome is affected differently and can vary, some may need a lot of medical assistance whereas others may lead a normal healthy lifestyle but share similar characteristics. Delayed development: All service users with down syndrome has some degree of learning difficulty and delayed development, however, this varies between each individual. Having down syndrome they may experience some health problems which may effect them in every day life. However yet again each individual is different some may have more health problems than others.
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
Another long term disability is Autism. Autism can affect a child 's speech, behavior and social skills. Premature birth can also lead to other problems such as Dental problems, hearing loss, and infections. Being born early, means that your brain and other bones are not fully formed and ready to work properly.
For the purpose of this paper, the child observed will be called “Red”. Red is a three-year-old male toddler with no reported history of serious illness. At his last exam, Red was found to be in the 95 percentile in weight and height amongst his peers. His mother reported that Red developed normally throughout infancy, although he struggled to eat solid foods. The mother also stated that Red had recently been admitted to a developmental school as the Arizona Behavioral Center had diagnosed him as a high functioning autistic child.
(Brenda Finucane, Knowledge and Perceptions About Fragile X Syndrome:, 2013) Children with Fragile X also suffer from frequent ear infections and sinusitis, low muscle tone, gastro-esophageal reflux connective tissue issues such as scoliosis, flat feet, high arched palate, double-jointed fingers and hyper-flexible joints. Children with Fragile X also display specific behavioral characteristics. Behavioral disorders such as ADD, ADHD, autism and autistic behaviors are common in these children. (Brenda Finucane, Knowledge and Perceptions About Fragile X Syndrome:, 2013) Children with fragile X often exhibit social anxiety and other autistic behaviors such as hand-biting and/or flapping, poor eye contact, sensory processing disorders and social aggression.