Syndromes

people may face everyday obstacles and struggle when someone they know has a disability. Down syndrome and autism are two types of disabilities that are becoming more and more common in today’s society. There have been test done that says, “… children with Down syndrome may be at increased risk of having an autism spectrum disorder” (Hepburn). My brother, Frankie is sixteen years old and he has Down syndrome and was diagnosed later with autism. He cannot walk or talk. He is in a wheelchair and…

Muckle-Wells syndrome (MWS) is a rare genetic disorder that causes hive-like skin rashes, chills, fever, partial or total hearing loss, swollen joints, loss of kidney function, and can eventually lead to amyloidosis in some patients. Muckle-Wells syndrome is named after Thomas J. Muckle and Michael V. Wells who first described the disease in April of 1962 [1]. Muckle-Wells is in a family of diseases called Cryopyrin-Associated Autoinflammatory Syndromes (CAPS) which all are related because they…

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome, also known as drug-induced hypersensitivity Syndrome (DIHS) presents clinically as an extensive mucocutaneous rash, accompanied by fever, lymphadenopathy, hepatitis, hematologic abnormalities with eosinophilia and atypical lymphocytes, and may involve other organs with resultant damage in several systems. The pathogenesis is related to specific drugs (especially the aromatic anticonvulsants), altered immune response,…

Trisomy 21? For starters, Trisomy 21 is another for a genetic disease called Down Syndrome. Genetic Home Reference says “Trisomy 21 is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All individuals affected experience cognitive delays, but the intellectual disability is usually mild to moderate. You get Down Syndrome by having a extra set of chromosomes. The female has 2 sets of chromosomes…

criteria suggested that individuals with Asperger syndrome would have good memories, although this may be limited to particular interests. This criteria, refined through the 1980s enabled clinicians to diagnose more subtle cases of autism, criticism of the Asperger syndrome diagnosis has focused upon its use as a tool for diagnosis, having become separated from the theoretical components that constitute autism. As suggested by Happé (1994), Asperger syndrome separates the language and cognitive…

Analysis of Hines et al 2003 Study on CAIS Complete Androgen Insensitivity Syndrome is a disorder that comes from defects in the androgen receptor gene (Hines, et al 2003). This causes the external genitalia to be female at birth with underdeveloped internal genitalia (Hines, Ahmed, Hughes 93). Since the genitalia are female appear female, most people with this disorder are pronounce female at birth and are thus raised as females. In fact, people with this disorder are more feminine at puberty…

Myelodysplastic Syndrome Myelodysplastic syndrome (MDS) is a group of blood diseases that affects new blood cells. This syndrome starts in the bone marrow where new blood cells are made. New blood cells are called immature cells or stem cells. With MDS, some immature cells do not grow into adult blood cells. Immature blood cells cannot live for very long in the body and they die. Over time, immature blood cells crowd out normal adult blood cells. This causes a low blood count. The bone marrow…

Guillain-Barré Syndrome Guillain-Barré syndrome (GBS) is not something that many people have dealt with or even heard of for that matter. According to the CDC, there is somewhere between 3,000-6,000 cases of GBS per year in the United States. That amounts to 1-2 people out of 100,000 per year (CDC, 2009). For me, Guillain-Barré syndrome is something that I have known about since I was eight years old. Not only was I aware that it existed, I thought it was going to take my dad away from me.…

It is typically diagnosed after birth or even before the child is born. The reason it is so easy to tell if a child has Down syndrome is based off of the unassuming characteristics that are associated with the disorder. Physical features are altered and are easily noticed, for example, eyes are more upwardly slanted, a lack of muscle tone is evident, and a single deep crease curves…

What activities took place during this session? The first session was with one student, I will refer to her as Janet. Janet is an eighth grade female that has Rett Syndrome. Janet has many symptoms that are typical of a child with Rett syndrome. She has severe cognitive disabilities, she is nonverbal, has severe scoliosis, which is a curvature in her spine. Janet’s spine is “S” shaped. Because of her spine and her cognitive disabilities Janet is in a wheel chair. She also has no ability to chew…