Culture-specific syndromes

Overview: What is Williams Syndrome? Definition: Williams Syndrome is a genetic disorder, resulting from the deletion of 26 or more genes one chromosome number 7 (Mervis et al., 2000). That seemingly small loss can affect numerous parts of a person’s physical and mental health, as well as social behavior and sensory perception (Genetics Home Reference, 2014). Diagnosis: Williams Syndrome is a genetic condition that a child is born with and it can impact a child’s prenatal development as well…

In 1965 Harry Angelman reported clinical findings in three children with similar, unusual, attributes. These children had what was known as “happy puppet” syndrome, but was later changed to Angelman syndrome, due to its pejorative name. Angelman syndrome is a neurodevelopmental disorder distinguished by: severe learning difficulties, ataxia, jerky movements, epilepsy, speech impairments, hypopigmentation in the hair and the skin with blue eyes, subtle dysmorphic facial features, and happy and…

Rett Syndrome Report Cathy Qian Clinical features Rett Syndrome (RTT) is a genetic disease which presents with a seemingly normal development up until 1-3 years of age. The disease is only present in females, as it is an X-linked dominant disorder and males with a defective X chromosome die prematurely. It is rare, with an estimate of 1:10000 - 1:15000 live female births. (4) This is when Stage II begins, with deterioration of mental processes. The rate of deterioration varies. Symptoms…

The speaker Adrienne Bashista gave a very insightful speech about what Fetal Alcohol Syndrome is and how it is caused. Before our speaker told us about her son, I had very little knowledge about what FASD was. I now realize how severe FASD is and how even the slightest consumption of alcohol can affect a fetus during pregnancy. I became aware that FASD is a rare syndrome that only 2 to 5 percent of the population have. This statistic surprised me due to a large amount of woman who may drink when…

Williams Syndrome (WS) is a rare genetic disorder that affects approximately 20,000 people in the United States. This condition is present at birth. The causes of Williams syndrome is due to the deletion of 26 plus genes on one of an individual’s chromosome #7. Individuals born with Williams syndrome share a number of common neurological, medical, and behavioral characteristics as well as common facial…

Asperger’s syndrome. Asperger’s syndrome is considered to be a milder form of Autism which explains Harpers obsession over weather facts and insensitivity towards peers (Whitbread,…

Mayo Clinic is saying several different genes are involved in Autism. They say this Rett syndrome or a fragile x chromosome. Mayo is saying that the environmental aspect is still being researched, but the genetic problems could lead to some environmental problems for the child. Mayo also wants to stress that there is no connection between Autism…

The medical definition of autism, as listed by Heward (2006), is that it is a neurobehavioral syndrome that consists of impairments of social interaction, communication, and restricted repetitive, and stereotyped patterns of behavior. Autism was first used to describe children in 1943 by psychiatrist Leo Kanner at Johns Hopkins Hospital in Baltimore, Maryland. According to Kanner’s case reports, 11 children displayed behaviors that were completely different from any other behavior that had been…

mothers breath, the air that growing fetuses receive. Our diet and exercise choices are making an impact, even for people who strive to be healthy, a large portion of our diet contains pesticides and growth hormones that later affect the child. With culture in America and many other places in the world it has become normal to have a child at a later age due to more stable financial situations and so they can enjoy their youth a little longer. The choice to wait is a doubled edged sword when…

Angelman Syndrome Description of the Disease An extremely rare and uncommon disease known as Angelman Syndrome is a very complex neurodevelopmental and monogenic disorder (Bailus, 2014). The term neurodevelopmental refers to the shape, reshape, state and generation of the nervous system during the embryonic stages of life, while the term monogenic can be explained as a disease, which is controlled and inherited, by a single pair of genes (Gentile, 2009). It is estimated that Angelman Syndrome…