Jonathan Juste
4/21/14
Hum. Bio
Analysis of Angelman Syndrome
In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome. Angelman syndrome is a neuro-genetic disorder that is usually diagnosed at a very young age, and it happens within 1 in every 15,000 births. Angelman syndrome have symptoms that can be easily mistaken with cerebral palsy or autism. Symptoms of the disorder include developmental delay, lack of speech, seizures, walking and balance disorders, sleep disturbances, hyperactivity, and frequent laughter or smiling. If a baby or child is diagnosed with Angelman syndrome they will require life-long care due to the fact that there is no cure. Due to having similarities with autism and cerebral palsy, Angelman syndrome is often misdiagnosed. Misdiagnoses are a prevalent problem today which can also lead to late diagnoses as well. When this happens, the lost time may cause inflicted individuals to lose opportunities for early intervention programs, life-altering treatments, resources, and customized personal support.
So how does one know if their child has Angelman? Usually when people have Angelman syndrome, they seem to be be normal at birth. As we all should already know, We each have two number 15 chromosomes, one inherited from both our mother and father. The Angelman syndrome gene (UBE3A) is located at chromosome 15, band q12, as depicted. In the brain, the Angelman gene is primarily expressed from the maternally inherited chromosome 15. There are four known genetic mechanisms that cause Angelman syndrome.
The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...
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...t behavior, and abnormal physical movements. Despite the positive outlooks one must remember that the seizures do take a toll on a person’s health and although the brain in most cases is able to withstand seizure problems without any neuro-degeneration events or any morphologic changes; those with AS should expect to see life expectancy drop anywhere from 10-15 years. With that being said, that still gives anyone afflicted a maximum of 65-70 years if treated correctly which can be considered a good thing because there are other disorders that can do a lot more damage.
In sum, Angelman syndrome is a rarity, and researchers are working very diligently to gain more information on how it works, treatment options, and also an eventual cure. Until then, children and adults will continue to live on receiving treatments and therapies in order to deal with the symptoms.
First and foremost, Eisenmenger syndrome was initially described in 1897 when German physician, Victor Eisenmenger, reported on a patient with symptoms of dyspnea and cyanosis from infancy that subsequently developed heart failure (Connolly, 2014). The postmortem description was revealed and a ventricular septal defect was discovered (El-Chami et al., 2014a). With that being said, this had been the first time that the link between a large congenital cardiac shunt defect and the development of pulmonary hypertension had ever been noted (El-Chami et al., 2014b). The normal heart has four chambers. The two upper chambers are separated from each other by the atrial septum (NORD, 2014a). The two lower chambers are known as ventricles and are separated from each other by the ventricular septum (NORD, 2014b).
On a normal person, you have 23 pairs of chromosomes. In each pair, 1 gene comes from the mother, and 1 gene comes from the father. This is how things get passed down from parents to children (like eye color, height, skin tone etc...).
Because Williams Syndrome is very uncommon within a large crowd among people, the causes that are known to trigger the disorder are very few. The causes or conditions that are known to trigger Williams Syndrome is by the deletion of twenty-six to twenty-eight genes on chromosome #7. Many people may conclude that just because Williams Syndrome is a “genetic” disorder meaning that it has to be inherited from their parents are incorrect. Most people may not inherit Williams syndrome because the chances of his or her child to inherit the syndrome is a low 50/50 chance. That is because when the deletion of the 26 – 28 genes that takes place within the chromosome number seven are of what randomly chosen events that particularly occur in the male or female eggs or sperm .When dealing with Williams syndrome many symptoms may come upon the person with this disorder. Some of the symptoms may be not be that eye catching or life threating but some, however some can be life threating. In resulting the person to ...
Williams, C. A., Angelman, H., Clayton-Smith, J., Driscoll, D. J., Hendrickson, J. E., Knoll, J., Magenis, R., Schinzel, A., Wagstaff, J., Whidden, E. M. & Zori, R. T. (1995). Angelman Syndrome: Consensus for Diagnostic Criteria. American Journal of Medical Genetics, 56, 237-238.
Turner’s Syndrome, which is one of the most common chromosomal abnormalities, is defined as “a syndrome with a chromosome count of 45 and only one X chromosome.” Turner’s was first described in 1938. Henry Turner, an endocrinologist from Oklahoma City, was the first to discover this syndrome. He was curious about why seven of his female patients, six adolescents and one adult, who he was treating for dwarfism and lack of development, were not responding to the treatments. He described the women as not matured, with short necks and low hairlines in the back, and an increased angle at which the elbow was bent. After many tests, the results showed that all of the women were missing an X chromosome.
Angelman Syndrome is a neuro-genetic disorder, brought upon the body through the mutilation or deletion of the maternal 15th chromosome. The prevalence of this disorder is still constantly debated because of the common symptoms it shares with other disorders, making it difficult to recognize and differentiate. More specific studies of behavior are needed to increase the range of knowledge on such a complex disorder. In 2007 Dr. Weeber relieved a mouse model of many symptoms of Angelman Syndrome. Studies of this disease are crucial for finding the cure. Even though this is a difficult challenge, there are signs of hope to cure this disease for humans.
In the 1960’s, an Austrian pediatrician, Dr. Andres Rett, recognized a few of his female patients with similar indications of having some type of neurologic disorder but did not fit the cerebral palsy classification (Zoghbi, 2002). Without the knowledge of earlier research, a Swedish physician, Bengt Hagberg, began to openly speak about his observations similarly to Dr. Andres Rett records (Zoghbi, 2002). Bengt Hagberg observed numerous of female patients with this unknown syndrome and was curious in their wringing hand movement that no textbook had information on. In June 1981 Dr. Neil Gordon hosted a board meeting of the European Federations of Child Neurology Societies in Manchester and Bengt Hagberg had the opportunity to share his studies there. The discussion group had other pediatric neurologists that had seen the same behaviors but they all were unable to categorize it into its own identity. As years past, this syndrome has increased and neurologist began to evaluate this syndrome t...
Researchers have founded numerous genes that cause to become Albino. The genes are situated on autosomal chromosomes. Autosomes are the chromosomes that contain genes for overall body features. Genes carry the material that makes you a person. We usually have two duplicates of these chromosomes and genes: one inherited from our father, the other inherited from our mother. Albinism is a recessive trait and someone without albi...
Studies have shown that 9 out of 10 people will have a seizure in their lifetime. Every person is different not every case is the same. There is no known cure for this disability. There are studies that are going on today that are trying to find out more about Epilepsy.
You should have your child see a doctor when it’s born if the child lacks pigment in their hair or eyes. The doctor should follow them closely doing eye exams and blood work. Another way to tell if your child might have albinism is at birth the child has movement of their eyes back and forth or turns like a rotary (nystagmus).
Do you know there is a medically diagnosed disorder that affects over two American children?” Experts on the subject say there are many more undiscovered cases out there and the cause is still unknown. It sounds like we have a really big problem. The thing is, the disorder that affects all these children, isn’t a disorder at all.
There is no known single cause of autism. Researchers are investigating a number of possible theories including genetics, heredity, medical problems, problems during pregnancy or delivery, as well as environmental influences. It is widely accepted that it is caused by abnormalities in the brain structure or function. There is evidence from neuropathological studies that autism has its origins in abnormal brain development early in prenatal life which continues postnatally, showing acceleration in brain growth measured by head circumference (Zwaigenbaum, L., Bryson, S., Rogers, T., Roberts, W., Brian, J., & Szatmari, P., 2005). The disorder also seems to have a genetic basis, although researchers have yet to find the specific genes that link to the onset of autism. There could be a cluster of genes that have somehow interfered with normal brain development and function. Studies show that twins of children with autism were more likely to be autistic themselves than the regular population, demonstrating there is a heredity lin...
Understanding autism, which is professionally known as Autism Spectrum Disorder, otherwise known as (ADS) can be a difficult task, especially for someone who is not trained in helping persons with disabilities. The first person to discover autism was a child psychiatrist, Dr. Leo Kanner in 1943. He names the spectrum disorder after the Greek word autos, meaning of or for oneself, due to the way the child display social avoidance. Many doctors’ believed in the past that autism was caused by the way the mother not caring for her child properly or ignoring him or her. There was also a time when it was thought to be caused by certain environmental stresses that cause neurological issues within the brain. Autism is one of the most misunderstood
The assessment included ophthalmologic, audiologic, and general physical examinations, as well as serum chemistries and routine urinalysis. Peripheral blood samples was extracted from the patients, their unaffected siblings, and their parents. The genomic DNA from all samples was amplified with ALMS1 exon 16-specific primers, and products were purified and sequenced using the 3730×l DNA Analyzer. In the results, the researchers compared two patients from a highly consanguineous kindred from the small village, in which they both had the syndrome caused by homozygous inheritance for an identical insertion of 333 bp in exon 16 of ALMS1 gene. By studying the transposable sequence, it was discovered that it belonged to the class of Alu Ya5 elements. When compared to the wild-type ALMS1 allele, the ALMS1Alu allele had a target site duplication which is characteristic of the Alu insertion mechanism. The long uninterrupted stretch of adenosine suggests that the sequence was inserted by a retrotransposable event. Heterozygous carriers of the mutated insertion was identified by haplotype analysis with chromosome 2p13-specific microsatellite markers and confirmed by PCR genotyping for the presence of the Alu allele. The wild type allele PCR product size is 313 bps, whereas the Alu allele PCR product size is 646
Albinism affects people of all races. Most children with albinism are born to parents who have normal hair and eye color from their ethnic backgrounds. Albinism is found on the eleventh chromosome, section q, loci 14-21. Oculocutaneous albinism involves the eyes, hair, and skin. Ocular albinism involves primarily the eye.