What Is Angelman Syndrome Biology Essay

What Is Angelman Syndrome Biology EssayP bents What is Angelman Syndrome? Me Angelman syndrome is a nervous trouble oneself of the brain overly called as Puppet syndrome. The syndrome was starting reported by a British pediatrician Dr. Harry Angelman in 1965. It leads to mental disorder accompanied with speech problems. This is a very r befied condition that sometimes even doctors be non completely sensible of it. The syndrome is often misdiagnosed with cerebral palsy, autism or other(a) mental disorders of children. The progressrence is some 1 in 25,000.P arnts What is the Prognosis of the syndrome?Me The individuals with this condition have quite a healthy and normal life span. Some of the ordinary features that dope be noted be sleeping disorders, attention deficiency, speech problems and hyperactivity. Even these nominate slowly diminish with age. Their sexual development is normal. Puberty and menstrual round of drinks be too normal and occur at the right adju dicate age. There are high risks of having flagitious developmental delays which post be minimized or avoided to an extent by early diagnosis and therapy. They goat lead an independent adult life except people who also have epilepsy along with this syndrome.Parents We found her being slightly abnormal, she wasnt able to postp onement what we are telling and is really struggling to pronounce words. What are the other possible symptoms?Me The main symptoms of the disorder are mental retardation, speech problems and active behavior. It is usually present right from birth barely the symptoms of it are for the most part not noticed until the age of 3. But certain developmental delays can be noted amid 6 to 12 months of the child.Usually their magnetic resonance imaging and CT scan reports manoeuver structurally normal brain features. They whitethorn have no speech or very low oratory capacity. They have higher tendency in actions rather than verbal communication.They show some unique behavior standardised hand flapping, attention deficiency, ghost laughter, sleeping disturbances, delayed toilet training, victuals problems and easily excitable personality.Seizures are noted only after the age of leash so the misfortune of identifying the syndrome before this age is not continuously possible. Their Electroencephalography (EEG) reports turn out to be abnormal EEG is a test used to check the flighty activity of the brain. They have much attraction to water and are extremely sensitive to heat.It is not completely known why laughter is so frequent in this syndrome. Continuous smiling, abnormal facial gestures followed by bust of laughter in public are noted in close to 70 75% of the cases.They may not have good equilibrize capacity to walk. Trembling legs are noted along with ataxia. Ataxia is a condition where there is no co-ordination of muscular movements. They have trembling feet caseing is deterioration to walk. Normal sitting and walking m ay take 3-4 yrs of age. In highly severe cases walking is not possible until they are older, or it may be robotic.100% of the cases are mentally retarded with attention deficit and which is non-progressive. They may be severe in most of the cases. Mostly they would exact a sheltered life in their adulthood.Parents Oh Do they show either abnormal physical features? Because our daughter seems to look quite normal.Me Yes They do. Some of the common ones are a flat caput at the back, wide exposed mouth with spaced teeth, light hair and eye color, deep sterilise eyes, excessive chewing behaviors, lightly pigmented skin texture, uplifted arm position, over do toes, soft and tender palms, tongue thrusting, and frequent drooling. A small head may be found in certain cases. All the symptoms which I have said both physical and clinical need not necessarily be found in all kids with this syndrome. They may occur in different combinations and in different levels.Parents How did the condi tion arise?Me Angelman syndrome occurs due(p) to the deletion of a part of the chromosome 15 known as 15q11-13 that comes from the amaze which results in abnormal or no manner of the maternal chromosome in the child. And hence all the functions of the chromosome 15 are being affected. Around 60-65% patients are affected by this cause.In 2-5% of the cases there may be cardinal copies of chromosome 15 from the father and no chromosome from the go. This condition is termed as uniparental disomy. Sometimes the chromosome obtained from the mother functions exactly the same as the chromosome obtained from the father.Rarely AS may result due to breaks in the chromosome like translocation where two chromosomes break and exchange their mazed pieces. The other type is inversion where a chromosome breaks and gets attached in the setback direction. In both these cases the exact combination of amino acids is changed which would affect the product of ubiquitin ligase protein.And finally in 20% cases there may be a fault in the UBE3A gene which is present on chromosome 15. UBE3A is ubiquitin ligase, which is considered as one of the major factors for the normal development and functioning of the brain. The relevancy of this gene to the disease is not yet completely known. 15-20% of the cases are unidentified mutation. They are even so under study and a clear cause is not defined.Parents What is the magnificence of these chromosomes?Me Every chromosome is made of DNA which consists of specific amino acids. Different combinations of amino acids dish up in producing different proteins which are responsible for specific functions in the body. So when there is an alteration in the chromosome it affects the production of the particular protein. So automatically the protein function is lost and the relevant disorder arises. The protein that is involved in brain growth and function is called as ubiquitin ligase protein which is produced from the chromosome 15 of the moth er.The condition is always from the chromosome 15 of the mother. The same chromosome from the father is also equally important entirely alterations in the fathers gene would lead to a different condition called the Prader Willi Syndrome.Parents What are the ways of diagnosis?Me Diagnosing AS is difficult during infancy. The criteria for diagnosis was develop only in 1995 and further revised in 2000 by the Angelman syndrome ships company (USA). In certain cases parents or doctors may find developmental delays between 6-12 months of the child. Even all brain scan reports turn to be quite normal. Only after the age of two or three illustrious changes can be found like concentration problems, speech impairment, equilibrise disorder, frequent smiling or flapping of hands. After the age of three EEG reports can be found abnormal which is be followed by DNA analysis. Sometimes even genetic reports turn out to be normal which can lead to a lot of confusion and misdiagnosis. Family wri te up of the syndrome and development history of the child is completely studied and genetic expression of the ubiquitin protein is confirmed.The confirmatory test for the Angelman Syndrome involves testing of blood in four moveThe size, shape and number of chromosomes in a cell sample are noted for changes. This is known as karyotyping.Genetic analysis to find absentminded chromosomes. This is done by a specialized process called FISH (fluorescent unaffected hybridization).A test called DNA methylation test is done where the result lead confirm whether the DNA of both the parents is uttered. If both the DNA copies are expressed it means that they are active. In cases of AS only paternal or the fathers DNA is expressed.Finally UBE3A protein is sequenced. This is done because sometimes DNA methylation test turns to be normal. This is due to the condition that maternal DNA is normally expressed but mutated.Parents Is Gene therapy possible. What are the other possible treatment met hods?Me There is no possible treatment for the disease at the genetic level. Since 99% of the cases are spontaneous mutation the possibility of prevention is also at the to the lowest degree level. Angelman syndrome is a collection of various medical conditions hence separate therapies can be carried out for every symptom to provide a break away lifestyle for the patient. The therapies are selected according to the noted symptoms and their level of effect on the individual.From the age of 3 speech and communication therapy is recommended for improving their speaking and communication skills. Occupational therapy is carried out for everyday living skills. Physiotherapy can help in better walking and other motor activities. Sometimes hypermotoric behaviors affectation be controlled by behavioral therapy so perfectly safe purlieu must be provided.If the condition is accompanied by epilepsy, separate medications are followed as prescribed by the physician for treatment of seizures. Medications are also available for sleeping problems, hyperactivity etc. Non prescribed sedatives are not to be given because they may lead to negative side effects. Because that they have feeding problems their nutritional status should be frequently monitored. Surgeries are available for conditions like strabismus and other orthopedic problems. Surgical rod stabilization is done for severe curvatures. During old age the individuals become less mobile and are not much active. They must be given scheduled pee-pee under supervision to avoid obesity and scoliosis. Scoliosis is a condition of severe curvature side to side in the spinal cord.Parents What is the mode of heritage? Will our future children be affected?The risk of inheritance is ground upon the type of mutation that occurs in the parents.With no family history for the disease and if the particular is completely spontaneous during cell division then the chances of getting the disorder in consequent children is