Biology assignment paper - TOURETTE DISEASE

Biology assignment paper - TOURETTE DISEASE
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    Biology research assignment Genetic Disorderds TOURETTE SYNDROME Konarbayeva Amina, 11 “K”  Teacher: Burkhard   Rochel 02.25.2019    SYNDROME   Tourette syndrome (TS) is a neurological disorder that becomes evident in early childhood or adolescence and can be characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics . The disorder is named for Dr. Georges Gilles de la Tourette, the French neurologist who in 1885 first described symptoms in an 86-year-old French noblewoman. In years symptoms usually improves or gone completely. Recent studies suggest that a small number of cases of Tourette's syndrome may be caused by a defect on the chromosome 13 of the SLITRK1 gene.  In some cases, tourettism (tics for reasons other than inherited Tourette's syndrome) can be caused by mutation . Data from studies of twins and families show that TS is a hereditary disease . Although early family studies suggested an autosomal dominant mode of inheritance (autosomal dominant disorder is a disease in which only one copy of a defective gene inherited from one parent is needed to cause the disorder), later studies show that the inheritance pattern is much more complex.  Although there may be several genes with significant effects, it is also possible that many genes with less effects and environmental factors may play a role in the development of TS. People with Tourette's syndrome may also have obsessive compulsive disorder   (OCD), attention deficit hyperactivity disorder   (ADHD) or learning difficulties. 1  Tourette syndrome and other tic disorders are not uncommon. It is estimated that 1 in every 160 children between the ages of 5-17 in the US suffers from Tourette's syndrome and that 1 in every 100 children have nerve tics. In general, males have risk of having a Tourette syndrome higher in three times than female. However, women are at greater risk of getting sick if they have OCD (that is generally more common among female gender) . Ticks are classified as simple  and complex . Simple motor tics  are sudden, brief, repetitive movements that involve a limited amount of muscle tissue. Some of the more common simple tics include eye blinking and other eye movements, grimacing of the face, shrug, twitching of head or shoulders. They are also including reproducing repeating sounds. For example, clearing your throat, sniffing or grunting can be considered. Complex motor tics  can include grimaces on the face in combination with a turn of the head and a shrug. Other complex motor ticks may actually seem purposeful, including sniffing or touching objects, bouncing, jumping, hitting objects, or rolling around on the floor. More complex vocal tics include words or phrases, snorting, grunting or barking. Perhaps the most dramatic and disabling tics include motor movements that lead to self-harm, such as a hitting face or vocal tics, including coprolalia  (pronouncing socially inappropriate words such as swearing) or echolalia  (repeating words or phrases of others). However, coprolalia is present only in a small number (10 to 15 per cent) of persons with CU. Tics is often worse with excitement or anxiety and better during calm, focused activities. Tics do not go away during sleep, but often significantly decreased. 2   1, by   National Institutes of Health, February, 2018 2, American governmental organization  However, many psychologists and doctors are adamant about exclusiveness of this disorder and say that people with Tourette can have ordinary life like others. For example, Tim Howard's World Cup goalkeeping has been universally acclaimed. However, he has Tourette's syndrome and specialists think that it might be a reason of his superb reactions on the football field. 3  In addition, people with Tourette's tend to be very good at controlling their voluntary movements. Tourette's syndrome is not treated, and most children with tics do not need treatment. In some cases, treatment may be recommended to help you control tics. The treatment includes: behavioral therapy and medication. Neuroleptics (drugs that may be used to treat psychotic and non-psychotic mental disorders) are the most useful drugs to suppress Tourette's syndrome; some of them are available, but some are more effective than others (for example, haloperidol and pimozide). 4  There's no single test for Tourette's. Tests and scans such as MRI and others do not detect this disorder. The patient can be diagnosed with Tourette's syndrome if he has had several ticks for at least a year. Getting a solid diagnosis can help the doctor better understand the problem, as well as access the right kind of treatment and support.    3,  by BBC, “Who, What Why”   magazine, July, 2014 4, by National Institutes of Health, February, 2018  
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