Sample Essay on Angelman Syndrome
Angelman Syndrome [AS] is a neuro-genetic disorder that primarily affects the nervous system. It is a disorder that is present at birth and comes with several characteristics. It is a classic model of genomic imprinting, as it is caused by the deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy may be of the normal chain and it is imprinted and silenced. British pediatrician, Harry Angelman described the syndrome in 1965; hence it is named after him.
Traditionally, AS was known as the “happy puppet syndrome”, but the name was abandoned due to its uncomplimentary and stigmatizing nature. Individuals suffering from Angelman Syndrome are also known as “angels” because of the syndromes name and youthful appearance of the patient. AS being a rare genetic condition, it is estimate that it affects 1 in 25,000 people. Through the signs and symptoms of Angelman Syndrome, it is easy to identify and diagnosis this condition. The known symptoms include;
- Development delay
- Speech impairment
- Balance or movement disorder
- Behavioral uniqueness
- Delayed and disproportionate growth in head circumference
- Hypopigmented skin and eyes
- Tongue suck and swallowing
- Hyperactive tendon reflexes
- Feeding problems in infancy
- Prominent mandible
- Increased sensitivity to heat
- Wide-spaced teeth
- Sleeping disorder
- Frequent drooling
- Smooth palms and
- Excessive chewing and mouthing behaviors.
Angelman Syndrome is not only caused by the loss of the maternal contribution to a region of chromosome 15, by deletion of a segment of that chromosome, but also by uniparental disomy, translocation or single gene mutation in that region. The diagnosis of AS is based on history of delayed motor milestones and delay in general development especially speech development. Unusual movements like fine tremors, hand flapping, jerk limb movement and stiff-legged gait features can also aid in the diagnosis of this condition.
A history of epilepsy and abnormal electroencephalogram [EEG] tracing also make it easy for a specialist to diagnosis AS. Physicians also base the diagnosis of AS on a happy disposition with frequent laughter and a deletion or inactivity on chromosome 15 by array comparative genomic hybridization [aCGH] or by BACs-on-Beads technology. Notably, the diagnostic criteria were initially established in 1995 in collaboration with the Angelman Syndrome Foundation [USA] and these criteria were also revised in 2005.
Currently, there is no available cure for the Angelman Syndrome. In case of epilepsy symptoms, they can be controlled by use of one of the many types of anticonvulsant medications. Nevertheless, there are troubles in finding the levels and types of anticonvulsant medications needed to control the epilepsy, because AS is also associated multiple variety seizures but not just the one seizure in normal cases of epilepsy.
Many families also rely on melatonin to enhance sleep in patients. It is also advisable to use mild laxatives as they frequently spur regular bowel movements. Early intervention with physiotherapy is essential to boost joint mobility and prevent stiffening of the joints. It is advisable to always seek medication and consultation from experienced and certified doctors or physicians.
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