Case Study - A CASE REPORT OF A 2.5-YEAR-OLD GIRL WITH ANGELMAN SYNDROME (AS)

This is a summary of the girl who was diagnosed with Angelman Syndrome (AS):

The patient, a 2.5-year-old girl, was the first child of healthy first-cousin parents. She had a positive family history of epilepsy and mental retardation in her aunt and her cousin.

The girl was diagnosed at 27 month with facial features such has having a head with a small braincase (microcephaly) and mental retardation. Other symptoms were absence of speech, inability to gait and paroxysmal episodes of laughter with a wide mouth, a protruded tongue and mandibular prognathism (protrusion of the maxilla and/or mandible the in other words the upper and/or lower jaw). She had a happy disposition with outbreak of laughter.

Computerized tomography (CT scan) findings in two studies were normal or showed cerebral atrophy and ventricular dilatation in a minority of the patients. One report described an abnormally convoluted surface area of the cortex in the parietal lobe of the Sylvian fissure (a large diagonal fissure on the lateral surface of the brain which separates off the temporal lobe) in the supramarginal gyrus (shown in Fig.1), using specific techniques in MRI (Magnetic Resonance Imaging).

Fig.1

References:

• http://www.sid.ir/en/vewssid/j_pdf/108320100409.pdf
• http://mdd.psych.ac.cn/images/entity_pics/28.bmp

WHY does this happen?

Most cases of Angelman syndrome are not inherited.

It is caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development.
Affected people typically can have no history of the disorder in their family but it can still be passed on from one generation to the next.

Although causes of Angelman syndrome are unknown in 10 to 15 percent of affected individuals, changes involving other genes or chromosomes maybe responsible for the disorder in these cases.


References: https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes
                    https://ghr.nlm.nih.gov/condition/angelman-syndrome#inheritance

Symptoms of Angelman Syndrome:

As a child:
- Are usually born with a small head size.
- Suffer from epilepsy, intellectual disability, severe speech impairment and ataxia.
- Have problems with movement and balance.
- Tend to be optimistic; they frequently laugh and smile with hand-flapping movements.
- Very hyperactive; have short attention span.
- Very hard to put to sleep; they do not sleep for long.


As they grow older (adult):
- Optimistic behaviour fades.
- They sleep better.
- Still do suffer from epilepsy, intellectual disability and severe speech impairment.

References: https://geneticmutationruebe3.wikispaces.com/file/view/williams-syndrome-picture.jpg/309930318/williams-syndrome-picture.jpg 

What is Angelman Syndrome?

It is a genetic disorder which primarily affects the nervous system and symptoms can usually be detected in early childhood, delayed development can be noticeable by 6 to 12 months. This condition will affect the child's intellectual disability, speech impairment, movements and balance.

Children that are affected usually have recurrent seizures and a small head size. The children with Angelman Syndrome are usually happy excited attitude, frequently smiling and laughing or in another words hyperactive. They are also have no sense of danger.

Adults with Angelman Syndrome have distinct facial features that is described as 'coarse'. They also have fair-skin and light coloured hair, their spine is abnormally curved. Despites all these defects, their lifespan is the same as normal people.




References: https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes

Welcome :)

We are students from Ngee Ann Polytechnic, School of Life Science and Chemical Technology.

This blog will be introducing a genetic disorder called Angelman Syndrome.

The blog will cover different areas which include an introduction of this genetic disorder, symptoms, diagnosis, recent reports and also the current cures.


References: https://youtu.be/U5J0kvFSTtA