Hi, this is Tom, and in this episode I'm going to be going to be going through Angelman Syndrome.

And you can find notes at zero to finals.com slash angelman and in the zero to finals pediatrics book.

And I recommend checking out the zero to finals finals revision book, which you can find at zero to finals shop.com,

which is the perfect foundation for your finals revision. It's fully illustrated

in color, only 160 pages and covers all the key topics you need for finals revision from medicine,

surgery, pediatrics, obs and guine, psychiatry and dermatology. That's at zero to finals shop.com.

So let's jump straight in. Angelman syndrome is a genetic condition caused by loss of function or expression of the

maternal copy of the UBE 3A gene on chromosome 15.

This can be the result of one of the following mechanisms.

Maternal deletion of the gene, mutation in the maternal copy of the

gene, or when both copies of the gene are inherited from the father. Let's go through the features.

The key features of Angel Man Syndrome include delayed development and learning disability, severe delay or absence

of speech development, coordination and balance problems, or ataxia, a fascination with water,

a happy demeanor, inappropriate laughter, hand flapping, abnormal sleep patterns,

hyperactivity, epilepsy, a wide mouth with widely spaced teeth, microcephaly, which is a small

head, and fair skin, light hair, and blue eyes.

A tom tip for you, the key features of Angerman Syndrome to remember are the unusual fascination

with water, happy demeanor, severe speech impairment, and ataxia.

Let's talk about management.

Management is supportive with input from the multidisciplinary team.

Speech and language therapy plays an important role.

Melatonin may be used to help with sleep. Anti Antipaleptic drugs may be used to treat seizures.

...