Hello and welcome to the Zero to Finals podcast. My name is Tom and in this episode I'm going to be talking to you about Angelman syndrome.

If you want to follow along with written notes on this topic, you can follow along at serodifinals.com slash

angelman or in the genetic condition section of the zero to finals pediatrics book.

So let's get straight into it.

Angelman syndrome is a genetic condition caused by a loss of function of the U.B.E.3A. gene,

specifically the copy of the gene that's inherited from the mother.

This can be caused by a deletion on chromosome 15, a specific mutation in this gene, or where two

copies of chromosome 15 are contributed by the father with no copy from the mother.

There are some key features to look out for in your exams, and these are delayed development and learning disability,

severe delay or absence of speech development,

coordination and balance problems, specifically ataxia,

fascination with water,

happy demeanor, inappropriate laughter, hand flapping, abnormal sleep

patterns, epilepsy, attention deficit hyperactivity disorder or ADHD, dysmorphic features,

microkephaly or a small head, fair skin, light hair and blue eyes,

and a wide mouth with widely spaced teeth. A quick tom tip for you. The novel features to

remember and link with Angelman syndrome so that you can spot it in your exams is an unusual

fascination with water, a happy demeanor and widely spaced teeth. If you see these features

occurring together, think about Angelman syndrome. Let's talk about management. Like many other

genetic conditions, there's no cure and management focuses on a multidisciplinary

team approach to managing individual problems and supporting the patient and carers holistically.

This involves parental education about the condition, social services and social support,

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