<p>Prof Bernard Dan discusses epilepsy in Angelman syndrome</p>

Prof Bernard Dan discusses epilepsy in Angelman syndrome

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Key Fact
Seizures are very common in Angelman syndrome and tend to be more severe during childhood.

Health Issues in Angelman Syndrome

Many individuals with Angelman syndrome may experience feeding problems during infancy.


Seizures

Approximately 8 out of 10 individuals will experience seizures.  Many different types of seizures have been reported in Angelman syndrome and they are often more severe in individuals who have a chromosome 15q11-13 deletion subtype.  To read more about genetics, click here. Recurrent seizures often lead to a diagnosis of epilepsy and this is usually most severe throughout childhood.  Most seizure activity can be controlled by medications prescribed by a paediatric neurologist. 

 

Curvature of the spine

Scoliosis (curvature) of the spine occurs in approximately 1 in 10 children with Angelman syndrome, but is more common in adulthood.  This should be regularly monitored in all children and adults with Angelman syndrome.

 

Mobility

Mobility in Angelman syndrome can decrease with age due to hypertonicity of the limbs (increased tension of muscles), meaning that muscle tone is very rigid which can make movement very difficult. 

 

Reflux

Reflux refers to the backward or return flow of the stomach contents into the oesophagus, similar to what many people know as ‘heartburn’.  There is provisional evidence to suggest that reflux may be a problem for some children with Angelman syndrome, however more evidence is needed before this can be confirmed for certain.

 

Associations between health difficulties and behavioural difficulties

Health difficulties in individuals with genetic syndromes have been linked to behavioural difficulties.

For more information on identifying pain in children with communication and/or intellectual disability please click here.

 

 

 

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