ANGELMAN

SYNDROME

June Berasaluce, María Alejandra Leongómez, Eneko Ortiz,

Santos
Iratxe Reza and Paula

Group 4

General information
Causes

you should know

Loss of function of gene UBE3A
1. Neurodevelopmental disorder
2. Affects CNS and neurobehavioral located in chromosome 15
development UBE3A gene can be altered:
3. Difficulties: learning, ataxia (affects 1. Deletion of the maternal chromosome
coordination, balance and speech) in the region where the active UBE3A
4. Seizure disorder and dysmorphic gene resides
facial features 2. Imprinting center defect
5. Happy and sociable disposition a. UBE3A is canceled since the
6. Harry Angelman discovered it chromosome 15 inherited from the
mother has the paternal
expression of the gene

It can be used:
Non-invasive prenatal testing Evaluation
(very effective)
Developmental setbacks
Methylation analysis of chromosomes section
15q11-13 Intellectual disabilities
(to see if there is deletion) Delay in speech or
Electroencephalograms (EEG) or DNA sequencing Most of them are total incapacity of speaking
visible in childhood

Epilepsy
Some kids unable to walk
and must use wheelchair Cheerful personality

Sleep issues

Postnatal microcephaly

Physical similarities and

short seizure

Symptoms

Different methods :
Therapies to lighten any motor delay
Strategies to enable them to be more communicative
intervention when ASD comorbidity happens
(when another disorder appears, apart the one we
already know)
Sleep problems treated with medicine and behavioral
intervention
Skin and eye protection --> for hypopigmentation
Behavior modification programs --> for aggressive
patients
Therapy