so today is national #AngelmanSyndrome day. Here is a 🧵 to help you know more.
A condition affecting between 1 in 12,000-20,000 people
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A condition affecting between 1 in 12,000-20,000 people
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Angelman Syndrome is a genetic condition affecting the nervous system causing Learning and Physical disabilities.
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It is caused by absence or faulty copy of gene E3 ubiquitin protein ligase (UBE3A). In some instances, duplicate copies from the father and none from the mother can also result in the condition
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Diagnosis is usually via blood test and can include bloods from parents.
The condition usually is noticed at 6-12months when children develop slower than their milestones.
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The condition usually is noticed at 6-12months when children develop slower than their milestones.
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Children generally are unable to speak/speak in single words/vocalisations however can learn to communicate through signs, symbols or use of those vocalisations. Hypotonia is also common
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Increased prevalance of epilepsy, balance/motor coordination issues including ataxia.
Increasing stiffness in limbs is noted into adulthood.
Scoliosis is also common.
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Increasing stiffness in limbs is noted into adulthood.
Scoliosis is also common.
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Goals of physiotherapy should include
- management of ataxia and coordiantion
- balance and mobility work (commonly deteriorates in later adolescence with growth periods)
- preservation of flexibility into adulthood
- scoliosis monitoring and support
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- management of ataxia and coordiantion
- balance and mobility work (commonly deteriorates in later adolescence with growth periods)
- preservation of flexibility into adulthood
- scoliosis monitoring and support
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People with Angelman will display characteristic facial features which do not impact physio input (so not much point listing here).
More important is to note that short attention spans means you must be prepared in your sessions to be flexible in your approach.
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More important is to note that short attention spans means you must be prepared in your sessions to be flexible in your approach.
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People may also smile and laugh lots which can give the impression of a happy/cheeky demeanor. Further reading can be found here: pubmed.ncbi.nlm.nih.gov/34449677/
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