angelman syndrome by Josie Ryan

Angelman syndrome

kadiezurbo — 2024-08-29 13:53:25 UTC

Causes

kadiezurbo — 2024-08-29 13:57:17 UTC

UBE3A gene

kadiezurbo — 2024-08-29 13:59:15 UTC

the UBE3A gene is a gene on the 15th chromosome and is a paternal imprinted gene in the brain. If an individual inherits a mutated UBE3A gene (that causes the gene to lose function) from their mother they will have Angelman syndrome.

Cohen K (2024) Week 3 Workshop, University of Canberra website https://uclearn.canberra.edu.au.

Angelman Syndrome Foundation (2024) Symptoms and Causes, Angelman Syndrome Foundation website https://www.angelman.org/what-is-as/symptoms-and-causes/

15th chromosome

kadiezurbo — 2024-08-29 14:38:00 UTC

When the chromosome 15 has a deletion or UPS n the UBE3A gene Angelman syndrome can occur.

Cohen K (2024) Week 3 Workshop, University of Canberra, website https://uclearn.canberra.edu.au.

maternal gene mutation

kadiezurbo — 2024-08-29 14:38:52 UTC

the maternal gene of UBE3A is expressed so if the offspring has inherited a mutated UBE3A gene from the mother it will be expressed.

Cohen K (2024) Week 3 Workshop, University of Canberra, website https://uclearn.canberra.edu.au.

paternal imprinted gene

kadiezurbo — 2024-08-29 14:39:09 UTC

the paternal UBE3A gene is imprinted so even if the paternal UBE3A gene is normal the gene is not expressed.

Cohen K (2024) Week 3 Workshop, University of Canberra, website https://uclearn.canberra.edu.au.

symptoms

kadiezurbo — 2024-08-30 02:39:57 UTC

Developmental delays

kadiezurbo — 2024-08-30 02:56:50 UTC

individuals with Angelman syndrome commonly have developmental delays as infants such as an inability to support their head, learning to stand, delayed motor skills like crawling and problems sucking or swallowing. developmental delays can also commonly be found in young children with delayed ability to walk and balance issues.

Angelman Syndrome Foundation (2024) Symptoms and Causes, Angelman Syndrome Foundation website https://www.angelman.org/what-is-as/symptoms-and-causes/

Seizures

kadiezurbo — 2024-08-30 03:22:07 UTC

Angelman syndrome can cause epileptic seizures from early childhood in 80-90% individuals

Samanta D (2021) Epilepsy in Angelman syndrome: A scoping review, PubMed, website https://pubmed.ncbi.nlm.nih.gov/32893075/

Behaviour

kadiezurbo — 2024-08-30 03:34:53 UTC

individuals with Angelman syndrome have difficulty regulating emotions, this can cause a range of emotional behavior such as easily overexcited, upset or angry.

Angelman Syndrome Foundation (2024) Symptoms and Causes, Angelman Syndrome Foundation website https://www.angelman.org/what-is-as/symptoms-and-causes/

Angelman UK (2024) Challenging behaviour, Angelman UK website https://www.angelmanuk.org/support/challenging-behaviour/

Sleep problems

kadiezurbo — 2024-08-30 03:38:55 UTC

individuals with Angelman syndrome tend to sleep less with unusual sleep cycles.

Angelman Syndrome Foundation (2024) Symptoms and Causes, Angelman Syndrome Foundation website https://www.angelman.org/what-is-as/symptoms-and-causes/

Angelman UK (2024) Sleep, Angelman UK website https://angelmanuk.org/support/sleep/

Lack of speech

kadiezurbo — 2024-08-30 03:44:13 UTC

85% of individuals with Angelman syndrome are unable to speak naturally and will often uses nonverbal methods to communicate.

Angelman Syndrome Foundation (2024) Symptoms and Causes, Angelman Syndrome Foundation website https://www.angelman.org/what-is-as/symptoms-and-causes/

Angelman UK (2024) Communication, Angelman UK website https://www.angelmanuk.org/support/communication/

Scoliosis

kadiezurbo — 2024-08-30 03:47:41 UTC

40% of adult individuals with Angelman Syndrome and 10% of children with Angelman Syndrome are diagnosed with scoliosis.

Angelman UK (2024) Scoliosis, Angelman UK website https://angelmanuk.org/support/scoliosis/

Imprinted gene

kadiezurbo — 2024-08-30 09:55:29 UTC

Imprinted gene means even if that gene is present it will not be expressed

UPD

kadiezurbo — 2024-08-30 11:13:20 UTC

Uniparental disomy happens when an offspring receives two copes of part of their chromosome from one parent

deletion

kadiezurbo — 2024-08-30 11:17:50 UTC

deletion is when a a segment or a singular codon is deleted from a gene segment, this can have no effect on the protein coded or cause a mutation to the protein altering or suppressing the protien function.