https://padlet.com/adapoang/53z0zfvjohcq Genetic Disorders Homework Task Year 10 Science 2019 en-us 2019-02-20 00:50:18 UTC 2024-11-13 10:52:54 UTC hello@padlet.com https://padlet-assets.s3.amazonaws.com/icons/File.png adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/334758124 Angelman syndrome is a rare, complex genetic disorder. It has a greater effect on the nervous system, causing developmental regression, neurological problems and occasionally seizures.]]> 2019-02-25 09:48:53 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/334758124 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/334759862 Children who suffer from Angelman syndrome typically have a happy, exciteable personality, usually including frequent laughter, hand-flapping movements and smiling.
Older people with Angelman syndrome are less excitable, have distinctive facial features, scoliosis, and commonly have unusually fair skin and light-coloured hair.]]> 2019-02-25 09:54:45 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/334759862 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/334763788 Angelman syndrome affects an estimated 1 in 12 000 - 20 000 individuals. People with Angelman syndrome generally live a normal life span, however, the disease cannot be cured.]]> 2019-02-25 10:09:03 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/334763788 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335245936 characteristic features include severe speech impairment, developmental regression, intellectual disabilities and ataxia.]]> 2019-02-26 08:11:33 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335245936 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335246757 - delayed development
- (severe) speech impairment
- ataxia
- microcephaly]]> 2019-02-26 08:14:56 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335246757 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335247375 Children often suffer from epilepsy, microcephaly as well as delayed developments. They are commonly hyperactive with a short attention span and a fascination with water. 
The majority of affected children suffer from sleeping difficulties but need less than sleep than usual.]]> 2019-02-26 08:17:10 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335247375 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335248303 As affected individuals age, they become less excitable and have reduced sleeping troubles. however, intellectual disabilities, speech impairments and ataxia are still present.]]> 2019-02-26 08:20:14 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335248303 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335252630 Most cases of Angelman syndrome are not inherited, affected individuals typically have no ancestral history of the disease disorder.
Occasionally, Angelman syndrome may be inherited from a parent through defective genes. Having family history of the disease can increase the chances of developing Angelman syndrome. ]]> 2019-02-26 08:37:31 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335252630 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335271013 Many of the characteristic features of Angelman syndrome are a result of loss of function of a gene called UBE3A.
Ubiquitin-protein ligase E3A (UBE3A) is an enzyme in humans encoded by the UBE3A gene. This particular enzyme's function is targeting proteins for degradation within cells.
If the maternal copy of the UBE3A gene is lost due to a gene mutation or a chromosomal change, the offspring will not have any active copies of the UBE3A gene in some regions of the brain.]]> 2019-02-26 09:44:49 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335271013 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335273350 About 70% of Angelman syndrome cases occur when a segment of the maternal chromosome 15 containing the UBE3A gene is deleted.]]> 2019-02-26 09:52:15 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335273350 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335273604 About 11% of Angelman syndrome cases are cause from a mutation in the maternal copy of the UBE3Agene.]]> 2019-02-26 09:53:11 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335273604 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335274236 In a smaller percentage of Angelman syndrome cases, the condition can be a result of inheriting two parental/maternal copies of chromosome 15 rather than one from each parent. This genetic phenomenon is known as Uniparental Disomy.]]> 2019-02-26 09:55:33 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335274236 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335278817 In a rare occurrence, Angelman syndrome can be caused by translocation, or my mutation or defect of the UBE3A gene]]> 2019-02-26 10:10:30 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335278817 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335281280 the cause of Angelman syndrome are unknown for 10-15% of affected individuals]]> 2019-02-26 10:20:14 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335281280 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335281673 There is no specific treatment for Angelman syndrome and no cure to repair lost chromosomes. The treatment of Angelman syndrome mainly focuses on managing developmental and medical issues. ]]> 2019-02-26 10:21:56 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335281673 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335283123 Typically therapy is needed, regarding the individuals development. Each necessary for affected individuals to reach their full developmental potential.
This includes...
- physical therapy
- occupational therapy
- communication therapy
- behavioural therapy]]> 2019-02-26 10:26:53 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335283123 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335285251 Individuals with Angelman syndrome tend to have a normal life. however, early diagnosis and specific therapies help imrpove the individuals quality of life. ]]> 2019-02-26 10:34:46 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335285251 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335286173 Adults with Angelman syndrome have distinctive facial features that may be described as "coarse", which means not elegantly formed or proportional.]]> 2019-02-26 10:38:19 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335286173 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335287886 The loss of gene OCA2 is associated with light-coloured hair and fair skin. The OCA2 gene is located on the segment of chromosome 15 that is often deleted in people with this condition.]]> 2019-02-26 10:45:02 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335287886 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335294909 If you're concerned about future pregnancies or a family history of Angelman syndrome, consult your doctor or genetic counsellor for assistance with future family planning.]]> 2019-02-26 11:12:21 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335294909 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335295999 Angelman syndrome is named after Harry Angelman, a physician, who first identified it in 1965.]]> 2019-02-26 11:16:50 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335295999 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335298334 Difficulty coordinating sucking and swallowing ]]> 2019-02-26 11:25:48 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335298334 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335299674 Often decreases with age, medication usually isn't necessary]]> 2019-02-26 11:31:19 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335299674 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335299778 Abnormal sleep-wake patterns]]> 2019-02-26 11:31:44 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335299778 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335299996 Abnormal side to side curving of the spine]]> 2019-02-26 11:32:36 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335299996 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335300070 Older children typically have large appetites, possibly leading to obesity.]]> 2019-02-26 11:32:54 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335300070 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335300292 2019-02-26 11:33:50 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335300292 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335700997 2019-02-27 00:49:40 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335700997 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335701620 2019-02-27 00:52:57 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335701620 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335701861 2019-02-27 00:54:20 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335701861 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335702700 Individuals undergo frequent seizures that are unprovoked.]]> 2019-02-27 00:58:38 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335702700 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335703095 2019-02-27 01:00:20 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335703095 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335703178 2019-02-27 01:00:40 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335703178 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335703381 2019-02-27 01:01:23 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335703381 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335703514 2019-02-27 01:01:48 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335703514 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/335703606 2019-02-27 01:02:13 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/335703606 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/336295579 2019-02-28 08:31:48 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/336295579 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/336297029 “Angelman Syndrome - Genetics Home Reference - NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/angelman-syndrome#genes]]> 2019-02-28 08:38:34 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/336297029 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/336297119
“Angelman Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 2 Mar. 2018, www.mayoclinic.org/diseases-conditions/angelman-syndrome/symptoms-causes/syc-20355621]]> 2019-02-28 08:39:03 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/336297119 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/336297210
“Angelman Syndrome: Read About Symptoms, Causes and Treatment.” MedicineNet, www.medicinenet.com/angelman_syndrome/article.htm]]> 2019-02-28 08:39:22 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/336297210 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/336313028 2019-02-28 09:43:14 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/336313028 adapoang https://padlet.com/adapoang/53z0zfvjohcq/wish/336313309 2019-02-28 09:44:20 UTC https://padlet.com/adapoang/53z0zfvjohcq/wish/336313309