Progeria(Andrea Herrera & Jarman Mcmillon) What Is Progeria? A rare, fatal genetic condition that gives a child the look of accelerated aging. There are different types of progeria, but the most severe type is Hutchinson-Gilford Progeria Syndrome. -This was named after the doctors who first started to describe it back in 1886 (Dr. Jonathan Hutchinson) and 1897 (Dr. Hastings Gilford).
Signs/Symptoms Of Progeria
*Babies who are born with progeria are born looking like any other healthy baby. It is around 18-24 months when start to display signs of progeria.
Some symptoms include:
slow growth
loss of body fat and hair
underdeveloped jaw
aged-looking skin
stiffness of joints
incomplete sexual maturation
swollen veins
generalized atherosclerosis
cardiovascular disease and stroke.
*The average life expectancy of a child with Progeria is around 14 years, but some children have died earlier or have even lived into their 20s.
Causes Of Progeria Progeria is caused by a gene mutation. This mutation is in the gene called LMNA. This gene produces Lamin A and C which are important in stabilizing the inner membrane of a cells nucleus. In patients with progeria, this mutation causes the LMNA gene to produce an abnormal form of the Lamin A protein. This destabilizes the cells nuclear membrane that effects and harms tissues that are used most often for intense physical force.
Treatment There is no known cure, but there are treatments for Progeria. -Back in 2012 a drug called Lonafarnib, also known as a type of farnesyltransferase inhibitor (FTI), was found to be effective for progeria.
Every child in the study showed improvements in one of four ways: 1) Gaining additional weight 2) Better hearing 3) Improved bone structure 4) Increased flexibility of blood vessels.
Aspergers Syndrome(Andrea Herrera) What is Asperger's Syndrome?
Asperger Syndrome is a neurobiological disorder on the higher-functioning end of the autism spectrum. The symptoms can range from mild to severe. The individual has serious deficiencies in social and communication skills.
Behaviors
Fidgeting
Inability to combine muscle movements
Unable to make eye contact or forcing eye contact
Social isolation
Narrowed interest
Like sticking to the same routine
Pattern recognition
Learning disability
Sensitivity to sound
Persistent repetition of words/actions
Diagnosed In order to be diagnosed they go through a two-stage process. First stage is a developmental screening. The second stage is a comprehensive team evaluation. Psychologist, neurologist, psychiatrist, and speech therapist will exam the child to determine if they have Aspergers. The individual will usually be diagnosed at a young age. *Aspergers requires a medical diagnosis and although many parents don't want a professional opinion, it is the best option to have.
Causes There is no known cause, but it is believed to run in families and passed down through genetics from a parent to the child. Although there's not a specific gene for Aspergers syndrome that has been found or identified, there are a combination of genes that may make an individual more vulnerable to developing Aspergers syndrome. - 1 out of every 110 children in the U.S. has an autism spectrum disorder which means about 2.5 out of every 1,000 child, based upon the total of number of children with autistic disorders, has Aspergers.
Treatment There is no cure for Aspergers syndrome but there are treatments to help the child such as therapy and medications. -Therapists will help the child by giving them the skills to communicate with others and using cognitive therapy. Physical therapy can be helpful if the individual has poor motor skills and Speech therapy is used to help children with conversation and communication.
Tourettes Tourettes is a syndrome that is a disorder with a onset in the childhood. It is characterized by multiple tics and at least one vocal tic. It involves unusual repetitive movements or unwanted sounds that can't be controlled. Symptoms
Facial tics such as eye blinks
Shoulder shrugging
Head and shoulder jerking
repetitive throat clearing
sniffing
grunting sounds
Complex Tics
Head twist
Shoulder Shrugging
Sniffing
Touching Objects
Hopping/Jumping
Twisting
Vocal Tics
Throat Clearing
Sniffing/Snorting
Grunting
Barking
Causes The cause is unknown, but its abnormalities in some regions of the brain, the circuits that interconnect the regions, and neurotransmitters that are responsible for communication
How is Tourettes Diagnosed
Both tics motor and vocal must be present although not necessarily at the same time
Tics occur several times a day. Nearly everyday for a year at least. There must not be a break in tics for more than a three month period
It occurs before the age of 18
Eye blinking may be initially associated with with vision problems. For example sniffling may be attributed to allergies.
Rare cases they can use MRI, CT, EEG studies, or certain blood test
Each student in the group is responsible for one of the topics below. As a group you are responsible for creating your own Wiki covering the topics assigned. You may attach files, articles, videos, pictures and/or word documents.
Websites used: http://www.progeriaresearch.org/ Mayoclinic.com Google Images
Be prepared to give your reports orally to the class using your Wiki. Included in your report should be a description of these types of disorders. (Choose three) Include what they are, how they develop, who it affects, and treatment Asperger Syndrome * Obsessive Compulsive Disorder Progeria* Tourettes Syndrome General Anxiety Disorder
What Is Progeria?
A rare, fatal genetic condition that gives a child the look of accelerated aging. There are different types of progeria, but the most severe type is Hutchinson-Gilford Progeria Syndrome.
-This was named after the doctors who first started to describe it back in 1886 (Dr. Jonathan Hutchinson) and 1897 (Dr. Hastings Gilford).
Signs/Symptoms Of Progeria
*Babies who are born with progeria are born looking like any other healthy baby. It is around 18-24 months when start to display signs of progeria.
Some symptoms include:
*The average life expectancy of a child with Progeria is around 14 years, but some children have died earlier or have even lived into their 20s.
Causes Of Progeria
Progeria is caused by a gene mutation. This mutation is in the gene called LMNA. This gene produces Lamin A and C which are important in stabilizing the inner membrane of a cells nucleus. In patients with progeria, this mutation causes the LMNA gene to produce an abnormal form of the Lamin A protein. This destabilizes the cells nuclear membrane that effects and harms tissues that are used most often for intense physical force.
Treatment
There is no known cure, but there are treatments for Progeria.
-Back in 2012 a drug called Lonafarnib, also known as a type of farnesyltransferase inhibitor (FTI), was found to be effective for progeria.
Every child in the study showed improvements in one of four ways:
1) Gaining additional weight
2) Better hearing
3) Improved bone structure
4) Increased flexibility of blood vessels.
https://vimeo.com/75526698
Aspergers Syndrome(Andrea Herrera)
What is Asperger's Syndrome?
Asperger Syndrome is a neurobiological disorder on the higher-functioning end of the autism spectrum. The symptoms can range from mild to severe. The individual has serious deficiencies in social and communication skills.
Behaviors
Diagnosed
In order to be diagnosed they go through a two-stage process. First stage is a developmental screening. The second stage is a comprehensive team evaluation. Psychologist, neurologist, psychiatrist, and speech therapist will exam the child to determine if they have Aspergers. The individual will usually be diagnosed at a young age. *Aspergers requires a medical diagnosis and although many parents don't want a professional opinion, it is the best option to have.
Causes
There is no known cause, but it is believed to run in families and passed down through genetics from a parent to the child. Although there's not a specific gene for Aspergers syndrome that has been found or identified, there are a combination of genes that may make an individual more vulnerable to developing Aspergers syndrome.
- 1 out of every 110 children in the U.S. has an autism spectrum disorder which means about 2.5 out of every 1,000 child, based upon the total of number of children with autistic disorders, has Aspergers.
Treatment
There is no cure for Aspergers syndrome but there are treatments to help the child such as therapy and medications.
-Therapists will help the child by giving them the skills to communicate with others and using cognitive therapy. Physical therapy can be helpful if the individual has poor motor skills and Speech therapy is used to help children with conversation and communication.
https://www.youtube.com/watch?v=4lKVXRVwYzw&index=14&list=PLxzCXFbagpJkj32u5LhuFttLvWwEyBz3S
Tourettes
Tourettes is a syndrome that is a disorder with a onset in the childhood. It is characterized by multiple tics and at least one vocal tic. It involves unusual repetitive movements or unwanted sounds that can't be controlled.
Symptoms
- Facial tics such as eye blinks
- Shoulder shrugging
- Head and shoulder jerking
- repetitive throat clearing
- sniffing
- grunting sounds
Complex Tics- Head twist
- Shoulder Shrugging
- Sniffing
- Touching Objects
- Hopping/Jumping
- Twisting
Vocal TicsCauses
The cause is unknown, but its abnormalities in some regions of the brain, the circuits that interconnect the regions, and neurotransmitters that are responsible for communication
How is Tourettes Diagnosed
Tourettes
Websites used:
http://www.progeriaresearch.org/about_progeria/
http://www.genome.gov/11007255
http://www.progeriaresearch.org/first-ever-progeria-treatment.html
http://www.autismspeaks.org/what-autism/asperger-syndrome
http://www.ninds.nih.gov/disorders/asperger/detail_asperger.htm#246943080
http://www.ninds.nih.gov/disorders/tourette/detail_tourette.htm#220463231
http://www.mayoclinic.org/diseases-conditions/tourette-syndrome/basics/tests-diagnosis/CON-20043570
HEARING WORLD/ READ MY LIPS/ ZELLNER SAVE
INSTRUCTIONS
Each student in the group is responsible for one of the topics below. As a group you are responsible for creating your own Wiki covering the topics assigned. You may attach files, articles, videos, pictures and/or word documents.
Websites used: http://www.progeriaresearch.org/ Mayoclinic.com Google Images
Be prepared to give your reports orally to the class using your Wiki. Included in your report should be a description of these types of disorders.
(Choose three) Include what they are, how they develop, who it affects, and treatment
Asperger Syndrome *
Obsessive Compulsive Disorder
Progeria*
Tourettes Syndrome
General Anxiety Disorder
Resourses www.EverydayHealth.com www.Web.Md http://www.progeriaresearch.org
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