By: Paul Meyer. Syndromes Names/ Fact FMR1 FXS Fragile X Fragile X syndrome is the most common inherited cause of mental impairment. The syndrome occurs.

Slides:



Advertisements
Similar presentations
AUTISM AWARENESS DID YOU KNOW?.
Advertisements

Intelletual Disability James River Special Education.
By: Liz Fleischer Period 3
Cri du Chat By: Taylor Palacino.
Cri-Du-Chat Syndrome “Cry Of The Cat”.
Cri Du Chat Syndrome Lindsey Kim.
Fragile X Syndrome.
Fragile X syndrome By: Dustin King. Who gets it? There is no specific group who can get the syndrome, but it is often more severe in males than in females.
By Jordan Ordaz. Symptoms of fragile X  Disabilities to mental retardation  Attention deficit disorder, hyperactivity  Autistic behaviors  Unstable.
Cri du Chat Syndrome Also known as: Cat’s Cry Syndrome & 5p- Syndrome By Molly and Becky.
AutismAutism by: Amal Samir El-Refaey Mariam Medhat faculty of science.
FRAGILE X SYNDROME Pictures: (left) female; age 26, (right) male; age 2.
Syndromes and Birth Defects
Autism Autism is a lifelong complex neurobiological disorder Most severe childhood psychiatric condition First identified in 1943 by Dr. Leo Kanner Dr.
Autism Spectrum Disorder (ASD) Rhonda Landwehr PESS 369-Adapted Aquatics 6/20/2006.
Causes, diagnosis, characteristics and interventions Karen Stewart EMR 6052 University of South Florida, St. Petersburg.
Fragile x syndrome By Jordon Nagel.
Shelby Herstine, Fillie Landi, Mike LeBus
Fragile X Syndrome A Genetic Malady. Causes Mutations in the FMR1 gene FMR1 causes the production of a protein called fragile X Used to create synapses.
FRAGILE X SYNDROME. WHAT IS FRAGILE X SYNDROME? The karyotype occurs in the X chromosome. People with fragile X syndrome have a “broken” X chromosome.
Human Genetic disorders
Fragile X Syndrome/ Martin-Bell Syndrome
Fragile X Syndrome Priya Sankaran.
Genetic Disorders A Collage of Multiple Syndromes.
Autosomal and Sex chromosome abnormalities
Ashley Osborne Quesha McClanahan Orchi Haghighi
Copyright © 2011, 2007, 2003, 1999 by Mosby, Inc., an affiliate of Elsevier Inc. Chapter 45 Developmental Disabilities.
CRI DU CHAT SYNDROME by: Olivia Gerald 12|o9|2011 Mrs. Abrams
Syndrome Marfan Mac Simonson and Thomas Evans
Autism Overview What is Autism? Is there more than one type of Autism? How is Autism diagnosed? What are the characteristics of Autism?
Developmental Disorders Chapter 13. Pervasive Developmental Disorders: An Overview Nature of Pervasive Developmental Disorders Problems occur in language,
Pervasive Developmental Disorders. DSM-IV Criteria for Autistic Disorder A. Qualitative Impairment in social interaction B. Qualitative Impairment in.
By Mitch & Russell. How Does a person inherit it? Is it dominant or recessive?  This disease can be passed down from parent to child. It is autosomal.
Fragile X Brianna Stobbe 3/6/13 Period 4. Common and scientific name: fragile X syndrome (FXS) Other names: Martin-Bell syndrome,Marker X syndrome, FRAXA.
Stash Fera Mutations Technical Biology Mr. Bouchette
AUTISTIC DISORDER Devonta Price Mrs. Marsh Psychology Period 6.
By Abhi Gollapudi and Matt Pruss
Julia Brown 3/6/13 3rd Period. Other Common Names: FXS Martin-Bell Syndrome Escalante’s Syndrome.
It’s a symptom, not a disease
Fragile X Syndrome.
Fragile X Syndrome Sanjay Dick Developmental Biology 551 Eastern Mennonite University Fall 2015.
Fetal Alcohol Effects.
Angelman Syndrome                                                                                                                   Kelly Feite November.
Autism What is Autism? Autism is best described as a disease that affects the development of a child, autism has to be present before the age of four and.
Chapter 40 Developmental Disabilities All items and derived items © 2015, 2011 by Mosby, Inc., an imprint of Elsevier Inc. All rights reserved.
FRAGILE X SYNDROME (FXS)
BY: EMILY KARSTEN Cleft Palate X-Linked. Alternative Names Other names for the Cleft Palate X-Linked are: Van Der Woude Syndrome Pierre Robin Syndrome.
 Autism is a disorder affecting children’s ability to communicate. Autism makes it hard on Children to do many things that come easy to an unaffected.
Fragile X Syndrome Martin-Bell Syndrome Dustin James II.
Cri Du Chat Other Names ~Chromosome 5p deletion syndrome ~5p minus syndrome ~Cat cry syndrome.
Autism Monroe’s Motivational Speech Chris Cannizzaro.
Chromosomal aberrations Sometimes entire chromosomes can be added or deleted, resulting in a genetic disorder such as Trisomy 21 (Down syndrome). These.
Mackenzie Walsh.  Dr. Harry Angelman noticed a condition in 3 children  He was a British pediatrician  Early 1980s- more cases were reported.
A defect of the 21 st chromosome By: Nur Ajeerah Esah Binti Zainuddin Dietetic 3.
Fragile X Syndrome (FXS)
AUTISM SPECTRUM DISORDER In Children ages 5-10 Symptoms and how it affects learning, family, and personal relationships.
What it is. Down Syndrome is a congenital disorder in which the genetic material causes an abnormal development of children and often leads to mental.
SYMPTOMS Fragile X Chromosome WHAT IS THE FRAGILE X SYNDROME?
EXIT 303: AUTISM Paul and Erin. (Just Call Us Perin)
Child Psychopathology
Presentation on Fragile X syndrome
Facial Dysmorphism with Precordial Systolic Murmur of a Young Boy
Cri Du Chat Syndrome Lindsey Kim.
Down Syndrome Vanessa Tam 12A.
Karyotypes and Genetic Disorders
FRAGILE X SYNDROME (FXS)
By Emma Serikaku & Katie Stearney 2nd Period
Presentation transcript:

By: Paul Meyer

Syndromes Names/ Fact FMR1 FXS Fragile X Fragile X syndrome is the most common inherited cause of mental impairment. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females.

Most likely to get Males are most likely to get Fragile x by about half. White Americans are most likely.

Location It is Located in X chromosomes. They look like door knobs on the bottom of the x Chromosome. Fragile X

Symptoms Mental retardation Enlarged testes High forehead Enlarged jaw Long ears Hand flapping Hand biting Poor eye contact Cluttered speech Repetitive speech Lack of speech Attention problems Hyperactivity Autism Educational difficulties Enlarged head #in early childhood Projecting jaw Thick nasal bridge Large ears Soft ear cartilage Pale blue irides Epicanthal folds Dental crowding Emotional instability Long face Prominent ears Large testes Prognathism Large head circumference Hyperextensible finger joint Mitral valve prolapse Aortic dilatation Funnel chest High-arched palate Nearsightednes Flat feet Abnormal Dermatoglyphics Testicular edema Ovarian cysts Behavior problems Developmental retardation Long face

Deadly? And Life Span No. Fragile X Syndrome is not deadly. People with FXS live a normal life span. There is currently no cure for fragile X, There close. Currently there is no definitive, single treatment for Fragile X. However, there are a variety of ways to help minimize the symptoms of the condition. Children with Fragile X who receive appropriate education, behavioral or physical therapy, and medication have the best chance of using their individual capabilities and skills. Even those with significant mental retardation can learn to master many self-help skills.

Diagnosis Fragile X can be diagnosed at any time, at 1 month, 2 years, 10 years, 40 years or 70 years. It can be diagnosed prior to birth through amnio or cvs. When testing for fragile x it is important that the correct test is ordered, the FMR1 DNA test (Southern Blot with PCR analysis). Chromosome analysis should not be used for Fragile X testing, it has proven unreliable, too many false negatives.

Support Groups Is a support Group who based there whole site on this dieses. And who collects money from the members and gives it to the families and the research centers. Call Fax

Bibliography ain.html ain.html yndrome/symptoms.htm?ktrack=kcplink yndrome/symptoms.htm?ktrack=kcplink ragileX/sub13.cfm ragileX/sub13.cfm rome_deadly#ixzz1DgVn3Tzf rome_deadly#ixzz1DgVn3Tzf