Down Syndrome Training The Center for Life Enrichment

Slides:



Advertisements
Similar presentations
Copyright © 2003 National Association for Down Syndrome
Advertisements

Down Syndrome Training The Center for Life Enrichment
Down Syndrome Your Guide To Better Understanding The Journey Of Your Consumers With Down Syndrome.
Genetic Disorders Autosomal and Sex-linked. HOW DO WE GET GENETIC DISORDERS? Nondisjunction – failure of chromosomes to separate during cell division.
Genetic Diseases.
Most mammals have one pair of sex chromosomes Males Females
ANEUPLOIDY Having too many or too few chromosomes compared to a normal genotype Aneuploid organisms have unbalanced sets of chromosomes due to an excess.
genetics. utah. edu/units/disorders/whataregd/down/index
Down syndrome.
Chromosome Mutations A large piece of a chromosome is altered during meiosis Addition of an extra chromosome Deletion of a chromosome.
By: Whinter Kent and Bobbi McKennie
Trisomy 21 Down Syndrome Marissa Lazenby Comm 1010.
DOWN SYNDROME A genetic condition in which a person has 47 chromosomes instead of the usual 46.
By Edward Pankowski And Jackson Schreyer
Down Syndrome Presented by Heather, Lynn and Mary.
Stacy Rubio, Austin Haire, Kaylee Ables
Nicolette Laird Period 3
Fragile x syndrome By Jordon Nagel.
Trisomy 21 (Down’s syndrome)
Down syndrome.
 Mistakes made during meiosis can lead to abnormal numbers of chromosomes.  This occurs when a homologous pair of chromosomes fail to separate.  These.
Numerical Chromosomal disorders
Karyotype and Chromosomal Mutation Notes
Genetic disorders C.1.m. – Describe the mode of inheritance of commonly inherited disorders.
Genetic Mutations. Mutations New inherited traits, or mutations, may appear in a strain of plant or animal. The first individual showing the new trait.
Year 10 Science Health and disease
Chromosomal Aberrations Can be caused either by –non-disjunction (failure of whole chromosomes to separate during meiosis) –translocation (bits of chromosomes.
Genetic Counseling (Down Syndrome) From: Shelby Finnie.
Picture from: By: Heather Williams.
Nicole Tuggle Russell. What is Down Syndrome? A genetic condition dealing with chromosome 21 that happens before birth Physical and mental delays, including.
Down’s Syndrome. What is Down’s Syndrome? Genetic Condition that causes delays in physical and intellectual development. Occur in 1 in 800 births 47 chromosomes.
Down Syndrome Jaclyn Hernandez, Nicole Kemper & Austin Brown.
Genetic Disorders By Rachel & MacKenzie Period: 4 Mrs. Bock By Rachel & MacKenzie Period: 4 Mrs. Bock.
4.3 Alterations In Chromosome Structure and Number
DOWN SYNDROME. Down syndrome In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible.
BY NATHANIEL GILLIG Down Syndrome.  Short neck  Misshaped ears  Heart defects  Sight and hearing problems  Hearing loss  Heart defects  Sleep problems.
DOWN SYNDROME WILL LOHR, AUSTIN WILLIAMS, BRANDON LOPEZ, PAIGE STRICKLAND.
A defect of the 21 st chromosome By: Nur Ajeerah Esah Binti Zainuddin Dietetic 3.
DOWN SYNDROME By: Trey Krueger, Ryan Kinge, Jillian Floyd, Logan Sook.
DOWN SYNDROME NUR HAMIZA RUZAINI BT HASHIM. WHAT IS DOWN SYNDROME Down syndrome is a genetic condition that causes delays in physical and intellectual.
Leah Pinckney DOWN SYNDROME.  What is Down Syndrome?  A genetic disorder caused by abnormal cell division that results in an extra chromosome.  “Trisomy.
Rabiatul Adawiah Binti Hashim Dietetics 3.
Down Syndrome Effects In some cases, certain Down syndrome effects, such as hypotonia, may be present at birth; others may not become evident until.
By:Julissa Acosta. * Down syndrome occurs when an individual has a full or partial extra copy of chromosomes. * Is also causes the child’s late development.
Chromosomal disorders
MEIOSIS.
TRISOMY 18 aka EWARD’S SYNDROM
Klinefelter syndrome 47xxy
Karyotyping Does it all add up?.
Down Syndrome By: DeAna G.
Genetic and Environmental Foundation
Chromosomal Abnormalities
Pedigrees & Karyotypes
Chromosome Abnormalities
Chromosomal Abnormalities
Down Syndrome Vanessa Tam 12A.
5. What happens if a homologous pair of chromosomes fails to separate, and how might this contribute to genetic disorders such as Down syndrome, Turner.
Genetics Unit: Module 5 Meiosis Notes
Chromosomal Abnormalities
Karyotypes and Genetic Disorders
Human Genetic Disorders
Genetic Disorders – Chromosome Disorders
Most children with Down syndrome have an extra copy of the 21st chromosome, meaning that instead of two of these chromosomes, they have three, which is.
MEIOSIS & Abnormal Meiosis
By: Monica Mendez Niah homyak
Genetic Mutations.
Presentation transcript:

Down Syndrome Training The Center for Life Enrichment Resource: www.mayoclinic.com www.youtube.com

What is Down Syndrome? Down syndrome is a genetic disorder that causes a lifelong Intellectual Disability, developmental delays and other problems Down syndrome varies in severity, so developmental problems range from moderate to serious Down syndrome is the most common genetic cause of learning disabilities in children Increased understanding of Down syndrome and early interventions make a big difference in the lives of both children and adults with Down syndrome

Causes Human cells normally contain 23 pairs of chromosomes—one chromosome in each pair comes from the father, the other from the mother Down syndrome results when one of three types of abnormal cell division involving chromosome 21 occurs All three cell division abnormalities result in extra genetic material from chromosome 21, which is responsible for the characteristic features and developmental problems of Down syndrome The three genetic variations that can cause Down syndrome include: Trisomy 21 Mosaic Down syndrome Translocation Down syndrome

Trisomy 21 More than 90 percent of the time, Down syndrome is caused by trisomy 21 A child with trisomy 21 has three copies of chromosome 21 — instead of the usual two copies — in all of his or her cells This form of Down syndrome is caused by abnormal cell division during the development of the sperm cell or the egg cell

Mosaic Down syndrome In this rare form of Down syndrome, children have some cells with an extra copy of chromosome 21 This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization

Translocation Down syndrome Down syndrome can also occur when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception Children with translocation Down syndrome have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 attached to the translocated chromosome This form of Down syndrome is uncommon

Nature vs. Nurture There are no known behavioral or environmental factors that cause Down syndrome

Is it inherited? Most of the time, Down syndrome isn't inherited. It's caused by a mistake in cell division during the development of the egg, sperm or embryo Translocation Down syndrome is the only form of the disorder that can be passed from parent to child. However, only about 4% of children with Down syndrome have translocation. And only about half of these children inherited it from one of their parents

Risk Factors Some parents have a greater risk of having a baby with Down syndrome Risk factors include: Advancing maternal age. A woman's chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. By age 35, a woman's risk of conceiving a child with Down syndrome is 1 in 400. By age 45, the risk is 1 in 35. However, most children with Down syndrome are actually born to women under age 35 because younger women have far more babies Having had one child with Down syndrome. Typically, a woman who has one child with Down syndrome has about a 1% chance of having another child with Down syndrome Being carriers of the genetic translocation for Down syndrome. Both men and women can pass the genetic translocation for Down syndrome on to their children

Common Symptoms A distinct facial appearance: Poor muscle tone Flattened facial features Small head Short neck Protruding tongue Upward slanting eyes, unusual for the child's ethnic group Unusually shaped ears Poor muscle tone Broad, short hands with a single crease in the palm Relatively short fingers Excessive flexibility

Common Symptoms Continued… Infants with Down syndrome may be of average size, but typically they grow slowly and remain shorter than other children of similar age In general, developmental milestones, such as sitting and crawling, occur at about twice the age of children without impairment Children with Down syndrome also have some degree of Intellectual Disability, most often in the mild to moderate range

Complications Children with Down syndrome can have a variety of complications, some of which become more prominent as they get older, including: Heart defects. Approximately half the children with Down syndrome are born with some type of heart defect. These heart problems can be life-threatening and may require surgery in early infancy. Leukemia. Young children with Down syndrome are more likely to develop leukemia than are other children. Infectious diseases. Because of abnormalities in their immune systems, those with Down syndrome are much more susceptible to infectious diseases, such as pneumonia

Complications Continued… Dementia. Later in life, people with Down syndrome have a greatly increased risk of dementia. Signs and symptoms of dementia often appear before age 40 in people with Down syndrome. Those who have dementia also have a higher rate of seizures Sleep apnea. Because of soft tissue and skeletal alterations that lead to the obstruction of their airways, children with Down syndrome are at greater risk of obstructive sleep apnea Obesity. People with Down syndrome have a greater tendency to be obese than does the general population Other problems. Down syndrome may also be associated with other health conditions, including gastrointestinal blockage, thyroid problems, early menopause, seizures, hearing loss, premature aging, skeletal problems and poor vision

Life Expectancy Life spans have increased dramatically for people with Down syndrome In 1929, a baby born with Down syndrome often didn't live to age 10 Today, someone with Down syndrome can expect to live to 50 and beyond, depending on the severity of his or her health problems

Early Intervention Early intervention for infants and children with Down syndrome can make a difference in realizing their potential abilities and in their quality of life Early intervention programs vary from state to state, but they usually involve therapists and special educators whose goal is to help the baby develop motor skills, language, social skills and self-help skills

“We’re More Alike than Different” In slide show mode, click the link below or copy & paste the link in your web browser to view the video https://www.youtube.com/watch?v=Jg2ZBPw2LyE