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Down Syndrome

Down Syndrome . Mykayla mauldin Sped 604 Summer 2013. What is Down Syndrome?. Genetic Disorder Causing lifelong delays, varying in severity M ost commonly occurring chromosomal condition

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Down Syndrome

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  1. Down Syndrome Mykaylamauldin Sped 604 Summer 2013

  2. What is Down Syndrome? • Genetic Disorder • Causing lifelong delays, varying in severity • Most commonly occurring chromosomal condition • “Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.” • Alters Course of Development in individuals • Learning • Daily Functioning • Medical Conditions http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/#sthash.wv19ZSi7.dpuf

  3. Signs and Symptoms • Distinct Facial Features • Flattened facial features • Small head • Short neck • Protruding tongue • Upward slanting eyes • Unusual shaped ears • Possible Body Features • Poor muscle tone • Broad, short hands • Short fingers • Excessive flexibility • Mental Retardation • Delayed developmental milestones • Mild to moderate mental retardation

  4. Causes • Abnormal cell division during development of egg, sperm, embryo • Involving chromosome 21 • Results in extra genetic material • Cause is Unknown • Research suggests incidence increases as mother ages • 5% has been traced to the father • No scientific research proves environmental factors or parent activities prior to birth

  5. Three Different Types of Down Syndrome • Trisomy 21 (nondisjunction) • Pair of 21st chromosomes in either sperm or egg fails to separate. • Replicated in every cell of body. • Accounts for 95% of individuals with Down Syndrome • Mosaicism • Takes place in one (not all) of initial cell divisions after fertilization • Accounts for 1% of individuals with Down Synrdome • Translocation • Part of chromosome 21 breaks off during cell division and attaches to another chromosome • Accounts for 4% of individuals with Down Syndrome

  6. Typical vs. Atypical Cell Division Typical Cell Division Trisomy 21 (Nondisjunction) http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/

  7. Impact on Individual Learning • Developmental Delays • Mild to moderate mental impairments • Learning disabilities • Physical Delays • Due to small muscle tone • Speech Delays • Due to protruding tongue • Varies • Each individual with Down syndrome varies with delays and symptoms • Talents & Specialties • Each individual has their own talents and is able to succeed in school and adulthood. Several individuals with Down syndrome has accomplished secondary school and maintained employment.

  8. Impact on Individual Life Functioning • Health Issues • 40% have congenital heart defects • Higher incidence of infection, respiratory, vision, and hearing complications • Life expectancy is approximately 55 • Continually increasing with knowledge • Appropriate Care Needed • Can lead to healthy lives

  9. Accommodations in Home • Seek local support • New parent support, family meetings, sibling and grandparent support, recreational activities, conferences, partnerships • Early intervention • Services to provide a program of therapy, exercises, and activities to address developmental delays • Most participate in physical therapy, speech and language therapy, and occupational therapy • Stimulating environment • Appropriate materials (toys, games, music, books) • Positive interactions

  10. Accommodations in Class • Careful considerations, supports, and early planning • Continued therapies • Individualized Education Plan with teacher, parents, and therapists support • Least Restrictive Environment • General classroom versus special education classroom • Full time versus part time inclusion • Positive environment • Stimulation

  11. Additional Information To find more information about Down Syndrome: Mayo Clinic National Association for Down Syndrome National Down Syndrome Society

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