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Transcript: Down Syndrome Lee JiWoo What is Down Syndrome? What Developmental Delays Developmental delays Even thogh people with Down Syndrome might act and look similar, each person has different abilities Usually have an IQ in the mildly-to-moderately low range Slower to speach than other children Physical disabilities Phsical Features A flattened face, especially the bridge of the nose Almond-shaped eyes that slant up Short neck Small ears A tongue that tends to stick out of the mouth Tiny white spots on the iris (colored part) of the eye Small hands and feet A single line across the palm of the hand (palmar crease) Small pinky fingers that sometimes curve toward the thumb Physical Features Poor muscle tone or loose joints Shorter in height as children and adults Physical Features Why Why does Down Syndrom Occur? An individual has a full or partial extra copy of chromosome 21 Not caused by enviromental factors or the parents' activities before or during pregnancy Maternal age is the only facor that has been linked to an increased chance of having a baby with Down Syndrome Normal Chromosome 21 Karyotype Extra Chromosome 21 W/ Down Syndrome 2018 2019 2020 When When was Down Syndrome Discovered? John Langdon Down (1866) English physician published an accurate description of a person with Down Syndrome "father" of Down Syndrome described the condition as a distinct and separate entity Jeome Lejeune (1959) identified Down Syndrome as a chromosomal condition observed 47 chromosomes present in each cell 2000 an international team of scientists successfully identified and catalogued each of the approximately 329 genes on chromosome 21 Types Results in an embryo with three copies of chromosome 21 instead of the usual two. A pair of 21st chromosomes in either the sperm or the egg fails to separate As embryo develops, the extra chromosome is replicated in every cell of the body 95% of cases of Down Syndrome Trisomy 21 (Nondisjunction) Diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47 1% of cases of Down Syndrome (the least common form of Down Syndrome) May have fewer characteristics of Down Syndrome Mosaicism 4% of cases of Down Syndrome The total number of chromosomes in the cells remains 46; however, an additional full or partial copy of chormosome 21 attaches to another chromosome, usually chromosome 14 Translocation Who 1 3 4 Occurs in about 1 in 800 newborns About 5,300 babies with Down Symdrome are born in the United States each year Approximately 200,000 people in this country have the condition How common is Down Syndrome? Can have... Heart defects : About half the children with Down Syndrome are born with some type of congenital heart defect. These heart problems can be life-threatening and may require surgery in early infancy Gastrointestinal defects : May include abnormalities of the intestines, esophaus, trachea and anus. The risk of deeloping digestive problems, such as GI blockage, heartburn, or celiac disease, may be increased Immune disorders : Are at increased risk of developing autoimmune disorders, some forms of cancer, and infectious disease such as pneumonia Sleep apnea : Soft tissue and skeletal changes lead to the obstruction of their airways Obesity : A greater tendency to be obese compared with the general population Spinal problems : May have a misalignment of the top two vertebrae in the neck - this condition puts them at risk of serious injury to the spinal cord from overextension of the neck Leukemia Dementia : Signs and symptoms may begin around age 50. Also increases the risk of developing Alzheimer's disease People with Down Syndrome Life spans have increased drematically for people with Down Syndrome. Today, someone with Down Syndrome can expect to live more than 60 years, depending on the severity of health problems People with Down Syndrome Where Where to go for treatments Dentist : Specializes in diseases of the oral cavity, especially the teeth Pediatrician : Provides medical care for infants, children, and teenages Primary care provider (PCP) : Prevents, diagnoses, and treats diseases Pediatric cadiologist : Treats heart disorders in children Speech therapist : Specializes in voice rehabilitation Pediatric opthalmologist : Treats eye diseases in children Maternal-fetal medicine specialist : Focuses on the medical management of high-rist pregnancies Medical geneticist : Diagnoses and manages hereditary disorders Treatments Physical exercise : Aerobic activity for 20~30 minutes 5 days a week improves cardiovascular health If injured, pursuing an activity that avoids the injured muscle group or joint can help maintain physical function while recovering Special education : An approach to education that focuses on addressing the unique need of individual students Self-Care Speech therapy : Formal treatment to help with speech and swallowing provided by a trained speech therapist Support group : A forum for counseling and Q&A
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