down syndrome.ppt
TRANSCRIPT
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DOWN SYNDROME
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21 Trisomy (Down Syndrome; Mangolism)
Extra 21 chromosome
Incidence – 1-800 live births (because of nondisjunction)
Increasing maternal age >30 yrs aging of oocyte.
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Clinical Features
General Mental retardation; HypotoniaCranio-facies Flat occiput; Oblique palpebral fissures; Epicanthic folds; Speckled irides (Brushfield spots); Protruding tongue; Prominent malformed ears; Flat nasal bridge
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Thorax Congenital heart disease, mainly
septal defect, especially of the endocardial cushion
Abdomen and pelvis Decreased acetabular and iliac
angles; Small penis; Cryptorchidism
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Hands and feet Simian crease; Short, broad hands; Hypoplasia of middle phalanx of
5th finger; Gap between 1st and 2nd toes
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Other features observed with significant frequency
High-arched palate; Strabismus; Broad, short neck; Small teeth; Furrowed tongue; Intestinal atresia; Imperforate anus; Hirschsprung disease
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Grading of IQ
140 + Genius 120 – 140 Very superior 110 – 120 Superior 90 – 110 Normal 80 – 90 Dullard 70 – 80 Backward 50 – 70 Moran 25 – 50 Imbecile < 25 Idiot
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BIOCHEMISTRYSECOND TRIMESTER (15-20 WKS) Alpha-fetoprotein (AFP) Human Chorionic Gonadotropin
(HCG) Estriol Inhibin A
FIRST TRIMESTER (9-14 WKS) Free beta HCG PAPP-A (Pregnancy Associated
Plasma Protein-A)
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Diagnostic Tests During Pregnancy Genetic Amniocentesis Chorionic Villus Sampling (CVS) Percutaneous Umbilical Blood
Sampling (PUBS)
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ManagementInfant stimulation programmes Multisensory stimulation –
cognition, emotion, physical Self-care activities Social skills Recreational activities Family therapy Future pregnancy risk Institutional care Parents organizations’ Benefits of yoga practice
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