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P020A Developmental Disabilities Lecture #3

P020A Developmental Disabilities Lecture #3. Mrs. keele. Course Content # 17. Explain the important role of genetic counseling. Genetic Counseling. Issues related to inherited disorders. Prenatal testing. Ultrasound sonography Sound waves  images Detect structural abnormalities.

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P020A Developmental Disabilities Lecture #3

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  1. P020A Developmental DisabilitiesLecture #3 Mrs. keele

  2. Course Content # 17 • Explain the important role of genetic counseling.

  3. Genetic Counseling • Issues related to inherited disorders

  4. Prenatal testing • Ultrasound sonography • Sound waves  images • Detect structural abnormalities

  5. Prenatal Testing • Amniocentesis • amniotic fluid + fetal cells

  6. Prenatal testing • Fetal Blood Sampling (FBS) • Detect chromosomal abnormalities

  7. Screening for future problems • DNA – based genetic tests

  8. Angelina Jolie fallout: Should counseling be required with DNA screenings?Jon Entine | May 28, 2013 | Genetic Literacy Project • The decision by Angelina Jolie to undergo a double mastectomy after tests determined she carried a genetic mutation that elevated her chances of developing breast or ovarian cancer has led to renewed calls for expanded genetic screening. It has also raised a disconcerting question—could genetic testing actually be harmful to your health?

  9. Some DNA-based genetic tests • Adult polycystic kidney disease • Alpha 1-antitrypsin deficiency • Alzheimer’s disease • Amyotrophic lateral sclerosis • Ataxic telangiectasia • Breast & ovarian cancer • Charcot-Marie-Tooth • Congenital adrenal hyperplasia • Cystic fibrosis • Duchenne muscular dystrophy

  10. Some DNA-based genetic tests • Dystonia • Fragile X syndrome • Gaucher disease • Hemophilia • Colon Cancer • Huntington’s disease • Myotonic dystrophy • Neurofibromatosis • Phenylketonuria • PraderWilli / Angleman syndromes • Sickel-cell disease • Spinocerebellar ataxia • Tay-Sachs disease • Thalassemias

  11. Course content #18 • Identify the various morphological features commonly seen in the D.D. client • Head & face • Eyes • Extremities

  12. Head Circumference

  13. Microcephaly • i head circumference

  14. Unusual hair whorls

  15. Normal ear

  16. Microtia • Underdeveloped pinna

  17. Microtia

  18. Microtia

  19. Hypoplastic ear

  20. Low set ear • Low set ear • hypoplastic

  21. Ear Placement Low set ears Posteriorly rotated

  22. Micrognathia • Small jaw

  23. Micrognathia • Small lower jaw

  24. Prognathia • Maxilla or mandible is forward of the skull

  25. Hydrocephaly • AKA • Water on the brain” • D/t • h CSF  • h I-ICP  …

  26. Scaphocephaly • Long, narrow head

  27. Eyes • Edema

  28. Dysconjugate eye movement • Eyes appear to move independently

  29. Epicanthal folds • Epicanthal fold extending above the inner canthus

  30. Ptosis • Dropping eye lid

  31. Anisocoria • Unequal pupil size

  32. Exophthalmos • Bulging eyes • D/T • edema

  33. Strabismus /heterotropia • AKA • Cross-eyes • Eyes are not aligned

  34. Setting sun

  35. Nystagmus • AKA • “Dancing eye’s” • http://upload.wikimedia.org/wikipedia/commons/b/b6/Optokinetic_nystagmus.gif

  36. Ocular Hypertelorism • h distance between the eyes

  37. Palpebral slant mongoloid slant

  38. Normal hand Crease

  39. Transverse Palmar Crease • Old term • “Simian crease”

  40. Edema of the Feet

  41. Edema of the Feet

  42. Sandal Gap Deformity • Increase gap between great and 1st toe

  43. Sandal Gap Deformity

  44. Syndactyly • Two or more digits are fused together

  45. Pesplanus • AKA • “Flat foot”

  46. Talipesequinus • AKA • Club foot

  47. Pectusexcavatum • AKA • Funnel chest

  48. Hypotonia

  49. Hypotonia

  50. What is this? • Sydactyly • Hypotonia

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