P020A Developmental Disabilities

1. P020ADevelopmental Disabilities Mrs. Elizabeth Keele, RN

2. Course Objective #23 • Identify the metabolic problem and the resulting presentation in each of the following recessive inheritance syndromes: • Phenylketonuria • Galactosemia • Tay-Sachs Disease • Hurler Syndrome • Lesch-Nyhan Syndrome • Gaucher’s disease • Neimann-Pick Disease • Wilson’s Disease • Cretinism

3. Phenylketonuria • AKA: • PKU • Gene on chromosome 12 • maybe 4 & 11 • Most common inborn error of metabolism • Incidence • 1:10,000 in USA • carrier 1:50

4. Phenylketonuria • Cannot breakdown phenylalanine  • hphenylalanine  • toxic to CNS • Screening test • Guthrie test • Screening timeline • After first 24 hrs. or before 7-14 days

5. PhenylketonuriaCommon Features • Appear • 7-10 days after birth • ID • if not treated early • Blond & fair • Musty odor • Microcephaly

6. PhenylketonuriaCommon Problems • Vomiting • Irritability • Dry skin / Rash • Seizures

7. PhenylketonuriaCommon Problems • “Maternal PKU”

8. PhenylketonuriaCommon Problems • If noncompliant with diet • lower IQ • Learning disabilities • behavior problems • Tremors • Eczema • Impaired communication

9. PhenylketonuriaCommon Treatment • TREATABLE!!!! • Low-protein /phenylalanine diet • Monitor blood phenylalanine levels • Skin care • Symptom tx

10. PhenylketonuriaCommon Treatment • Prevent maternal PKU by • adhering to diet • three months before/during pregnancy

11. Galactosemia • Chromosome 9 • Missing liver enzyme • can’t digest milk-products • Galactose • Incidence • 1:20,000-1:60,000 live births

12. Glactosemia - Pathophysiology • If an infant with galactosemia is given milk, • Galactose • Toxic levels • Damage • Liver • Brain • Kidneys • Eyes

13. GalactosemiaCommon Features • S&S appear quickly • Vomiting • Jaundice • Lethargy • Irritability • Seizures • ID is preventable • S&S may be due • E. coli.

14. GalactosemiaCommon Problems • Severe ID • Aminoaciduria • Amino acids in blood • Hepatomegaly • Enlarged liver • Ascites • Hypoglycemia

15. If not treated… • Cataracts • Cirrhosis of the liver • Death • Delayed speech • i ovarian failure • Intellectual disability • E. coli sepsis • Tremors and uncontrollable motor functions

16. GalactosemiaCommon Treatment • Galactose-free diet • life-long • Calcium supplements

17. Tay-Sach’s Disease • Chromosome 15 • Incidence: • 1:30 Jews • 1:270 general population

18. TaySach’s • Body lacks Hexosamindase A • hGanglioside • Nerve and brain cell destruction  • Deathmosis

19. Tay-Sach’sDiseaseCommon Features • Appear • about 3-6 months • Deaf & blind • i muscle tone • Irritable • Paralysis • Seizure

20. Tay-Sach’sDiseaseCommon Problems • No cure or treatment • Death by 5 yrs

21. Tay-Sach’sDiseaseCommon Treatment • Supportive care • Grief counseling

22. Hurler’s Syndrome • AKA: • Gargoylism • Hunter’s • Cannot breakdown sugar molecule • Glycosaminoglycans

23. Hurler’s SyndromeCommon Features • hMuccopolysaccharides/Glycosaminoglycans • Symptoms appear • “Normal” birth • @ 2 yrs

24. Hurler’s SyndromeCommon Features • Claw hand • i growth • Heart valve problems • Joint Disease • Thick, coarse facial features • ID - progressive

25. Hurler’s SyndromeCommon Problems • Dwarfism & kyphosis • Deaf • Corneal clouding • Cardiac • ID

26. Hurler’s Syndrome-Common Treatment • Supportive care • Prognosis • Poor

27. Lesch-Nyhan Syndrome • AKA • Hyperuricemia • Lip-Biting Syndrome • X-linked recessive • Incidence • 1:100,000 males

28. Lesch-Nyhan Syndrome • Lack enzyme needed to recycle purines  • h uric acid • S&S appear • by 3-6 months

29. Lesch-Nyhan Syndrome- Common Features • h uric acid level • Progressive ID • Compulsive, self-destructive behavior

30. Lesch-NyhanSyndromeCommon Problems • Gout • Kidney stones • Self-mutilation • Lips, mouth, tongue, fingers

31. Lesch-Nyhan Syndrome-Common Treatment • Rx to reduce uric acid • Allopurinol • Behavior modification • Hydration • Safe environment

32. Gaucher’s Disease • Incidence • 1:1,000 Jews • Chromosome 1 • Various types

33. Gaucher’s Disease-Common Features • Glucocerebroside (lipid) accumulates in visceral organs • S&S appear • Different ages

34. Gaucher’s Disease-Common Features • Progressive neurological deterioration • Affects • Liver • Spleen • Lungs • Bone marrow • Brain

35. Gaucher’s Disease-Common Problems • Progressive neurological problems • ID • Bone/joint pain • Type I fatal

36. Gaucher’s Disease-Common Treatment • Genetic counseling • Enzyme replacement therapy

37. Niemann-Pick Disease • Gene on chromosome 11 • Incidence • 1:450 Jews • 1:100,000 gen. Pop. • Can’t metabolize sphingomyelin

38. Niemann-Pick Disease -Common Features • hSphingomyelin • Lipid storage disease  • Cell death & organ failure

39. Niemann-Pick Disease -Common Problems • ID • Progressive motor skills loss • Enlarged liver/spleen  • jaundice • S&S r/t • organs affected

40. Niemann-Pick Disease -Common Treatment • Supportive & symptomatic • Genetic counseling

41. Wilson’s Disease • Gene on chromosome 13 • Can’t metabolize • copper • S&S appear • 5 -35 yrs

42. Wilson’s Disease-Common Features • h Copper • Affects • Liver • CNS • Kayser-Fleischer rings

43. Kayser-Fleischer Rings

44. Wilson’s Disease-Common Treatment • i Copper diet • water supply

45. Congenital Hypothyroidism (Cretinism) • AKA • Congenital Hypothyroidism • absence/deficiency of • thyroid hormone • Early diagnosis critical to prevent ID • Dx tests: • T3, T4, TSH

46. Congenital Hypothyroidism (Cretinism)-Common Features • Dwarfism • Large tongue, • Low metabolic rate • Intolerance to cold

47. Congenital Hypothyroidism (Cretinism)-Common Problems • ID • Poor feeding, • Constipation • Short

48. Congenital Hypothyroidism (Cretinism)-Common Treatment • Early dx • Replace • Thyroid hormone

49. Course Objective #24 • Describe features of the following multiple etiology congenital disorders: • Cornelia de Lange Syndrome • Laurence-moon syndrome

50. Cornelia de Lange Syndrome • AKA • Brachmann-de Lange • R/T chromosome 3