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P020A Developmental Disabilities Mrs. Elizabeth Keele, RN.

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Presentation on theme: "P020A Developmental Disabilities Mrs. Elizabeth Keele, RN."— Presentation transcript:

1 P020A Developmental 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 – Gauchers disease – Neimann-Pick Disease – Wilsons 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 – phenylalanine – toxic to CNS Screening test – Guthrie test Screening timeline – After first 24 hrs. or before 7-14 days

5 Phenylketonuria Common Features Appear – 7-10 days after birth ID – if not treated early Blond & fair Musty odor Microcephaly

6 Phenylketonuria Common Problems Vomiting Irritability Dry skin / Rash Seizures

7 Phenylketonuria Common Problems Maternal PKU

8 Phenylketonuria Common Problems If noncompliant with diet – lower IQ – Learning disabilities – behavior problems – Tremors – Eczema – Impaired communication

9 Phenylketonuria Common Treatment TREATABLE!!!! Low-protein /phenylalanine diet Monitor blood phenylalanine levels Skin care Symptom tx

10 Phenylketonuria Common Treatment Prevent maternal PKU by – adhering to diet – three months before/during pregnancy

11 Galactosemia Chromosome 9 Missing liver enzyme – cant 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 Galactosemia C ommon Features S&S appear quickly – Vomiting – Jaundice – Lethargy – Irritability – Seizures ID is preventable S&S may be due – E. coli.

14 Galactosemia Common 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 ovarian failure Intellectual disability E. coli sepsis Tremors and uncontrollable motor functions

16 Galactosemia Common Treatment Galactose-free diet – life-long Calcium supplements

17 Tay-Sachs Disease Chromosome 15 Incidence: – 1:30 Jews – 1:270 general population

18 Tay Sachs Body lacks Hexosamindase A Ganglioside Nerve and brain cell destruction Deathmosis

19 Tay-Sachs Disease Common Features Appear – about 3-6 months Deaf & blind muscle tone Irritable Paralysis Seizure

20 Tay-Sachs Disease Common Problems No cure or treatment Death by 5 yrs

21 Tay-Sachs Disease Common Treatment Supportive care Grief counseling

22 Hurlers Syndrome AKA: – Gargoylism – Hunters Cannot breakdown sugar molecule – Glycosaminoglycans

23 Hurlers Syndrome Common Features – Muccopolysaccharides /Glycosaminoglycans – Symptoms appear Normal 2 yrs

24 Hurlers Syndrome Common Features Claw hand growth Heart valve problems Joint Disease Thick, coarse facial features ID - progressive

25 Hurlers Syndrome Common Problems Dwarfism & kyphosis Deaf Corneal clouding Cardiac ID

26 Hurlers 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 uric acid S&S appear – by 3-6 months

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

30 Lesch-Nyhan Syndrome Common 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 Gauchers Disease Incidence – 1:1,000 Jews Chromosome 1 Various types

33 Gauchers Disease- Common Features Glucocerebroside (lipid) accumulates in visceral organs S&S appear – Different ages

34 Gauchers Disease- Common Features Progressive neurological deterioration Affects – Liver – Spleen – Lungs – Bone marrow – Brain

35 Gauchers Disease-Common Problems Progressive neurological problems ID Bone/joint pain Type I fatal

36 Gauchers 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. Cant metabolize sphingomyelin

38 Niemann-Pick Disease -Common Features Sphingomyelin 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 Wilsons Disease Gene on chromosome 13 Cant metabolize – copper S&S appear – yrs

42 Wilsons Disease-Common Features Copper Affects – Liver – CNS – Kayser-Fleischer rings

43 Kayser-Fleischer Rings

44 Wilsons Disease-Common Treatment 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

51 Cornelia de Lange Syndrome-Common Features Microcephaly Hirsutism Low birth weight – failure to thrive Short stature ID – – Severe Clinodactyly, Syndactyly Cleft palate

52 Cornelia de Lange Syndrome-Common Problems ID Self-mutilation Behavior problems Seizures Cleft palate Hearing loss & speech delay

53 Cornelia de Lange Syndrome-Common Treatment GH Communication aides Special education Behavior modification

54 Laurence-Moon Syndrome Genes on chromosomes – 11, 13, 15, 16 Incidence – :13,500 Arabs in Kuwait – 1:160,000 gen. pop

55 Laurence-Moon Syndrome Common Features Gen. obesity Dwarfism Skeletal defects Progressive vision problems Hypogenitalism

56 Laurence-Moon Syndrome-Common Problems ID Blindness Kidney & cardiac disorders Speech problems Syndactyly Polydactyly

57 Laurence-Moon Syndrome-Common Treatment Diet Visual aides SLP Kidney care Surgery – to remove extra digits

58 Course Objective #25 Differentiate between microcephaly and macrocephaly

59 Microcephaly Causes

60 Microcephaly-Common Features Small head

61 Microcephaly-Common Problems ID Strabismus Hypertonia Seizures Behavior problems

62 Microcephaly-Common Treatment Early intervention Anticonvulsant medication

63 Shunt

64 Megaloencephaly 1o – no underlying disease 2o – D/T metabolic D/O ID – May be normal, MR or >IQ

65 Megaloencephaly-Common Features brain weight – > 1600 g Normal – g Deformed skull

66 Megaloencephaly-Common Problems ID / DD Seizures Neuro deficits

67 Megaloencephaly-Common Treatment Symptomatic treatment

68 Course Objectives #27 Explain the difference between cultural-familial retardation and psychosocial disadvantage

69 Cultural-Familial Retardation ID – Mild No – Physical disability D/T – Environmental causes Poor prenatal care Nutrition Disease Toxins

70 Psychosocial ID D/T – psychosocial factors – No organic cause Not reversible Abuse family Neglect family

71 Course #28 Explain what is meant by a neural tube defect and describe the difference between the various forms of this type of disorder.

72 Spinal Bifida Pathophysiology Congenital Neural Tube defect Incomplete closure of the vertebrae 3 Levels – Spina Bifida Occulta – Meningocele – Myelomeningocele

73 Spina bifida occulta Bones of the spine do not close But the spinal cord and meninges remain in place And skin usually covers the defect

74 Meningocele Meninges protrude from the spinal canal But the spinal cord remains in place

75 Myelomeningocele Both the spinal cord and the meninges protrude from the spinal canal Co-morbidity – Hydrocephalus

76 Spinal Bifida Myelomeningocele must have a repair of the open neural tube. Failure to repair may result in serious infection which would harm the developing infant brain. After the repair, many children require the insertion of a device called a shunt to divert the cerebral spinal fluid to treat the hydrocephalus. The Infant with Myelomeningocele

77 Spinal Bifida Etiology Idopathic Folic acid deficiency during pregnancy – Esp 1 st month

78 Spinal Bifida Diagnosis Ultrasound Alpha fetoprotein

79 Spinal Bifida What food contain folic Acid? – Greens – Asparagus – Broccoli – Cauliflower – Corn – Green Beans or Peas – Sweet Potato – Cabbage or Coleslaw – Black Beans – Lentils – Peas – Peanuts

80 Course Content #29 Identify non-genetic biological causes of development disabilities factors that are required – Prenatally – Perinatally – Postnatally

81 Prenatal Toxic substances Infection

82 Perinatal Premature Birth injuries – Deprived of O2 – Forceps – Nuchal chord

83 Postnatal Brain damage: – Infections Encephalitis Meningitis – vaccinations mosquitoes Lead poisoning – TBI

84 Prenatal – Toxic substances (drugs, alcohol) – Infection Perinatal – Delivery complications Postnatal – Head Injury – Infection


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