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P020A Developmental Disabilities Lecture #3 Mrs. keele.

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Presentation on theme: "P020A Developmental Disabilities Lecture #3 Mrs. keele."— Presentation transcript:

1 P020A Developmental Disabilities Lecture #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 questioncould genetic testing actually be harmful to your health?

9 Some DNA-based genetic tests Adult polycystic kidney disease Alpha 1-antitrypsin deficiency Alzheimers 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 Huntingtons disease Myotonic dystrophy Neurofibromatosis Phenylketonuria Prader Willi / 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 head circumference

14 Unusual hair whorls

15 Normal ear

16 Microtia Underdeveloped pinna

17 Microtia


19 Hypoplastic ear

20 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 – CSF – 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 eyes http://upload.wikimedi ns/b/b6/Optokinetic_ny stagmus.gif http://upload.wikimedi ns/b/b6/Optokinetic_ny stagmus.gif

36 Ocular Hypertelorism 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


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

43 Sandal Gap Deformity

44 Syndactyly Two or more digits are fused together

45 Pes planus AKA – Flat foot

46 Talipes equinus AKA – Club foot

47 Pectus excavatum AKA – Funnel chest

48 Hypotonia


50 What is this? A.Sydactyly B.Hypotonia

51 Course Content #19 Differentiate between the following types of abnormal cell divisions – Non-disjunctive – Crossing over – Translocation

52 Abnormal cell division Non-disjunctive – Failure of the chromosome to separate properly ntent/animations/content/mistakesm eiosis/mistakesmeiosis.swf ntent/animations/content/mistakesm eiosis/mistakesmeiosis.swf

53 Crossing-over Not an abnormal cell division Occurs only in – Meiosis Allows for – Diversity

54 Abnormal cell division Translocation – During crossing-over part of the chromosome breaks off and attached to another chromosome

55 Abnormal cell division Most incompatible with life – Spontaneous abortion

56 Course Content #20 Describe the main features seen in the following autosomal disorders: – Downs Syndrome – Edwards Syndrome (Trisomy 18) – Patau Syndrome (Trisomy 13 – 15) – Cri Du Chat Syndrome – Prader-Willi Syndrome – Angelman Syndrome*

57 Autosomal Disorders Downs Syndrome Edwards Syndrome Patau Syndrome Cri Du Chat Syndrome Prader-Willi Syndrome Angelman Syndrome* Disorder of Non-Sex Chromosome

58 Down Syndrome AKA – Trisomy 21 – Mongolism

59 Down syndrome Associated with – Older mothers – >35

60 Down Syndrome Detected through pre- natal screening

61 Down Syndrome Common Features Mild-severe ID

62 Down Syndrome Short stature

63 Down Syndrome Common Features Mongoloid eye slant

64 Down Syndrome Common Features Epicanthal Folds

65 Down Syndrome Common Features Brushfield spots – White or gray spots on the edge of the iris

66 Down Syndrome Common Features Protruding fissured tongue, open mouth

67 Down Syndrome Common Features Small, flattened skull

68 Down Syndrome Common Features Transverse palmar crease

69 Down Syndrome Common Features Transverse palmar crease

70 Deceased transverse palmar Crease

71 Down Syndrome Common Features Short, broad hands with clinodactyly

72 Down Syndrome Common problems Upper respiratory infections Cardiac abnormalities GI/feeding problems Speech/language difficulty Behavior problems Vision/hearing problems

73 Down Syndrome Common treatments Speech tx Special ed. Behavior mod. Corrective surgery Corrective lens / heading aids Cardiac / resp. meds

74 Edwards Syndrome AKA – Trisomy 18 Extra chromosome 18 Identified in 1960

75 Edwards Syndrome Incidence – 1:3000 newborns – 3 X more girls than boys – Older mother Poor life expectancy (50% die by one week of age)

76 Edwards Syndrome Common Features ID

77 Edwards Syndrome Common Features ID Microcephaly Prominent occiput Micrognathia Ocular Hypertelorism Ptosis Low set ears

78 Edwards Syndrome Common features Umbilical hernia Undescended testes

79 What is the medical term for an undescended testicle? A.Hypotesticularism B.Onycholysis C.Cryptorchidism D.Microtesticulation E.Prolapsed testicle

80 Edwards Syndrome Common features Clenched hands; Underdeveloped thumbs and or nails, webbing of the second and third toes

81 clenched hands; underdeveloped thumbs

82 Edwards Syndrome Clubfoot Web toes

83 Edwards Syndrome Common problems Hypertonia or hypotonia Seizures Cardiac abnormalities Deafness Few live beyond 1 year

84 Edwards Syndrome Treatment Modalities Anti-convulsant Supportive care

85 Pataus Syndrome AKA Trisomy 13 1 st identified – 1960 – Patau, et al. Incidence – 1:7600 newborns

86 Pataus Syndrome Common Features Polydactly Seizures Deafness Microcephaly Midline cleft lip / palate Abnormal ears, sloping forehead Cardiac and renal anomalies

87 Pataus Syndrome Common problems Poor life expectancy

88 Pataus Syndrome Common treatment Supportive care

89 Cri du chat syndrome AKA – Cat Cry Syndrome Short arm of #5 chromosome undergoes partial deletion F > M Incidence – 1:20,000-1:50,000 v=TYQrzFABQHQ v=TYQrzFABQHQ CRY

90 Cri du chat syndrome Common Features High-pitched cry low birth weight Microcephaly Hypotonia Hypertelorism Cardiac defects Palpebral slant

91 Cri du chat syndrome Common features Micrognathia Small head, low-set ears Webbing of fingers or toes Trans-palmer crease

92 Cri du chat syndrome Common problem Severe ID – (IQ < 50) Sufficient verbal skills – 50% Self care deficit

93 Cri du chat syndrome Common treatment Special ed. SLP Counseling m/watch?v=La1D4cNQ5 kQ m/watch?v=La1D4cNQ5 kQ What a person can do is more important than what they cant do.

94 Prader-willi syndrome 1 st described 1887 Deletion on fathers chromosome 15 Incidence – 1:12,000-15,000

95 Prader-Willi Syndrome Common Features M = F ID – Ave IQ: 70

96 Prader-Willi Syndrome Common Features Under-developed sex organs Ineffective eating patterns

97 Prader-Willi Syndrome-Common Problems Obesity Hyperphagia Hypogonadism Hypotonia ID / learning disabilities – In the class room

98 Prader-Willi Syndrome-Common Treatment Behavior modification Dietary management SLP Growth hormone

99 Angelman syndrome AKA – Happy Puppet Syndrome Rare Deletion on mothers chromosome 15

100 Angelman Syndrome Common Features Small head, wide, smiling mouth Thin upper lip, pointed chin, prominent tongue Frequent laughter Hand-flapping when excited

101 Angelman Syndrome Common Problems ID – Severe: – IQ < 50 Disparity between receptive and expressive language

102 Angelman Syndrome Common Problems Sleep disorder Jerky gait, ataxia Microcephaly Strabismus Seizures Hyperactivity

103 Angelman Syndrome Common Treatment Seizure control PT / OT / SLP Behavior mod. & special ed. Communication devices m/user/AngelmanSyndr omeFdn m/user/AngelmanSyndr omeFdn

104 Course Content #21 Describe the key features associated with the following disorders of the sex chromosomes – Klinefelters Syndrome – XYY males – XXX females – Turner Syndrome – Fragile X

105 Klinefelters Syndrome AKA – XXY Affects only – males Not apparent until – puberty

106 Klinefelters Syndrome-Common Features Tall Female-like breasts Testicular under- development Impairment of secondary sex characteristics ID – If any - mild

107 Klinefelters Syndrome Common Problems Frequently sterile Learning disability Personality disturbances Behavior problems

108 Klinefelters Syndrome Common Treatments Testosterone therapy Counseling Plastic surgery Behavior modification

109 Turners Syndrome AKA – Gonadal Dysgenesis – XO Syndrome Affects only – Female

110 Turners Syndrome Common Features ID – Occasional – Learning disabilities Life expectancy – normal

111 Turners Syndrome Common Features Short stature Webbed neck, Low hairline in back Low-set ears Sexual development – ovarian function

112 Turners Syndrome-Common Problems Osteoporosis Constricted aorta Hypertension Kidney problems Hypothyroidism DM -2 Infertility

113 Turners Syndrome Common Treatments No cure Hormones – GH – Estrogen

114 XYY AKA – 47XYY Affects only – males Associated with – criminals

115 XYY Males Common Features Physical – Normal – growth during early childhood Intelligence – Slightly below average

116 XYY Males Common Problems Physical – physical activity – sperm quality Intellectual – Slightly IQ – Learning disabilities

117 XYY Males Common Problems Emotional – Delayed mental maturity – Frustration – Low self-esteem – difficulty with speech – Impulsivity – aggressive & antisocial behaviors

118 XYY Males Common Treatments Channeling physical activity appropriately Behavior modification SLP Acne treatment Counseling

119 XXX Affect only – Female AKA – Super-female

120 XXX Females Common Features Physical – Normal Intellectually – If > 3X (XXXX or XXXXX) ID & DD IQ 50s

121 XXX Females Common Problems ID Growth ? adjustment issues ?unnoticeable

122 XXX Females Common Treatments -special education -counseling

123 Fragile X Syndrome AKA – Martin-Bell Syndrome Etiology – long arm X constricted w/protrusion fragile site Affects – M > F

124 Fragile X Syndrome Common physical Features Male Large ears Long face Prominent chin Short Enlarges testes prominent forehead Flat feet Strabismus Double-jointed fingers Skeletal problems Long, soft hands Female Less affected

125 Fragile X Syndrome Common adaptive Problems Male Attention deficit Speech disturbances Hand flapping, hand biting, autistic behaviors Aversion to touch ? ID – Mild – severe Female Learning disabilities ID – mild

126 Fragile X Syndrome Common Treatment Individualized Special ed. SLP / OT Behavioral tx

127 Course continent #22 Describe the key features associated with the following dominant inheritance syndromes: – Tuberous sclerosis – Neurofibromatosis – Nevoid amentia – Craniostenosis – Aperts Syndrome – Crouzons syndrome – Marfas Syndrome

128 Tuberous Sclerosis AKA – Bourneville-Pringle Syndrome Etiology – Chrom. 9 – Chrom. 16 Results in – Tumors in many parts of body

129 Tuberous Sclerosis Common Features Tumors – Heart, brain, eyes, kidneys, skin, etc. Triad: – Epilepsy – MR – adenoma sebaceum Butterfly rash

130 Tuberous Sclerosis Common Problems Progressive seizures Sebaceous glands are tumorous ID – Varies severe – Learning problems

131 Tuberous Sclerosis Common Treatment Early intervention is key Seizure control – Rx Surgery? Special education Behavior management

132 Neurofibromatosis

133 Two types: NF 1 - AKA – Von Recklinghausens Disease – Chrom. 17 NF 2 – Chrom. 22

134 Neurofibromatosis Common Physical Features Café au lait spots Skin tumors are common CNS and PNS tumors Diffuse freckling Scoliosis Neurofibromatosis with café au lait spot

135 Neurofibromatosis Common Features 10-33% ID

136 Neurofibromatosis Common Problems Tumors – Disfigurement

137 Neurofibromatosis Common Treatment Surgery Symptomatic

138 Deceased-Neurofibromatosis

139 Nevoid amentia

140 Craniostenosis

141 Aperts Syndrome AKA – Acrocephalosyndactyly Etiology – Gene on chrom. 10 – often assoc. with older father

142 Aperts Syndrome Common Features Premature closure of cranial sutures – Cone-shaped head Fused fingers and toe 20-30% ID – ICP

143 Aperts Syndrome-Mitten Hand

144 Aperts Syndrome-Sock Foot

145 Aperts Syndrome Common Problems Fused digits Malocclusion of teeth Hearing problems – Frequent otitis Cleft palate – Some

146 Aperts Syndrome Common Treatment Surgery Cranial – multi-staged – cranial remodeling separate digits Orthodontia SLP Eat tubes Counseling

147 Aperts Syndrome-

148 Crouzans Syndrome AKA – Craniofacial Dystosis – Similar to Aperts, but no syndactyly

149 Crouzans Syndrome Common physical Features Premature closure of cranial bones Exophthalmos Hypertelorism Malformed mouth Beaked nose

150 Crouzans Syndrome-Common Features 0-20% have ID – mild to moderate – D/T ICP

151 Crouzans Syndrome Common Problems Hydrocephalus Hearing problems Visual problems Speech problems

152 Crouzans Syndrome Common Treatment Surgery cranial remodeling Symptoms special education Shunt Orthodontia Vision/dental care Counseling

153 6) Marfans Syndrome AKA – Arachnodactyly Chrom 15 – geneFBN1 Connective tissue disorder Affect – heart, skeleton, blood vessels, NS, skin, lungs

154 Marfans Syndrome Common Physical Features Long, narrow face Flat feet Protruding or indented sternum length of long bones

155 Marfans Syndrome Common Features Some mild ID – Most normal IQ Flo Hyman

156 Marfans Syndrome Common Problems Heart problems Scoliosis Lens/retinal detachments Learning problems Self-image problems Michael Phelps

157 Marfans Syndrome-Common Treatment Symptoms Orthotics Vision care Cardiac surgery Special ed. Counseling Jonathan Larson


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