Transcript Lecture #3 - Porterville College

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
Prenatal Testing
• Amniocentesis
– amniotic fluid + fetal
cells
Prenatal testing
• Fetal Blood Sampling
(FBS)
– Detect chromosomal
abnormalities
Screening for future problems
• DNA – based genetic
tests
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?
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
Some DNA-based genetic tests
•
•
•
•
•
•
•
Dystonia
Fragile X syndrome
Gaucher disease
Hemophilia
Colon Cancer
Huntington’s disease
Myotonic dystrophy
• Neurofibromatosis
• Phenylketonuria
• Prader Willi / Angleman
syndromes
• Sickel-cell disease
• Spinocerebellar ataxia
• Tay-Sachs disease
• Thalassemias
Course content #18
• Identify the various morphological
features commonly seen in the D.D.
client
– Head & face
– Eyes
– Extremities
Head Circumference
Microcephaly
• i head circumference
Unusual hair whorls
Normal ear
Microtia
• Underdeveloped pinna
Microtia
Microtia
Hypoplastic ear
Low set ear
• Low set ear
• hypoplastic
Ear Placement
Low set ears
Posteriorly rotated
Micrognathia
• Small jaw
Micrognathia
• Small lower jaw
Prognathia
• Maxilla or mandible is
forward of the skull
Hydrocephaly
• AKA
– Water on the brain”
• D/t
– h CSF 
– h I-ICP  …
Scaphocephaly
• Long, narrow head
Eyes
• Edema
Dysconjugate eye movement
• Eyes appear to move
independently
Epicanthal folds
• Epicanthal fold extending above the
inner canthus
Ptosis
• Dropping eye lid
Anisocoria
• Unequal pupil size
Exophthalmos
• Bulging eyes
• D/T
– edema
Strabismus / heterotropia
• AKA
– Cross-eyes
• Eyes are not aligned
Setting sun
Nystagmus
• AKA
– “Dancing eye’s”
• http://upload.wikimedi
a.org/wikipedia/commo
ns/b/b6/Optokinetic_ny
stagmus.gif
Ocular Hypertelorism
• h distance between the
eyes
Palpebral slant
mongoloid slant
Normal hand Crease
Transverse Palmar Crease
• Old term
– “Simian crease”
Edema of the Feet
Edema of the Feet
Sandal Gap Deformity
• Increase gap between
great and 1st toe
Sandal Gap Deformity
Syndactyly
• Two or more digits are
fused together
Pes planus
• AKA
– “Flat foot”
Talipes equinus
• AKA
– Club foot
Pectus excavatum
• AKA
– Funnel chest
Hypotonia
Hypotonia
What is this?
A. Sydactyly
B. Hypotonia
Course Content #19
• Differentiate between the following
types of abnormal cell divisions
–Non-disjunctive
–Crossing over
–Translocation
Abnormal cell division
• Non-disjunctive
– Failure of the
chromosome to
separate properly
•
http://www.sumanasinc.com/webco
ntent/animations/content/mistakesm
eiosis/mistakesmeiosis.swf
Crossing-over
• Not an abnormal cell
division
• Occurs only in
– Meiosis
• Allows for
– Diversity
Abnormal cell division
• Translocation
– During crossing-over
part of the
chromosome breaks
off and attached to
another
chromosome
Abnormal cell division
• Most incompatible with
life 
– Spontaneous abortion
Course Content #20
• Describe the main features seen in the following
autosomal disorders:
–
–
–
–
–
–
Downs Syndrome
Edward’s Syndrome (Trisomy 18)
Patau Syndrome (Trisomy 13 – 15)
Cri Du Chat Syndrome
Prader-Willi Syndrome
Angelman Syndrome*
Autosomal Disorders
Downs Syndrome
Edward’s Syndrome
Patau Syndrome
Cri Du Chat Syndrome
Prader-Willi Syndrome
Angelman Syndrome*
Disorder of Non-Sex
Chromosome
•
•
•
•
•
•
Down Syndrome
• AKA
–Trisomy 21
–Mongolism
Down syndrome
• Associated with
–Older mothers
–>35
Down Syndrome
• Detected through prenatal screening
Down Syndrome
Common Features
• Mild-severe ID
Down Syndrome
• Short stature
Down Syndrome
Common Features
• Mongoloid eye slant
Down Syndrome
Common Features
• Epicanthal Folds
Down Syndrome
Common Features
• Brushfield spots
– White or gray spots on
the edge of the iris
Down Syndrome
Common Features
• Protruding fissured
tongue, open mouth
Down Syndrome
Common Features
• Small, flattened skull
Down Syndrome
Common Features
• Transverse palmar
crease
Down Syndrome
Common Features
• Transverse palmar
crease
Deceased
transverse palmar Crease
Down Syndrome
Common Features
• Short, broad hands with
clinodactyly
Down Syndrome
Common problems
• Upper respiratory
infections
• Cardiac abnormalities
• GI/feeding problems
• Speech/language
difficulty
• Behavior problems
• Vision/hearing
problems
Down Syndrome
Common treatments
•
•
•
•
•
Speech tx
Special ed.
Behavior mod.
Corrective surgery
Corrective lens /
heading aids
• Cardiac / resp. meds
Edward’s Syndrome
• AKA
– Trisomy 18
• Extra chromosome 18
• Identified in 1960
Edward’s Syndrome
• Incidence
– 1:3000 newborns
– 3 X more girls than boys
– Older mother
• Poor life expectancy
(50% die by one week
of age)
Edward’s Syndrome
Common Features
• ID
Edward’s Syndrome
Common Features
•
•
•
•
•
•
•
ID
Microcephaly
Prominent occiput
Micrognathia
Ocular Hypertelorism
Ptosis
Low set ears
Edward’s Syndrome
Common features
• Umbilical hernia
• Undescended testes
What is the medical term for an
undescended testicle?
A. Hypotesticularism
B. Onycholysis
C. Cryptorchidism
D. Microtesticulation
E. Prolapsed testicle
Edward’s Syndrome
Common features
• Clenched hands;
• Underdeveloped
thumbs and or nails,
webbing of the second
and third toes
• clenched hands;
• underdeveloped
thumbs
Edward’s Syndrome
• Clubfoot
• Web toes
Edward’s Syndrome
Common problems
• Hypertonia or
hypotonia
• Seizures
• Cardiac abnormalities
• Deafness
• Few live beyond 1 year
Edward’s Syndrome
Treatment Modalities
• Anti-convulsant
• Supportive care
Patau’s Syndrome
• AKA Trisomy 13
• 1st identified
– 1960
– Patau, et al.
• Incidence
– 1:7600 newborns
Patau’s Syndrome
Common Features
•
•
•
•
•
•
Polydactly
Seizures
Deafness
Microcephaly
Midline cleft lip / palate
Abnormal ears, sloping
forehead
• Cardiac and renal
anomalies
Patau’s Syndrome
Common problems
• Poor life expectancy
Patau’s Syndrome
Common treatment
• Supportive care
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
• http://www.youtube.com/watch?
v=TYQrzFABQHQ
• CRY
Cri du chat syndrome
Common Features
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•
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•
High-pitched cry
low birth weight
Microcephaly
Hypotonia
Hypertelorism
Cardiac defects
Palpebral slant
Cri du chat syndrome
Common features
• Micrognathia
• Small head, low-set ears
• Webbing of fingers or
toes
• Trans-palmer crease
Cri du chat syndrome
Common problem
• Severe ID
– (IQ < 50)
• Sufficient verbal skills
– 50%
• Self care deficit
Cri du chat syndrome
Common treatment
• Special ed.
• SLP
• Counseling
• http://www.youtube.co
m/watch?v=La1D4cNQ5
kQ
• What a person can do is
more important than
what they can’t do.
Prader-willi syndrome
• 1st described 1887
• Deletion on father’s
chromosome 15
• Incidence
– 1:12,000-15,000
Prader-Willi Syndrome
Common Features
• M=F
• ID
– Ave IQ: 70
Prader-Willi Syndrome
Common Features
• Under-developed sex
organs
• Ineffective eating
patterns
Prader-Willi Syndrome-Common
Problems
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•
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•
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Obesity
Hyperphagia
Hypogonadism
Hypotonia
ID / learning disabilities
• http://www.youtube.com/watch?v=Y5LhSePDvqk
– In the class room
Prader-Willi Syndrome-Common
Treatment
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•
Behavior modification
Dietary management
SLP
Growth hormone
Angelman syndrome
• AKA
– Happy Puppet Syndrome
• Rare
• Deletion on mother’s
chromosome 15
Angelman Syndrome
Common Features
• Small head, wide,
smiling mouth
• Thin upper lip, pointed
chin, prominent tongue
• Frequent laughter
• Hand-flapping when
excited
Angelman Syndrome
Common Problems
• ID
– Severe:
– IQ < 50
• Disparity between
receptive and
expressive language
Angelman Syndrome
Common Problems
•
•
•
•
•
•
Sleep disorder
Jerky gait, ataxia
Microcephaly
Strabismus
Seizures
Hyperactivity
Angelman Syndrome
Common Treatment
• Seizure control
• http://www.youtube.co
m/user/AngelmanSyndr
• PT / OT / SLP
omeFdn
• Behavior mod. & special
ed.
• Communication devices
Course Content #21
• Describe the key features associated with the
following disorders of the sex chromosomes
– Klinefelter’s Syndrome
– XYY males
– XXX females
– Turner Syndrome
– Fragile X
Klinefelter’s Syndrome
• AKA
– XXY
• Affects only
– males
• Not apparent until
– puberty
Klinefelter’s Syndrome-Common Features
• Tall
• Female-like breasts
• Testicular underdevelopment
• Impairment of
secondary sex
characteristics
• ID
– If any - mild
Klinefelter’s Syndrome
Common Problems
• Frequently sterile
• Learning disability
• Personality
disturbances
• Behavior problems
Klinefelter’s Syndrome
Common Treatments
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•
•
•
Testosterone therapy
Counseling
Plastic surgery
Behavior modification
Turner’s Syndrome
• AKA
– Gonadal Dysgenesis
– XO Syndrome
• Affects only
– Female
Turner’s Syndrome
Common Features
• ID
– Occasional
– Learning disabilities
• Life expectancy
– normal
Turner’s Syndrome
Common Features
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Short stature
Webbed neck,
Low hairline in back
Low-set ears
Sexual development
– i ovarian function
Turner’s Syndrome-Common
Problems
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•
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•
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•
•
Osteoporosis
Constricted aorta
Hypertension
Kidney problems
Hypothyroidism
DM -2
Infertility
Turner’s Syndrome
Common Treatments
• No cure
• Hormones
– GH
– Estrogen
XYY
• AKA
– 47XYY
• Affects only
– males
• Associated with
– criminals
XYY Males
Common Features
• Physical
– Normal
– h growth during
early childhood
• Intelligence
– Slightly below
average
XYY Males
Common Problems
• Physical
– h physical activity
– i sperm quality
• Intellectual
– Slightly i IQ
– Learning disabilities
XYY Males
Common Problems
• Emotional
– Delayed mental
maturity
– Frustration
– Low self-esteem
– difficulty with speech
– Impulsivity
– aggressive & antisocial
behaviors
XYY Males
Common Treatments
• Channeling physical
activity appropriately
• Behavior modification
• SLP
• Acne treatment
• Counseling
XXX
• Affect only
–Female
• AKA
–Super-female
XXX Females
Common Features
• Physical
– Normal
• Intellectually
– If > 3X (XXXX or
XXXXX)
• h ID & DD
• IQ 50’s
XXX Females
Common Problems
•
•
•
•
ID
i Growth
? adjustment issues
?unnoticeable
XXX Females
Common Treatments
-special
education
-counseling
Fragile X Syndrome
• AKA
– Martin-Bell Syndrome
• Etiology
– long arm X constricted
w/protrusion “fragile
site”
• Affects
– M>F
Fragile X Syndrome
Common physical Features
Male
•
•
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•
•
•
•
•
•
•
•
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
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
Fragile X Syndrome
Common Treatment
Individualized
• Special ed.
• SLP / OT
• Behavioral tx
Course continent #22
• Describe the key features associated with the
following dominant inheritance syndromes:
–
–
–
–
–
–
–
Tuberous sclerosis
Neurofibromatosis
Nevoid amentia
Craniostenosis
Apert’s Syndrome
Crouzon’s syndrome
Marfa’s Syndrome
Tuberous Sclerosis
• AKA
– Bourneville-Pringle
Syndrome
• Etiology
– Chrom. 9
– Chrom. 16
• Results in
– Tumors in many
parts of body
Tuberous Sclerosis
Common Features
• Tumors
– Heart, brain, eyes,
kidneys, skin, etc.
• Triad:
– Epilepsy
– MR
– adenoma sebaceum
• “Butterfly” rash
Tuberous Sclerosis
Common Problems
• Progressive seizures
• Sebaceous glands are
tumorous
• ID
– Varies  severe
– Learning problems
Tuberous Sclerosis
Common Treatment
• Early intervention is key
• Seizure control
– Rx
• Surgery?
• Special education
• Behavior management
Neurofibromatosis
Neurofibromatosis
Two types:
• NF 1 - AKA
– Von Recklinghausen’s
Disease
– Chrom. 17
• NF 2
– Chrom. 22
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
Neurofibromatosis
Common Features
• 10-33% ID
Neurofibromatosis
Common Problems
• Tumors
– Disfigurement
Neurofibromatosis
Common Treatment
• Surgery
• Symptomatic
Deceased-Neurofibromatosis
Nevoid amentia
Craniostenosis
Apert’s Syndrome
• AKA
– Acrocephalosyndactyly
• Etiology
– Gene on chrom. 10
– often assoc. with older
father
Apert’s Syndrome
Common Features
• Premature closure of
cranial sutures
– Cone-shaped head
• Fused fingers and toe
• 20-30% ID
– h ICP
Apert’s Syndrome-Mitten Hand
Apert’s Syndrome-Sock Foot
Apert’s Syndrome
Common Problems
• Fused digits
• Malocclusion of teeth
• Hearing problems
– Frequent otitis
• Cleft palate
– Some
Apert’s Syndrome
Common Treatment
Surgery
• Cranial
– multi-staged
– “cranial remodeling”
•
•
•
•
•
separate digits
Orthodontia
SLP
Eat tubes
Counseling
Apert’s Syndrome-
Crouzan’s Syndrome
• AKA
– Craniofacial Dystosis
– Similar to Apert’s, but no
syndactyly
Crouzan’s Syndrome
Common physical Features
• Premature closure of
cranial bones
• Exophthalmos
• Hypertelorism
• Malformed mouth
• Beaked nose
Crouzan’s Syndrome-Common
Features
• 0-20% have ID
– mild to moderate
– D/T h ICP
Crouzan’s Syndrome
Common Problems
 Hydrocephalus
 Hearing problems
 Visual problems
 Speech problems
Crouzan’s Syndrome
Common Treatment
Surgery
• cranial remodeling
Symptoms
• special education
• Shunt
• Orthodontia
• Vision/dental care
• Counseling
6) Marfan’s Syndrome
• AKA
– Arachnodactyly
• Chrom 15 – geneFBN1
• Connective tissue
disorder
• Affect
– heart, skeleton, blood
vessels, NS, skin, lungs
Marfan’s Syndrome
Common Physical Features
• Long, narrow face
• Flat feet
• Protruding or indented
sternum
• h length of long bones
Marfan’s Syndrome
Common Features
• Some mild ID –
• Most normal IQ
• Flo Hyman
Marfan’s Syndrome
Common Problems
• Heart problems
• Scoliosis
• Lens/retinal
detachments
• Learning problems
• Self-image problems
• Michael Phelps
Marfan’s Syndrome-Common
Treatment
Symptoms
• Orthotics
• Vision care
• Cardiac surgery
• Special ed.
• Counseling
• Jonathan Larson