p020a developmental disabilities lecture #3 mrs. keele
TRANSCRIPT
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 earsPosteriorly 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.wikimedia.org/wikipedia/commons/b/b6/Optokinetic_nystagmus.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. SydactylyB. 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/webcontent/animations/content/mistakesmeiosis/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 N
on-Sex Chrom
osome
Down Syndrome
• AKA–Trisomy 21–Mongolism
Down syndrome
• Associated with–Older mothers–>35
Down Syndrome
• Detected through pre-natal screening
Down SyndromeCommon Features
• Mild-severe ID
Down Syndrome
• Short stature
Down SyndromeCommon Features
• Mongoloid eye slant
Down SyndromeCommon Features
• Epicanthal Folds
Down SyndromeCommon Features
• Brushfield spots– White or gray spots on
the edge of the iris
Down SyndromeCommon Features
• Protruding fissured tongue, open mouth
Down SyndromeCommon Features
• Small, flattened skull
Down SyndromeCommon Features
• Transverse palmar crease
Down SyndromeCommon Features
• Transverse palmar crease
Deceased transverse palmar Crease
Down SyndromeCommon Features
• Short, broad hands with clinodactyly
Down SyndromeCommon problems
• Upper respiratory infections
• Cardiac abnormalities• GI/feeding problems• Speech/language
difficulty• Behavior problems• Vision/hearing
problems
Down SyndromeCommon 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 SyndromeCommon Features
• ID
Edward’s SyndromeCommon Features
• ID• Microcephaly• Prominent occiput• Micrognathia• Ocular Hypertelorism• Ptosis• Low set ears
Edward’s SyndromeCommon features
• Umbilical hernia • Undescended testes
What is the medical term for an undescended testicle?
A. HypotesticularismB. OnycholysisC. CryptorchidismD. MicrotesticulationE. Prolapsed testicle
Edward’s SyndromeCommon 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 SyndromeCommon problems
• Hypertonia or hypotonia
• Seizures• Cardiac abnormalities• Deafness• Few live beyond 1 year
Edward’s SyndromeTreatment Modalities
• Anti-convulsant• Supportive care
Patau’s Syndrome
• AKA Trisomy 13• 1st identified – 1960 – Patau, et al.
• Incidence – 1:7600 newborns
Patau’s SyndromeCommon Features
• Polydactly • Seizures • Deafness • Microcephaly • Midline cleft lip / palate • Abnormal ears, sloping
forehead • Cardiac and renal
anomalies
Patau’s SyndromeCommon problems
• Poor life expectancy
Patau’s SyndromeCommon 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 syndromeCommon Features
• High-pitched cry • low birth weight• Microcephaly• Hypotonia • Hypertelorism• Cardiac defects• Palpebral slant
Cri du chat syndromeCommon features
• Micrognathia • Small head, low-set ears • Webbing of fingers or
toes • Trans-palmer crease
Cri du chat syndromeCommon problem
• Severe ID– (IQ < 50)
• Sufficient verbal skills– 50%
• Self care deficit
Cri du chat syndromeCommon treatment
• Special ed.• SLP• Counseling
• http://www.youtube.com/watch?v=La1D4cNQ5kQ
• 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 SyndromeCommon Features
• M = F• ID– Ave IQ: 70
Prader-Willi SyndromeCommon Features
• Under-developed sex organs
• Ineffective eating patterns
Prader-Willi Syndrome-Common Problems
• Obesity • Hyperphagia• Hypogonadism• Hypotonia• ID / learning disabilities• http://www.youtube.com/watch?v=Y5LhSePDvqk
– In the class room
Prader-Willi Syndrome-Common Treatment
• Behavior modification• Dietary management• SLP • Growth hormone
Angelman syndrome
• AKA – Happy Puppet Syndrome
• Rare• Deletion on mother’s
chromosome 15
Angelman SyndromeCommon 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 SyndromeCommon Treatment
• Seizure control• PT / OT / SLP• Behavior mod. & special
ed.• Communication devices
• http://www.youtube.com/user/AngelmanSyndromeFdn
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 under-
development• Impairment of
secondary sex characteristics
• ID– If any - mild
Klinefelter’s SyndromeCommon Problems
• Frequently sterile• Learning disability • Personality
disturbances• Behavior problems
Klinefelter’s SyndromeCommon Treatments
• Testosterone therapy• Counseling• Plastic surgery • Behavior modification
Turner’s Syndrome
• AKA – Gonadal Dysgenesis– XO Syndrome
• Affects only– Female
Turner’s SyndromeCommon Features
• ID – Occasional– Learning disabilities
• Life expectancy– normal
Turner’s SyndromeCommon Features
• Short stature• Webbed neck,• Low hairline in back• Low-set ears• Sexual development– i ovarian function
Turner’s Syndrome-Common Problems
• Osteoporosis• Constricted aorta• Hypertension• Kidney problems• Hypothyroidism• DM -2 • Infertility
Turner’s SyndromeCommon Treatments
• No cure• Hormones–GH– Estrogen
XYY
• AKA– 47XYY
• Affects only – males
• Associated with– criminals
XYY MalesCommon Features
• Physical – Normal– h growth during
early childhood• Intelligence– Slightly below
average
XYY MalesCommon Problems
• Physical– h physical activity– i sperm quality
• Intellectual– Slightly i IQ– Learning disabilities
XYY MalesCommon Problems
• Emotional– Delayed mental maturity– Frustration– Low self-esteem– difficulty with speech– Impulsivity– aggressive & antisocial
behaviors
XYY MalesCommon Treatments
• Channeling physical activity appropriately
• Behavior modification• SLP• Acne treatment• Counseling
XXX
• Affect only –Female
• AKA–Super-female
XXX FemalesCommon Features
• Physical–Normal
• Intellectually– If > 3X (XXXX or
XXXXX) • h ID & DD• IQ 50’s
XXX FemalesCommon Problems
• ID• i Growth • ? adjustment issues• ?unnoticeable
XXX FemalesCommon 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 SyndromeCommon 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
Fragile X SyndromeCommon 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 SyndromeCommon 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 SclerosisCommon Features
• Tumors – Heart, brain, eyes,
kidneys, skin, etc.• Triad: – Epilepsy– MR– adenoma sebaceum
• “Butterfly” rash
Tuberous SclerosisCommon Problems
• Progressive seizures• Sebaceous glands are
tumorous• ID– Varies severe– Learning problems
Tuberous SclerosisCommon 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
NeurofibromatosisCommon Physical Features
• Café au lait spots• Skin tumors are
common• CNS and PNS tumors• Diffuse freckling• Scoliosis
• Neurofibromatosis with café au lait spot
NeurofibromatosisCommon Features
• 10-33% ID
NeurofibromatosisCommon Problems
• Tumors – Disfigurement
NeurofibromatosisCommon 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 SyndromeCommon 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 SyndromeCommon Problems
• Fused digits• Malocclusion of teeth• Hearing problems– Frequent otitis
• Cleft palate– Some
Apert’s SyndromeCommon 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 SyndromeCommon 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 SyndromeCommon Problems
Hydrocephalus Hearing problems Visual problems Speech problems
Crouzan’s SyndromeCommon Treatment
Surgery • cranial remodelingSymptoms• 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 SyndromeCommon Physical Features
• Long, narrow face• Flat feet• Protruding or indented
sternum• h length of long bones
Marfan’s SyndromeCommon Features
• Some mild ID – • Most normal IQ
• Flo Hyman
Marfan’s SyndromeCommon 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