p020a developmental disabilities lecture #3

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 Non-Sex

Chromosom

e

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