I.
Syndromes
Cerebral Palsy, Down Syndrome, Fragile X Syndrome, Mental Retardation
A. Cerebral Palsy
Cerebral Palsy is a persistent, but not unchanging, disorder of movement and posture appearing in the early
years of life due to traumatic or inflammatory brain damage. Affects virtually all motor systems. Can be
acquired
B. Etiology
C. Incidence/Prevalence
D. Classifications
E. Visual Characteristics
F. Refractive Characteristics
G. Binocular Characteristics
H. Ocular Health
1. Nystagmus
2. Optic nerve atrophy
3. Cortical blindness
4. Cataract
5. Fundus anomalies
6. Microphthalmos
7. Corneal anomalies
I. Cerebral Palsy Positioning
J. Cerebral Palsy Examination Tips
1. Positioning, 2. Right tools (objective assessment), 3. No sudden movement, 4.No loud, unexpected
noises, 5. Speak smoothly, soothingly, softly….if appropriate, sing to the patient! Smile, smile SMILE!!!
Cerebral Palsy Websites
American Academy of Cerebral Palsy http://149.142.183.10/new/home.html
United Cerebral Palsy Association http://www.ucpa.org/html/
Cerebral Palsy Tutorial http://hsc.virginia.edu/cmc/tutorials/cp/
K. Down Syndrome
Langdon Down 1866, Mongolism” no longer used
Most common genetic anomaly, Variable levels of ability & disability
L. Down Syndrome Prevalence/Incidence
M. Down Syndrome Etiology
N. Down Syndrome Physical Features
O. Down Syndrome Ocular Features
P. Down Syndrome Visual Acuity
Q. Down Syndrome Refractive Error
R. Down Syndrome Binocular Characteristics
S. Down Syndrome
Ocular Health
Down Syndrome Websites
National Association for Down Syndrome http://www.nads.org/
National Down Syndrome Society http://www.ndss.org/
Health Care Guidelines for people with DS http://www.denison.edu/dsq/health96.html
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Fragile X Syndrome Overview
Most frequently encountered inherited form of mental retardation (X-linked MR)
Often misdiagnosed in the past
“New” syndrome that has caught the imagination of researchers around the world
1st human disease shown to be caused by a repeated nucleotide sequence
Fragile X Syndrome
X-linked MR 1 in 500 males, 1 in 250 females (females at risk as carriers)
Fra X 1 in 1200 males, 1 in 2000 females
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1 in 625 females may carry the gene!
20% males not affected (transmitting males)
30% heterozygous females affected
Associated with all races, ethnic groups, other disabilities (autism, Down syndrome, etc.)
V. Fragile X Syndrome
1. 6.2% of institutionalized males
2. 25-50% of X-linked retarded male population
If you work with individuals with developmental disability, you have already evaluated children and adults with
Fragile X Syndrome
W. Fragile X Syndrome Characteristics
1. Connective tissue anomalies
a. Hyperextensible joints b.Mitral valve prolapse c.
Prognathism d. Facial asymmetry
e. Prominent forehead f. Flat feet g.Hand calluses h.Palmer creases i.Hallucal creases
j. Hypotonia k.Doliocephaly l.Pectus excavatum n. Large prominent ears o. Long narrow face
p. Macro-orchidism (80% affected men) q. Other: hypotonia, seizures, recurrent otitis media
2. First demonstrated genetic etiology of learning disability
3. Variable mental retardation
4. Math, language delay
5. Sensory integration problems
6. Attentional deficits
7. Psychiatric illnesses (shy)
8. Gaze Avoidance How do you conduct an examination on an individual that won’t look at you?
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Fragile X Syndrome Diagnosis
Triplet nucleotide repeated sequence
cytosine, guanine, guanine (CGG)
0-50 CGG repeats normal, 50-200 premutation, > 200 full syndrome
Fragile site on X chromosome (band q27.3)
Cytogenetics
a, many false negatives
b. not reliable for females
c. DNA probes now
standard diagnostic procedure
Fragile X Syndrome
Ocular Findings
Strabismus (33-50%)
Nystagmus
Refractive error
Accommodative dysfunctions?
Oculomotor anomalies
Ocular Health?
Perceptual dysfunction
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Fragile X Syndrome Check List
Feature
Not Present
Borderline
Present
Score
0
1
2
Mental Retardation
Hyperactivity
Short Attention Span
Tactile Defensiveness
Hand Flapping
Hand Biting
Poor Eye Contact
45% of those with a
score of 16 or higher
are positive for fra X
60% of those with a
score of 19 or higher
are positive for fra X
Perserverative Speech
Hyperextensible Joints
Large Ears
Large Testicles
Simian Crease
Family Hx MR
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Fragile X Syndrome Websites
National Fragile X Foundaton http://www.fragilex.org/
Fragile X Association of Southern California http://www.fraxsocal.org/
Fra X Diagnosis http://www.faseb.org/genetics/acmg/pol-16.htm
FraxA http://www.fraxa.org/
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Mental Retardation without Specific Etiology
Most frequently encountered form of MR
4000 known Mendelian Characteristics in Man
http:www3.ncbi.nlm.nih.gov/omi
Mental Retardation
Classification
Mild/Educable
Moderate/Trainable
Severe
Profound
Classification
IQ
50-70
35-55
20-40
below 20
Mental Retardation Websites
The ARC http://thearc.org/
National Association for the Developmentally Disabiled http://www.thenadd.org/home.stm
American Association on Mental Retardation http://www.aamr.org/
AA.
Summary
Down Syndrome Cerebral Palsy Fragile X Syndrome
AB.
Assessment Techniques for Special Populations
Use everything you know, be creative, and trust your objective evaluation skills!
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Diagnosis
greet patient by name 2.position yourself at patient’s eye level 3.be on schedule
consider patient’s wishes about 5.family/friends in exam room 6.direct initial comments to patient
treat patient as a person first, then as an individual with a disability
speak clearly 9.listen carefully 10.use short command sentences
a.
“look here” b. “do this” c.
“watch my light”
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AD.
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Case History
Visual Acuity
Snellen 2.
OKN
Broken Wheel 3.
HOTV 4.
Lea Symbols 5.
Teller Acuity Cards
AE.
Refractive Error
1. Mohindra Dynamic Retinoscopy
lens bars, 50 cm working distance, dark, pt looks at light, neutralize primary meridians, write in
spherocyindrical form, add a (-) minus 1.25 to the sphere
2.
Cycloplegic
spray (Lee Pharmacy 800-209-9940 $37.00)
2% Cyclogel 3.75ml, 1% Tropicamide 7.5ml, 10% Phenylephrine 3.75ml
Spray on closed lids, have pt blink, wipe off excess (.5% Cyclo, .5% Myd, 2.5% Phenyl)
3.
Keratometry
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hand held electronic devices
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Placido’s disk
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Keratoscope
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Binocular Vision Assessment
Observation 2. Cover Test 3. Bruckner 4.
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Binocular Vision Assessment
Lang stereotest 2.
Random Dot E 4.
Worth 4 Dot 5. MEM Nearpoint Retinoscopy
NPC 7. Accommodative Facility 8.
Saccades/Pursuits
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Ocular Health
Slit lamp
Tonopen/Perkins
BIO/MIO/direct
Angle Kappa 5. Hirschberg 6. Krimsky
AI.
Tangential Penlight Angle Estimation
Penlight at temporal aspect of cornea
Angle between 20-35 degrees to the facial plane, Maximum brightness, Open angle = nasal illumination at least
75% as bright as temporal illumination
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Special Testing
VEP, ERG, EOG
Sweep VEP
Ultrasound (A/B scan)
TOVA
Ober II
Assessment
Working with incomplete or “fuzzy” clinical data, “Get over it!”
Treatment
Refractive
Binocular Vision Dysfunction
Ocular Health
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