Diagnosis and Management of Special Populations presents the latest in the assessment and treatment of those with physical, cognitive, and behavioral abnormalities. Up to date information concerning the etiology, prevalence/incidence and physical/cognitive findings of individuals with developmental/acauired disabilities (Cerebral palsy, Down syndrome, Fragile X syndrome, autism, acquired/traumatic brain injury) will be discussed. New diagnostic and treatment techniques are reviewed. The eye care practitioner will be able to confidently provide eye and vision care for those with disability at the end of this presentation.

1. Diagnosis & Management
of Special Populations
Part I
Dominick M. Maino, O.D., M.Ed., F.A.A.O.,
F.C.O.V.D-A.
Professor,
Pediatrics/Binocular Vision Service
Illinois College of Optometry
Illinois Eye Institute
3241 S. Michigan Ave. Chicago, Il. 60616
312-949-7280 (Voice) 312-949-7358 (fax)
dmaino@ico.edu MainosMemos.blogspot.com
www.ico.edu nw.optometry.net
Syndromes
Diagnosis & Treatment
Examples of Care
1

2. Syndromes
• Cerebral Palsy
• Down Syndrome
• Fragile X Syndrome
• Autism
• Mental Retardation/Intellectual Disability
• Acquired/Traumatic Brain Injury
Cerebral Palsy
• What is it?
• What is it’s etiology?
• What is it’s prevalence/incidence?
• How is it classified?
• What are it’s visual characteristics?
2

3. 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
Cerebral Palsy Etiology
• Prenatal
• Intrauterine infections
• Congenital malformations
• Toxic or teratogenic agents
• Multiple births
• Abdominal trauma
• Maternal illness
Cerebral Palsy Etiology
• Neonatal
• Prematurity (less than •Bradycardia and hypoxia
32 weeks' gestation) •Seizures
• Birthweight less than •Hyperbilirubinemia
2500 g •Abnormal birthing
• Growth retardation presentations
• Intracranial
hemorrhage
• Trauma
• Infection
3

4. Cerebral Palsy Etiology
• Postnatal
• Trauma
• Infection
• Intracranial hemorrhage
• Coagulopathies
Cerebral Palsy Incidence/Prevalence
• Incidence 2-4/1000 live births
• Prevalence 1.5-2/1000 live
• births 10% of cases are acquired (trauma)
• Normal life spans, 40% live to age 40, many
living into their senior years
• > 1/2 million individual with CP living in USA
Cerebral Palsy Incidence/Prevalence
• 75% of CP occurs during pregnancy , 5% during childbirth
and/or 15% after birth up to age 3
• 80% the etiology is unknown
• There are 550,000-764,000 persons in the USA with
cerebral palsy
• The number of new cases have increased 25% during the
past decade (1990’s)
• There are now 10,000 new cases/year.
• Average lifetime cost per person of $921,000 (in 2003
dollars)
4

5. Cerebral Palsy Classifications
• Spastic - 70-80%
• Dyskinetic/Athetoid - 10-15%
• Ataxic - <5%
• Mixed
Cerebral Palsy Classifications
• Spastic (Most frequently encountered)
• Pyramidal cells & tracts
• Muscle stiffness & spasticity
• Depressed inhibition
• Muscle co-contracture, hypertonicity,
irritability
• Spastic Diplegia most common in preterm
infants
• Spastic hemiplegia most common in full
term infants
Cerebral Palsy Classification
• Diskentic/Athetoid (Second most frequently
encountered)
• Basal ganglia
• Slow, writhing movements (hallmark)
• Unsteady balance, gait
• Involuntary, irregular head, neck, facial
movements
• Rh incompatibility main etiology
5

6. Cerebral Palsy Classification
• Ataxic (Third most frequently encountered)
• Cerebellum
• Major sign: fine motor dysfunction,
general unsteadiness
• At least one form of ataxic cerebella
CP may be due to consanguinity
Cerebral Palsy Classification
http://www.ecaucp.org/
Cerebral Palsy Classification
Magnetic resonance imaging (MRI) scan of a 16-
month-old boy who was born at term but had an
anoxic event at delivery. Examination findings
are consistent with a spastic quadriplegic
cerebral palsy with asymmetry (more prominent
right-sided deficits). Cystic encephalomalacia in
the left temporal and parietal regions, delayed
myelination, decreased white matter volume,
and enlarged ventricles can be seen. These
findings are most likely the sequelae of a
neonatal insult (eg, periventricular leukomalacia
with a superimposed, left-sided cerebral
infarct).
http://emedicine.medscape.com/article/310740-overview
6

7. Cerebral Palsy Visual Characteristics
Wesson M, Maino D. Oculovisual findings in children with Down
syndrome, Cerebral Palsy, and mental retardation without specific
etiology. In Maino, D. (ed) Diagnosis and management of special
populations. 1995. St. Louis, Mo. , Mosby-Yearbook Inc.:17-54.
• Binocular acuity could be evaluated in 45% of
individuals below age 13
• For CP patients VAs are generally decreased
when compared to those measured for
individuals with Down Syndrome
• Much higher incidence of ocular disease and
neurological dysfunction
Cerebral Palsy Refractive Characteristics
Scheiman MM. Optometric findings in children with cerebral palsy. Am J Optom Physiol
Opt 1984;61:321-333
• 60% significant refractive error
• Hyperopia (>+1.50) 3X more common among CP
children than in non-affected individuals
• Other studies (Black, Breakey et al, Duckman, LoCasio)
support increased refractive error being present
Cerebral Palsy Refractive Characteristic
• Hyperopia present 3Xs more than
when compared to myopia
• Wesson & Maino note:
• many more hyperopes than
myopes
• average amount of significant
myopia is greater
7

8. Cerebral Palsy Binocular
Characteristics
• Prevalence of strabismus exceeds that of general
population by a factor of 10!
• Slightly more esotropia than exotropia
• Dyskinetic Strabismus
• slow tonic deviation similar to vergence
• change from ET to XT
• usually associated with athetoid classification
Cerebral Palsy Ocular Health
• Nystagmus
• Optic nerve atrophy
• Cortical blindness
• Cataract
• Fundus anomalies
• Microphthalmos
• Corneal anomalies
Cerebral Palsy Positioning
How you position the patient will determine what
information you obtain and the quality of that
information.
Ask the patient’s parents, care-givers, and therapists for
positioning suggestions.
Have multiple bolsters, pillows, cushions available.
8

9. Cerebral Palsy Examination Tips
• Positioning
• Right tools (objective assessment)
• No sudden movement
• No loud, unexpected noises
• Speak smoothly, soothingly, softly….if appropriate, sing
to the patient!
• Smile, smile SMILE!!!
Cerebral Palsy
Saunders KJ, McClelland JF, Richardson PM, Stevenson M. Clinical judgment of near pupil
responses provides a useful indicator of focusing ability in children with cerebral palsy.
Dev Med Child Neurol. 2008 Jan;50(1):33-7.
Accommodation is often reduced in cerebral palsy (CP).
Knowledge about accommodative facility is valuable when
investigating a child's visual needs and developing strategies
for education. …. We compared quality of near pupil
responses (NPR) with objective measures of accommodative
function obtained with dynamic retinoscopy (DR) to
investigate the utility of NPR in indicating accommodative
facility … NPR provides a rapid, useful indicator of
accommodative function in children with CP.
Cerebral Palsy
Barca L, Cappelli FR, Di Giulio P, Staccioli S, Castelli E. Outpatient assessment of
neurovisual functions in children with Cerebral Palsy. Res Dev Disabil. 2010 Mar-
Apr;31(2):488-95. Epub 2009 Dec 5.
This study examined the feasibility of the Atkinson Battery for
Child Development for Examining Functional Vision to
evaluate neurovisual functions of children with
neurodevelopmental disorders in outpatient setting.
….Overall, 73% patients had impairments at the assessment
protocol, the majority of which presenting difficulties on both
visuoperceptual and visuospatial tasks (79%). Subgroups of
participants presented similar profiles of impairments with
spared basic visuocognitive abilities and limitations in
visuoperceptual and visuospatial domains. …
9

10. Cerebral Palsy
• Saunders KJ, Little JA, McClelland JF, Jackson AJ. Profile of refractive errors in cerebral
palsy: impact of severity of motor impairment (GMFCS) and CP subtype on refractive
outcome. Invest Ophthalmol Vis Sci. 2010 Jun;51(6):2885-90. Epub 2010 Jan 27.
To describe refractive status in children and young adults with cerebral palsy
(CP) and relate refractive error to standardized measures of type and
severity of CP impairment and to ocular dimensions. … A significantly higher
prevalence and magnitude of refractive error was found in the CP group
compared to the control group. … There was no relation between the
presence or magnitude of spherical refractive errors in CP and the level of
motor impairment, intellectual impairment. Higher spherical refractive errors
were significantly associated with the nonspastic CP ment, or the presence of
communication difficulties. subtype. The presence and magnitude of
astigmatism were greater when intellectual impairment was more severe,
and astigmatic errors were explained by corneal dimensions. …. High
refractive errors are common in CP, pointing to impairment of the
emmetropization process. ….
Cerebral Palsy
McClelland JF, Parkes J, Hill N, Jackson AJ, Saunders KJ.
Accommodative dysfunction in children with cerebral
palsy: a population-based study. Invest Ophthalmol Vis
Sci. 2006 May;47(5):1824-30.
CONCLUSIONS: Brain injury such as that present in CP has a
significant impact on accommodative function. These findings
have implications for the optometric care of children with CP
and inform our understanding of the impact of early brain
injury on visual development.
Cerebral Palsy
Ross LM, Heron G, Mackie R, McWilliam R, Dutton GN.
Reduced accommodative function in dyskinetic cerebral palsy: a
novel management strategy. Dev Med Child Neurol. 2000
Oct;42(10):701-3. Links
A 9-year-old boy with dyskinetic cerebral palsy secondary to neonatal
encephalopathy is described. He presented with blurring of near vision
which had begun to impact on his school work. Objective assessment of
accommodation showed that very little was present, although
convergence was almost normal. The near-vision symptoms were
completely removed and reading dramatically improved with the
provision of varifocal spectacles. Varifocal lenses provide an
optimal correction for far, intermediate (i.e. for computer
screens), and near distances (i.e. for reading). Managing this type
of patient with varifocal spectacles has not been previously reported. It is
clearly very important to prescribe an optimal spectacle correction to
provide clear vision to optimize learning.
10

11. Down Syndrome
• What is it?
• What is it’s etiology?
• What is it’s prevalence/incidence?
• What are it’s physical/visual characteristics?
Down Syndrome
• Langdon Down 1866
• “Mongolism” no longer used
• Most common genetic anomaly
• Variable levels of ability & disability
11

12. Down Syndrome
• Down syndrome is the most commonly occurring genetic
condition. One in every 800 to 1,000 live births is a child
with Down syndrome, representing approximately 5,000+
births per year in the United States alone. Today, Down
syndrome affects more than 350,000 people in the United
States.
Down Syndrome Prevalence/Incidence
• 1 in 800-1000 live births
• 1 in 12 for older mothers (>=49yrs of age)
• Most babies with Down syndrome born to younger
mothers (80% born to moms younger than 35)
• Most frequently encounter “viable” genetic anomaly
• Most frequently encounter “special” patient
• Prevalence increasing (improved survival rates)
http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm
Down Syndrome Etiology
• Genetics
• 95% demonstrate non-disjunction of one
chromosome during meiosis (Trisomy 21)
• 2-4% mosaicism
• 3-4% Robertsonian translocation of the long arm
of chromosome 21 to another chromosome
usually #14
• risk of having a second child with Trisomy 21 or
mosaic Down syndrome is 1 in 100. The risk is higher
if one parent is a carrier of a translocated cell.
12

13. Down Syndrome Etiology
• Genetics: Trisomy 21
Down Syndrome Physical Features
• Short stature, brachycephalic skull, flat occiput
• Low-set ears, flat nasal bridge, protruding tongue (big tongue,
small oral cavity)
• Dental anomalies, short stubby hands/feet
• Dry skin, abdominal protuberance
• Alzheimer’s (25%), heart defects, MR, leukemia
• Life expectancy 55 yrs
Down Syndrome Ocular Features
• Oblique palpebral fissures, strabismus
• Moderate/high refractive error
• Keratoconus, broad epicanthal folds
• Brushfields spots 85% (pale, grey irregular discolorations in the mid-
periphery of the iris, connective tissue condensations of the anterior stromal layer.
Confused with Wolfflin nodules. Smaller, more peripherally placed, last role of
the iris, not in iris crypt/furrow)
13

14. Down Syndrome Ocular Features
• Iris hypoplasia
• Spoked vessel pattern at optic disc
(makes disc appear hyperemic)
• Retinal pigment epithelial disturbances at disc margin (New
finding: Wesson & Maino) with 8% PRE drop out
Down Syndrome Visual Acuity
(Wesson & Maino)
• 76% required Teller Acuity Cards or OKN drum
• 3% responded to Snellen
• Have multiple VA assessment tools available
Down Syndrome Refractive Error
• Many more hyperopes than myopes, but those with
myopia tended to have higher magnitudes
• Up to 49% may exhibit some astigmatism
14

15. Down Syndrome Binocular
Characteristics
• 23-44% have strabismus
• (Wesson & Maino) The individual with Down syndrome and
strabismus shows a constant unilateral esotropia of less
than 20 PD at near. (Greatly reduced number show ET at distance)
It’s suggested that the etiology is a high ACA ratio rather
that of a basic ET
Down Syndrome Ocular Health
• Blepharitis
• Keratoconus
• Cataract
(age related, noted in DS children over
the age of 9, flake appearance)
• Conditions associated with
high myopia
From: http://medgen.genetics.utah.edu/photographs.htm
Down Syndrome
15

16. Down Syndrome
From: http://www.ndss.org/aboutds/aboutds.html#Down
Children with Down syndrome have been included in regular academic
classrooms in schools across the country. In some instances they are
integrated into specific courses, while in other situations students are
fully included in the regular classroom for all subjects. The degree of
mainstreaming is based in the abilities of the individual; but the trend is
for full inclusion in the social and educational life of the community.
What’s New in Down Syndrome
Al-Bagdady M, Stewart RE, Watts P, Murphy PJ, Woodhouse JM. Bifocals
and Down's syndrome: correction or treatment? Ophthalmic Physiol
Opt. 2009 Jul;29(4):416-21. Epub 2009 May 11.
Accommodation is reduced in approximately 75% of children with
Down's syndrome (DS). Bifocals have been shown to be beneficial and
they are currently prescribed regularly.. … Bifocals are an effective
correction for the reduced accommodation in children with DS and also
act to improve accommodation with a success rate of 65%. ….
What’s New in Down Syndrome
Haugen OH, Hovding G, Eide GE. Biometric measurements of the eyes in teenagers and
young adults with Down syndrome.Acta Ophthalmol Scand. 2001 Dec;79(6):616-25.
CONCLUSIONS: Thinning of the corneal stroma
may account for the steeper cornea and the high
frequency of astigmatism in Down syndrome due to
lower corneal rigidity. It may also be of etiological
importance to the increased incidence of
keratoconus in Down syndrome.
16

17. Haugen OH, Hovding G, Lundstrom I.Refractive development in children
with Down's syndrome: a population based, longitudinal study.Br J Ophthalmol.
2001 Jun;85(6):714-9.
CONCLUSION: A stable, low grade hypermetropia was
significantly correlated with a normal accommodation.
Accommodation weakness may be of aetiological
importance to the high frequency of refractive errors
encountered in patients with Down's syndrome. A striking
right-left specificity in the oblique astigmatic eyes suggests
that mechanical factors on the cornea from the upward
slanting palpebral fissures may be a major aetiological
factor in the astigmatism.
Stewart RE, Woodhouse JM, Cregg M, Pakeman VH. Association
between accommodative accuracy, hypermetropia, and strabismus
in children with Down's syndrome Optom Vis Sci. 2007
Feb;84(2):149-55.
CONCLUSIONS: This study demonstrates the marked association
between under-accommodation, hypermetropia, and strabismus in
children with Down's syndrome. No causal relation can be
demonstrated with these data, but findings suggest that the link
between under-accommodation and hypermetropia (and between
accurate accommodation and emmetropia) is present in early
infancy.
Haugen OH, Hovding G.Strabismus and binocular function in children with
Down syndrome. A population-based, longitudinal study.Acta Ophthalmol
Scand. 2001 Apr;79(2):133-9.
CONCLUSIONS: The majority of the Down syndrome
children with strabismus have an acquired esotropia and
hence a potential for binocularity. Hypermetropia and
accommodation weakness are probably important
factors in esotropia in Down syndrome patients.
17

18. Stewart RE, Margaret Woodhouse J, Trojanowska LD. In
focus: the use of bifocal spectacles with children with Down's
syndrome.Ophthalmic Physiol Opt. 2005 Nov;25(6):514-22
CONCLUSIONS: Bifocals confer benefit to children with
Down's syndrome who under-accommodate, both directly
(better focusing through the bifocal) and indirectly (by
encouraging improved accommodation through the
distance part of the lens). Based on the results of this study,
eye examinations of children with Down's syndrome should
routinely include a measure of accommodation at near, and
bifocal spectacles should be considered for those who show
under-accommodation.
Fragile X Syndrome
• What is it?
• What is it’s etiology?
• What is it’s prevalence/incidence?
• What are it’s physical/visual characteristics?
18

19. Fragile X Syndrome
• 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 8000 males, 1 in 4000 females
• 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.)
Fragile X Syndrome
• 6.2% of institutionalized males
• 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
19

20. Fragile X Syndrome Characteristics
• Connective tissue anomalies
• Hyperextensible joints
• Mitral valve prolapse
• Prognathism
• Facial asymmetry
• Prominent forehead
• Flat feet
Fragile X Syndrome Characteristics
• Connective tissue anomalies
• Hyperextensible joints
• Mitral valve prolapse
• Prognathism
• Facial asymmetry
• Prominent forehead
• Flat feet
Fragile X Syndrome Characteristics
• Connective tissue anomalies
• Hyperextensible joints
• Mitral valve prolapse
• Prognathism
• Facial asymmetry
• Prominent forehead
• Flat feet
20

21. Fragile X Syndrome Characteristics
• Hand calluses
• Palmer creases
• Hallucal creases
• Hypotonia
• Doliocephaly
• Pectus excavatum
Fragile X Syndrome Characteristics
Most important!!
• Large prominent ears
• Long narrow face
• Macro-orchidism (80% affected
men)
Other: hypotonia, seizures, recurrent otitis
media
Fragile X Syndrome Characteristics
Most important!!
• Large prominent ears
• Long narrow face
• Macro-orchidism (80% affected
men)
Other: hypotonia, seizures, recurrent otitis
media
21

22. Fragile X Syndrome Characteristics
Most important!!
• Large prominent ears
• Long narrow face
• Macro-orchidism (80% affected
men)
Other: hypotonia, seizures, recurrent otitis
media
Fragile X Syndrome Characteristics
• First demonstrated genetic etiology of learning disability
• Variable mental retardation
• Math, language delay
• Sensory integration problems
• Attentional deficits
• Psychiatric illnesses (shy)
Fragile X Syndrome Characteristics
Gaze Avoidance
How do you conduct an examination on an individual that
won’t look at you?
22

23. Physical Characteristics
From:
http://www.fragilexohio.org/
basic.html
Fragile X Syndrome Diagnosis
Genetics
• 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)
23

24. Fragile X Syndrome Ocular Findings
• Strabismus (33-50%)
• Nystagmus
• Refractive error
• Accommodative dysfunctions?
• Oculomotor anomalies
• Ocular Health?
• Perceptual dysfunction
Fragile X Syndrome Check List
Feature Not Present Borderline Present
Score 0 1 2
Mental Retardation
Hyperactivity
Short Attention Span
Tactile Defensiveness 45% of those with a score of 16 or higher
Hand Flapping are positive for fra X
Hand Biting
Poor Eye Contact 60% of those with a score of 19 or higher
Perserverative Speech are positive for fra X
Hyperextensible Joints
Large Ears
Large Testicles
Simian Crease
Family Hx MR
What’s New in Fragile X Syndrome
• Hatton DD, Buckley E, Lachiewicz A, Roberts J. Ocular status of boys with fragile X syndrome: a
prospective study. J AAPOS. 1998 Oct;2(5):298-302.
These results suggest that previous reports of high rates of vision problems,
particularly strabismus, in boys with fragile X syndrome may have resulted from
selection bias. Although we did observe a higher prevalence of strabismus than
that found in the general population (8% vs 0.5% to 1%), the proportion of
children having strabismus in our sample was much smaller than that reported in
other studies of children with fragile X syndrome (30% to 40%). However, 17%
of the sample did have significant refractive errors. In addition to evaluating the
ocular motility of children with fragile X syndrome, cycloplegic refraction
should also be performed to determine whether refractive problems are present .
24

25. What’s New in Fragile X Syndrome
Block SS, Brusca-Vega R, Pizzi WJ, Berry-Kravis E, Maino DM, Treitman TM.Cognitive and visual
processing skills and their relationship to mutation size in full and premutation female fragile X
carriers.Optom Vis Sci. 2000 Nov;77(11):592-9.
BACKGROUND: The fragile X gene contains an unstable trinucleotide (CGG) repeat
that expands as it is passed from female carriers to the affected offspring. Obligate
female carriers may have a premutation or full mutation genotype. METHODS: In this
study, fragile X premutation and full mutation female carriers were compared on three
tasks of visual processing and cognitive skills. RESULTS: In each case, there were
significant differences between premutation and full mutation carriers on a number of the
subtests or the full test scores. Specifically, full mutation female carriers performed
more poorly in visual-motor processing and analysis-synthesis on the Woodcock-
Johnson Psycho-Educational Battery-Revised, The Developmental Test of Visual
Motor Integration, and on five of the seven subtests of the Test of Visual-Perceptual
Skills. Regression analyses revealed significant negative correlations between
mutation size and cognitive ability. CONCLUSIONS: These findings have implications
in educational planning decisions for full mutation carriers who may present with specific
cognitive deficits.
What’s New in Fragile X Syndrome
Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a
controlled trial. Berry-Kravis E, Krause SE, Block SS, Guter S, Wuu J, Leurgans S, Decle P, Potanos
K, Cook E, Salt J, Maino D, Weinberg D, Lara R, Jardini T, Cogswell J, Johnson SA, Hagerman R. J
Child Adolesc Psychopharmacol. 2006 Oct;16(5):525-40.PMID: 17069542
Cognitive and visual processing skills and their relationship to mutation size in full and premutation
female fragile X carriers. Block SS, Brusca-Vega R, Pizzi WJ, Berry-Kravis E, Maino DM, Treitman
TM. Optom Vis Sci. 2000 Nov;77(11):592-9.PMID: 11138833
The fragile X female: a case report of the visual, visual perceptual, and ocular health findings. Amin VR,
Maino DM. J Am Optom Assoc. 1995 May;66(5):
Optometric findings in the fragile X syndrome. Maino DM, Wesson M, Schlange D, Cibis G, Maino JH.
Optom Vis Sci. 1991 Aug;68(8):
Mental retardation syndromes with associated ocular defects. Maino DM, Maino JH, Maino SA.
J Am Optom Assoc. 1990 Sep;61(9):707-16.
Ocular anomalies in fragile X syndrome. Maino DM, Schlange D, Maino JH, Caden B.
J Am Optom Assoc. 1990 Apr;61(4):316-23
Autism
The incidence of autism has increased from 1
in 10,000 in the 1970s to 1 in 150 today, an
increase of over 6,000%. Many more
children have been diagnosed with other
neurodevelopmental disorders all considered
to be on the same spectrum including
Asperger's, ADHD/ADD, speech delay, and
many other developmental delays and
learning disabilities.
25

26. Autism
Do Parents cause their children to be autistic ?
There are autistic children born to parents who do not fit the autistic parent personality pattern.
Parents who do fit the description of the supposedly pathogenic parent have normal, non-autistic
children.
Frequently siblings of autistic children are normal.
Autistic children are behaviorally unusual "from the moment of birth." ***
There is a consistent ratio of three or four boys to one girl.
Virtually all cases of twins reported in the literature have been identical, with both twins
afflicted. ***
Autism can occur or be closely simulated in children with known organic brain damage. ***
The symptomatology is highly unique and specific.
There is an absence of gradations of infantile autism which would
create "blends" from normal to severely afflicted.
Autism Etiology
Yeast infections
Intolerance to specific food substances
(Gluten intolerance ("Leaky Gut Syndrome"/Casein intolerance causing intestinal permeability
and allowing improperly digested peptides to enter the bloodstream and cross the blood-
brain barrier which may mimic neurotransmitters and result in the scrambling of sensory
input. I've also heard "Leaky Gut Syndrome" described as lack of the beneficial bacteria that
aids digestion, and that the resulting matter in the bloodstream invokes an unnecessary
immune reaction)
Phenolsulphertransferase (PST) deficiency--theory that some with autism are low on sulphate or
an enzyme that uses this, called phenol-sulphotransferase-P. This means that they will be
unable to get rid of amines and phenolic compounds once they no longer have any use for
them. These then stay in their body and may cause adverse effects, even in the brain.
Autism Etiology
Brain injury
Constitutional vulnerability
Developmental aphasia
Deficits in the reticular activating system
An unfortunate interplay between psychogenic and neurodevelopmental factors
Structural cerebellar changes
Genetic causes
Viral causes
Immunological ties
Vaccines
Seizures
26

27. Autism Etiology
My Goodness!
Maino DM, Viola, SG, Donati R. The Etiology of Autism. Optom Vis
Dev 2009:(40)3:150-156.
Autism Etiology
What the research
shows…
Autism
Impairment in social interactions
Impairment in communication
Restricted repertoire of activities
27

28. Autism
Asperger
Childhood Syndrome
Disintegrative
Disorder Autism
Rett Syndrome
Autism
Childhood
Disintegrative
Disorder
Autism
Cohly HH, Panja A. Immunological findings in autism. Int Rev Neurobiol. 2005;71:317-41.
Mercury and an infectious agent like the measles virus are currently two main candidate
“
environmental triggers for immune dysfunction in autism…”
“Studies showing elevated brain specific antibodies in autism support an autoimmune
Childhood Viruses may initiate the process but the subsequent activation of cytokines is the
mechanism.
Disintegrative associated with autism. Virus specific antibodies associated with measles
damaging factor
Disorder been demonstrated in autistic subjects. Environmental exposure to mercury is
virus have
believed to harm human health possibly through modulation of immune homeostasis. A
mercury link with the immune system has been postulated due to the involvement of
postnatal exposure to thimerosal, a preservative added in the MMR vaccines.”
28

29. Autism
Adams JB, George F, Audhya T.Abnormally high plasma levels of
vitamin b(6) in children with autism not taking supplements compared
to controls not taking supplements. J Altern Complement Med. 2006 Jan-
Feb;12(1)
Childhood
Disintegrative
Conclusions: Total vitamin B(6) is abnormally high in autism, consistent
Disorder
with previous reports of an impaired pyridoxal kinase for the conversion of
pyridoxine and pyridoxal to PLP. This may explain the many published
studies of benefits of high-dose vitamin B(6) supplementation in some
children and adults with autism.
Autism
Strambi M, Longini M, Hayek J, Berni S, Macucci F, Scalacci E,
Vezzosi P. Magnesium profile in autism. Biol Trace Elem Res. 2006
Feb;109(2):
Childhood
The aim of the present study was to determine and compare plasma and erythrocyte
Disintegrative
concentrations of magnesium in 12 autistic children (10 boys, 2 girls), 17 children with
other autistic spectrum disorders (14 boys, 3 girls), 5 girls with classic Rett syndrome, and
Disorder
14 normal children (7 boys, 7 girls) of the same age. No differences in intracellular Mg
were found between controls and pathological subjects; however, autistic children and
children with other autistic spectrum disorders had significantly lower plasma
concentrations of Mg than normal subjects (p=0.013 and p=0.02, respectively). Although
our study population was small, we conclude that children with autistic
spectrum disorders require special dietary management. If these cases are diagnosed at an
early stage, they can be helped through diet.
Autism
Palmer RF, Blanchard S, Stein Z, Mandell D, Miller C Environmental
mercury release, special education rates, and autism disorder: an
ecological study of Texas. Health Place. 2006 Jun;12(2)
Childhood
The association between environmentally released mercury, special education and autism rates in
Texas was investigated using data from the Texas Education Department and the United States
Disintegrative
Environmental Protection Agency. A Poisson regression analysis adjusted for school district
Disorder
population size, economic and demographic factors was used. There was a significant increase in the
rates of special education students and autism rates associated with increases in environmentally
released mercury. On average, for each 1,000 lb of environmentally released mercury, there was
a 43% increase in the rate of special education services and a 61% increase in the rate of
autism. The association between environmentally released mercury and special education rates were
fully mediated by increased autism rates. This ecological study suggests the need for further research
regarding the association between environmentally released mercury and developmental disorders
such as autism. These results have implications for policy planning and cost analysis.
29

30. Autism
Demicheli V, Jefferson T, Rivetti A, Price D. Vaccines for measles,
mumps and rubella in children. Cochrane Database Syst Rev. 2005 Oct
19;(4)
MAIN RESULTS: MMR was associated with a lower incidence of upper respiratory tract infections,
Childhood
a higher incidence of irritability, and similar incidence of other adverse effects compared to placebo.
Disintegrative
The vaccine was likely to be associated with benign thrombocytopenic purpura, parotitis, joint and
limb complaints, febrile convulsions within two weeks of vaccination and aseptic meningitis
Disorder
(mumps)… Exposure to MMR was unlikely to be associated with Crohn's disease,
ulcerative colitis, autism or aseptic meningitis (mumps). We could not identify studies
assessing the effectiveness of MMR that fulfilled our inclusion criteria even though the impact of
mass immunisation on the elimination of the diseases has been largely demonstrated. AUTHORS'
CONCLUSIONS: The design and reporting of safety outcomes in MMR vaccine studies, both pre-
and post-marketing, are largely inadequate. The evidence of adverse events following immunization
with MMR cannot be separated from its role in preventing the target diseases.
Autism
Zimmerman RK, Wolfe RM, Fox DE, Fox JR, Nowalk MP, Troy JA,
Sharp LK. Vaccine criticism on the World Wide Web .J Med Internet Res.
2005 Jun 29;7(2):Jun 29;7(2):e17.
RESULTS: The most common characteristic of vaccine-critical websites was the inclusion of statements
linkingChildhoodwith specific adverse reactions, especially idiopathic chronic diseases such as
vaccinations
multiple sclerosis, autism, and diabetes. Other common attributes were links to other vaccine-critical
Disintegrative
websites; charges that vaccines contain contaminants, mercury, or "hot lots" that cause adverse events;
claims Disorder provide only temporary protection and that the diseases prevented are mild; appeals
that vaccines
for responsible parenting through education and resisting the establishment; allegations of conspiracies
and cover-ups to hide the truth about vaccine safety; and charges that civil liberties are violated through
mandatory vaccination. CONCLUSIONS: Vaccine-critical websites frequently make serious allegations.
With the burgeoning of the Internet as a health information source, an undiscerning or incompletely
educated public may accept these claims and refuse vaccination of their children. As this occurs, the
incidence of vaccine-preventable diseases can be expected to rise.
Autism US FDA Statement
IOM Report: No Link Between Vaccines and Autism
By Michelle Meadows
There is no link between autism and the measles-mumps-rubella (MMR) vaccine or the vaccine
preservative thimerosal, according to a report released by the Institute of Medicine's (IOM)
Immunization Safety Review Committee.
Childhood
The report, released in May 2004, was prepared by a committee of independent experts
Disintegrative
established by the IOM in 2001 at the request of the Centers for Disease Control and Prevention
Disorder
(CDC) and the National Institutes of Health (NIH) to evaluate evidence on potential links
between childhood vaccines and health problems. The agencies explored the issue because of
growing controversy and questions from the public about vaccine safety.
… Other concerns the committee looked at include the use of thimerosal, a mercury-based
compound used as a vaccine preservative, because many forms of mercury are known to
damage the nervous system in high doses.
http://www.fda.gov/fdac/features/2004/504_iom.html
30

31. Autism
Siklos S, Kerns KA.
Assessing the diagnostic experiences of a small sample of parents of
children with autism spectrum disorders.
Res Dev Disabil. 2006 Jan 24
Childhood
Disintegrative
Although no Canadian studies have been conducted, studies suggest parents of children
with autism experience difficulties obtaining a diagnosis for their child. Fifty-six parents of
Disorder
children with autism completed three questionnaires providing information on the families'
demographics, parents' experiences throughout the diagnostic process, and their child's
autistic symptomatology. These parents experienced significant difficulties obtaining a
diagnosis for their child. Parents saw an average of 4.5 professionals, and waited almost 3
years to receive a diagnosis following their first visit to a professional regarding their
child's development. The impact of autistic symptomatology on
the diagnostic process is discussed.
Autism
Thompson WW, Price C, Goodson B, Shay DK, Benson P, Hinrichsen
VL, et al. Early thimerosal exposure and neuropsychological outcomes at 7
to 10 years. N Engl J Med. 2007 Sep 27;357(13):1281-92
Childhood
CONCLUSIONS: Our study does not support a causal association between
Disintegrative
early exposure to mercury from thimerosal-containing vaccines and immune
Disorder
globulins and deficits in neuropsychological functioning at the age of 7 to
10 years.
Autism
Andrew Wakefield (born 1956) is a British former surgeon and researcher
best known for his discredited work regarding the MMR vaccine and its
claimed connection with autism and inflammatory bowel disease. Wakefield
was the lead author of a 1998 study, published in The Lancet, which
Childhood
reported bowel symptoms in twelve children diagnosed with autism
Disintegrative
spectrum disorders, to which the authors suggested a possible link with the
Disorder
MMR vaccine. Though stating "We did not prove an association between
measles, mumps, and rubella vaccine and the syndrome described," the
paper tabulated parental allegations, and adopted these allegations as fact
for the purpose of calculating a temporal link between receipt of the vaccine
and the first onset of what were described as "behavioural symptoms“.
31

32. Autism
Dr Andrew Wakefield struck off medical register
Andrew Wakefield, the doctor who triggered the MMR vaccine scare, has been struck off the medical register.
After nearly three years of formal investigation by the General Medical Council (GMC), Dr Wakefield has been
found guilty of serious professional misconduct over “unethical” research that sparked unfounded fears that the
vaccine was linked to bowel disease and autism. Parents were advised yesterday that it was “never too late” to
Childhood
give their children the triple vaccine to protect against measles, mumps and rubella, as the case drew to a close….
The Disintegrative
decision marks the culmination of the longest medical misconduct hearing in the GMC’s 150-year history,
which has been going on since July 2007. …
Disorder
Announcing the final verdicts, Surendra Kumar, chair of the GMC’s fitness to practise panel, said that Dr
Wakefield had been “irresponsible”, “misleading” and “dishonest”, in the way in which he carried out and
presented the study, which involved carrying out unnecessary and invasive tests on children without official
permission.
The Lancet, which had withdrawn contested parts of the paper in 2004, subsequently retracted the article in full.
Dr Wakefield, who moved to America in 2001
http://www.timesonline.co.uk/tol/news/uk/article7134893.ece
Summary
Autism?
Mental Retardation without Specific Etiology
• Most frequently encountered form of MR
• 4000 known Mendelian Characteristics in Man
http://www.ncbi.nlm.nih.gov/Omim/
• 10 times that are unknown!
32

33. Mental Retardation Classification
Classification IQ
• Mild/Educable Mentally Handicapped 50-70
• Moderate/Trainable Mentally Handicapped 35-55
• Severe 20-40
• Profound below 20
Acquired/Traumatic Brain Injury
Neuroplasticity
Maino D. Neuroplasticity: Teaching an Old Brain New Tricks. Rev Optom
2009. 46(1):62-64,66-70.
(http://www.revoptom.com/continuing_education/tabviewtest/lessonid/106025/)
Acquired/Traumatic Brain Injury
Neuroplasticity & Rehabilitation
• Use it or lose it. If you do not drive specific brain functions, functional
loss will occur.
• Use it and improve it. Therapy that drives cortical function enhances that
particular function.
• Specificity. The therapy you choose determines the resultant plasticity and
function.
• Repetition matters. Plasticity that results in functional change requires
repetition.
• Intensity matters. Induction of plasticity requires the appropriate amount
of intensity.
33

34. Acquired/Traumatic Brain Injury
Neuroplasticity & Rehabilitation
• Time matters. Different forms of plasticity take place at different times
during therapy.
• Salience matters. It has to be important to the individual.
• Age matters. Plasticity is easier in a younger brain, but is also possible in
an adult brain.
• Transference. Neuroplasticity, and the change in function that results from
one therapy, can augment the attainment of similar behaviors.
• Interference. Plasticity in response to one experience can interfere with the
acquisition of other behaviors.
Kleim JA, Jones TA. Principles of experience-dependent neural plasticity: implications for
rehabilitation after brain damage. J Speech Lang Hear Res 2008 Feb;51(1):S225-39.
Acquired/Traumatic Brain Injury
Neuroplasticity & Rehabilitation
• Time matters. Different forms of plasticity take place at different times
during therapy.
• Salience matters. It has to be important to the individual.
• Age matters. Plasticity is easier in a younger brain, but is also possible in
an adult brain.
• Transference. Neuroplasticity, and the change in function that results from
one therapy, can augment the attainment of similar behaviors.
• Interference. Plasticity in response to one experience can interfere with the
acquisition of other behaviors.
Kleim JA, Jones TA. Principles of experience-dependent neural plasticity: implications for
rehabilitation after brain damage. J Speech Lang Hear Res 2008 Feb;51(1):S225-39.
Acquired/Traumatic Brain Injury
Post Trauma Vision Syndrome Symptoms/Signs
• Double vision
• Headaches
• Blurred vision
• Dizziness or nausea
• Light sensitivity
• Attention or concentration difficulties
34

35. Acquired/Traumatic Brain Injury
• Staring behavior (low blink rate)
• Spatial disorientation
• Losing place when reading
• Can’t find beginning of next line when
reading
• Comprehension problems when reading
• Visual memory problems
Acquired/Traumatic Brain Injury
• Pulls away from objects when they are
brought close to them
• Exotropia or high exophoria
• Accommodative insufficiency
• Convergence insufficiency
• Poor fixations and pursuits
• Unstable peripheral vision
Acquired/Traumatic Brain Injury
• Associated neuromotor difficulties with
balance, coordination and posture
• Perceived movement of stationary objects
35

36. Acquired/Traumatic Brain Injury
• Associated neuromotor difficulties with
balance, coordination and posture
• Perceived movement of stationary objects
Acquired/Traumatic Brain Injury
Visual Midline Shift Syndrome
• Dizziness or nausea
• Spatial disorientation
• Consistently stays to one side of hallway or
room
• Bumps into objects when walking
Acquired/Traumatic Brain Injury
Visual Midline Shift Syndrome
• Poor walking or posture: leans back on
heels, forward, or to one side when walking,
standing or seated in a chair
• Perception of the floor being tilted
• Associated neuromotor difficulties with
balance, coordination and posture
36

37. Acquired/Traumatic Brain Injury
References
TBI a Major Cause of Disability
by Marc B. Taub, OD, FAAO, FCOVD
Clinical Oculomotor Training in Traumatic Brain
Injury by Kenneth J. Ciuffreda, OD, PhD, FAAO,
FCOVD-A, Diana P. Ludlam, BS, COVT, Neera
Kapoor, OD, MS, FAAO
Acquired/Traumatic Brain Injury
References
• Myopia and Accommodative Insufficiency
Associated with Moderate Head Trauma
by Steve Leslie, B Optom, FACBO, FCOVD
• Neuro-Optometry and the United States Legal
System
by Theodore S. Kadet, OD, FCOVD, R. E.
Bodkin, JD, MBA, Attorney-at-Law
Acquired/Traumatic Brain Injury
References
• Oculo-Visual Evaluation of the Patient with
Traumatic Brain Injury
by Maria Mandese, OD
• Traumatic Brain Injury and Binasal Occlusion
by Alissa Proctor, OD
http://www.covd.org/Home/OVDJournal/OVD401/tabid/263/Default.aspx
37

38. Summary
• Down Syndrome
• more hyperopes than myopes
• when myopia is present it is in the
moderate to high range
• child with strabismus is a constant
unilateral 20 PD ET probably due to a high
ACA
• numerous ocular & systemic health
problems
Summary
• Cerebral Palsy
• decreased VA compared to those with DS, Fra
X or MR without specific etiology
• significant hyperopia frequently encountered
• More hyperopes than myopes but the average
amount of myopia found is greater and
fluctuates widely over time
• significant ocular & systemic health findings
Summary
• Fragile X Syndrome
• moderate to high amounts of refractive
error
• strabismus
• perceptual problems
• very variable abilities
• no associated ocular disease
38

39. Summary
• Mental Retardation without specific etiology
• refractive error typical of what you’d find in
any practice
• higher incidence of strabismus
• routine examination procedures can be used
Summary
• Acquired/Traumatic Brain Injury
• New way of thinking about neuro/cortical
plasticity
• Follow sound rehabilitation principles
• Post Trauma Vision Syndrome
• OM, Acc, binocularity, perception affected
• Midline Visual Shift Syndrome
Summary
• All deserve optometric vision care
• If all you do is take a detailed case history, it’s probably
more than any have even attempted before
• Do not underestimate the power of glasses
• Be creative, use want you know, invent!
• Treat (optically, functionally, medically) because we do
it all!
39

40. Questions? Contact:
Dominick M. Maino, OD, MEd, FAAO,FCOVD-A
Professor, Pediatric/Binocular Vision Service
Illinois Eye Institute Illinois College of Optometry
3241 S. Michigan Ave. Chicago, Il. 60616
312-949-7280 (phone) 312-949-7660 (fax)
dmaino@ico.edu
www.ico.edu www.nw.optometry.net
MainosMemos.blogspot.com
40