D. Maino: Visual Diagnosis and Care of the Patient with Special Needs 06-09-16

Visual Diagnosis and
Care of the Patient with
Special Needs
Syndromes

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.com
www.ico.edu LyonsFamilyEyeCare.com

Syndromes
•Cerebral Palsy
•Down Syndrome
•Fragile X Syndrome
•Autism
•Mental Retardation/Intellectual Disability
•Acquired/Traumatic Brain Injury
•Mental Illness

Cerebral Palsy
• What is it?
• What is its etiology?
• What is its
prevalence/incidence?
• How is it classified?
• What are its visual
characteristics?

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

•Postnatal
•Trauma
•Infection
•Intracranial hemorrhage
•Coagulopathies

•The etiology of Cerebral Palsy is usually
a traumatic event that occurs BEFORE,
DURING or just AFTER birth. *****

• Low Birth weight and Premature Birth
• Disruption of Blood and Oxygen Supply to
the Developing Brain
• Infection Among Mothers
• Other: brain injuries from motor vehicle
crashes or falls, and infections (such as
meningitis)
From: http://www.cdc.gov/ncbddd/cp/data.html

Cerebral Palsy Incidence/Prevalence
• 1.5 to more than 4 per 1,000 live births
• About 1 in 323 children has been identified with
CP
• CP was more common among boys than girls.
• More common among Black children
• Hispanic and White children about equal

Cerebral Palsy Incidence/Prevalence
• 77.4% Spastic CP
• Over half (58.2%) of the children could walk
independently
• Many of the children with CP also had at least
one co-occurring condition—41% had co-
occurring epilepsy and 6.9% had co-occurring
ASD

Cerebral Palsy Classifications
•Spastic - 70-80%
•Dyskinetic/Athetoid - 10-
15%
•Ataxic - <5%
•Mixed

Cerebral Palsy
Taub M, Reddell A. Cerebral Palsy. In Taub M, Bartuccio M, Maino D.
(Eds) Visual Diagnosis and Care of the Patient with Special Needs;
Lippincott Williams & Wilkins. New York, NY;2012:21-30
Hemiplegia 10-20%
Diplegia 30-40%
Quadriplegia 10-15%
More likely to have oculo-visual problems

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
• Hyperopia present 3Xs
more than when compared
to myopia
• Wesson & Maino note:
• many more hyperopes
than myopes
• average amount of
significant myopia is
greater

Cerebral Palsy
• 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 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 Accommodation
Pansell T1
, Hellgren K, Jacobson L, Brautaset R, Tedroff K. The accommodative process in children with cerebral
palsy: different strategies to obtain clear vision at short distance. Dev Med Child Neurol. 2014 Feb;56(2):171-7.
doi: 10.1111/dmcn.12266. Epub 2013 Sep 4.
Children with CP exhibit problems in generating an appropriate
accommodative response. This can affect everyday living and reading
skills.
McClelland JF1
, 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.
significantly reduced accommodative responses

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
Invest Ophthalmol Vis Sci. 2010 Jun;51(6):2885-90. Epub 2010 Jan 27.
… A significantly higher prevalence and magnitude of refractive
error was found in the CP group compared to the control
group. … …. Higher spherical refractive errors were
significantly associated with the nonspastic CP …. 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
Saunders KJ, McClelland JF, Richardson PM, Stevenson M.
Clinical judgment of near pupil responses provides a useful indicator of focusing ability in children
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.
…….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. …

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
…. 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.

Cerebral Palsy
Interventions for
Oculomotor/Hand-eye dysfunction
Accommodative dysfunction
Vergence dysfunction
Strabismus
Amblyopia
Visual impairment

Down Syndrome
• What is it?
• What is its etiology?
• What is its prevalence/incidence?
• What are its physical/visual characteristics?
Life Goes On: Chris Burke

Down Syndrome
• John Langdon Down 1866
• “Mongolism” no longer used
• Most common genetic anomaly
• Variable levels of ability &
disability

Down Syndrome
• Down syndrome continues to be the most common
chromosomal disorder.
• 6,000 babies are born with Down syndrome, which is
about 1 in every 700 babies born.
• Between 1979 and 2003, the number of babies born with
Down syndrome increased by about 30%.
• Older mothers are more likely to have a baby affected by
Down syndrome than younger mothers..

Down Syndrome
At age 25, the risk of having a
baby with Down syndrome is 1 in
1,250.
At age 30, the risk is 1 in 1,000.
At age 35, the risk is 1 in 400.
http://www.marchofdimes.org/baby/down-syndrome.aspx#

Down Syndrome Prevalence/Incidence
• In 2002, about 1 out of every 1,000 children and teenagers (0 to 19
years old) living in the United States had Down syndrome. (83,000
children and teenagers)
• Researchers estimated that in 2008 about 1 out of every 1,200
people in the United States had Down syndrome.
• 250,700 children, teens, and adults were living with Down
syndrome in the United States in 2008

Down Syndrome
• Life expectancy in 1960 was about 10 years of
age
• In 2007 they lived to be about 47 years of age
• 50% of all babies born with Down syndrome have
a congenital heart defect
• Many used to die of pneumonia as well

Down Syndrome
• Hearing loss (up to 75% may be affected)
• Obstructive sleep apnea, (between 50 -75%)
• Ear infections (between 50 -70%)
• Eye diseases (up to 60%)
• Eye issues requiring glasses (50%)
• Intestinal blockage at birth requiring surgery
(12%)

Down Syndrome
• Hip dislocation (6%)
• Thyroid disease (4-18%)
• Anemia (3%)
• Iron deficiency anemia (10%)
• Leukemia (1%) in infancy or early childhood
• Hirschsprung disease (<1%)
• Poor functioning immune system
(http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3074212/)
From: http://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html

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.

Down Syndrome Etiology
• Genetics: Trisomy 21

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)

Down Syndrome Ocular Features
• Iris hypoplasia
• Spoked vessel pattern at optic disc
(makes disc appear hyperemic)
• Retinal pigment epithelial disturbances at disc margin
(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

Down Syndrome Binocular
Characteristics
• 23-44% have strabismus
• (Wesson & Maino) The individual with Down syndrome and
strabismus shows a constant unilateral esotropia of about
20 PD at near. (Greatly reduced number show ET at distance)
its 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
• Hyphema, Hypermature Cataract, Retinal
Detachment
From: http://medgen.genetics.utah.edu/photographs.htm

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%. ….

For a current review of Down syndrome see:
Woodhouse M. Maino D. Down Syndrome. In Taub M,
Bartuccio M, Maino D. (Eds) Visual Diagnosis and Care
of the Patient with Special Needs; Lippincott Williams
& Wilkins. New York, NY;2012:31-40.
Functional vision disorders: Hyperopia, accommodative
esotropia, accommodative insufficiency

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. …

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.

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,
… 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.

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.

Fragile X Syndrome
•What is it?
•What is its etiology?
•What is its prevalence/incidence?
•What are its physical/visual
characteristics?

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
Nucleotide repeated
sequence: CGG
230 to 4000 repeats
Fragile X
60 to 230 repeats
Carrier
5 to 54 repeats
Unaffected

Fragile X Syndrome
Nucleotide Repeat Diseases
Huntington's Disease
Various Ataxias (10 or more)
Myotonic Dystrophy

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

• Hand calluses
• Palmer creases
• Hallucal creases
• Hypotonia
• Doliocephaly
• Pectus excavatum

Most important!!
• Large prominent ears
• Long narrow face
• Macro-orchidism (80% affected
men)
Other: hypotonia, seizures, recurrent otitis
media

• First demonstrated genetic etiology of learning disability
• Variable mental retardation
• Math, language delay
• Sensory integration problems
• Attentional deficits
• Psychiatric illnesses (shy)

Gaze Avoidance
How do you conduct an examination on an individual that
won’t look at you?

Fragile X Syndrome Ocular Findings
• 25% of the children have clinically significant ocular findings
• Strabismus (8-50%)
• 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.
…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. …

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: …, 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. …

Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a contr
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 fr
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.

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

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

Autism
Autism
Asperger
Syndrome
Rett Syndrome
Childhood
Disintegrative
Disorder

Autism
Childhood
Disintegrative
Disorder

Autism
Childhood
Disintegrative
Disorder
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)
Conclusions: Total vitamin B(6) is abnormally high in autism, consistent
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
Childhood
Disintegrative
Disorder
Demicheli V, Jefferson T, Rivetti A, Price D. Vaccines for measles,
mumps and rubella in children. Cochrane Database Syst Rev. 2005 Oct
19;(4)
…Exposure to MMR was unlikely to be associated with Crohn's disease, ulcerative
colitis, autism or aseptic meningitis (mumps). … The evidence of adverse events following
immunization with MMR cannot be separated from its role in preventing the target diseases.

Autism
Childhood
Disintegrative
Disorder
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.
…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
Childhood
Disintegrative
Disorder
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.
http://www.fda.gov/fdac/features/2004/504_iom.html

Autism
Childhood
Disintegrative
Disorder
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
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
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
Childhood
Disintegrative
Disorder
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
CONCLUSIONS: Our study does not support a causal association between
early exposure to mercury from thimerosal-containing vaccines and
immune globulins and deficits in neuropsychological functioning at the age
of 7 to 10 years.

Autism
Childhood
Disintegrative
Disorder
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 reported bowel symptoms in twelve children diagnosed with autism
spectrum disorders, to which the authors suggested a possible link with the
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“.

Autism
Childhood
Disintegrative
Disorder
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
give their children the triple vaccine to protect against measles, mumps and rubella, as the case drew to a close….
The 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. …
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
Identical twin studies show that if one twin is affected, there is up to a
90 percent chance the other twin will be affected.
In families with one child with ASD, the risk of having a second child with the disorder
is approximately 5 percent, or one in 20.
http://www.ninds.nih.gov/disorders/autism/detail_autism.htm
The exact cause of autism is not known, but research has pointed to several possible factors, including
genetics (heredity); metabolic or neurological factors, certain types of infections,
and problems occurring at birth.
http://www.webmd.com/brain/autism/mental-health-autism?page=2#1

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!

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/)

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.

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.

Post Trauma Vision Syndrome Symptoms/Signs
• Double vision
• Headaches
• Blurred vision
• Dizziness or nausea
• Light sensitivity
• Attention or concentration difficulties

• 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

• 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

• Associated neuromotor difficulties with
balance, coordination and posture
• Perceived movement of stationary objects

Visual Midline Shift Syndrome
• Dizziness or nausea
• Spatial disorientation
• Consistently stays to one side of hallway or
room
• Bumps into objects when walking

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

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

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

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

Mental Illness
Schnell PH, Maino D, Jespersen R. Psychiatric Illness and Associated Oculo-visual Anomalies. In Taub M, Bartuccio
M, Maino D. (Eds) Visual Diagnosis and Care of the Patient with Special Needs; Lippincott Williams & Wilkins.
New York, NY;2012:111-124.
Depression; Bipolar; Schizophrenia; Anxiety/Panic
Attacks; Obessive Compulsive Disorder; Post
Traumatic Stress Disorder
Dual Diagnosis: DD with MI; Substance Abuse
with MI

Diagnosis
Assessment Techniques for Special
Populations
Use everything you know, be creative, and
trust your objective evaluation skills!

Diagnosis
• Preparing for the examination
• greet patient by name
• position yourself at patient’s eye level
• be on time
• consider patient’s wishes about family/friends in
exam room
• direct initial comments to patient
• treat patient as a person first, then as an
individual with a disability

Diagnosis
• Preparing for the examination
• speak clearly
• listen carefully
• use short command sentences
• “look here”
• “do this”
• “watch my light”

Treat the patient the way
you would want to be
treated!

The 10
Commandments of
Communicating with
People with
Disabilities
26 minutes

Remember the 10 Commandments
1.) Speak directly to the
person rather than thru a
companion or sign language
interpreter.
2.) Always offer to shake
hands when introduced.
3.) Always identify
yourself and others who are
with you when meeting
someone who is blind.
4.) If you offer assistance
wait until the offer is
accepted, then listen and
wait for instructions.
5.) Treat adults as adults.
6.) Do not lean against or
hand on someone's
wheelchair or cart.

Remember the 10 Commandments
7.) Listen attentively when
talking to people who have
difficulty speaking and wait
for them to finish.
8.) Place yourself at eye
level when talking to
someone in a wheelchair.
9.) Tap a person who is
deaf on the shoulder or
wave your hand to get their
attention.
10.) Relax. Don’t be
embarrassed if you use
common expressions that
seems torelate to a
person’s disability.

Case History
• Demographic Information
• Medical history including their disability
• typically taking many medications
• Visual history
• Educational history
• Rehabilitation history
• Vocational history
• Recreational history

Visual Acuity
•Use highest level possible
•binocular before monocular testing
•adaptive positioning
•use assistants, friends, family members
•limited window of opportunity
•randomize optotypes, use reinforcers
•test=game, be creative

Visual Acuity
• Snellen
• Broken Wheel
• HOTV
• Lea Symbols
• Cardiff Cards
• Teller Acuity Cards
• OKN
E
F P
T O Z
H O V T

Visual Acuity
• Snellen
• Broken Wheel
• HOTV
• Lea Symbols
• Cardiff Cards
• OKN

Visual Acuity
Cardiff Cards
Maggie Woodhouse, PhD
Preferential looking/vanishing optotypes
Children 1-3 years
Intellectual impairment
eleven visual acuity levels
Largest picture, 1m or 50cm, watch
gaze, end when 2 out of 3 are correct
for smallest picture

Visual Acuity
• Snellen
• Broken Wheel
• HOTV
• Lea Symbols
• Cardiff Cards
• OKN
YouTube Videos
https://www.youtube.com/watch?v=IJVWN123ZyI
Lea Gratings
https://www.youtube.com/watch?v=CsGkpygktQ4

Visual Acuity
Fix and follow, a short round Italian Guy!

Refractive Error
Mohindra Dynamic Retinoscopy
•lens bars, 50 cm working distance
•dark, pt looks at light
•neutralize primary meridians
•write in spherocyindrical form
•algebraically add a (-) minus 1.25 to the sphere

Refractive Error
• Cycloplegic
• spray (O’Brien Pharmacy
http://obrienrx.com/ophthalmology/)
•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)

Refractive Error
• Keratometry
• hand held electronic devices (Nidek)
• Placido’s disk
• keratoscope

Refractive Error
• Subjective Refraction
• Objective Refraction
• Autorefraction
• SPOT

Binocular Vision Assessment
• Observation
• Cover Test
• Bruckner
• Angle Kappa
• Hirschberg
• Krimsky

Incidence of Strabismus
CEREBRAL PALSY 15-60%
INTELLECTUAL
DISABILITY 16-40%
DOWN SYNDROME 41-75%
DEAFNESS 29%
NORMAL CHILDREN 2-4%
Observation
Cover Test
Bruckner
Angle Kappa
Hirschberg
Krimsky

• Observation
• Cover Test
• Bruckner
• Angle Kappa
• Hirschberg
• Krimsky Krimsky: Place prism before fixating eye

• Lang stereotest
• Random Dot E
• Worth 4 Dot
• MEM Nearpoint
Retinoscopy
• NPC
• Accommodative Facility
• Saccades/Pursuits

Ocular Health
•Hand held devices
•Slit lamp
•Tonopen/Perkins
•BIO/MIO/direct

Ocular Health
•Slit lamp
•Tonopen
•Perkins
•BIO/MIO/direct

Ocular Health
•Slit lamp
•Tonopen
•BIO/MIO/direct

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

Special Testing
• VEP, ERG, EOG
• Sweep VEP
• Ultrasound (A/B scan)
• TOVA
• Ober II

Special Testing
• VEP, ERG, EOG
• Sweep VEP
• TOVA
• Ober II
Ultrasound, B-Scan
CPT 76512 (contact B-scan);
Indications
Examination of the posterior portion
of the eye when direct view is
precluded by media opacities.
Evaluation of intraocular or orbital
masses.
For more info:
http://www.healthgate.co.uk/dp/dph.
0253.shtml

Special Testing
• VEP, ERG, EOG
• Sweep VEP
• TOVA
• Ober II
The Test of Variables of Attention
(T.O.V.A.®),
a 21.6 minute computerized continuous
performance test used by professionals in
the diagnosis and monitoring
of treatment of attention deficit disorder
(ADD)/attention deficit hyperactivity
disorder (ADHD) in children and adults.
The standardized test is well normed and
extremely helpful in predicting
responsiveness to treatment modality.
More info at: http://www.tova.net/

Assessment
• Working with incomplete or “fuzzy” clinical
data
• “Get over it!”
• Seek help
• Dr. Dominick Maino
• 312-949-7282
• dmaino@ico.edu

Treatment
• Refractive
•Patient’s cognitive level
•Patient’s motor ability
•Patient’s therapy goals
•Patient’s vocational goals
•Patient’s self abusive behaviors
•Living conditions
•Past success

Treatment
• When Do You Correct Refractive Error?
•Myopia > 1.00D
•Hyperopia > 2.00D
•WR Astig > 2.00D
•AR Astig > 1.00D
•Oblique Astig > 1.00D
•Anisometropia > 1.00D

Treatment
• Binocular Vision Dysfunction
• Strabismus
• Rx, VT, surgery
• Amblyopia
• Rx, VT
• Accommodation dysfunction
• Rx, VT
• Oculomotor anomalies
• Rx, VT

Treatment
Ocular Health
Treat as you
would any other
patient. May
even be more
aggressive in
your treatment

Treatment
Ocular Health
anterior segment:
lids, lashes
conjunctiva, cornea

Treatment
• Lens
• refer/treat optically
• cataract
• lenticonus
• Fundus/Optic nerve
• diagnose/refer

Treatment
•GLC
•Treat/Refer
•Many need
surgical intervention

Referral Resources
Developmental Disabilities Service
of the
Illinois Eye Institute
3241 S. Michigan Ave.
Chicago, Il. 60616
312-949-7280 (Pediatrics)

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!

Acknowledgements
I used pictures and other information from the following:
• http://www.ds-health.com/
• http://www.ndss.org/
• http://www.downsyn.com/pictures.html
• http://www.waycool.net/sarahphotos.htm
• http://www.nfxf.org/
• http://www.fragilexohio.org/basic.html

Acknowledgements
I used pictures and other information from the following:
• http://www.ncbi.nlm.nih.gov/Omim/
• http://www.lowesyndrome.org/
• http://www.apert.org/
• http://www.azstarnet.com/~tjk/fashome.htm
• http://info.med.yale.edu/genetics/ward/tavi/p00.html
• http://www.siue.edu/COSTUMES/

Questions? Contact:
Dominick M. Maino, OD, MEd, FAAO
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.LyonsFamilyEyeCare.com

D. Maino: Visual Diagnosis and Care of the Patient with Special Needs 06-09-16

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