visual diagnosis and care of patients with special needs: syndromes

Visual Diagnosis and Care of the Patient with Special

Needs

Syndromes/Genetic Anomalies/Brain Injury

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 OptometryIllinois Eye Institute

3241 S. Michigan Ave. Chicago, Il. 60616312-949-7280 (Voice) 312-949-7358 (fax)

[email protected] MainosMemos.com www.ico.edu LyonsFamilyEyeCare.com

Taub M, Bartuccio M, Maino D. (Eds) Visual Diagnosis and Care of the Patient with Special Needs. Lippincott, Williams & Wilkins. New York, NY;2012.

Steel G, Maino D. The Life Cycle Approach to Care for Patients with Special Needs.

Taub M, Reddell AS. Cerebral Palsy.

Woodhouse M. Maino D. Down Syndrome.

Berrry-Kravis E, Maino D. Fragile X

Coulter RA. Autism

Schnell PH, Maino D, Jespersen R. Psychiatric Illness and Associated Oculo-visual Anomalies.

Bartuccio M, Browing RT, Howell AC. ADHD

Ciuffreda K, Kapoor N. Acquired Brain Injury.

Maino D, Donati, R, Pang, Viola S, Barry S. Neuroplasticity.

Lran BS, Mayer DL. Vision Impairment and Brain Damage

Children with Special Needs

•Learning Disability•ADHD•Cerebral Palsy•Down Syndrome•Fragile X Syndrome

Children with Special Needs

•Autism•Mental Retardation/Intellectual

Disability•Acquired/Traumatic Brain Injury•Mental Illness/Psychiatric Illness

Learning Disabilities

Reading/DyslexiaDyscalculiaDysgraphia


Reading/Dyslexia

Reading disabilities common

Dyslexia rare


Reading/DyslexiaLanguage Based

Vision BasedCombination of Language/Vision


Dyscalculia (Math Disability)

3 and 6% of the population

Neurological Dyscalculia Deficits in working & short term memory

Congenital/hereditary (Gerstmann syndrome: Dyscalculia + Dysgraphia)


DysgraphiaWorking memory (orthographic coding)

Motor planningAttentional issues


ADHD/ADD EtiologyBrain Functioning

Heredity Exposure to Toxic Substances

Brain Trauma, Tumors, Strokes or DiseaseFunctional Vision Problems


ADHD/ADD Not Caused By:

DietHormones

Vestibular dysfunctionPoor parenting

Television


ADHD/ADD TreatmentMedication

PsychotherapyEducation or Training

A combination of treatmentsOculomotor therapy/Vision Therapy

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?

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

Something goes awry just before, during or just after birth:

Prenatal

Neonatal

Postnatal

Cerebral Palsy Incidence/Prevalence

• 764,000+ children and adults

• 500,000 children under age of 18

• 2-3 children out of 1,000 (as low as 2.3 per 1,000 to 3.6 per 1,000)

• 10,000 babies born each year

• 8,000 - 10,000 babies and infants are diagnosed per year


• Around 1,200 to 1,500 preschool-aged children are diagnosed per year

• births 10% of cases are acquired (trauma)

• Normal life spans, 40% live to age 40, many living into their senior years


• 75% of CP occurs during pregnancy , 5% during childbirth and/or 15% after birth up to age 3

• 80% the etiology is unknown

• The number of new cases have increased 25% during the past decade (1990’s)

• Average lifetime cost per person of $921,000 (in 2003 dollars)

Cerebral Palsy Classifications

• Spastic - 61% to 76.9%

• Dyskinetic/Athetoid - 10-15%

• Ataxic - <5%

• Mixed

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

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 InteractionTips

• Positioning

• Right tools (objective)

• No sudden movement

• No loud, unexpected noises

• Speak smoothly, soothingly, softly….if appropriate, sing to the patient!

• Smile, smile SMILE!!!

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 …..the majority of which presenting difficulties on both visuoperceptual and visuospatial tasks (79%).. …

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.

. … A significantly higher prevalence and magnitude of refractive error was found in the CP 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, …. 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.

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

….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.

Down Syndrome

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.

From: http://www.ndss.org/aboutds/aboutds.html#Down

Down Syndrome

• What is it?



• 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

Down Syndrome

From 1979 to 2003 the prevalence of Down syndrome increased by 31.1%, from 9.0 to 11.8 per 10,000 live births. In 2002 prevalence among children and adolescents aged 0 to 19 was 1 in 971, or approximately 83,400 children and adolescents living with Down syndrome in the Unites States.

Down Syndrome Prevalence/Incidence

• 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

You will see individual with Down Syndrome in Your Office

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 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) 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

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.

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.

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.

….Accommodation weakness may be of aetiological importance to the high frequency of refractive errors encountered in patients with Down's syndrome.

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.

….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.

…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 …….

Stewart RE, Woodhouse MJ, Trojanowska LD. In focus: the use of bifocal spectacles with children with Down's syndrome.Ophthalmic Physiol Opt. 2005 Nov;25(6):514-22

…….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 are it’s 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 1:600 in affected males1/2500-4000 males 1/7000-8000 females

female carriers 1/130-250 population

male carrier 1/250-800

10% of undiagnosed ID in males

3% of previously undiagnosed ID in females

Fragile X Syndrome Characteristics

• 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 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)

Fragile X Syndrome Ocular Findings

• Strabismus (33-50%)

• Nystagmus

• Refractive error

• Accommodative dysfunctions?

• Oculomotor anomalies

• Ocular Health?

• Perceptual dysfunction

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.

…observe a higher prevalence of strabismus than that found in the general population (8% vs 0.5% to 1…., 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.


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.

….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 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

Fragile X-associated tremor/ataxia syndrome (FXTAS)

reported in 33-40% of men older than 50 years and, less frequently (4-8%), in older women with premutations in the fragile X mental retardation (FMR1) gene.Clinical features (FXTAS): incontinence, impotence, cerebellar ataxia, peripheral neuropathy, autonomic dysfunction/orthostatic hypotension, severe intention tremor, and other signs of neurodegeneration (brain atrophy, memory loss and dementia, anxiety, depression, and irritability). Premature ovarian failure in 25% of women with premutations; this represents a 30-fold increase compared with the general population.

Autism

Factors such as younger age of diagnosis, broadening of diagnostic criteria, improvements in the availability of services, and better awareness of the disorder have all been attributed to the change in autism prevalence. However, recent epidemiological studies indicated that, while these factors do account for a portion of the change, they cannot account for all of the increase alone

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 VisDev 2009:(40)3:150-156.

Autism Etiology

What the research shows…

Autism

Impairment in social interactionsImpairment in communication

Restricted repertoire of activities

Autism

Autism

Asperger Syndrome

Rett Syndrome

ChildhoodDisintegrativeDisorder

Autism


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. http://www.fda.gov/fdac/features/2004/504_iom.html

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

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


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“.

Summary

Autism?

Mental Retardation without Specific Etiology

Most frequently encountered form of Intellectual Disability

4000 known Online Mendelian Inheritance in Man http://www.ncbi.nlm.nih.gov/omim

25% of the etiologies are unknown!

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

NeuroplasticityMaino 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 & RehabilitationUse 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 & RehabilitationTime 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 Disabilityby 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 Traumaby Steve Leslie, B Optom, FACBO, FCOVD

• Neuro-Optometry and the United States Legal Systemby Theodore S. Kadet, OD, FCOVD, R. E. Bodkin, JD, MBA, Attorney-at-Law


References

• Oculo-Visual Evaluation of the Patient with Traumatic Brain Injuryby Maria Mandese, OD

• Traumatic Brain Injury and Binasal Occlusionby Alissa Proctor, OD

http://www.covd.org/Home/OVDJournal/OVD401/tabid/263/Default.aspx

Questions? Contact:

Dominick M. Maino, OD, MEd, FAAO,FCOVD-AProfessor, 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)

[email protected]

www.ico.edu LyonsFamilyEyeCare.com

MainosMemos.com

visual diagnosis and care of patients with special needs: syndromes

Health & Medicine

cerebral palsy cerebral

cerebral palsy interactiontips

cerebral palsybarca

cerebral palsy saunders

maino d

common amongcp children

preschoolaged children

comparedto myopia wesson