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Visual Diagnosis and                                                                               Dominick M. Maino, O.D., M.Ed., F.A.A.O.,
                                                                                                                    F.C.O.V.D-A.
   Care of the Patient with                                                                                                Professor,
                                                                                                             Pediatrics/Binocular Vision Service
       Special Needs                                                                                            Illinois College of Optometry
                                                                                                                     Illinois Eye Institute
                                                                                                               3241 S. Michigan Ave. Chicago, Il. 60616
   Syndromes/Genetic Anomalies/Brain Injury                                                                     312-949-7280 (Voice) 312-949-7358 (fax)
                                                                                                                dmaino@ico.edu MainosMemos.com
                                                                                                               www.ico.edu LyonsFamilyEyeCare.com




                          Taub M, Bartuccio M, Maino D. (Eds)
                          Visual Diagnosis and Care of the Patient                                      Children with Special Needs
                          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.
                                                                                                 •Learning Disability
                          Woodhouse M. Maino D. Down Syndrome.

                          Berrry-Kravis E, Maino D. Fragile X                                    •ADHD
                          Coulter RA. Autism

                          Schnell PH, Maino D, Jespersen R. Psychiatric Illness and Associated
                          Oculo-visual Anomalies.
                                                                                                 •Cerebral Palsy
                          Bartuccio M, Browing RT, Howell AC. ADHD

                          Ciuffreda K, Kapoor N. Acquired Brain Injury.                          •Down Syndrome
                          Maino D, Donati, R, Pang, Viola S, Barry S. Neuroplasticity.

                          Lran BS, Mayer DL. Vision Impairment and Brain Damage
                                                                                                 •Fragile X Syndrome




         Children with Special Needs                                                                      Learning Disabilities

•Autism
•Mental Retardation/Intellectual                                                                      Reading/Dyslexia
 Disability                                                                                             Dyscalculia
•Acquired/Traumatic Brain Injury                                                                        Dysgraphia
•Mental Illness/Psychiatric Illness




                                                                                                                                                          1
Learning Disabilities                                         Learning Disabilities


    Reading/Dyslexia                                                    Reading/Dyslexia
                                                                             Language Based
                                                                               Vision Based
        Reading disabilities common
                                                                       Combination of Language/Vision
                      Dyslexia rare




                  Learning Disabilities                                         Learning Disabilities


     Dyscalculia (Math Disability)                                               Dysgraphia
               3 and 6% of the population                               Working memory (orthographic coding)
            Neurological Dyscalculia
                                                                                 Motor planning
   Deficits in working & short term memory                                      Attentional issues
Congenital/hereditary (Gerstmann syndrome: Dyscalculia + Dysgraphia)




                  Learning Disabilities                                         Learning Disabilities

       ADHD/ADD Etiology                                               ADHD/ADD Not Caused By:
            Brain Functioning                                                           Diet
                Heredity                                                             Hormones
       Exposure to Toxic Substances                                            Vestibular dysfunction
 Brain Trauma, Tumors, Strokes or Disease                                         Poor parenting
        Functional Vision Problems                                                   Television




                                                                                                               2
Learning Disabilities

       ADHD/ADD Treatment
                  Medication
                Psychotherapy
             Education or Training
          A combination of treatments
       Oculomotor therapy/Vision Therapy




                       Cerebral Palsy                                 Cerebral Palsy

•   What is it?                                   • Cerebral Palsy is a persistent, but not
•   What is it’s etiology?                          unchanging, disorder of movement and
•   What is it’s prevalence/incidence?              posture appearing in the early years of life
•   How is it classified?
                                                    due to traumatic or inflammatory brain
•   What are it’s visual characteristics?
                                                    damage.
                                                  • Affects virtually all motor systems
                                                  • Can be acquired




               Cerebral Palsy          Etiology           Cerebral Palsy     Incidence/Prevalence


Something goes awry just before, during or
                                                  • 764,000+ children and adults
 just after birth:
                                                  • 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
                   Prenatal                         per 1,000)

                   Neonatal                       • 10,000 babies born each year
                   Postnatal                      • 8,000 - 10,000 babies and infants are
                                                    diagnosed per year




                                                                                                                3
Cerebral Palsy                 Incidence/Prevalence                                           Cerebral Palsy                     Incidence/Prevalence

• Around 1,200 to 1,500 preschool-aged                                                  •   75% of CP occurs during pregnancy , 5% during childbirth
                                                                                            and/or 15% after birth up to age 3
 children are diagnosed per year                                                        •   80% the etiology is unknown
• births 10% of cases are acquired                                                      •   The number of new cases have increased 25% during the
                                                                                            past decade (1990’s)
  (trauma)
                                                                                        •   Average lifetime cost per person of $921,000 (in 2003
• Normal life spans, 40% live to age 40,                                                    dollars)
  many living into their senior years




                Cerebral Palsy                Classifications                                                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-

        • Spastic - 61% to 76.9%                                                          Yearbook Inc.:17-54.

                                                                                       • Binocular acuity could be evaluated in
        • Dyskinetic/Athetoid - 10-15%                                                      45% of individuals below age 13
        • Ataxic - <5%                                                                 • For CP patients VAs are generally
                                                                                            decreased when compared to those
        • Mixed                                                                             measured for individuals with Down
                                                                                            Syndrome
                                                                                       •    Much higher incidence of ocular disease
                                                                                            and neurological dysfunction




           Cerebral Palsy                  Refractive Characteristics                                   Cerebral Palsy                     Refractive Characteristic

Scheiman MM. Optometric findings in children with cerebral palsy. Am J Optom Physiol
   Opt 1984;61:321-333

• 60% significant refractive error                                                          • Hyperopia present 3Xs
                                                                                              more than when compared
• Hyperopia (>+1.50) 3X more common among                                                     to myopia
   CP children than in non-affected individuals
• Other studies (Black, Breakey et al, Duckman,                                             • Wesson & Maino note:
                                                                                                 • many more hyperopes
   LoCasio) support increased refractive error                                                      than myopes
   being present                                                                                 • average amount of
                                                                                                    significant myopia is
                                                                                                    greater




                                                                                                                                                                           4
Cerebral Palsy           Binocular
                                                                                                            Cerebral Palsy InteractionTips
                                  Characteristics

• Prevalence of strabismus exceeds that of
  general population by a factor of 10!                                                    • Positioning
• Slightly more esotropia than exotropia                                                   • Right tools (objective)
• Dyskinetic Strabismus                                                                    • No sudden movement
    • slow tonic deviation similar to                                                      • No loud, unexpected noises
       vergence
    • change from ET to XT                                                                 • Speak smoothly, soothingly, softly….if
    • usually associated with athetoid                                                       appropriate, sing to the patient!
       classification                                                                      • Smile, smile SMILE!!!




                               Cerebral Palsy                                                                                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-
                                                                                       •   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
   Apr;31(2):488-95. Epub 2009 Dec 5.
                                                                                           Ophthalmol Vis Sci. 2010 Jun;51(6):2885-90. Epub 2010 Jan 27.


    ….Overall, 73% patients had                                                             . … A significantly higher prevalence and magnitude
                                                                                              of refractive error was found in the CP group …..
     impairments …..the majority of                                                           Higher spherical refractive errors were
     which presenting difficulties on                                                         significantly associated with the nonspastic CP ….
                                                                                              The presence and magnitude of astigmatism were
     both visuoperceptual and                                                                 greater when intellectual impairment was more
     visuospatial tasks (79%).. …                                                             severe, …. High refractive errors are common in
                                                                                              CP, pointing to impairment of the
                                                                                              emmetropization process. ….




                               Cerebral Palsy                                                                                Cerebral Palsy
                                                                                              Ross LM, Heron G, Mackie R, McWilliam R, Dutton GN.
McClelland JF, Parkes J, Hill N, Jackson AJ, Saunders KJ.                                     Reduced accommodative function in dyskinetic cerebral palsy: a novel
                                                                                                management strategy. Dev Med Child Neurol. 2000 Oct;42(10):701-3. Links
Accommodative dysfunction in children with cerebral palsy:
  a population-based study. Invest Ophthalmol Vis Sci. 2006                                   ….The near-vision symptoms were completely
  May;47(5):1824-30.                                                                            removed and reading dramatically improved with
                                                                                                the provision of varifocal spectacles. Varifocal
Brain injury such as that present in CP has a                                                   lenses provide an optimal correction for far,
                                                                                                intermediate (i.e. for computer screens), and
 significant impact on accommodative                                                            near distances (i.e. for reading). Managing this type
 function. These findings have implications                                                     of patient with varifocal spectacles has not been
 for the optometric care of children with CP                                                    previously reported. It is clearly very important
 and inform our understanding of the impact                                                    to prescribe an optimal spectacle correction
                                                                                               to provide clear vision to
 of early brain injury on visual development.
                                                                                              optimize learning.




                                                                                                                                                                                                5
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.




               Down Syndrome                                              Down Syndrome


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




               Down Syndrome                                 Down Syndrome              Prevalence/Incidence


From 1979 to 2003 the prevalence of                  • 1 in 12 for older mothers (>=49yrs of age)
 Down syndrome increased by 31.1%,                   • Most babies with Down syndrome born to
                                                       younger mothers (80% born to moms younger than 35)
 from 9.0 to 11.8 per 10,000 live births.
                                                     • Most frequently encounter “viable” genetic
 In 2002 prevalence among children and                 anomaly
 adolescents aged 0 to 19 was 1 in 971, or           • Most frequently encounter “special” patient
 approximately 83,400 children and                   • Prevalence increasing (improved survival rates)
 adolescents living with Down syndrome               http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm

 in the Unites States.




                                                                                                                                 6
You will see individual with Down                            Down Syndrome Etiology
               Syndrome in Your Office
                                                     • 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                              Down Syndrome                 Refractive Error

•   Genetics: Trisomy 21
                                                     Many more hyperopes than
                                                      myopes, but those with myopia
                                                      tended to have higher
                                                      magnitudes
                                                     Up to 49% may exhibit some
                                                      astigmatism




              Down Syndrome              Binocular
                                                                    What’s New in Down Syndrome
                       Characteristics

23-44% have strabismus                               Al-Bagdady M, Stewart RE, Watts P, Murphy PJ, Woodhouse JM. Bifocals
                                                     and Down's syndrome: correction or treatment? Ophthalmic Physiol
(Wesson & Maino) Down syndrome and                   Opt. 2009 Jul;29(4):416-21. Epub 2009 May 11.

  strabismus shows a constant unilateral                Accommodation is reduced in approximately 75% of
  esotropia of less than 20 PD at near.                 children with Down's syndrome (DS). Bifocals have
    (Greatly reduced number show ET at distance)        been shown to be beneficial and they are currently
                                                        prescribed regularly.. … Bifocals are an effective
    It’s suggested that the etiology is a high          correction for the reduced accommodation in children
    ACA ratio rather that of a basic ET                 with DS and also act to improve accommodation with
                                                        a success rate of 65%. ….




                                                                                                                                 7
What’s New in Down Syndrome
Haugen OH, Hovding G, Eide GE. Biometric measurements of the eyes in teenagers and
                                                                                            Haugen OH, Hovding G, Lundstrom I.Refractive development in children
young adults with Down syndrome.Acta Ophthalmol Scand. 2001 Dec;79(6):616-25.
                                                                                     with Down's syndrome: a population based, longitudinal study. Br J Ophthalmol.
                                                                                     2001 Jun;85(6):714-9.
Thinning of the corneal stroma may
account for the steeper cornea and the                                               ….Accommodation weakness may be of
high frequency of astigmatism in Down                                                aetiological importance to the high
syndrome due to lower corneal rigidity.                                              frequency of refractive errors
It may also be of etiological importance                                             encountered in patients with Down's
to the increased incidence of                                                        syndrome.
keratoconus in Down 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.

Stewart RE, Woodhouse JM, Cregg M, Pakeman VH. Association
between accommodative accuracy, hypermetropia, and strabismus                              …The majority of the Down syndrome
in children with Down's syndrome Optom Vis Sci. 2007                                       children with strabismus have an
Feb;84(2):149-55.
                                                                                           acquired esotropia and hence a
….This study demonstrates the marked                                                       potential for binocularity.
association between under-                                                                 Hypermetropia and accommodation
                                                                                           weakness are probably important
accommodation, hypermetropia, and
                                                                                           factors in esotropia …….
strabismus in children with Down's
syndrome. ….




        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.




                                                                                                                                                                      8
Fragile X Syndrome                                 Fragile X Syndrome


• What is it?                                      Most frequently encountered inherited form of
• What is it’s etiology?                             mental retardation (X-linked MR)
• What is it’s prevalence/incidence?               Often misdiagnosed in the past
• What are it’s physical/visual characteristics?   “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                           Fragile X Syndrome    Characteristics



X-linked MR 1:600 in affected males                • Large prominent ears
1/2500-4000 males 1/7000-8000 females              • Long narrow face
     female carriers 1/130-250 population          • Macro-orchidism
            male carrier 1/250-800                   (80% affected men)
       10% of undiagnosed ID in males
                                                   Other: hypotonia, seizures,
  3% of previously undiagnosed ID in females        recurrent otitis
                                                        media




        Fragile X Syndrome      Characteristics            Fragile X Syndrome    Characteristics



• Large prominent ears                             • Large prominent ears
• Long narrow face                                 • Long narrow face
• Macro-orchidism (80%                             • Macro-orchidism (80%
  affected men)                                      affected men)

Other: hypotonia, seizures,                        Other: hypotonia, seizures,
 recurrent otitis media                             recurrent otitis media




                                                                                                   9
Fragile X Syndrome    Characteristics                    Fragile X Syndrome                                 Characteristics




• First demonstrated genetic etiology of                                          Gaze Avoidance
  learning disability
• Variable mental retardation
• Math, language delay                               How do you conduct an
• Sensory integration problems                        examination on an individual
• Attentional deficits                                that won’t look at you?
• Psychiatric illnesses (shy)




           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                   What’s New in Fragile X Syndrome
                                                     •   Hatton DD, Buckley E, Lachiewicz A, Roberts J. Ocular status of boys with fragile X syndrome: a

• Strabismus (33-50%)                                    prospective study. J AAPOS. 1998 Oct;2(5):298-302.



• Nystagmus                                          …observe a higher prevalence of strabismus than
                                                      that found in the general population (8% vs 0.5%
• Refractive error                                    to 1…., 17% of the sample did have significant
• Accommodative dysfunctions?                         refractive errors. In addition to evaluating the
• Oculomotor anomalies                                ocular motility of children with fragile X
                                                      syndrome, cycloplegic refraction should also be
• Ocular Health?                                      performed to determine whether refractive
• Perceptual dysfunction                              problems are present.




                                                                                                                                                           10
What’s New in Fragile X Syndrome                                                                                  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              Effect of CX516, an AMPA-modulating compound, on cognition
      skills and their relationship to mutation size in full and premutation female fragile X carriers.Optom Vis Sci.
      2000 Nov;77(11):592-9.                                                                                              and behavior in fragile X syndrome: a controlled trial. Berry-
                                                                                                                          Kravis E, Krause SE, Block SS, Guter S, Wuu J, Leurgans S,
      ….full mutation  female carriers performed more                                                                     Decle P, Potanos K, Cook E, Salt J, Maino D, Weinberg D, Lara
      poorly in visual-motor processing and analysis-                                                                     R, Jardini T, Cogswell J, Johnson SA, Hagerman R. J Child
      synthesis on the Woodcock-Johnson Psycho-                                                                           Adolesc Psychopharmacol. 2006 Oct;16(5):525-40.PMID:
      Educational Battery-Revised, The Developmental                                                                      17069542
      Test of Visual Motor Integration, and on five of the                                                              Cognitive and visual processing skills and their relationship to
      seven subtests of the Test of Visual-Perceptual                                                                     mutation size in full and premutation female fragile X carriers.
      Skills. Regression analyses revealed significant                                                                    Block SS, Brusca-Vega R, Pizzi WJ, Berry-Kravis E, Maino DM,
      negative correlations between mutation size and                                                                     Treitman TM. Optom Vis Sci. 2000 Nov;77(11):592-9.PMID:
      cognitive ability. …                                                                                                11138833




                         What’s New in Fragile X Syndrome                                                                              Fragile X-associated tremor/ataxia syndrome
                                                                                                                                                        (FXTAS)
  The fragile X female: a case report of the visual, visual perceptual,
                                                                                                                             reported in 33-40% of men older than 50 years and, less
    and ocular health findings. Amin VR, Maino DM. J Am Optom
                                                                                                                             frequently (4-8%), in older women with premutations in the
    Assoc. 1995 May;66(5):
                                                                                                                             fragile X mental retardation (FMR1) gene.
  Optometric findings in the fragile X syndrome. Maino DM, Wesson                                                            Clinical features (FXTAS): incontinence, impotence, cerebellar
    M, Schlange D, Cibis G, Maino JH. Optom Vis Sci. 1991                                                                    ataxia, peripheral neuropathy, autonomic dysfunction/orthostatic
    Aug;68(8):                                                                                                               hypotension, severe intention tremor, and other signs of
  Mental retardation syndromes with associated ocular defects. Maino                                                         neurodegeneration (brain atrophy, memory loss and dementia,
    DM, Maino JH, Maino SA.                                                                                                  anxiety, depression, and irritability). Premature ovarian failure
  J Am Optom Assoc. 1990 Sep;61(9):707-16.                                                                                   in 25% of women with premutations; this represents a 30-fold
  Ocular anomalies in fragile X syndrome. Maino DM, Schlange D,                                                              increase compared with the general population.
    Maino JH, Caden B. J Am Optom Assoc. 1990 Apr;61(4):316-23




                                                     Autism                                                                                                      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.
Factors such as younger age of diagnosis, broadening of diagnostic criteria, improvements in the availability           There is an absence of gradations of infantile autism which would
of services, and better awareness of the disorder have all been attributed to the change in autism
                                                                                                                        create "blends" from normal to severely afflicted.
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




                                                                                                                                                                                                                              11
Autism Etiology                                                            Autism Etiology
Yeast infections
Intolerance to specific food substances                                               Brain injury, Constitutional vulnerability
(Gluten intolerance ("Leaky Gut Syndrome"/Casein intolerance causing
    intestinal permeability and allowing improperly digested peptides to enter
                                                                                    Developmental aphasia , Deficits in the reticular
    the bloodstream and cross the blood-brain barrier which may mimic                  activating system, An unfortunate interplay
    neurotransmitters and result in the scrambling of sensory input. I've also
    heard "Leaky Gut Syndrome" described as lack of the beneficial bacteria                     between psychogenic and
    that aids digestion, and that the resulting matter in the bloodstream invokes
    an unnecessary immune reaction)
                                                                                         neurodevelopmental factors, Structural
Phenolsulphertransferase (PST) deficiency--theory that some with autism are             cerebellar changes, Genetic causes, Viral
    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         causes, Immunological ties, Vaccines,
    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.
                                                                                                        Seizures




                           Autism Etiology                                                            Autism Etiology




   My Goodness!                                                                             What the research
                                                                                                shows…
 Maino DM, Viola, SG, Donati R. The
 Etiology of Autism. Optom Vis
 Dev 2009:(40)3:150-156.




                                  Autism                                                                  Autism


                                                                                                                    Asperger
       Impairment in social interactions                                             Childhood                      Syndrome
        Impairment in communication                                                  Disintegrative
                                                                                     Disorder         Autism
       Restricted repertoire of activities
                                                                                                                    Rett Syndrome




                                                                                                                                        12
Autism                                                         Autism US FDA Statement
                                                                              IOM Report: No Link Between Vaccines and Autism
                                                                              By Michelle Meadows
                                                                              There is no link between autism and the
  Childhood                                                                   measles-mumps-rubella (MMR) vaccine or the
                                                                                 Childhood
  Disintegrative                                                                 Disintegrative
  Disorder                                                                    vaccine preservative thimerosal, according to a
                                                                                 Disorder
                                                                              report released by the Institute of Medicine's
                                                                              (IOM) Immunization Safety Review
                                                                              Committee.
                                                                              http://www.fda.gov/fdac/features/2004/504_iom.html




                                  Autism                                                                         Autism
Thompson WW, Price C, Goodson B, Shay DK, Benson P, Hinrichsen
VL, et al. Early thimerosal exposure and neuropsychological outcomes at 7      Andrew Wakefield (born 1956) is a British former
to 10 years. N Engl J Med. 2007 Sep 27;357(13):1281-92
                                                                               surgeon and researcher best known for his discredited
  Childhood                                                                    work regarding the MMR vaccine and its claimed connection
                                                                                  Childhood
Our study does not support
  Disintegrative
  Disorder
                                                                                  Disintegrative
                                                                               with autism and inflammatory bowel disease. Wakefield was the lead author
                                                                                  Disorder
                                                                               of a 1998 study, published in The Lancet, which reported bowel symptoms in
a causal association                                    between early
                                                                               twelve children diagnosed with autism spectrum disorders, to which the authors
                                                                               suggested a possible link with the MMR vaccine. Though stating "We did not
exposure to mercury from thimerosal-containing vaccines and immune             prove an association between measles, mumps, and rubella vaccine and the
globulins and deficits in neuropsychological functioning at the age of 7 to    syndrome described," the paper tabulated parental allegations, and adopted these
10 years.                                                                      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                                                     Mental Retardation without Specific Etiology


                                                                                   Most frequently encountered form of Intellectual


       Autism?
                                                                                    Disability

                                                                                   4000 known Online Mendelian Inheritance
                                                                                     in Man
                                                                                        http://www.ncbi.nlm.nih.gov/omim
                                                                                   25% of the etiologies are unknown!




                                                                                                                                                                    13
Mental Retardation Classification                                                        Acquired/Traumatic Brain Injury

                                                                                Neuroplasticity
  Classification                                                     IQ         Maino D. Neuroplasticity: Teaching an Old Brain New Tricks. Rev Optom
Mild/Educable Mentally Handicapped                                   50-70        2009. 46(1):62-64,66-70.
                                                                                  (http://www.revoptom.com/continuing_education/tabviewtest/lessonid/106025/)
Moderate/Trainable Mentally Handicapped                              35-55
Severe                                                               20-40
Profound                                                             below 20




                Acquired/Traumatic Brain Injury                                                        Acquired/Traumatic Brain Injury

Neuroplasticity & Rehabilitation                                                Neuroplasticity & Rehabilitation
Use it or lose it. If you do not drive specific brain functions, functional     Time matters. Different forms of plasticity take place at different times
  loss will occur.                                                                 during therapy.
Use it and improve it. Therapy that drives cortical function enhances that      Salience matters. It has to be important to the individual.
  particular function.                                                          Age matters. Plasticity is easier in a younger brain, but is also possible in an
                                                                                   adult brain.
Specificity. The therapy you choose determines the resultant plasticity and
  function.                                                                     Transference. Neuroplasticity, and the change in function that results from
                                                                                   one therapy, can augment the attainment of similar behaviors.
Repetition matters. Plasticity that results in functional change requires       Interference. Plasticity in response to one experience can interfere with the
  repetition.                                                                      acquisition of other behaviors.
Intensity matters. Induction of plasticity requires the appropriate amount
                                                                                Kleim JA, Jones TA. Principles of experience-dependent neural plasticity: implications for
  of intensity.                                                                 rehabilitation after brain damage. J Speech Lang Hear Res 2008 Feb;51(1):S225-39.




                Acquired/Traumatic Brain Injury                                                        Acquired/Traumatic Brain Injury

Post Trauma Vision Syndrome Symptoms/Signs                                                  • Staring behavior (low blink rate)
                 Double vision                                                              • Spatial disorientation
                   Headaches                                                                • Losing place when reading
                 Blurred vision                                                             • Can’t find beginning of next line when
              Dizziness or nausea                                                             reading
                Light sensitivity                                                           • Comprehension problems when reading
     Attention or concentration difficulties                                                • Visual memory problems




                                                                                                                                                                             14
Acquired/Traumatic Brain Injury                    Acquired/Traumatic Brain Injury

    • Pulls away from objects when they are
      brought close to them
                                                       • Associated neuromotor
                                                         difficulties with balance,
    • Exotropia or high exophoria
    • Accommodative insufficiency                        coordination and posture
    • Convergence insufficiency                        • Perceived movement of
    • Poor fixations and pursuits                        stationary objects
    • Unstable peripheral vision




        Acquired/Traumatic Brain Injury                    Acquired/Traumatic Brain Injury

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




        Acquired/Traumatic Brain Injury                    Acquired/Traumatic Brain Injury

                   References                                         References
TBI a Major Cause of Disability                   • Myopia and Accommodative Insufficiency
 by Marc B. Taub, OD, FAAO, FCOVD                   Associated with Moderate Head Trauma
Clinical Oculomotor Training in Traumatic Brain     by Steve Leslie, B Optom, FACBO, FCOVD
 Injury by Kenneth J. Ciuffreda, OD, PhD, FAAO,   • Neuro-Optometry and the United States Legal
 FCOVD-A, Diana P. Ludlam, BS, COVT, Neera          System
 Kapoor, OD, MS, FAAO                               by Theodore S. Kadet, OD, FCOVD, R. E.
                                                    Bodkin, JD, MBA, Attorney-at-Law




                                                                                                   15
Acquired/Traumatic Brain Injury                                      Questions? Contact:

                          References                                Dominick M. Maino, OD, MEd, FAAO,FCOVD-A
• Oculo-Visual Evaluation of the Patient with                              Professor, Pediatric/Binocular Vision Service
                                                                       Illinois Eye Institute Illinois College of Optometry
  Traumatic Brain Injury                                                    3241 S. Michigan Ave. Chicago, Il. 60616
  by Maria Mandese, OD                                                      312-949-7280 (phone) 312-949-7660 (fax)
• Traumatic Brain Injury and Binasal Occlusion                                       dmaino@ico.edu
  by Alissa Proctor, OD                                                  www.ico.edu    LyonsFamilyEyeCare.com
                                                                                   MainosMemos.com
http://www.covd.org/Home/OVDJournal/OVD401/tabid/263/Default.aspx




                                                                                                                              16

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Visual Diagnosis and Care of the Patient with Special Needs: Syndromes

  • 1. Visual Diagnosis and Dominick M. Maino, O.D., M.Ed., F.A.A.O., F.C.O.V.D-A. Care of the Patient with Professor, Pediatrics/Binocular Vision Service Special Needs Illinois College of Optometry Illinois Eye Institute 3241 S. Michigan Ave. Chicago, Il. 60616 Syndromes/Genetic Anomalies/Brain Injury 312-949-7280 (Voice) 312-949-7358 (fax) dmaino@ico.edu MainosMemos.com www.ico.edu LyonsFamilyEyeCare.com Taub M, Bartuccio M, Maino D. (Eds) Visual Diagnosis and Care of the Patient Children with Special Needs 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. •Learning Disability Woodhouse M. Maino D. Down Syndrome. Berrry-Kravis E, Maino D. Fragile X •ADHD Coulter RA. Autism Schnell PH, Maino D, Jespersen R. Psychiatric Illness and Associated Oculo-visual Anomalies. •Cerebral Palsy Bartuccio M, Browing RT, Howell AC. ADHD Ciuffreda K, Kapoor N. Acquired Brain Injury. •Down Syndrome Maino D, Donati, R, Pang, Viola S, Barry S. Neuroplasticity. Lran BS, Mayer DL. Vision Impairment and Brain Damage •Fragile X Syndrome Children with Special Needs Learning Disabilities •Autism •Mental Retardation/Intellectual Reading/Dyslexia Disability Dyscalculia •Acquired/Traumatic Brain Injury Dysgraphia •Mental Illness/Psychiatric Illness 1
  • 2. Learning Disabilities Learning Disabilities Reading/Dyslexia Reading/Dyslexia Language Based Vision Based Reading disabilities common Combination of Language/Vision Dyslexia rare Learning Disabilities Learning Disabilities Dyscalculia (Math Disability) Dysgraphia 3 and 6% of the population Working memory (orthographic coding) Neurological Dyscalculia Motor planning Deficits in working & short term memory Attentional issues Congenital/hereditary (Gerstmann syndrome: Dyscalculia + Dysgraphia) Learning Disabilities Learning Disabilities ADHD/ADD Etiology ADHD/ADD Not Caused By: Brain Functioning Diet Heredity Hormones Exposure to Toxic Substances Vestibular dysfunction Brain Trauma, Tumors, Strokes or Disease Poor parenting Functional Vision Problems Television 2
  • 3. Learning Disabilities ADHD/ADD Treatment Medication Psychotherapy Education or Training A combination of treatments Oculomotor therapy/Vision Therapy Cerebral Palsy Cerebral Palsy • What is it? • Cerebral Palsy is a persistent, but not • What is it’s etiology? unchanging, disorder of movement and • What is it’s prevalence/incidence? posture appearing in the early years of life • How is it classified? due to traumatic or inflammatory brain • What are it’s visual characteristics? damage. • Affects virtually all motor systems • Can be acquired Cerebral Palsy Etiology Cerebral Palsy Incidence/Prevalence Something goes awry just before, during or • 764,000+ children and adults just after birth: • 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 Prenatal per 1,000) Neonatal • 10,000 babies born each year Postnatal • 8,000 - 10,000 babies and infants are diagnosed per year 3
  • 4. Cerebral Palsy Incidence/Prevalence Cerebral Palsy Incidence/Prevalence • Around 1,200 to 1,500 preschool-aged • 75% of CP occurs during pregnancy , 5% during childbirth and/or 15% after birth up to age 3 children are diagnosed per year • 80% the etiology is unknown • births 10% of cases are acquired • The number of new cases have increased 25% during the past decade (1990’s) (trauma) • Average lifetime cost per person of $921,000 (in 2003 • Normal life spans, 40% live to age 40, dollars) many living into their senior years Cerebral Palsy Classifications 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- • Spastic - 61% to 76.9% Yearbook Inc.:17-54. • Binocular acuity could be evaluated in • Dyskinetic/Athetoid - 10-15% 45% of individuals below age 13 • Ataxic - <5% • For CP patients VAs are generally decreased when compared to those • Mixed measured for individuals with Down Syndrome • Much higher incidence of ocular disease and neurological dysfunction Cerebral Palsy Refractive Characteristics Cerebral Palsy Refractive Characteristic Scheiman MM. Optometric findings in children with cerebral palsy. Am J Optom Physiol Opt 1984;61:321-333 • 60% significant refractive error • Hyperopia present 3Xs more than when compared • Hyperopia (>+1.50) 3X more common among to myopia CP children than in non-affected individuals • Other studies (Black, Breakey et al, Duckman, • Wesson & Maino note: • many more hyperopes LoCasio) support increased refractive error than myopes being present • average amount of significant myopia is greater 4
  • 5. Cerebral Palsy Binocular Cerebral Palsy InteractionTips Characteristics • Prevalence of strabismus exceeds that of general population by a factor of 10! • Positioning • Slightly more esotropia than exotropia • Right tools (objective) • Dyskinetic Strabismus • No sudden movement • slow tonic deviation similar to • No loud, unexpected noises vergence • change from ET to XT • Speak smoothly, soothingly, softly….if • usually associated with athetoid appropriate, sing to the patient! classification • Smile, smile SMILE!!! Cerebral Palsy 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- • 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 Apr;31(2):488-95. Epub 2009 Dec 5. Ophthalmol Vis Sci. 2010 Jun;51(6):2885-90. Epub 2010 Jan 27. ….Overall, 73% patients had . … A significantly higher prevalence and magnitude of refractive error was found in the CP group ….. impairments …..the majority of Higher spherical refractive errors were which presenting difficulties on significantly associated with the nonspastic CP …. The presence and magnitude of astigmatism were both visuoperceptual and greater when intellectual impairment was more visuospatial tasks (79%).. … severe, …. High refractive errors are common in CP, pointing to impairment of the emmetropization process. …. Cerebral Palsy Cerebral Palsy Ross LM, Heron G, Mackie R, McWilliam R, Dutton GN. McClelland JF, Parkes J, Hill N, Jackson AJ, Saunders KJ. Reduced accommodative function in dyskinetic cerebral palsy: a novel management strategy. Dev Med Child Neurol. 2000 Oct;42(10):701-3. Links Accommodative dysfunction in children with cerebral palsy: a population-based study. Invest Ophthalmol Vis Sci. 2006 ….The near-vision symptoms were completely May;47(5):1824-30. removed and reading dramatically improved with the provision of varifocal spectacles. Varifocal Brain injury such as that present in CP has a lenses provide an optimal correction for far, intermediate (i.e. for computer screens), and significant impact on accommodative near distances (i.e. for reading). Managing this type function. These findings have implications of patient with varifocal spectacles has not been for the optometric care of children with CP previously reported. It is clearly very important and inform our understanding of the impact to prescribe an optimal spectacle correction to provide clear vision to of early brain injury on visual development. optimize learning. 5
  • 6. 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. Down Syndrome Down Syndrome • What is it? • Langdon Down 1866 • What is it’s etiology? • What is it’s prevalence/incidence? • “Mongolism” no longer used • What are it’s physical/visual characteristics? • Most common genetic anomaly • Variable levels of ability & disability Down Syndrome Down Syndrome Prevalence/Incidence From 1979 to 2003 the prevalence of • 1 in 12 for older mothers (>=49yrs of age) Down syndrome increased by 31.1%, • Most babies with Down syndrome born to younger mothers (80% born to moms younger than 35) from 9.0 to 11.8 per 10,000 live births. • Most frequently encounter “viable” genetic In 2002 prevalence among children and anomaly adolescents aged 0 to 19 was 1 in 971, or • Most frequently encounter “special” patient approximately 83,400 children and • Prevalence increasing (improved survival rates) adolescents living with Down syndrome http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm in the Unites States. 6
  • 7. You will see individual with Down Down Syndrome Etiology Syndrome in Your Office • 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 Down Syndrome Refractive Error • Genetics: Trisomy 21 Many more hyperopes than myopes, but those with myopia tended to have higher magnitudes Up to 49% may exhibit some astigmatism Down Syndrome Binocular What’s New in Down Syndrome Characteristics 23-44% have strabismus Al-Bagdady M, Stewart RE, Watts P, Murphy PJ, Woodhouse JM. Bifocals and Down's syndrome: correction or treatment? Ophthalmic Physiol (Wesson & Maino) Down syndrome and Opt. 2009 Jul;29(4):416-21. Epub 2009 May 11. strabismus shows a constant unilateral Accommodation is reduced in approximately 75% of esotropia of less than 20 PD at near. children with Down's syndrome (DS). Bifocals have (Greatly reduced number show ET at distance) been shown to be beneficial and they are currently prescribed regularly.. … Bifocals are an effective It’s suggested that the etiology is a high correction for the reduced accommodation in children ACA ratio rather that of a basic ET with DS and also act to improve accommodation with a success rate of 65%. …. 7
  • 8. What’s New in Down Syndrome Haugen OH, Hovding G, Eide GE. Biometric measurements of the eyes in teenagers and Haugen OH, Hovding G, Lundstrom I.Refractive development in children young adults with Down syndrome.Acta Ophthalmol Scand. 2001 Dec;79(6):616-25. with Down's syndrome: a population based, longitudinal study. Br J Ophthalmol. 2001 Jun;85(6):714-9. Thinning of the corneal stroma may account for the steeper cornea and the ….Accommodation weakness may be of high frequency of astigmatism in Down aetiological importance to the high syndrome due to lower corneal rigidity. frequency of refractive errors It may also be of etiological importance encountered in patients with Down's to the increased incidence of syndrome. keratoconus in Down 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. Stewart RE, Woodhouse JM, Cregg M, Pakeman VH. Association between accommodative accuracy, hypermetropia, and strabismus …The majority of the Down syndrome in children with Down's syndrome Optom Vis Sci. 2007 children with strabismus have an Feb;84(2):149-55. acquired esotropia and hence a ….This study demonstrates the marked potential for binocularity. association between under- Hypermetropia and accommodation weakness are probably important accommodation, hypermetropia, and factors in esotropia ……. strabismus in children with Down's syndrome. …. 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. 8
  • 9. Fragile X Syndrome Fragile X Syndrome • What is it? Most frequently encountered inherited form of • What is it’s etiology? mental retardation (X-linked MR) • What is it’s prevalence/incidence? Often misdiagnosed in the past • What are it’s physical/visual characteristics? “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 Fragile X Syndrome Characteristics X-linked MR 1:600 in affected males • Large prominent ears 1/2500-4000 males 1/7000-8000 females • Long narrow face female carriers 1/130-250 population • Macro-orchidism male carrier 1/250-800 (80% affected men) 10% of undiagnosed ID in males Other: hypotonia, seizures, 3% of previously undiagnosed ID in females recurrent otitis media Fragile X Syndrome Characteristics Fragile X Syndrome Characteristics • Large prominent ears • Large prominent ears • Long narrow face • Long narrow face • Macro-orchidism (80% • Macro-orchidism (80% affected men) affected men) Other: hypotonia, seizures, Other: hypotonia, seizures, recurrent otitis media recurrent otitis media 9
  • 10. Fragile X Syndrome Characteristics Fragile X Syndrome Characteristics • First demonstrated genetic etiology of Gaze Avoidance learning disability • Variable mental retardation • Math, language delay How do you conduct an • Sensory integration problems examination on an individual • Attentional deficits that won’t look at you? • Psychiatric illnesses (shy) 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 What’s New in Fragile X Syndrome • Hatton DD, Buckley E, Lachiewicz A, Roberts J. Ocular status of boys with fragile X syndrome: a • Strabismus (33-50%) prospective study. J AAPOS. 1998 Oct;2(5):298-302. • Nystagmus …observe a higher prevalence of strabismus than that found in the general population (8% vs 0.5% • Refractive error to 1…., 17% of the sample did have significant • Accommodative dysfunctions? refractive errors. In addition to evaluating the • Oculomotor anomalies ocular motility of children with fragile X syndrome, cycloplegic refraction should also be • Ocular Health? performed to determine whether refractive • Perceptual dysfunction problems are present. 10
  • 11. What’s New in Fragile X Syndrome 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 Effect of CX516, an AMPA-modulating compound, on cognition skills and their relationship to mutation size in full and premutation female fragile X carriers.Optom Vis Sci. 2000 Nov;77(11):592-9. and behavior in fragile X syndrome: a controlled trial. Berry- Kravis E, Krause SE, Block SS, Guter S, Wuu J, Leurgans S, ….full mutation female carriers performed more Decle P, Potanos K, Cook E, Salt J, Maino D, Weinberg D, Lara poorly in visual-motor processing and analysis- R, Jardini T, Cogswell J, Johnson SA, Hagerman R. J Child synthesis on the Woodcock-Johnson Psycho- Adolesc Psychopharmacol. 2006 Oct;16(5):525-40.PMID: Educational Battery-Revised, The Developmental 17069542 Test of Visual Motor Integration, and on five of the Cognitive and visual processing skills and their relationship to seven subtests of the Test of Visual-Perceptual mutation size in full and premutation female fragile X carriers. Skills. Regression analyses revealed significant Block SS, Brusca-Vega R, Pizzi WJ, Berry-Kravis E, Maino DM, negative correlations between mutation size and Treitman TM. Optom Vis Sci. 2000 Nov;77(11):592-9.PMID: cognitive ability. … 11138833 What’s New in Fragile X Syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) The fragile X female: a case report of the visual, visual perceptual, reported in 33-40% of men older than 50 years and, less and ocular health findings. Amin VR, Maino DM. J Am Optom frequently (4-8%), in older women with premutations in the Assoc. 1995 May;66(5): fragile X mental retardation (FMR1) gene. Optometric findings in the fragile X syndrome. Maino DM, Wesson Clinical features (FXTAS): incontinence, impotence, cerebellar M, Schlange D, Cibis G, Maino JH. Optom Vis Sci. 1991 ataxia, peripheral neuropathy, autonomic dysfunction/orthostatic Aug;68(8): hypotension, severe intention tremor, and other signs of Mental retardation syndromes with associated ocular defects. Maino neurodegeneration (brain atrophy, memory loss and dementia, DM, Maino JH, Maino SA. anxiety, depression, and irritability). Premature ovarian failure J Am Optom Assoc. 1990 Sep;61(9):707-16. in 25% of women with premutations; this represents a 30-fold Ocular anomalies in fragile X syndrome. Maino DM, Schlange D, increase compared with the general population. Maino JH, Caden B. J Am Optom Assoc. 1990 Apr;61(4):316-23 Autism 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. Factors such as younger age of diagnosis, broadening of diagnostic criteria, improvements in the availability There is an absence of gradations of infantile autism which would of services, and better awareness of the disorder have all been attributed to the change in autism create "blends" from normal to severely afflicted. 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 11
  • 12. Autism Etiology Autism Etiology Yeast infections Intolerance to specific food substances Brain injury, Constitutional vulnerability (Gluten intolerance ("Leaky Gut Syndrome"/Casein intolerance causing intestinal permeability and allowing improperly digested peptides to enter Developmental aphasia , Deficits in the reticular the bloodstream and cross the blood-brain barrier which may mimic activating system, An unfortunate interplay neurotransmitters and result in the scrambling of sensory input. I've also heard "Leaky Gut Syndrome" described as lack of the beneficial bacteria between psychogenic and that aids digestion, and that the resulting matter in the bloodstream invokes an unnecessary immune reaction) neurodevelopmental factors, Structural Phenolsulphertransferase (PST) deficiency--theory that some with autism are cerebellar changes, Genetic causes, Viral 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 causes, Immunological ties, Vaccines, 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. Seizures Autism Etiology Autism Etiology My Goodness! What the research shows… Maino DM, Viola, SG, Donati R. The Etiology of Autism. Optom Vis Dev 2009:(40)3:150-156. Autism Autism Asperger Impairment in social interactions Childhood Syndrome Impairment in communication Disintegrative Disorder Autism Restricted repertoire of activities Rett Syndrome 12
  • 13. Autism Autism US FDA Statement IOM Report: No Link Between Vaccines and Autism By Michelle Meadows There is no link between autism and the Childhood measles-mumps-rubella (MMR) vaccine or the Childhood Disintegrative Disintegrative Disorder vaccine preservative thimerosal, according to a Disorder report released by the Institute of Medicine's (IOM) Immunization Safety Review Committee. http://www.fda.gov/fdac/features/2004/504_iom.html Autism Autism Thompson WW, Price C, Goodson B, Shay DK, Benson P, Hinrichsen VL, et al. Early thimerosal exposure and neuropsychological outcomes at 7 Andrew Wakefield (born 1956) is a British former to 10 years. N Engl J Med. 2007 Sep 27;357(13):1281-92 surgeon and researcher best known for his discredited Childhood work regarding the MMR vaccine and its claimed connection Childhood Our study does not support Disintegrative Disorder Disintegrative with autism and inflammatory bowel disease. Wakefield was the lead author Disorder of a 1998 study, published in The Lancet, which reported bowel symptoms in a causal association between early twelve children diagnosed with autism spectrum disorders, to which the authors suggested a possible link with the MMR vaccine. Though stating "We did not exposure to mercury from thimerosal-containing vaccines and immune prove an association between measles, mumps, and rubella vaccine and the globulins and deficits in neuropsychological functioning at the age of 7 to syndrome described," the paper tabulated parental allegations, and adopted these 10 years. 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 Mental Retardation without Specific Etiology Most frequently encountered form of Intellectual Autism? Disability 4000 known Online Mendelian Inheritance in Man http://www.ncbi.nlm.nih.gov/omim 25% of the etiologies are unknown! 13
  • 14. Mental Retardation Classification Acquired/Traumatic Brain Injury Neuroplasticity Classification IQ Maino D. Neuroplasticity: Teaching an Old Brain New Tricks. Rev Optom Mild/Educable Mentally Handicapped 50-70 2009. 46(1):62-64,66-70. (http://www.revoptom.com/continuing_education/tabviewtest/lessonid/106025/) Moderate/Trainable Mentally Handicapped 35-55 Severe 20-40 Profound below 20 Acquired/Traumatic Brain Injury Acquired/Traumatic Brain Injury Neuroplasticity & Rehabilitation Neuroplasticity & Rehabilitation Use it or lose it. If you do not drive specific brain functions, functional Time matters. Different forms of plasticity take place at different times loss will occur. during therapy. Use it and improve it. Therapy that drives cortical function enhances that Salience matters. It has to be important to the individual. particular function. Age matters. Plasticity is easier in a younger brain, but is also possible in an adult brain. Specificity. The therapy you choose determines the resultant plasticity and function. Transference. Neuroplasticity, and the change in function that results from one therapy, can augment the attainment of similar behaviors. Repetition matters. Plasticity that results in functional change requires Interference. Plasticity in response to one experience can interfere with the repetition. acquisition of other behaviors. Intensity matters. Induction of plasticity requires the appropriate amount Kleim JA, Jones TA. Principles of experience-dependent neural plasticity: implications for of intensity. rehabilitation after brain damage. J Speech Lang Hear Res 2008 Feb;51(1):S225-39. Acquired/Traumatic Brain Injury Acquired/Traumatic Brain Injury Post Trauma Vision Syndrome Symptoms/Signs • Staring behavior (low blink rate) Double vision • Spatial disorientation Headaches • Losing place when reading Blurred vision • Can’t find beginning of next line when Dizziness or nausea reading Light sensitivity • Comprehension problems when reading Attention or concentration difficulties • Visual memory problems 14
  • 15. Acquired/Traumatic Brain Injury Acquired/Traumatic Brain Injury • Pulls away from objects when they are brought close to them • Associated neuromotor difficulties with balance, • Exotropia or high exophoria • Accommodative insufficiency coordination and posture • Convergence insufficiency • Perceived movement of • Poor fixations and pursuits stationary objects • Unstable peripheral vision Acquired/Traumatic Brain Injury Acquired/Traumatic Brain Injury Visual Midline Shift Syndrome Visual Midline Shift Syndrome • Dizziness or nausea • Poor walking or posture: leans back on heels, forward, or to one side when • Spatial disorientation walking, standing or seated in a chair • Consistently stays to one side of • Perception of the floor being tilted hallway or room • Associated neuromotor difficulties with • Bumps into objects when walking balance, coordination and posture Acquired/Traumatic Brain Injury Acquired/Traumatic Brain Injury References References TBI a Major Cause of Disability • Myopia and Accommodative Insufficiency by Marc B. Taub, OD, FAAO, FCOVD Associated with Moderate Head Trauma Clinical Oculomotor Training in Traumatic Brain by Steve Leslie, B Optom, FACBO, FCOVD Injury by Kenneth J. Ciuffreda, OD, PhD, FAAO, • Neuro-Optometry and the United States Legal FCOVD-A, Diana P. Ludlam, BS, COVT, Neera System Kapoor, OD, MS, FAAO by Theodore S. Kadet, OD, FCOVD, R. E. Bodkin, JD, MBA, Attorney-at-Law 15
  • 16. Acquired/Traumatic Brain Injury Questions? Contact: References Dominick M. Maino, OD, MEd, FAAO,FCOVD-A • Oculo-Visual Evaluation of the Patient with Professor, Pediatric/Binocular Vision Service Illinois Eye Institute Illinois College of Optometry Traumatic Brain Injury 3241 S. Michigan Ave. Chicago, Il. 60616 by Maria Mandese, OD 312-949-7280 (phone) 312-949-7660 (fax) • Traumatic Brain Injury and Binasal Occlusion dmaino@ico.edu by Alissa Proctor, OD www.ico.edu LyonsFamilyEyeCare.com MainosMemos.com http://www.covd.org/Home/OVDJournal/OVD401/tabid/263/Default.aspx 16