Visual Diagnosis andCare of the Patient with    Special NeedsSyndromes/Genetic Anomalies/Brain Injury
Dominick M. Maino, O.D., M.Ed., F.A.A.O.,             F.C.O.V.D-A.                    Professor,      Pediatrics/Binocular...
Taub M, Bartuccio M, Maino D. (Eds)Visual Diagnosis and Care of the Patientwith Special Needs. Lippincott, Williams &Wilki...
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 Illne...
Learning DisabilitiesReading/Dyslexia  Dyscalculia  Dysgraphia
Learning DisabilitiesReading/DyslexiaReading disabilities common       Dyslexia rare
Learning DisabilitiesReading/Dyslexia      Language Based        Vision BasedCombination of Language/Vision
Learning Disabilities     Dyscalculia (Math Disability)               3 and 6% of the population            Neurological D...
Learning Disabilities         DysgraphiaWorking memory (orthographic coding)         Motor planning        Attentional iss...
Learning Disabilities   ADHD/ADD Etiology           Brain Functioning               Heredity      Exposure to Toxic Substa...
Learning DisabilitiesADHD/ADD Not Caused By:              Diet           Hormones     Vestibular dysfunction        Poor p...
Learning DisabilitiesADHD/ADD Treatment           Medication         Psychotherapy      Education or Training   A combinat...
Cerebral Palsy•   What is it?•   What is it’s etiology?•   What is it’s prevalence/incidence?•   How is it classified?•   ...
Cerebral Palsy• Cerebral Palsy is a persistent, but not  unchanging, disorder of movement and  posture appearing in the ea...
Cerebral Palsy   EtiologySomething goes awry just before, during or just after birth:                   Prenatal          ...
Cerebral Palsy     Incidence/Prevalence• 764,000+ children and adults• 500,000 children under age of 18• 2-3 children out ...
Cerebral Palsy   Incidence/Prevalence• Around 1,200 to 1,500 preschool-aged children are diagnosed per year• births 10% of...
Cerebral Palsy     Incidence/Prevalence•   75% of CP occurs during pregnancy , 5% during childbirth    and/or 15% after bi...
Cerebral Palsy   Classifications• Spastic - 61% to 76.9%• Dyskinetic/Athetoid - 10-15%• Ataxic - <5%• Mixed
Cerebral Palsy Visual CharacteristicsWesson M, Maino D. Oculovisual findings in children with Down syndrome, Cerebral   Pa...
Cerebral Palsy                  Refractive CharacteristicsScheiman MM. Optometric findings in children with cerebral palsy...
Cerebral Palsy   Refractive Characteristic• Hyperopia present 3Xs  more than when compared  to myopia• Wesson & Maino note...
Cerebral Palsy     Binocular                 Characteristics• Prevalence of strabismus exceeds that of  general population...
Cerebral Palsy InteractionTips• Positioning• Right tools (objective)• No sudden movement• No loud, unexpected noises• Spea...
Cerebral PalsyBarca L, Cappelli FR, Di Giulio P, Staccioli S, Castelli E. Outpatient assessment of   neurovisual functions...
Cerebral Palsy•   Saunders KJ, Little JA, McClelland JF, Jackson AJ. Profile of refractive errors in cerebral palsy:    im...
Cerebral PalsyMcClelland JF, Parkes J, Hill N, Jackson AJ, Saunders KJ.Accommodative dysfunction in children with cerebral...
Cerebral PalsyRoss LM, Heron G, Mackie R, McWilliam R, Dutton GN.Reduced accommodative function in dyskinetic cerebral pal...
Down Syndrome      From: http://www.ndss.org/aboutds/aboutds.html#DownChildren with Down syndrome have been included in re...
Down Syndrome• What is it?• What is it’s etiology?• What is it’s prevalence/incidence?• What are it’s physical/visual char...
Down Syndrome• Langdon Down 1866• “Mongolism” no longer used• Most common genetic anomaly• Variable levels of ability & di...
Down SyndromeFrom 1979 to 2003 the prevalence of Down syndrome increased by 31.1%, from 9.0 to 11.8 per 10,000 live births...
Down Syndrome            Prevalence/Incidence• 1 in 12 for older mothers (>=49yrs of age)• Most babies with Down syndrome ...
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-...
Down Syndrome Etiology•   Genetics: Trisomy 21
Down Syndrome   Refractive ErrorMany more hyperopes than myopes, but those with myopia tended to have higher magnitudesUp ...
Down Syndrome              Binocular                   Characteristics23-44% have strabismus(Wesson & Maino) Down syndrome...
What’s New in Down SyndromeAl-Bagdady M, Stewart RE, Watts P, Murphy PJ, Woodhouse JM. Bifocalsand Downs syndrome: correct...
What’s New in Down SyndromeHaugen OH, Hovding G, Eide GE. Biometric measurements of the eyes in teenagers andyoung adults ...
Haugen OH, Hovding G, Lundstrom I.Refractive development in childrenwith Downs syndrome: a population based, longitudinal ...
Stewart RE, Woodhouse JM, Cregg M, Pakeman VH. Associationbetween accommodative accuracy, hypermetropia, and strabismusin ...
Haugen OH, Hovding G.Strabismus and binocular function in children withDown syndrome. A population-based, longitudinal stu...
Stewart RE, Woodhouse MJ, Trojanowska LD. In focus:the use of bifocal spectacles with children with Downssyndrome.Ophthalm...
Fragile X Syndrome• What is it?• What is it’s etiology?• What is it’s prevalence/incidence?• What are it’s physical/visual...
Fragile X SyndromeMost frequently encountered inherited form of  mental retardation (X-linked MR)Often misdiagnosed in the...
Fragile X SyndromeX-linked MR 1:600 in affected males1/2500-4000 males 1/7000-8000 females     female carriers 1/130-250 p...
Fragile X Syndrome    Characteristics• Large prominent ears• Long narrow face• Macro-orchidism  (80% affected men)Other: h...
Fragile X Syndrome    Characteristics• Large prominent ears• Long narrow face• Macro-orchidism (80%  affected men)Other: h...
Fragile X Syndrome    Characteristics• Large prominent ears• Long narrow face• Macro-orchidism (80%  affected men)Other: h...
Fragile X Syndrome     Characteristics• First demonstrated genetic etiology of  learning disability• Variable mental retar...
Fragile X Syndrome   Characteristics          Gaze AvoidanceHow do you conduct an examination on an individual that won’t ...
Fragile X Syndrome   DiagnosisGenetics• Triplet nucleotide repeated sequence  • cytosine, guanine, guanine (CGG)  • 0-50 C...
Fragile X Syndrome   Ocular Findings• Strabismus (33-50%)• Nystagmus• Refractive error• Accommodative dysfunctions?• Oculo...
What’s New in Fragile X Syndrome•   Hatton DD, Buckley E, Lachiewicz A, Roberts J. Ocular status of boys with fragile X sy...
What’s New in Fragile X SyndromeBlock SS, Brusca-Vega R, Pizzi WJ, Berry-Kravis E, Maino DM, Treitman TM.Cognitive and vis...
What’s New in Fragile X SyndromeEffect of CX516, an AMPA-modulating compound, on cognition  and behavior in fragile X synd...
What’s New in Fragile X SyndromeThe fragile X female: a case report of the visual, visual perceptual,  and ocular health f...
Fragile X-associated tremor/ataxia syndrome                       (FXTAS)reported in 33-40% of men older than 50 years and...
AutismFactors such as younger age of diagnosis, broadening of diagnostic criteria, improvements in the availabilityof serv...
Autism                     Do Parents cause their children to be autistic ?There are autistic children born to parents who...
Autism EtiologyYeast infectionsIntolerance to specific food substances(Gluten intolerance ("Leaky Gut Syndrome"/Casein int...
Autism Etiology  Brain injury, Constitutional vulnerabilityDevelopmental aphasia , Deficits in the reticular   activating ...
Autism Etiology My Goodness!Maino DM, Viola, SG, Donati R. TheEtiology of Autism. Optom VisDev 2009:(40)3:150-156.
Autism EtiologyWhat the research    shows…
AutismImpairment in social interactions Impairment in communicationRestricted repertoire of activities
Autism                            AspergerChildhood                   SyndromeDisintegrativeDisorder         Autism       ...
AutismChildhoodDisintegrativeDisorder
Autism US FDA StatementIOM Report: No Link Between Vaccines and AutismBy Michelle MeadowsThere is no link between autism a...
AutismThompson WW, Price C, Goodson B, Shay DK, Benson P, HinrichsenVL, et al. Early thimerosal exposure and neuropsycholo...
AutismAndrew Wakefield (born 1956) is a British formersurgeon and researcher best known for his discreditedwork regarding ...
SummaryAutism?
Mental Retardation without Specific EtiologyMost frequently encountered form of Intellectual Disability4000 known Online M...
Mental Retardation    Classification  Classification                               IQMild/Educable Mentally Handicapped   ...
Acquired/Traumatic Brain InjuryNeuroplasticityMaino D. Neuroplasticity: Teaching an Old Brain New Tricks. Rev Optom  2009....
Acquired/Traumatic Brain InjuryNeuroplasticity & RehabilitationUse it or lose it. If you do not drive specific brain funct...
Acquired/Traumatic Brain InjuryNeuroplasticity & RehabilitationTime matters. Different forms of plasticity take place at d...
Acquired/Traumatic Brain InjuryPost Trauma Vision Syndrome Symptoms/Signs                 Double vision                   ...
Acquired/Traumatic Brain Injury• Staring behavior (low blink rate)• Spatial disorientation• Losing place when reading• Can...
Acquired/Traumatic Brain Injury• Pulls away from objects when they are  brought close to them• Exotropia or high exophoria...
Acquired/Traumatic Brain Injury• Associated neuromotor  difficulties with balance,  coordination and posture• Perceived mo...
Acquired/Traumatic Brain Injury     Visual Midline Shift Syndrome• Dizziness or nausea• Spatial disorientation• Consistent...
Acquired/Traumatic Brain Injury     Visual Midline Shift Syndrome• Poor walking or posture: leans back on  heels, forward,...
Acquired/Traumatic Brain Injury                   ReferencesTBI a Major Cause of Disability by Marc B. Taub, OD, FAAO, FCO...
Acquired/Traumatic Brain Injury                    References• Myopia and Accommodative Insufficiency  Associated with Mod...
Acquired/Traumatic Brain Injury                     References• Oculo-Visual Evaluation of the Patient with  Traumatic Bra...
Questions? Contact:Dominick M. Maino, OD, MEd, FAAO,FCOVD-A      Professor, Pediatric/Binocular Vision Service   Illinois ...
Visual Diagnosis and Care of Patients with Special Needs: Syndromes
Visual Diagnosis and Care of Patients with Special Needs: Syndromes
Visual Diagnosis and Care of Patients with Special Needs: Syndromes
Visual Diagnosis and Care of Patients with Special Needs: Syndromes
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Visual Diagnosis and Care of Patients with Special Needs: Syndromes

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Visual Diagnosis and Care of Patients with Special Needs: Syndromes

  1. 1. Visual Diagnosis andCare of the Patient with Special NeedsSyndromes/Genetic Anomalies/Brain Injury
  2. 2. Dominick M. Maino, O.D., M.Ed., F.A.A.O., F.C.O.V.D-A. Professor, Pediatrics/Binocular Vision Service Illinois College of Optometry Illinois Eye Institute 3241 S. Michigan Ave. Chicago, Il. 60616 312-949-7280 (Voice) 312-949-7358 (fax) dmaino@ico.edu MainosMemos.com www.ico.edu LyonsFamilyEyeCare.com
  3. 3. Taub M, Bartuccio M, Maino D. (Eds)Visual Diagnosis and Care of the Patientwith Special Needs. Lippincott, Williams &Wilkins. New York, NY;2012.Steel G, Maino D. The Life Cycle Approach to Care for Patients withSpecial Needs.Taub M, Reddell AS. Cerebral Palsy.Woodhouse M. Maino D. Down Syndrome.Berrry-Kravis E, Maino D. Fragile XCoulter RA. AutismSchnell PH, Maino D, Jespersen R. Psychiatric Illness and AssociatedOculo-visual Anomalies.Bartuccio M, Browing RT, Howell AC. ADHDCiuffreda 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
  4. 4. Children with Special Needs•Learning Disability•ADHD•Cerebral Palsy•Down Syndrome•Fragile X Syndrome
  5. 5. Children with Special Needs•Autism•Mental Retardation/Intellectual Disability•Acquired/Traumatic Brain Injury•Mental Illness/Psychiatric Illness
  6. 6. Learning DisabilitiesReading/Dyslexia Dyscalculia Dysgraphia
  7. 7. Learning DisabilitiesReading/DyslexiaReading disabilities common Dyslexia rare
  8. 8. Learning DisabilitiesReading/Dyslexia Language Based Vision BasedCombination of Language/Vision
  9. 9. Learning Disabilities Dyscalculia (Math Disability) 3 and 6% of the population Neurological Dyscalculia Deficits in working & short term memoryCongenital/hereditary (Gerstmann syndrome: Dyscalculia + Dysgraphia)
  10. 10. Learning Disabilities DysgraphiaWorking memory (orthographic coding) Motor planning Attentional issues
  11. 11. Learning Disabilities ADHD/ADD Etiology Brain Functioning Heredity Exposure to Toxic SubstancesBrain Trauma, Tumors, Strokes or Disease Functional Vision Problems
  12. 12. Learning DisabilitiesADHD/ADD Not Caused By: Diet Hormones Vestibular dysfunction Poor parenting Television
  13. 13. Learning DisabilitiesADHD/ADD Treatment Medication Psychotherapy Education or Training A combination of treatmentsOculomotor therapy/Vision Therapy
  14. 14. 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?
  15. 15. 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
  16. 16. Cerebral Palsy EtiologySomething goes awry just before, during or just after birth: Prenatal Neonatal Postnatal
  17. 17. 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
  18. 18. Cerebral Palsy Incidence/Prevalence• 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
  19. 19. Cerebral Palsy Incidence/Prevalence• 75% of CP occurs during pregnancy , 5% during childbirth and/or 15% after birth up to age 3• 80% the etiology is unknown• 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)
  20. 20. Cerebral Palsy Classifications• Spastic - 61% to 76.9%• Dyskinetic/Athetoid - 10-15%• Ataxic - <5%• Mixed
  21. 21. Cerebral Palsy Visual CharacteristicsWesson 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
  22. 22. Cerebral Palsy Refractive CharacteristicsScheiman 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
  23. 23. 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
  24. 24. 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
  25. 25. 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!!!
  26. 26. Cerebral PalsyBarca 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%).. …
  27. 27. 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. ….
  28. 28. Cerebral PalsyMcClelland 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.
  29. 29. Cerebral PalsyRoss 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 tooptimize learning.
  30. 30. Down Syndrome From: http://www.ndss.org/aboutds/aboutds.html#DownChildren with Down syndrome have been included in regular academicclassrooms in schools across the country. In some instances they areintegrated into specific courses, while in other situations students arefully included in the regular classroom for all subjects. The degree ofmainstreaming is based in the abilities of the individual; but the trend isfor full inclusion in the social and educational life of the community.
  31. 31. Down Syndrome• What is it?• What is it’s etiology?• What is it’s prevalence/incidence?• What are it’s physical/visual characteristics?
  32. 32. Down Syndrome• Langdon Down 1866• “Mongolism” no longer used• Most common genetic anomaly• Variable levels of ability & disability
  33. 33. Down SyndromeFrom 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.
  34. 34. 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
  35. 35. You will see individual with Down Syndrome in Your Office
  36. 36. 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.
  37. 37. Down Syndrome Etiology• Genetics: Trisomy 21
  38. 38. Down Syndrome Refractive ErrorMany more hyperopes than myopes, but those with myopia tended to have higher magnitudesUp to 49% may exhibit some astigmatism
  39. 39. Down Syndrome Binocular Characteristics23-44% 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
  40. 40. What’s New in Down SyndromeAl-Bagdady M, Stewart RE, Watts P, Murphy PJ, Woodhouse JM. Bifocalsand Downs syndrome: correction or treatment? Ophthalmic PhysiolOpt. 2009 Jul;29(4):416-21. Epub 2009 May 11. Accommodation is reduced in approximately 75% of children with Downs 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%. ….
  41. 41. What’s New in Down SyndromeHaugen OH, Hovding G, Eide GE. Biometric measurements of the eyes in teenagers andyoung adults with Down syndrome.Acta Ophthalmol Scand. 2001 Dec;79(6):616-25.Thinning of the corneal stroma mayaccount for the steeper cornea and thehigh frequency of astigmatism in Downsyndrome due to lower corneal rigidity.It may also be of etiological importanceto the increased incidence ofkeratoconus in Down syndrome.
  42. 42. Haugen OH, Hovding G, Lundstrom I.Refractive development in childrenwith Downs syndrome: a population based, longitudinal study. Br J Ophthalmol.2001 Jun;85(6):714-9.….Accommodation weakness may be ofaetiological importance to the highfrequency of refractive errorsencountered in patients with Downssyndrome.
  43. 43. Stewart RE, Woodhouse JM, Cregg M, Pakeman VH. Associationbetween accommodative accuracy, hypermetropia, and strabismusin children with Downs syndrome Optom Vis Sci. 2007Feb;84(2):149-55.….This study demonstrates the markedassociation between under-accommodation, hypermetropia, andstrabismus in children with Downssyndrome. ….
  44. 44. Haugen OH, Hovding G.Strabismus and binocular function in children withDown syndrome. A population-based, longitudinal study.Acta OphthalmolScand. 2001 Apr;79(2):133-9.…The majority of the Down syndromechildren with strabismus have anacquired esotropia and hence apotential for binocularity.Hypermetropia and accommodationweakness are probably importantfactors in esotropia …….
  45. 45. Stewart RE, Woodhouse MJ, Trojanowska LD. In focus:the use of bifocal spectacles with children with Downssyndrome.Ophthalmic Physiol Opt. 2005 Nov;25(6):514-22 …….Based on the results of this study, eye examinations of children with Downs syndrome should routinely include a measure of accommodation at near, and bifocal spectacles should be considered for those who show under- accommodation.
  46. 46. Fragile X Syndrome• What is it?• What is it’s etiology?• What is it’s prevalence/incidence?• What are it’s physical/visual characteristics?
  47. 47. Fragile X SyndromeMost 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 world1st human disease shown to be caused by a repeated nucleotide sequence
  48. 48. Fragile X SyndromeX-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
  49. 49. Fragile X Syndrome Characteristics• Large prominent ears• Long narrow face• Macro-orchidism (80% affected men)Other: hypotonia, seizures, recurrent otitis media
  50. 50. Fragile X Syndrome Characteristics• Large prominent ears• Long narrow face• Macro-orchidism (80% affected men)Other: hypotonia, seizures, recurrent otitis media
  51. 51. Fragile X Syndrome Characteristics• Large prominent ears• Long narrow face• Macro-orchidism (80% affected men)Other: hypotonia, seizures, recurrent otitismedia
  52. 52. Fragile X Syndrome Characteristics• First demonstrated genetic etiology of learning disability• Variable mental retardation• Math, language delay• Sensory integration problems• Attentional deficits• Psychiatric illnesses (shy)
  53. 53. Fragile X Syndrome Characteristics Gaze AvoidanceHow do you conduct an examination on an individual that won’t look at you?
  54. 54. Fragile X Syndrome DiagnosisGenetics• 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)
  55. 55. Fragile X Syndrome Ocular Findings• Strabismus (33-50%)• Nystagmus• Refractive error• Accommodative dysfunctions?• Oculomotor anomalies• Ocular Health?• Perceptual dysfunction
  56. 56. 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.
  57. 57. What’s New in Fragile X SyndromeBlock 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. …
  58. 58. What’s New in Fragile X SyndromeEffect 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: 17069542Cognitive 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
  59. 59. What’s New in Fragile X SyndromeThe 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
  60. 60. Fragile X-associated tremor/ataxia syndrome (FXTAS)reported in 33-40% of men older than 50 years and, lessfrequently (4-8%), in older women with premutations in thefragile X mental retardation (FMR1) gene.Clinical features (FXTAS): incontinence, impotence, cerebellarataxia, peripheral neuropathy, autonomic dysfunction/orthostatichypotension, severe intention tremor, and other signs ofneurodegeneration (brain atrophy, memory loss and dementia,anxiety, depression, and irritability). Premature ovarian failurein 25% of women with premutations; this represents a 30-foldincrease compared with the general population.
  61. 61. AutismFactors such as younger age of diagnosis, broadening of diagnostic criteria, improvements in the availabilityof services, and better awareness of the disorder have all been attributed to the change in autismprevalence. However, recent epidemiological studies indicated that, while these factors do account for aportion of the change, they cannot account for all of the increase alone
  62. 62. 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 wouldcreate "blends" from normal to severely afflicted.
  63. 63. Autism EtiologyYeast infectionsIntolerance 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. Ive 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.
  64. 64. Autism Etiology Brain injury, Constitutional vulnerabilityDevelopmental 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
  65. 65. Autism Etiology My Goodness!Maino DM, Viola, SG, Donati R. TheEtiology of Autism. Optom VisDev 2009:(40)3:150-156.
  66. 66. Autism EtiologyWhat the research shows…
  67. 67. AutismImpairment in social interactions Impairment in communicationRestricted repertoire of activities
  68. 68. Autism AspergerChildhood SyndromeDisintegrativeDisorder Autism Rett Syndrome
  69. 69. AutismChildhoodDisintegrativeDisorder
  70. 70. Autism US FDA StatementIOM Report: No Link Between Vaccines and AutismBy Michelle MeadowsThere is no link between autism and themeasles-mumps-rubella (MMR) vaccine or the Childhood Disintegrativevaccine preservative thimerosal, according to a Disorderreport released by the Institute of Medicines(IOM) Immunization Safety ReviewCommittee.http://www.fda.gov/fdac/features/2004/504_iom.html
  71. 71. AutismThompson WW, Price C, Goodson B, Shay DK, Benson P, HinrichsenVL, et al. Early thimerosal exposure and neuropsychological outcomes at 7to 10 years. N Engl J Med. 2007 Sep 27;357(13):1281-92 ChildhoodOur study does not support Disintegrative Disordera causal association between earlyexposure to mercury from thimerosal-containing vaccines and immuneglobulins and deficits in neuropsychological functioning at the age of 7 to10 years.
  72. 72. AutismAndrew Wakefield (born 1956) is a British formersurgeon and researcher best known for his discreditedwork regarding the MMR vaccine and its claimed connection Childhood Disintegrativewith autism and inflammatory bowel disease. Wakefield was the lead author Disorderof a 1998 study, published in The Lancet, which reported bowel symptoms intwelve children diagnosed with autism spectrum disorders, to which the authorssuggested a possible link with the MMR vaccine. Though stating "We did notprove an association between measles, mumps, and rubella vaccine and thesyndrome described," the paper tabulated parental allegations, and adopted theseallegations as fact for the purpose of calculating a temporal link between receiptof the vaccine and the first onset of what were described as "behaviouralsymptoms“.
  73. 73. SummaryAutism?
  74. 74. Mental Retardation without Specific EtiologyMost frequently encountered form of Intellectual Disability4000 known Online Mendelian Inheritance in Man http://www.ncbi.nlm.nih.gov/omim25% of the etiologies are unknown!
  75. 75. Mental Retardation Classification Classification IQMild/Educable Mentally Handicapped 50-70Moderate/Trainable Mentally Handicapped 35-55Severe 20-40Profound below 20
  76. 76. Acquired/Traumatic Brain InjuryNeuroplasticityMaino 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/)
  77. 77. Acquired/Traumatic Brain InjuryNeuroplasticity & 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.
  78. 78. Acquired/Traumatic Brain InjuryNeuroplasticity & 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 forrehabilitation after brain damage. J Speech Lang Hear Res 2008 Feb;51(1):S225-39.
  79. 79. Acquired/Traumatic Brain InjuryPost Trauma Vision Syndrome Symptoms/Signs Double vision Headaches Blurred vision Dizziness or nausea Light sensitivity Attention or concentration difficulties
  80. 80. Acquired/Traumatic Brain Injury• Staring behavior (low blink rate)• Spatial disorientation• Losing place when reading• Can’t find beginning of next line when reading• Comprehension problems when reading• Visual memory problems
  81. 81. Acquired/Traumatic Brain Injury• Pulls away from objects when they are brought close to them• Exotropia or high exophoria• Accommodative insufficiency• Convergence insufficiency• Poor fixations and pursuits• Unstable peripheral vision
  82. 82. Acquired/Traumatic Brain Injury• Associated neuromotor difficulties with balance, coordination and posture• Perceived movement of stationary objects
  83. 83. Acquired/Traumatic Brain Injury Visual Midline Shift Syndrome• Dizziness or nausea• Spatial disorientation• Consistently stays to one side of hallway or room• Bumps into objects when walking
  84. 84. Acquired/Traumatic Brain Injury Visual Midline Shift Syndrome• Poor walking or posture: leans back on heels, forward, or to one side when walking, standing or seated in a chair• Perception of the floor being tilted• Associated neuromotor difficulties with balance, coordination and posture
  85. 85. Acquired/Traumatic Brain Injury ReferencesTBI a Major Cause of Disability by Marc B. Taub, OD, FAAO, FCOVDClinical 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
  86. 86. Acquired/Traumatic Brain Injury References• Myopia and Accommodative Insufficiency Associated with Moderate Head Trauma by Steve Leslie, B Optom, FACBO, FCOVD• Neuro-Optometry and the United States Legal System by Theodore S. Kadet, OD, FCOVD, R. E. Bodkin, JD, MBA, Attorney-at-Law
  87. 87. Acquired/Traumatic Brain Injury References• Oculo-Visual Evaluation of the Patient with Traumatic Brain Injury by Maria Mandese, OD• Traumatic Brain Injury and Binasal Occlusion by Alissa Proctor, ODhttp://www.covd.org/Home/OVDJournal/OVD401/tabid/263/Default.aspx
  88. 88. Questions? Contact:Dominick M. Maino, OD, MEd, FAAO,FCOVD-A Professor, Pediatric/Binocular Vision Service Illinois Eye Institute Illinois College of Optometry 3241 S. Michigan Ave. Chicago, Il. 60616 312-949-7280 (phone) 312-949-7660 (fax) dmaino@ico.edu www.ico.edu LyonsFamilyEyeCare.com MainosMemos.com
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