Maino cao dx txspecpop part 1


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Maino cao dx txspecpop part 1

  1. 1. Dominick M. Maino, O.D., M.Ed., F.A.A.O., Diagnosis and F.C.O.V.D-A. Professor, Management of Pediatrics/Binocular Vision Service P di i /Bi l Vi i S i Illinois College of Optometry Special Populations Illinois Eye Institute 3241 S. Michigan Ave. Chicago, Il. 60616 312-949-7280 (Voice) 312-949-7358 (fax) Children with Special Needs Children with Special Needs•Learning Disability •Autism•ADHD •Mental Retardation/Intellectual•C b l Palsy Cerebral P l Disability•Down Syndrome •Acquired/Traumatic Brain Injury•Fragile X Syndrome •Mental Illness/Psychiatric Illness Learning Disabilities Learning Disabilities Reading/Dyslexia Reading/Dyslexia Dyscalculia Dysgraphia Reading disabilities common Dyslexia rare 1
  2. 2. Learning Disabilities Learning Disabilities Reading/Dyslexia Dyscalculia (Math Disability) Language Based g g 3 and 6% of the population Vision Based Neurological DyscalculiaCombination of Language/Vision Deficits in working & short term memory Congenital/hereditary (Gerstmann syndrome: Dyscalculia + Dysgraphia) Learning Disabilities Learning Disabilities ADHD/ADD Etiology Dysgraphia Working memory (orthographic coding) g y( g p g) Brain Functioning Motor planning Heredity Attentional issues Exposure to Toxic Substances Brain Trauma, Tumors, Strokes or Disease Functional Vision Problems Learning Disabilities Learning DisabilitiesADHD/ADD Not Caused By: ADHD/ADD Treatment Diet Medication Hormones Psychotherapy Vestibular dysfunction Education or Training Poor parenting A combination of treatments Television Oculomotor therapy/Vision Therapy 2
  3. 3. Cerebral Palsy • What is it? • What is it’s etiology? • What is it’s prevalence/incidence? • How is it classified? • What are it’s visual characteristics? Cerebral Palsy Cerebral Palsy Etiology• Cerebral Palsy is a persistent, but not Something goes awry just before, during or unchanging, disorder of movement and just after birth: posture appearing in the early years of life Prenatal due to traumatic or inflammatory brain damage. Neonatal• Affects virtually all motor systems Postnatal• Can be acquired Cerebral Palsy Incidence/Prevalence Cerebral Palsy Incidence/Prevalence• Incidence 2-4/1000 live births • 75% of CP occurs during pregnancy , 5% during childbirth and/or 15% after birth up to age 3• Prevalence 1.5-2/1000 live • 80% the etiology is unknown• births 10% of cases are acquired (trauma) • There are 550,000-764,000 persons in the USA with• N l lif spans, 40% live to age 40, many Normal life li t 40 cerebral palsy living into their senior years • The number of new cases have increased 25% during the past decade (1990’s)• > 1/2 million individual with CP living in USA • There are now 10,000 new cases/year. • Average lifetime cost per person of $921,000 (in 2003 dollars) 3
  4. 4. 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 - 70-80% 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 CharacteristicScheiman 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 non affected• 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 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)• D ki ti Strabismus Dyskinetic St bi • 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!!! 4
  5. 5. Cerebral Palsy 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- • 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 ….. g p impairments …..the majority of the 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. LinksAccommodative 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 p pBrain 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. Down Syndrome From: 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. 5
  6. 6. Down Syndrome Down Syndrome • What is it? • Langdon Down 1866 • What is it’s etiology? • What is it s prevalence/incidence? it’s • “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 Down syndrome is the most commonly • 1 in 800-1000 live births occurring genetic condition. One in • 1 in 12 for older mothers (>=49yrs of age) every 800 to 1,000 live births is a child • Most babies with Down syndrome born to younger mothers (80% born to moms younger than 35) with Down syndrome, representing ith D d ti • Most frequently encounter “viable” genetic approximately 5,000+ births per year in anomaly the United States alone. Today, Down • Most frequently encounter “special” patient syndrome affects more than 350,000 • Prevalence increasing (improved survival rates) people in the United States. Down Syndrome Etiology Down Syndrome Etiology• Genetics • Genetics: Trisomy 21 • 95% demonstrate non-disjunction of one chromosome during meiosis (Trisomy 21) • 2-4% mosaicism • 3-4% Robertsonian translocation of the long 3 4% 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. 6
  7. 7. Down Syndrome Refractive Error Down Syndrome Binocular CharacteristicsMany more hyperopes than 23-44% have strabismus (Wesson & Maino) Down syndrome and myopes, but those with myopia strabismus shows a constant unilateral tended to have higher esotropia of less than 20 PD at near. near (Greatly reduced number show ET at distance) magnitudes It’s suggested that the etiology is a highUp to 49% may exhibit some ACA ratio rather that of a basic ET astigmatism What’s New in Down Syndrome What’s New in Down SyndromeAl-Bagdady M, Stewart RE, Watts P, Murphy PJ, Woodhouse JM. Bifocals Haugen OH, Hovding G, Eide GE. Biometric measurements of the eyes in teenagers and young adults with Down syndrome.Acta Ophthalmol Scand. 2001 Dec;79(6):616-25.and Downs syndrome: correction or treatment? Ophthalmic PhysiolOpt. 2009 Jul;29(4):416-21. Epub 2009 May 11. CONCLUSIONS: Thinning of the corneal Accommodation is reduced in approximately 75% of stroma may account for the steeper children with Downs syndrome (DS). Bifocals have (DS) cornea and the high frequency of been shown to be beneficial and they are currently astigmatism in Down syndrome due to prescribed regularly.. … Bifocals are an effective lower corneal rigidity. It may also be of correction for the reduced accommodation in children etiological importance to the increased with DS and also act to improve accommodation with a success rate of 65%. …. incidence of keratoconus in Down syndrome. Haugen OH, Hovding G, Lundstrom I.Refractive development in children Stewart RE, Woodhouse JM, Cregg M, Pakeman VH. Association with Downs syndrome: a population based, longitudinal study. Br J Ophthalmol. 2001 Jun;85(6):714-9. between accommodative accuracy, hypermetropia, and strabismus in children with Downs syndrome Optom Vis Sci. 2007 Feb;84(2):149-55. ….Accommodation weakness may be of aetiological importance to the high ….This study demonstrates the marked This st d frequency of refractive errors association between under- encountered in patients with Downs accommodation, hypermetropia, and syndrome. strabismus in children with Downs syndrome. …. 7
  8. 8. Haugen OH, Hovding G.Strabismus and binocular function in children with Stewart RE, Margaret Woodhouse J, Trojanowska LD. In Down syndrome. A population-based, longitudinal study.Acta Ophthalmol focus: the use of bifocal spectacles with children with Scand. 2001 Apr;79(2):133-9. Downs syndrome.Ophthalmic Physiol Opt. 2005 Nov;25(6):514-22 …The majority of the Down syndrome children with strabismus have an …….Based on the results of this acquired esotropia and hence a study, eye examinations of children potential for binocularity. binocularity with Downs syndrome should y Hypermetropia and accommodation routinely include a measure of weakness are probably important accommodation at near, and bifocal factors in esotropia ……. spectacles should be considered for those who show under- accommodation. Fragile X Syndrome • What is it? • What is it’s etiology? • What is it s prevalence/incidence? it’s • What are it’s physical/visual characteristics? Fragile X Syndrome Fragile X SyndromeMost frequently encountered inherited form of X-linked MR 1:600 in affected males mental retardation (X-linked MR) 1:400 female carriersOften misdiagnosed in the past g p Prevalence 2.6 cases per 1,000 in the 26 1 000“New” syndrome that has caught the imagination of researchers around the world general population, over 10% of all1st human disease shown to be caused by a cases of mental retardation repeated nucleotide sequence 8
  9. 9. Fragile X Syndrome Fragile X Syndrome Characteristics Fra X • Large prominent ears 1 in 4000 males with full mutation • Long narrow face 1 in 4000 to 6000 females with full • Macro-orchidism mutation (80% affected men) 1 in 800 men are carriers Other: hypotonia, seizures, 1 in 260 women are carriers 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 otitismedia 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) 9
  10. 10. 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 t 1…., 17% of th sample did have significant f the l h i ifi t • 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. What’s New in Fragile X Syndrome What’s New in Fragile X SyndromeBlock 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- 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 10
  11. 11. What’s New in Fragile X Syndrome AutismThe fragile X female: a case report of the visual, visual perceptual, and ocular health findings. Amin VR, Maino DM. J Am Optom The incidence of Assoc. 1995 May;66(5):Optometric findings in the fragile X syndrome. Maino DM, Wesson autism has increased M, M Schlange D, Cibis G, Maino JH. Optom Vis Sci. 1991 Aug;68(8): D G JH Sci from 1 in 10,000 in 10 000Mental retardation syndromes with associated ocular defects. Maino the 1970s to 1 in 110 DM, Maino JH, Maino SA.J Am Optom Assoc. 1990 Sep;61(9):707-16. today, an increase ofOcular anomalies in fragile X syndrome. Maino DM, Schlange D, over 6,000%. … Maino JH, Caden B. J Am Optom Assoc. 1990 Apr;61(4):316-23 Autism Autism Etiology Yeast infections Do Parents cause their children to be autistic ? Intolerance to specific food substancesThere are autistic children born to parents who do not fit the autistic parent personality pattern. (Gluten intolerance ("Leaky Gut Syndrome"/Casein intolerance causingParents who do fit the description of the supposedly pathogenic parent have normal, non-autistic intestinal permeability and allowing improperly digested peptides to enter children.Frequently siblings of autistic children are normal. the bloodstream and cross the blood-brain barrier which may mimicAutistic children are behaviorally unusual "from the moment of birth " *** from birth. neurotransmitters and result in the scrambling of sensory input. Ive also g y pThere is a consistent ratio of three or four boys to one girl. heard "Leaky Gut Syndrome" described as lack of the beneficial bacteriaVirtually all cases of twins reported in the literature have been identical, with both twins that aids digestion, and that the resulting matter in the bloodstream invokes afflicted. *** an unnecessary immune reaction)Autism can occur or be closely simulated in children with known organic brain damage. ***The symptomatology is highly unique and specific. Phenolsulphertransferase (PST) deficiency--theory that some with autism areThere is an absence of gradations of infantile autism which would low on sulphate or an enzyme that uses this, called phenol-create "blends" from normal to severely afflicted. sulphotransferase-P. This means that they will be unable to get rid of amines and phenolic compounds once they no longer have any use for them. These then stay in their body and may cause adverse effects, even in the brain. Autism Etiology Autism Etiology Brain injury, Constitutional vulnerabilityDevelopmental aphasia , Deficits in the reticular activating system, An unfortunate interplay between psychogenic and b t h i d neurodevelopmental factors, Structural My Goodness! cerebellar changes, Genetic causes, Viral Maino DM, Viola, SG, Donati R. The Etiology of Autism. Optom Vis causes, Immunological ties, Vaccines, Dev 2009:(40)3:150-156. Seizures 11
  12. 12. Autism Etiology Autism Impairment in social interactions What the research Impairment in communication shows… Restricted repertoire of activities Autism Autism Asperger Childhood Syndrome Childhood g Disintegrative g Disintegrative Disorder Autism A ti Disorder Rett Syndrome Autism US FDA Statement AutismIOM Report: No Link Between Vaccines and Autism Thompson WW, Price C, Goodson B, Shay DK, Benson P, HinrichsenBy Michelle Meadows VL, et al. Early thimerosal exposure and neuropsychological outcomes at 7 to 10 years. N Engl J Med. 2007 Sep 27;357(13):1281-92There is no link between autism and themeasles-mumps-rubella (MMR) vaccine or the Childhood Childhood i g Disintegrativevaccine preservative thi Disorder ti thimerosal, according to a l di t Our study does not support g Disintegrative Disorderreport released by the Institute of Medicines a causal association between early(IOM) Immunization Safety Review exposure to mercury from thimerosal-containing vaccines and immuneCommittee. globulins and deficits in neuropsychological functioning at the age of 7 to 10 years. 12
  13. 13. Autism SummaryAndrew Wakefield (born 1956) is a British formersurgeon and researcher best known for his discreditedwork regarding the MMR vaccine and its claimed connection Childhood Disintegrative ith gwith autism and i fl Disorder d inflammatory bowel disease. Wakefield was the lead author t b l di W k fi ld th l d thof 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 not Autism?prove 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“. Mental Retardation without Specific Etiology Mental Retardation Classification Most frequently encountered form of Intellectual Classification IQ Disability Mild/Educable Mentally Handicapped 50-70 Moderate/Trainable Mentally Handicapped 35-55 4000 k O li Mendelian Inheritance known Online M d li I h i Severe 20-40 in Man Profound below 20 10 times that are unknown! Acquired/Traumatic Brain Injury Acquired/Traumatic Brain InjuryNeuroplasticity Neuroplasticity & RehabilitationMaino D. Neuroplasticity: Teaching an Old Brain New Tricks. Rev Optom Use it or lose it. If you do not drive specific brain functions, functional 2009. 46(1):62-64,66-70. loss will occur. ( Use it and improve it. Therapy that drives cortical function enhances that particular function. ti l f ti 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. 13
  14. 14. Acquired/Traumatic Brain Injury Acquired/Traumatic Brain InjuryNeuroplasticity & Rehabilitation Post Trauma Vision Syndrome Symptoms/SignsTime matters. Different forms of plasticity take place at different times during therapy. Double visionSalience matters. It has to be important to the individual. HeadachesAge matters Plasticity is easier in a younger brain, but is also possible in an matters. brain adult brain. Blurred visionTransference. Neuroplasticity, and the change in function that results from Dizziness or nausea one therapy, can augment the attainment of similar behaviors.Interference. Plasticity in response to one experience can interfere with the Light sensitivity acquisition of other behaviors. Attention or concentration difficultiesKleim 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. Acquired/Traumatic Brain Injury Acquired/Traumatic Brain Injury • Staring behavior (low blink rate) • Pulls away from objects when they are • Spatial disorientation brought close to them • Losing place when reading • Exotropia or high exophoria • Can’t find beginning of next line when •AAccommodative i ffi i d ti insufficiency reading • Convergence insufficiency • Comprehension problems when reading • Poor fixations and pursuits • Visual memory problems • Unstable peripheral vision Acquired/Traumatic Brain Injury Acquired/Traumatic Brain Injury • Associated neuromotor Visual Midline Shift Syndrome difficulties with balance, • Dizziness or nausea coordination and posture p • Spatial disorientation p • Perceived movement of • Consistently stays to one side of stationary objects hallway or room • Bumps into objects when walking 14
  15. 15. Acquired/Traumatic Brain Injury Acquired/Traumatic Brain Injury Visual Midline Shift Syndrome References • Poor walking or posture: leans back on TBI a Major Cause of Disability heels, forward, or to one side when by Marc B. Taub, OD, FAAO, FCOVD walking, standing or seated in a chair lki t di t di h i Clinical O l Cli i l Oculomotor Training in Traumatic Brain t T i i i T ti B i Injury by Kenneth J. Ciuffreda, OD, PhD, FAAO, • Perception of the floor being tilted FCOVD-A, Diana P. Ludlam, BS, COVT, Neera • Associated neuromotor difficulties with Kapoor, OD, MS, FAAO balance, coordination and posture Acquired/Traumatic Brain Injury Acquired/Traumatic Brain Injury References References• Myopia and Accommodative Insufficiency • Oculo-Visual Evaluation of the Patient with Associated with Moderate Head Trauma Traumatic Brain Injury by Steve Leslie B Optom FACBO FCOVD Leslie, Optom, FACBO, by Maria Mandese, OD Mandese• Neuro-Optometry and the United States Legal • Traumatic Brain Injury and Binasal Occlusion System by Alissa Proctor, OD by Theodore S. Kadet, OD, FCOVD, R. E. Bodkin, JD, MBA, Attorney-at-Law 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 (f ) 312 949 7280 ( h ) 312 949 7660 (fax) 15