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Diagnosis and Management of Special Populations 2010


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Diagnosis and Management of Special Populations presents the latest in the assessment and treatment of those with physical, cognitive, and behavioral abnormalities. Up to date information concerning …

Diagnosis and Management of Special Populations presents the latest in the assessment and treatment of those with physical, cognitive, and behavioral abnormalities. Up to date information concerning the etiology, prevalence/incidence and physical/cognitive findings of individuals with developmental/acauired disabilities (Cerebral palsy, Down syndrome, Fragile X syndrome, autism, acquired/traumatic brain injury) will be discussed. New diagnostic and treatment techniques are reviewed. The eye care practitioner will be able to confidently provide eye and vision care for those with disability at the end of this presentation.

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  • 1. Diagnosis & Management of Special Populations Part I 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) Syndromes Diagnosis & Treatment Examples of Care 1
  • 2. Syndromes • Cerebral Palsy • Down Syndrome • Fragile X Syndrome • Autism • Mental Retardation/Intellectual Disability • Acquired/Traumatic Brain Injury 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? 2
  • 3. Cerebral Palsy • Cerebral Palsy is a persistent, but not unchanging, disorder of movement and posture appearing in the early years of life due to traumatic or inflammatory brain damage. • Affects virtually all motor systems • Can be acquired Cerebral Palsy Etiology • Prenatal • Intrauterine infections • Congenital malformations • Toxic or teratogenic agents • Multiple births • Abdominal trauma • Maternal illness Cerebral Palsy Etiology • Neonatal • Prematurity (less than •Bradycardia and hypoxia 32 weeks' gestation) •Seizures • Birthweight less than •Hyperbilirubinemia 2500 g •Abnormal birthing • Growth retardation presentations • Intracranial hemorrhage • Trauma • Infection 3
  • 4. Cerebral Palsy Etiology • Postnatal • Trauma • Infection • Intracranial hemorrhage • Coagulopathies Cerebral Palsy Incidence/Prevalence • Incidence 2-4/1000 live births • Prevalence 1.5-2/1000 live • births 10% of cases are acquired (trauma) • Normal life spans, 40% live to age 40, many living into their senior years • > 1/2 million individual with CP living in USA 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 • There are 550,000-764,000 persons in the USA with cerebral palsy • The number of new cases have increased 25% during the past decade (1990’s) • There are now 10,000 new cases/year. • Average lifetime cost per person of $921,000 (in 2003 dollars) 4
  • 5. Cerebral Palsy Classifications • Spastic - 70-80% • Dyskinetic/Athetoid - 10-15% • Ataxic - <5% • Mixed Cerebral Palsy Classifications • Spastic (Most frequently encountered) • Pyramidal cells & tracts • Muscle stiffness & spasticity • Depressed inhibition • Muscle co-contracture, hypertonicity, irritability • Spastic Diplegia most common in preterm infants • Spastic hemiplegia most common in full term infants Cerebral Palsy Classification • Diskentic/Athetoid (Second most frequently encountered) • Basal ganglia • Slow, writhing movements (hallmark) • Unsteady balance, gait • Involuntary, irregular head, neck, facial movements • Rh incompatibility main etiology 5
  • 6. Cerebral Palsy Classification • Ataxic (Third most frequently encountered) • Cerebellum • Major sign: fine motor dysfunction, general unsteadiness • At least one form of ataxic cerebella CP may be due to consanguinity Cerebral Palsy Classification Cerebral Palsy Classification Magnetic resonance imaging (MRI) scan of a 16- month-old boy who was born at term but had an anoxic event at delivery. Examination findings are consistent with a spastic quadriplegic cerebral palsy with asymmetry (more prominent right-sided deficits). Cystic encephalomalacia in the left temporal and parietal regions, delayed myelination, decreased white matter volume, and enlarged ventricles can be seen. These findings are most likely the sequelae of a neonatal insult (eg, periventricular leukomalacia with a superimposed, left-sided cerebral infarct). 6
  • 7. Cerebral Palsy Visual Characteristics Wesson M, Maino D. Oculovisual findings in children with Down syndrome, Cerebral Palsy, and mental retardation without specific etiology. In Maino, D. (ed) Diagnosis and management of special populations. 1995. St. Louis, Mo. , Mosby-Yearbook Inc.:17-54. • Binocular acuity could be evaluated in 45% of individuals below age 13 • For CP patients VAs are generally decreased when compared to those measured for individuals with Down Syndrome • Much higher incidence of ocular disease and neurological dysfunction Cerebral Palsy Refractive Characteristics Scheiman MM. Optometric findings in children with cerebral palsy. Am J Optom Physiol Opt 1984;61:321-333 • 60% significant refractive error • Hyperopia (>+1.50) 3X more common among CP children than in non-affected individuals • Other studies (Black, Breakey et al, Duckman, LoCasio) support increased refractive error being present Cerebral Palsy Refractive Characteristic • Hyperopia present 3Xs more than when compared to myopia • Wesson & Maino note: • many more hyperopes than myopes • average amount of significant myopia is greater 7
  • 8. Cerebral Palsy Binocular Characteristics • Prevalence of strabismus exceeds that of general population by a factor of 10! • Slightly more esotropia than exotropia • Dyskinetic Strabismus • slow tonic deviation similar to vergence • change from ET to XT • usually associated with athetoid classification Cerebral Palsy Ocular Health • Nystagmus • Optic nerve atrophy • Cortical blindness • Cataract • Fundus anomalies • Microphthalmos • Corneal anomalies Cerebral Palsy Positioning How you position the patient will determine what information you obtain and the quality of that information. Ask the patient’s parents, care-givers, and therapists for positioning suggestions. Have multiple bolsters, pillows, cushions available. 8
  • 9. Cerebral Palsy Examination Tips • Positioning • Right tools (objective assessment) • No sudden movement • No loud, unexpected noises • Speak smoothly, soothingly, softly….if appropriate, sing to the patient! • Smile, smile SMILE!!! Cerebral Palsy Saunders KJ, McClelland JF, Richardson PM, Stevenson M. Clinical judgment of near pupil responses provides a useful indicator of focusing ability in children with cerebral palsy. Dev Med Child Neurol. 2008 Jan;50(1):33-7. Accommodation is often reduced in cerebral palsy (CP). Knowledge about accommodative facility is valuable when investigating a child's visual needs and developing strategies for education. …. We compared quality of near pupil responses (NPR) with objective measures of accommodative function obtained with dynamic retinoscopy (DR) to investigate the utility of NPR in indicating accommodative facility … NPR provides a rapid, useful indicator of accommodative function in children with CP. Cerebral Palsy Barca L, Cappelli FR, Di Giulio P, Staccioli S, Castelli E. Outpatient assessment of neurovisual functions in children with Cerebral Palsy. Res Dev Disabil. 2010 Mar- Apr;31(2):488-95. Epub 2009 Dec 5. This study examined the feasibility of the Atkinson Battery for Child Development for Examining Functional Vision to evaluate neurovisual functions of children with neurodevelopmental disorders in outpatient setting. ….Overall, 73% patients had impairments at the assessment protocol, the majority of which presenting difficulties on both visuoperceptual and visuospatial tasks (79%). Subgroups of participants presented similar profiles of impairments with spared basic visuocognitive abilities and limitations in visuoperceptual and visuospatial domains. … 9
  • 10. 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. To describe refractive status in children and young adults with cerebral palsy (CP) and relate refractive error to standardized measures of type and severity of CP impairment and to ocular dimensions. … A significantly higher prevalence and magnitude of refractive error was found in the CP group compared to the control group. … There was no relation between the presence or magnitude of spherical refractive errors in CP and the level of motor impairment, intellectual impairment. Higher spherical refractive errors were significantly associated with the nonspastic CP ment, or the presence of communication difficulties. subtype. The presence and magnitude of astigmatism were greater when intellectual impairment was more severe, and astigmatic errors were explained by corneal dimensions. …. High refractive errors are common in CP, pointing to impairment of the emmetropization process. …. Cerebral Palsy McClelland JF, Parkes J, Hill N, Jackson AJ, Saunders KJ. Accommodative dysfunction in children with cerebral palsy: a population-based study. Invest Ophthalmol Vis Sci. 2006 May;47(5):1824-30. CONCLUSIONS: Brain injury such as that present in CP has a significant impact on accommodative function. These findings have implications for the optometric care of children with CP and inform our understanding of the impact of early brain injury on visual development. Cerebral Palsy Ross LM, Heron G, Mackie R, McWilliam R, Dutton GN. Reduced accommodative function in dyskinetic cerebral palsy: a novel management strategy. Dev Med Child Neurol. 2000 Oct;42(10):701-3. Links A 9-year-old boy with dyskinetic cerebral palsy secondary to neonatal encephalopathy is described. He presented with blurring of near vision which had begun to impact on his school work. Objective assessment of accommodation showed that very little was present, although convergence was almost normal. The near-vision symptoms were completely removed and reading dramatically improved with the provision of varifocal spectacles. Varifocal lenses provide an optimal correction for far, intermediate (i.e. for computer screens), and near distances (i.e. for reading). Managing this type of patient with varifocal spectacles has not been previously reported. It is clearly very important to prescribe an optimal spectacle correction to provide clear vision to optimize learning. 10
  • 11. Down Syndrome • What is it? • What is it’s etiology? • What is it’s prevalence/incidence? • What are it’s physical/visual characteristics? Down Syndrome • Langdon Down 1866 • “Mongolism” no longer used • Most common genetic anomaly • Variable levels of ability & disability 11
  • 12. Down Syndrome • Down syndrome is the most commonly occurring genetic condition. One in every 800 to 1,000 live births is a child with Down syndrome, representing approximately 5,000+ births per year in the United States alone. Today, Down syndrome affects more than 350,000 people in the United States. Down Syndrome Prevalence/Incidence • 1 in 800-1000 live births • 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) 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. 12
  • 13. Down Syndrome Etiology • Genetics: Trisomy 21 Down Syndrome Physical Features • Short stature, brachycephalic skull, flat occiput • Low-set ears, flat nasal bridge, protruding tongue (big tongue, small oral cavity) • Dental anomalies, short stubby hands/feet • Dry skin, abdominal protuberance • Alzheimer’s (25%), heart defects, MR, leukemia • Life expectancy 55 yrs Down Syndrome Ocular Features • Oblique palpebral fissures, strabismus • Moderate/high refractive error • Keratoconus, broad epicanthal folds • Brushfields spots 85% (pale, grey irregular discolorations in the mid- periphery of the iris, connective tissue condensations of the anterior stromal layer. Confused with Wolfflin nodules. Smaller, more peripherally placed, last role of the iris, not in iris crypt/furrow) 13
  • 14. Down Syndrome Ocular Features • Iris hypoplasia • Spoked vessel pattern at optic disc (makes disc appear hyperemic) • Retinal pigment epithelial disturbances at disc margin (New finding: Wesson & Maino) with 8% PRE drop out Down Syndrome Visual Acuity (Wesson & Maino) • 76% required Teller Acuity Cards or OKN drum • 3% responded to Snellen • Have multiple VA assessment tools available Down Syndrome Refractive Error • Many more hyperopes than myopes, but those with myopia tended to have higher magnitudes • Up to 49% may exhibit some astigmatism 14
  • 15. Down Syndrome Binocular Characteristics • 23-44% have strabismus • (Wesson & Maino) The individual with 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 Down Syndrome Ocular Health • Blepharitis • Keratoconus • Cataract (age related, noted in DS children over the age of 9, flake appearance) • Conditions associated with high myopia From: Down Syndrome 15
  • 16. 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. What’s New in Down Syndrome Al-Bagdady M, Stewart RE, Watts P, Murphy PJ, Woodhouse JM. Bifocals and Down's syndrome: correction or treatment? Ophthalmic Physiol Opt. 2009 Jul;29(4):416-21. Epub 2009 May 11. Accommodation is reduced in approximately 75% of children with Down's syndrome (DS). Bifocals have been shown to be beneficial and they are currently prescribed regularly.. … Bifocals are an effective correction for the reduced accommodation in children with DS and also act to improve accommodation with a success rate of 65%. …. What’s New in Down Syndrome Haugen OH, Hovding G, Eide GE. Biometric measurements of the eyes in teenagers and young adults with Down syndrome.Acta Ophthalmol Scand. 2001 Dec;79(6):616-25. CONCLUSIONS: Thinning of the corneal stroma may account for the steeper cornea and the high frequency of astigmatism in Down syndrome due to lower corneal rigidity. It may also be of etiological importance to the increased incidence of keratoconus in Down syndrome. 16
  • 17. Haugen OH, Hovding G, Lundstrom I.Refractive development in children with Down's syndrome: a population based, longitudinal study.Br J Ophthalmol. 2001 Jun;85(6):714-9. CONCLUSION: A stable, low grade hypermetropia was significantly correlated with a normal accommodation. Accommodation weakness may be of aetiological importance to the high frequency of refractive errors encountered in patients with Down's syndrome. A striking right-left specificity in the oblique astigmatic eyes suggests that mechanical factors on the cornea from the upward slanting palpebral fissures may be a major aetiological factor in the astigmatism. Stewart RE, Woodhouse JM, Cregg M, Pakeman VH. Association between accommodative accuracy, hypermetropia, and strabismus in children with Down's syndrome Optom Vis Sci. 2007 Feb;84(2):149-55. CONCLUSIONS: This study demonstrates the marked association between under-accommodation, hypermetropia, and strabismus in children with Down's syndrome. No causal relation can be demonstrated with these data, but findings suggest that the link between under-accommodation and hypermetropia (and between accurate accommodation and emmetropia) is present in early infancy. Haugen OH, Hovding G.Strabismus and binocular function in children with Down syndrome. A population-based, longitudinal study.Acta Ophthalmol Scand. 2001 Apr;79(2):133-9. CONCLUSIONS: The majority of the Down syndrome children with strabismus have an acquired esotropia and hence a potential for binocularity. Hypermetropia and accommodation weakness are probably important factors in esotropia in Down syndrome patients. 17
  • 18. Stewart RE, Margaret Woodhouse J, Trojanowska LD. In focus: the use of bifocal spectacles with children with Down's syndrome.Ophthalmic Physiol Opt. 2005 Nov;25(6):514-22 CONCLUSIONS: Bifocals confer benefit to children with Down's syndrome who under-accommodate, both directly (better focusing through the bifocal) and indirectly (by encouraging improved accommodation through the distance part of the lens). Based on the results of this study, eye examinations of children with Down's syndrome should routinely include a measure of accommodation at near, and bifocal spectacles should be considered for those who show under-accommodation. Fragile X Syndrome • What is it? • What is it’s etiology? • What is it’s prevalence/incidence? • What are it’s physical/visual characteristics? 18
  • 19. Fragile X Syndrome • Most frequently encountered inherited form of mental retardation (X-linked MR) • Often misdiagnosed in the past • “New” syndrome that has caught the imagination of researchers around the world • 1st human disease shown to be caused by a repeated nucleotide sequence Fragile X Syndrome • X-linked MR 1 in 500 males, 1 in 250 females (females at risk as carriers) • Fra X 1 in 8000 males, 1 in 4000 females • 1 in 625 females may carry the gene! • 20% males not affected (transmitting males) • 30% heterozygous females affected • Associated with all races, ethnic groups, other disabilities (autism, Down syndrome, etc.) Fragile X Syndrome • 6.2% of institutionalized males • 25-50% of X-linked retarded male population If you work with individuals with developmental disability, you have already evaluated children and adults with Fragile X Syndrome 19
  • 20. Fragile X Syndrome Characteristics • Connective tissue anomalies • Hyperextensible joints • Mitral valve prolapse • Prognathism • Facial asymmetry • Prominent forehead • Flat feet Fragile X Syndrome Characteristics • Connective tissue anomalies • Hyperextensible joints • Mitral valve prolapse • Prognathism • Facial asymmetry • Prominent forehead • Flat feet Fragile X Syndrome Characteristics • Connective tissue anomalies • Hyperextensible joints • Mitral valve prolapse • Prognathism • Facial asymmetry • Prominent forehead • Flat feet 20
  • 21. Fragile X Syndrome Characteristics • Hand calluses • Palmer creases • Hallucal creases • Hypotonia • Doliocephaly • Pectus excavatum Fragile X Syndrome Characteristics Most important!! • Large prominent ears • Long narrow face • Macro-orchidism (80% affected men) Other: hypotonia, seizures, recurrent otitis media Fragile X Syndrome Characteristics Most important!! • Large prominent ears • Long narrow face • Macro-orchidism (80% affected men) Other: hypotonia, seizures, recurrent otitis media 21
  • 22. Fragile X Syndrome Characteristics Most important!! • Large prominent ears • Long narrow face • Macro-orchidism (80% affected men) Other: hypotonia, seizures, recurrent otitis media 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) Fragile X Syndrome Characteristics Gaze Avoidance How do you conduct an examination on an individual that won’t look at you? 22
  • 23. Physical Characteristics From: basic.html 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) 23
  • 24. Fragile X Syndrome Ocular Findings • Strabismus (33-50%) • Nystagmus • Refractive error • Accommodative dysfunctions? • Oculomotor anomalies • Ocular Health? • Perceptual dysfunction Fragile X Syndrome Check List Feature Not Present Borderline Present Score 0 1 2 Mental Retardation Hyperactivity Short Attention Span Tactile Defensiveness 45% of those with a score of 16 or higher Hand Flapping are positive for fra X Hand Biting Poor Eye Contact 60% of those with a score of 19 or higher Perserverative Speech are positive for fra X Hyperextensible Joints Large Ears Large Testicles Simian Crease Family Hx MR What’s New in Fragile X Syndrome • Hatton DD, Buckley E, Lachiewicz A, Roberts J. Ocular status of boys with fragile X syndrome: a prospective study. J AAPOS. 1998 Oct;2(5):298-302. These results suggest that previous reports of high rates of vision problems, particularly strabismus, in boys with fragile X syndrome may have resulted from selection bias. Although we did observe a higher prevalence of strabismus than that found in the general population (8% vs 0.5% to 1%), the proportion of children having strabismus in our sample was much smaller than that reported in other studies of children with fragile X syndrome (30% to 40%). However, 17% of the sample did have significant refractive errors. 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 . 24
  • 25. 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 skills and their relationship to mutation size in full and premutation female fragile X carriers.Optom Vis Sci. 2000 Nov;77(11):592-9. BACKGROUND: The fragile X gene contains an unstable trinucleotide (CGG) repeat that expands as it is passed from female carriers to the affected offspring. Obligate female carriers may have a premutation or full mutation genotype. METHODS: In this study, fragile X premutation and full mutation female carriers were compared on three tasks of visual processing and cognitive skills. RESULTS: In each case, there were significant differences between premutation and full mutation carriers on a number of the subtests or the full test scores. Specifically, 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. CONCLUSIONS: These findings have implications in educational planning decisions for full mutation carriers who may present with specific cognitive deficits. What’s New in Fragile X Syndrome Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial. Berry-Kravis E, Krause SE, Block SS, Guter S, Wuu J, Leurgans S, Decle P, Potanos K, Cook E, Salt J, Maino D, Weinberg D, Lara R, Jardini T, Cogswell J, Johnson SA, Hagerman R. J Child Adolesc Psychopharmacol. 2006 Oct;16(5):525-40.PMID: 17069542 Cognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriers. Block SS, Brusca-Vega R, Pizzi WJ, Berry-Kravis E, Maino DM, Treitman TM. Optom Vis Sci. 2000 Nov;77(11):592-9.PMID: 11138833 The fragile X female: a case report of the visual, visual perceptual, and ocular health findings. Amin VR, Maino DM. J Am Optom Assoc. 1995 May;66(5): Optometric findings in the fragile X syndrome. Maino DM, Wesson M, Schlange D, Cibis G, Maino JH. Optom Vis Sci. 1991 Aug;68(8): Mental retardation syndromes with associated ocular defects. Maino DM, Maino JH, Maino SA. J Am Optom Assoc. 1990 Sep;61(9):707-16. Ocular anomalies in fragile X syndrome. Maino DM, Schlange D, Maino JH, Caden B. J Am Optom Assoc. 1990 Apr;61(4):316-23 Autism The incidence of autism has increased from 1 in 10,000 in the 1970s to 1 in 150 today, an increase of over 6,000%. Many more children have been diagnosed with other neurodevelopmental disorders all considered to be on the same spectrum including Asperger's, ADHD/ADD, speech delay, and many other developmental delays and learning disabilities. 25
  • 26. Autism Do Parents cause their children to be autistic ? There are autistic children born to parents who do not fit the autistic parent personality pattern. Parents who do fit the description of the supposedly pathogenic parent have normal, non-autistic children. Frequently siblings of autistic children are normal. Autistic children are behaviorally unusual "from the moment of birth." *** There is a consistent ratio of three or four boys to one girl. Virtually all cases of twins reported in the literature have been identical, with both twins afflicted. *** Autism can occur or be closely simulated in children with known organic brain damage. *** The symptomatology is highly unique and specific. There is an absence of gradations of infantile autism which would create "blends" from normal to severely afflicted. Autism Etiology Yeast infections Intolerance to specific food substances (Gluten intolerance ("Leaky Gut Syndrome"/Casein intolerance causing intestinal permeability and allowing improperly digested peptides to enter the bloodstream and cross the blood- brain barrier which may mimic neurotransmitters and result in the scrambling of sensory input. I've also heard "Leaky Gut Syndrome" described as lack of the beneficial bacteria that aids digestion, and that the resulting matter in the bloodstream invokes an unnecessary immune reaction) Phenolsulphertransferase (PST) deficiency--theory that some with autism are low on sulphate or an enzyme that uses this, called phenol-sulphotransferase-P. This means that they will be unable to get rid of amines and phenolic compounds once they no longer have any use for them. These then stay in their body and may cause adverse effects, even in the brain. Autism Etiology Brain injury Constitutional vulnerability Developmental aphasia Deficits in the reticular activating system An unfortunate interplay between psychogenic and neurodevelopmental factors Structural cerebellar changes Genetic causes Viral causes Immunological ties Vaccines Seizures 26
  • 27. Autism Etiology My Goodness! Maino DM, Viola, SG, Donati R. The Etiology of Autism. Optom Vis Dev 2009:(40)3:150-156. Autism Etiology What the research shows… Autism Impairment in social interactions Impairment in communication Restricted repertoire of activities 27
  • 28. Autism Asperger Childhood Syndrome Disintegrative Disorder Autism Rett Syndrome Autism Childhood Disintegrative Disorder Autism Cohly HH, Panja A. Immunological findings in autism. Int Rev Neurobiol. 2005;71:317-41. Mercury and an infectious agent like the measles virus are currently two main candidate “ environmental triggers for immune dysfunction in autism…” “Studies showing elevated brain specific antibodies in autism support an autoimmune Childhood Viruses may initiate the process but the subsequent activation of cytokines is the mechanism. Disintegrative associated with autism. Virus specific antibodies associated with measles damaging factor Disorder been demonstrated in autistic subjects. Environmental exposure to mercury is virus have believed to harm human health possibly through modulation of immune homeostasis. A mercury link with the immune system has been postulated due to the involvement of postnatal exposure to thimerosal, a preservative added in the MMR vaccines.” 28
  • 29. Autism Adams JB, George F, Audhya T.Abnormally high plasma levels of vitamin b(6) in children with autism not taking supplements compared to controls not taking supplements. J Altern Complement Med. 2006 Jan- Feb;12(1) Childhood Disintegrative Conclusions: Total vitamin B(6) is abnormally high in autism, consistent Disorder with previous reports of an impaired pyridoxal kinase for the conversion of pyridoxine and pyridoxal to PLP. This may explain the many published studies of benefits of high-dose vitamin B(6) supplementation in some children and adults with autism. Autism Strambi M, Longini M, Hayek J, Berni S, Macucci F, Scalacci E, Vezzosi P. Magnesium profile in autism. Biol Trace Elem Res. 2006 Feb;109(2): Childhood The aim of the present study was to determine and compare plasma and erythrocyte Disintegrative concentrations of magnesium in 12 autistic children (10 boys, 2 girls), 17 children with other autistic spectrum disorders (14 boys, 3 girls), 5 girls with classic Rett syndrome, and Disorder 14 normal children (7 boys, 7 girls) of the same age. No differences in intracellular Mg were found between controls and pathological subjects; however, autistic children and children with other autistic spectrum disorders had significantly lower plasma concentrations of Mg than normal subjects (p=0.013 and p=0.02, respectively). Although our study population was small, we conclude that children with autistic spectrum disorders require special dietary management. If these cases are diagnosed at an early stage, they can be helped through diet. Autism Palmer RF, Blanchard S, Stein Z, Mandell D, Miller C Environmental mercury release, special education rates, and autism disorder: an ecological study of Texas. Health Place. 2006 Jun;12(2) Childhood The association between environmentally released mercury, special education and autism rates in Texas was investigated using data from the Texas Education Department and the United States Disintegrative Environmental Protection Agency. A Poisson regression analysis adjusted for school district Disorder population size, economic and demographic factors was used. There was a significant increase in the rates of special education students and autism rates associated with increases in environmentally released mercury. On average, for each 1,000 lb of environmentally released mercury, there was a 43% increase in the rate of special education services and a 61% increase in the rate of autism. The association between environmentally released mercury and special education rates were fully mediated by increased autism rates. This ecological study suggests the need for further research regarding the association between environmentally released mercury and developmental disorders such as autism. These results have implications for policy planning and cost analysis. 29
  • 30. Autism Demicheli V, Jefferson T, Rivetti A, Price D. Vaccines for measles, mumps and rubella in children. Cochrane Database Syst Rev. 2005 Oct 19;(4) MAIN RESULTS: MMR was associated with a lower incidence of upper respiratory tract infections, Childhood a higher incidence of irritability, and similar incidence of other adverse effects compared to placebo. Disintegrative The vaccine was likely to be associated with benign thrombocytopenic purpura, parotitis, joint and limb complaints, febrile convulsions within two weeks of vaccination and aseptic meningitis Disorder (mumps)… Exposure to MMR was unlikely to be associated with Crohn's disease, ulcerative colitis, autism or aseptic meningitis (mumps). We could not identify studies assessing the effectiveness of MMR that fulfilled our inclusion criteria even though the impact of mass immunisation on the elimination of the diseases has been largely demonstrated. AUTHORS' CONCLUSIONS: The design and reporting of safety outcomes in MMR vaccine studies, both pre- and post-marketing, are largely inadequate. The evidence of adverse events following immunization with MMR cannot be separated from its role in preventing the target diseases. Autism Zimmerman RK, Wolfe RM, Fox DE, Fox JR, Nowalk MP, Troy JA, Sharp LK. Vaccine criticism on the World Wide Web .J Med Internet Res. 2005 Jun 29;7(2):Jun 29;7(2):e17. RESULTS: The most common characteristic of vaccine-critical websites was the inclusion of statements linkingChildhoodwith specific adverse reactions, especially idiopathic chronic diseases such as vaccinations multiple sclerosis, autism, and diabetes. Other common attributes were links to other vaccine-critical Disintegrative websites; charges that vaccines contain contaminants, mercury, or "hot lots" that cause adverse events; claims Disorder provide only temporary protection and that the diseases prevented are mild; appeals that vaccines for responsible parenting through education and resisting the establishment; allegations of conspiracies and cover-ups to hide the truth about vaccine safety; and charges that civil liberties are violated through mandatory vaccination. CONCLUSIONS: Vaccine-critical websites frequently make serious allegations. With the burgeoning of the Internet as a health information source, an undiscerning or incompletely educated public may accept these claims and refuse vaccination of their children. As this occurs, the incidence of vaccine-preventable diseases can be expected to rise. Autism US FDA Statement IOM Report: No Link Between Vaccines and Autism By Michelle Meadows There is no link between autism and the measles-mumps-rubella (MMR) vaccine or the vaccine preservative thimerosal, according to a report released by the Institute of Medicine's (IOM) Immunization Safety Review Committee. Childhood The report, released in May 2004, was prepared by a committee of independent experts Disintegrative established by the IOM in 2001 at the request of the Centers for Disease Control and Prevention Disorder (CDC) and the National Institutes of Health (NIH) to evaluate evidence on potential links between childhood vaccines and health problems. The agencies explored the issue because of growing controversy and questions from the public about vaccine safety. … Other concerns the committee looked at include the use of thimerosal, a mercury-based compound used as a vaccine preservative, because many forms of mercury are known to damage the nervous system in high doses. 30
  • 31. Autism Siklos S, Kerns KA. Assessing the diagnostic experiences of a small sample of parents of children with autism spectrum disorders. Res Dev Disabil. 2006 Jan 24 Childhood Disintegrative Although no Canadian studies have been conducted, studies suggest parents of children with autism experience difficulties obtaining a diagnosis for their child. Fifty-six parents of Disorder children with autism completed three questionnaires providing information on the families' demographics, parents' experiences throughout the diagnostic process, and their child's autistic symptomatology. These parents experienced significant difficulties obtaining a diagnosis for their child. Parents saw an average of 4.5 professionals, and waited almost 3 years to receive a diagnosis following their first visit to a professional regarding their child's development. The impact of autistic symptomatology on the diagnostic process is discussed. Autism Thompson WW, Price C, Goodson B, Shay DK, Benson P, Hinrichsen VL, et al. Early thimerosal exposure and neuropsychological outcomes at 7 to 10 years. N Engl J Med. 2007 Sep 27;357(13):1281-92 Childhood CONCLUSIONS: Our study does not support a causal association between Disintegrative early exposure to mercury from thimerosal-containing vaccines and immune Disorder globulins and deficits in neuropsychological functioning at the age of 7 to 10 years. Autism Andrew Wakefield (born 1956) is a British former surgeon and researcher best known for his discredited work regarding the MMR vaccine and its claimed connection with autism and inflammatory bowel disease. Wakefield was the lead author of a 1998 study, published in The Lancet, which Childhood reported bowel symptoms in twelve children diagnosed with autism Disintegrative spectrum disorders, to which the authors suggested a possible link with the Disorder MMR vaccine. Though stating "We did not prove an association between measles, mumps, and rubella vaccine and the syndrome described," the paper tabulated parental allegations, and adopted these allegations as fact for the purpose of calculating a temporal link between receipt of the vaccine and the first onset of what were described as "behavioural symptoms“. 31
  • 32. Autism Dr Andrew Wakefield struck off medical register Andrew Wakefield, the doctor who triggered the MMR vaccine scare, has been struck off the medical register. After nearly three years of formal investigation by the General Medical Council (GMC), Dr Wakefield has been found guilty of serious professional misconduct over “unethical” research that sparked unfounded fears that the vaccine was linked to bowel disease and autism. Parents were advised yesterday that it was “never too late” to Childhood give their children the triple vaccine to protect against measles, mumps and rubella, as the case drew to a close…. The Disintegrative decision marks the culmination of the longest medical misconduct hearing in the GMC’s 150-year history, which has been going on since July 2007. … Disorder Announcing the final verdicts, Surendra Kumar, chair of the GMC’s fitness to practise panel, said that Dr Wakefield had been “irresponsible”, “misleading” and “dishonest”, in the way in which he carried out and presented the study, which involved carrying out unnecessary and invasive tests on children without official permission. The Lancet, which had withdrawn contested parts of the paper in 2004, subsequently retracted the article in full. Dr Wakefield, who moved to America in 2001 Summary Autism? Mental Retardation without Specific Etiology • Most frequently encountered form of MR • 4000 known Mendelian Characteristics in Man • 10 times that are unknown! 32
  • 33. Mental Retardation Classification Classification IQ • Mild/Educable Mentally Handicapped 50-70 • Moderate/Trainable Mentally Handicapped 35-55 • Severe 20-40 • Profound below 20 Acquired/Traumatic Brain Injury Neuroplasticity Maino D. Neuroplasticity: Teaching an Old Brain New Tricks. Rev Optom 2009. 46(1):62-64,66-70. ( Acquired/Traumatic Brain Injury Neuroplasticity & Rehabilitation • Use it or lose it. If you do not drive specific brain functions, functional loss will occur. • Use it and improve it. Therapy that drives cortical function enhances that particular function. • Specificity. The therapy you choose determines the resultant plasticity and function. • Repetition matters. Plasticity that results in functional change requires repetition. • Intensity matters. Induction of plasticity requires the appropriate amount of intensity. 33
  • 34. Acquired/Traumatic Brain Injury Neuroplasticity & Rehabilitation • Time matters. Different forms of plasticity take place at different times during therapy. • Salience matters. It has to be important to the individual. • Age matters. Plasticity is easier in a younger brain, but is also possible in an adult brain. • Transference. Neuroplasticity, and the change in function that results from one therapy, can augment the attainment of similar behaviors. • Interference. Plasticity in response to one experience can interfere with the acquisition of other behaviors. Kleim JA, Jones TA. Principles of experience-dependent neural plasticity: implications for rehabilitation after brain damage. J Speech Lang Hear Res 2008 Feb;51(1):S225-39. Acquired/Traumatic Brain Injury Neuroplasticity & Rehabilitation • Time matters. Different forms of plasticity take place at different times during therapy. • Salience matters. It has to be important to the individual. • Age matters. Plasticity is easier in a younger brain, but is also possible in an adult brain. • Transference. Neuroplasticity, and the change in function that results from one therapy, can augment the attainment of similar behaviors. • Interference. Plasticity in response to one experience can interfere with the acquisition of other behaviors. Kleim JA, Jones TA. Principles of experience-dependent neural plasticity: implications for rehabilitation after brain damage. J Speech Lang Hear Res 2008 Feb;51(1):S225-39. Acquired/Traumatic Brain Injury Post Trauma Vision Syndrome Symptoms/Signs • Double vision • Headaches • Blurred vision • Dizziness or nausea • Light sensitivity • Attention or concentration difficulties 34
  • 35. 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 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 Acquired/Traumatic Brain Injury • Associated neuromotor difficulties with balance, coordination and posture • Perceived movement of stationary objects 35
  • 36. Acquired/Traumatic Brain Injury • Associated neuromotor difficulties with balance, coordination and posture • Perceived movement of stationary objects 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 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 36
  • 37. Acquired/Traumatic Brain Injury References TBI a Major Cause of Disability by Marc B. Taub, OD, FAAO, FCOVD Clinical Oculomotor Training in Traumatic Brain Injury by Kenneth J. Ciuffreda, OD, PhD, FAAO, FCOVD-A, Diana P. Ludlam, BS, COVT, Neera Kapoor, OD, MS, FAAO 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 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, OD 37
  • 38. Summary • Down Syndrome • more hyperopes than myopes • when myopia is present it is in the moderate to high range • child with strabismus is a constant unilateral 20 PD ET probably due to a high ACA • numerous ocular & systemic health problems Summary • Cerebral Palsy • decreased VA compared to those with DS, Fra X or MR without specific etiology • significant hyperopia frequently encountered • More hyperopes than myopes but the average amount of myopia found is greater and fluctuates widely over time • significant ocular & systemic health findings Summary • Fragile X Syndrome • moderate to high amounts of refractive error • strabismus • perceptual problems • very variable abilities • no associated ocular disease 38
  • 39. Summary • Mental Retardation without specific etiology • refractive error typical of what you’d find in any practice • higher incidence of strabismus • routine examination procedures can be used Summary • Acquired/Traumatic Brain Injury • New way of thinking about neuro/cortical plasticity • Follow sound rehabilitation principles • Post Trauma Vision Syndrome • OM, Acc, binocularity, perception affected • Midline Visual Shift Syndrome Summary • All deserve optometric vision care • If all you do is take a detailed case history, it’s probably more than any have even attempted before • Do not underestimate the power of glasses • Be creative, use want you know, invent! • Treat (optically, functionally, medically) because we do it all! 39
  • 40. 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) 40