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PDF Handout: D Maino: Visual Diagnosis and Care of the Patient with Special Needs

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This is a copy of my handout of the lecture given in class today. (Copyright 2016). You may download and use this for any non-commercial educational purpose.

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PDF Handout: D Maino: Visual Diagnosis and Care of the Patient with Special Needs

  1. 1. 1 Visual Diagnosis and Care of the Patient with Special Needs Syndromes 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 Syndromes •Cerebral Palsy •Down Syndrome •Fragile X Syndrome •Autism •Mental Retardation/Intellectual Disability •Acquired/Traumatic Brain Injury •Mental Illness Cerebral Palsy • What is it? • What is its etiology? • What is its prevalence/incidence? • How is it classified? • What are its visual characteristics? Cerebral Palsy • Cerebral Palsy is a persistent, but not unchanging, disorder of movement and posture appearing in the early years of life due to traumatic or inflammatory brain damage. • Affects virtually all motor systems • Can be acquired
  2. 2. 2 Cerebral Palsy Etiology •Prenatal •Intrauterine infections •Congenital malformations •Toxic or teratogenic agents •Multiple births •Abdominal trauma •Maternal illness Cerebral Palsy Etiology •Postnatal •Trauma •Infection •Intracranial hemorrhage •Coagulopathies Cerebral Palsy Etiology •The etiology of Cerebral Palsy is usually a traumatic event that occurs BEFORE, DURING or just AFTER birth. ***** Cerebral Palsy Etiology • Low Birth weight and Premature Birth • Disruption of Blood and Oxygen Supply to the Developing Brain • Infection Among Mothers • Other: brain injuries from motor vehicle crashes or falls, and infections (such as meningitis) From: http://www.cdc.gov/ncbddd/cp/data.html Cerebral Palsy Incidence/Prevalence • 1.5 to more than 4 per 1,000 live births • About 1 in 323 children has been identified with CP • CP was more common among boys than girls. • More common among Black children • Hispanic and White children about equal Cerebral Palsy Incidence/Prevalence • 77.4% Spastic CP • Over half (58.2%) of the children could walk independently • Many of the children with CP also had at least one co-occurring condition—41% had co- occurring epilepsy and 6.9% had co-occurring ASD
  3. 3. 3 Cerebral Palsy Classifications •Spastic - 70-80% •Dyskinetic/Athetoid - 10- 15% •Ataxic - <5% •Mixed Cerebral Palsy Taub M, Reddell A. Cerebral Palsy. In Taub M, Bartuccio M, Maino D. (Eds) Visual Diagnosis and Care of the Patient with Special Needs; Lippincott Williams & Wilkins. New York, NY;2012:21-30 Hemiplegia 10-20% Diplegia 30-40% Quadriplegia 10-15% More likely to have oculo-visual problems 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 • Hyperopia present 3Xs more than when compared to myopia • Wesson & Maino note: • many more hyperopes than myopes • average amount of significant myopia is greater Cerebral Palsy • 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
  4. 4. 4 Cerebral Palsy Ocular Health • Nystagmus • Optic nerve atrophy • Cortical blindness • Cataract • Fundus anomalies • Microphthalmos • Corneal anomalies 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 Accommodation Pansell T1, Hellgren K, Jacobson L, Brautaset R, Tedroff K. The accommodative process in children with cerebral palsy: different strategies to obtain clear vision at short distance. Dev Med Child Neurol. 2014 Feb;56(2):171-7. doi: 10.1111/dmcn.12266. Epub 2013 Sep 4. Children with CP exhibit problems in generating an appropriate accommodative response. This can affect everyday living and reading skills. McClelland JF1, 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. significantly reduced accommodative responses 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 compared to the control 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, and astigmatic errors were explained by corneal dimensions. …. High refractive errors are common in CP, pointing to impairment of the emmetropization process. …. 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. …….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. …
  5. 5. 5 Cerebral Palsy Ross LM, Heron G, Mackie R, McWilliam R, Dutton GN. Reduced accommodative function in dyskinetic cerebral palsy: a novel management strategy. Dev Med Child Neurol. 2000 Oct;42(10):701-3. Links …. The near-vision symptoms were completely removed and reading dramatically improved with the provision of varifocal spectacles. Varifocal lenses provide an optimal correction for far, intermediate (i.e. for computer screens), and near distances (i.e. for reading). Managing this type of patient with varifocal spectacles has not been previously reported. It is clearly very important to prescribe an optimal spectacle correction to provide clear vision to optimize learning. Cerebral Palsy Interventions for Oculomotor/Hand-eye dysfunction Accommodative dysfunction Vergence dysfunction Strabismus Amblyopia Visual impairment Down Syndrome • What is it? • What is its etiology? • What is its prevalence/incidence? • What are its physical/visual characteristics? Life Goes On: Chris Burke Down Syndrome • John Langdon Down 1866 • “Mongolism” no longer used • Most common genetic anomaly • Variable levels of ability & disability Down Syndrome • Down syndrome continues to be the most common chromosomal disorder. • 6,000 babies are born with Down syndrome, which is about 1 in every 700 babies born. • Between 1979 and 2003, the number of babies born with Down syndrome increased by about 30%. • Older mothers are more likely to have a baby affected by Down syndrome than younger mothers..
  6. 6. 6 Down Syndrome At age 25, the risk of having a baby with Down syndrome is 1 in 1,250. At age 30, the risk is 1 in 1,000. At age 35, the risk is 1 in 400. At age 40, the risk is 1 in 100. At age 45, the risk is 1 in 30. http://www.marchofdimes.org/baby/down-syndrome.aspx# Down Syndrome Prevalence/Incidence • In 2002, about 1 out of every 1,000 children and teenagers (0 to 19 years old) living in the United States had Down syndrome. (83,000 children and teenagers) • Researchers estimated that in 2008 about 1 out of every 1,200 people in the United States had Down syndrome. • 250,700 children, teens, and adults were living with Down syndrome in the United States in 2008 Down Syndrome • Life expectancy in 1960 was about 10 years of age • In 2007 they lived to be about 47 years of age • 50% of all babies born with Down syndrome have a congenital heart defect • Many used to die of pneumonia as well Down Syndrome • Hearing loss (up to 75% may be affected) • Obstructive sleep apnea, (between 50 -75%) • Ear infections (between 50 -70%) • Eye diseases (up to 60%) • Eye issues requiring glasses (50%) • Intestinal blockage at birth requiring surgery (12%) Down Syndrome • Hip dislocation (6%) • Thyroid disease (4-18%) • Anemia (3%) • Iron deficiency anemia (10%) • Leukemia (1%) in infancy or early childhood • Hirschsprung disease (<1%) • Poor functioning immune system (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3074212/) From: http://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html 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.
  7. 7. 7 Down Syndrome Etiology • Genetics: Trisomy 21 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) Down Syndrome Ocular Features • Iris hypoplasia • Spoked vessel pattern at optic disc (makes disc appear hyperemic) • Retinal pigment epithelial disturbances at disc margin (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 Down Syndrome Binocular Characteristics • 23-44% have strabismus • (Wesson & Maino) The individual with Down syndrome and strabismus shows a constant unilateral esotropia of about 20 PD at near. (Greatly reduced number show ET at distance) its suggested that the etiology is a high ACA ratio rather that of a basic ET
  8. 8. 8 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 • Hyphema, Hypermature Cataract, Retinal Detachment From: http://medgen.genetics.utah.edu/photographs.htm 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 For a current review of Down syndrome see: Woodhouse M. Maino D. Down Syndrome. In Taub M, Bartuccio M, Maino D. (Eds) Visual Diagnosis and Care of the Patient with Special Needs; Lippincott Williams & Wilkins. New York, NY;2012:31-40. Functional vision disorders: Hyperopia, accommodative esotropia, accommodative insufficiency 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. … 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.
  9. 9. 9 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, … 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. 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. Fragile X Syndrome •What is it? •What is its etiology? •What is its prevalence/incidence? •What are its physical/visual characteristics? Fragile X Syndrome • Most frequently encountered inherited form of mental retardation (X-linked MR) • Often misdiagnosed in the past • “New” syndrome that has caught the imagination of researchers around the world • 1st human disease shown to be caused by a repeated nucleotide sequence Fragile X Syndrome • X-linked MR 1 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.)
  10. 10. 10 Fragile X Syndrome Nucleotide repeated sequence: CGG 230 to 4000 repeats Fragile X 60 to 230 repeats Carrier 5 to 54 repeats Unaffected Fragile X Syndrome Nucleotide Repeat Diseases Huntington's Disease Various Ataxias (10 or more) Myotonic Dystrophy 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 Fragile X Syndrome Characteristics • Hand calluses • Palmer creases • Hallucal creases • Hypotonia • Doliocephaly • Pectus excavatum
  11. 11. 11 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 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 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?
  12. 12. 12 Fragile X Syndrome Ocular Findings • 25% of the children have clinically significant ocular findings • Strabismus (8-50%) • 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. …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. … 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: …, 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. … 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.
  13. 13. 13 Autism Do Parents cause their children to be autistic ? There are autistic children born to parents who do not fit the autistic parent personality pattern. Parents who do fit the description of the supposedly pathogenic parent have normal, non-autistic children. Frequently siblings of autistic children are normal. Autistic children are behaviorally unusual "from the moment of birth." *** There is a consistent ratio of three or four boys to one girl. Virtually all cases of twins reported in the literature have been identical, with both twins afflicted. *** Autism can occur or be closely simulated in children with known organic brain damage. *** The symptomatology is highly unique and specific. There is an absence of gradations of infantile autism which would create "blends" from normal to severely afflicted. Autism Etiology Yeast infections Intolerance to specific food substances (Gluten intolerance ("Leaky Gut Syndrome"/Casein intolerance causing intestinal permeability and allowing improperly digested peptides to enter the bloodstream and cross the blood- brain barrier which may mimic neurotransmitters and result in the scrambling of sensory input. I've also heard "Leaky Gut Syndrome" described as lack of the beneficial bacteria that aids digestion, and that the resulting matter in the bloodstream invokes an unnecessary immune reaction) Phenolsulphertransferase (PST) deficiency--theory that some with autism are low on sulphate or an enzyme that uses this, called phenol-sulphotransferase-P. This means that they will be unable to get rid of amines and phenolic compounds once they no longer have any use for them. These then stay in their body and may cause adverse effects, even in the brain. Autism Etiology Brain injury Constitutional vulnerability Developmental aphasia Deficits in the reticular activating system An unfortunate interplay between psychogenic and neurodevelopmental factors Structural cerebellar changes Genetic causes Viral causes Immunological ties Vaccines Seizures Autism Etiology My Goodness! Maino DM, Viola, SG, Donati R. The Etiology of Autism. Optom 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
  14. 14. 14 Autism Autism Asperger Syndrome Rett Syndrome Childhood Disintegrative Disorder Autism Childhood Disintegrative Disorder Autism Childhood Disintegrative Disorder Autism Childhood Disintegrative Disorder 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) Conclusions: Total vitamin B(6) is abnormally high in autism, consistent 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 Childhood Disintegrative Disorder Demicheli V, Jefferson T, Rivetti A, Price D. Vaccines for measles, mumps and rubella in children. Cochrane Database Syst Rev. 2005 Oct 19;(4) …Exposure to MMR was unlikely to be associated with Crohn's disease, ulcerative colitis, autism or aseptic meningitis (mumps). … The evidence of adverse events following immunization with MMR cannot be separated from its role in preventing the target diseases. Autism Childhood Disintegrative Disorder 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. …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.
  15. 15. 15 Autism US FDA Statement Childhood Disintegrative Disorder IOM Report: No Link Between Vaccines and Autism By Michelle Meadows There is no link between autism and the measles-mumps-rubella (MMR) vaccine or the vaccine preservative thimerosal, according to a report released by the Institute of Medicine's (IOM) Immunization Safety Review Committee. http://www.fda.gov/fdac/features/2004/504_iom.html Autism Childhood Disintegrative Disorder 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 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 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 Childhood Disintegrative Disorder 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 CONCLUSIONS: Our study does not support a causal association between early exposure to mercury from thimerosal-containing vaccines and immune globulins and deficits in neuropsychological functioning at the age of 7 to 10 years. Autism Childhood Disintegrative Disorder Andrew Wakefield (born 1956) is a British former surgeon and researcher best known for his discredited work regarding the MMR vaccine and its claimed connection with autism and inflammatory bowel disease. Wakefield was the lead author of a 1998 study, published in The Lancet, which reported bowel symptoms in twelve children diagnosed with autism spectrum disorders, to which the authors suggested a possible link with the MMR vaccine. Though stating "We did not prove an association between measles, mumps, and rubella vaccine and the syndrome described," the paper tabulated parental allegations, and adopted these allegations as fact for the purpose of calculating a temporal link between receipt of the vaccine and the first onset of what were described as "behavioural symptoms“. Autism Childhood Disintegrative Disorder 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 give their children the triple vaccine to protect against measles, mumps and rubella, as the case drew to a close…. The 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. … 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 http://www.timesonline.co.uk/tol/news/uk/article7134893.ece Summary Identical twin studies show that if one twin is affected, there is up to a 90 percent chance the other twin will be affected. In families with one child with ASD, the risk of having a second child with the disorder is approximately 5 percent, or one in 20. http://www.ninds.nih.gov/disorders/autism/detail_autism.htm The exact cause of autism is not known, but research has pointed to several possible factors, including genetics (heredity); metabolic or neurological factors, certain types of infections, and problems occurring at birth. http://www.webmd.com/brain/autism/mental-health-autism?page=2#1
  16. 16. 16 Mental Retardation without Specific Etiology • Most frequently encountered form of MR •4000 known Mendelian Characteristics in Man http://www.ncbi.nlm.nih.gov/Omim/ •10 times that are unknown! Acquired/Traumatic Brain Injury Neuroplasticity Maino 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/) 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. 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 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
  17. 17. 17 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 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 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
  18. 18. 18 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 http://www.covd.org/Home/OVDJournal/OVD401/tabid/263/Default.aspx Mental Illness Schnell PH, Maino D, Jespersen R. Psychiatric Illness and Associated Oculo-visual Anomalies. In Taub M, Bartuccio M, Maino D. (Eds) Visual Diagnosis and Care of the Patient with Special Needs; Lippincott Williams & Wilkins. New York, NY;2012:111-124. Depression; Bipolar; Schizophrenia; Anxiety/Panic Attacks; Obessive Compulsive Disorder; Post Traumatic Stress Disorder Dual Diagnosis: DD with MI; Substance Abuse with MI Mental Illness Diagnosis Assessment Techniques for Special Populations Use everything you know, be creative, and trust your objective evaluation skills! Diagnosis • Preparing for the examination • greet patient by name • position yourself at patient’s eye level • be on time • consider patient’s wishes about family/friends in exam room • direct initial comments to patient • treat patient as a person first, then as an individual with a disability
  19. 19. 19 Diagnosis • Preparing for the examination • speak clearly • listen carefully • use short command sentences • “look here” • “do this” • “watch my light” Treat the patient the way you would want to be treated! The 10 Commandments of Communicating with People with Disabilities 26 minutes Remember the 10 Commandments 1.) Speak directly to the person rather than thru a companion or sign language interpreter. 2.) Always offer to shake hands when introduced. 3.) Always identify yourself and others who are with you when meeting someone who is blind. 4.) If you offer assistance wait until the offer is accepted, then listen and wait for instructions. 5.) Treat adults as adults. 6.) Do not lean against or hand on someone's wheelchair or cart. Remember the 10 Commandments 7.) Listen attentively when talking to people who have difficulty speaking and wait for them to finish. 8.) Place yourself at eye level when talking to someone in a wheelchair. 9.) Tap a person who is deaf on the shoulder or wave your hand to get their attention. 10.) Relax. Don’t be embarrassed if you use common expressions that seems torelate to a person’s disability. Case History • Demographic Information • Medical history including their disability • typically taking many medications • Visual history • Educational history • Rehabilitation history • Vocational history • Recreational history
  20. 20. 20 Visual Acuity •Use highest level possible •binocular before monocular testing •adaptive positioning •use assistants, friends, family members •limited window of opportunity •randomize optotypes, use reinforcers •test=game, be creative Visual Acuity • Snellen • Broken Wheel • HOTV • Lea Symbols • Cardiff Cards • Teller Acuity Cards • OKN E F P T O Z H O V T Visual Acuity • Snellen • Broken Wheel • HOTV • Lea Symbols • Cardiff Cards • Teller Acuity Cards • OKN Visual Acuity • Snellen • Broken Wheel • HOTV • Lea Symbols • Cardiff Cards • Teller Acuity Cards • OKN Visual Acuity • Snellen • Broken Wheel • HOTV • Lea Symbols • Cardiff Cards • Teller Acuity Cards • OKN Visual Acuity • Snellen • Broken Wheel • HOTV • Lea Symbols • Cardiff Cards • Teller Acuity Cards • OKN
  21. 21. 21 Visual Acuity Cardiff Cards Maggie Woodhouse, PhD Preferential looking/vanishing optotypes Children 1-3 years Intellectual impairment eleven visual acuity levels Largest picture, 1m or 50cm, watch gaze, end when 2 out of 3 are correct for smallest picture Visual Acuity • Snellen • Broken Wheel • HOTV • Lea Symbols • Cardiff Cards • Teller Acuity Cards • OKN YouTube Videos https://www.youtube.com/watch?v=IJVWN123ZyI Lea Gratings https://www.youtube.com/watch?v=CsGkpygktQ4 Visual Acuity • Snellen • Broken Wheel • HOTV • Lea Symbols • Cardiff Cards • Teller Acuity Cards • OKN Visual Acuity Visual Acuity Visual Acuity Fix and follow, a short round Italian Guy!
  22. 22. 22 Refractive Error Mohindra Dynamic Retinoscopy •lens bars, 50 cm working distance •dark, pt looks at light •neutralize primary meridians •write in spherocyindrical form •algebraically add a (-) minus 1.25 to the sphere Refractive Error • Cycloplegic • spray (O’Brien Pharmacy http://obrienrx.com/ophthalmology/) •2% Cyclogel 3.75ml •1% Tropicamide 7.5ml •10% Phenylephrine 3.75ml • Spray on closed lids, have pt blink, wipe off excess (.5% Cyclo, .5% Myd, 2.5% Phenyl) Refractive Error • Keratometry • hand held electronic devices (Nidek) • Placido’s disk • keratoscope Refractive Error • Subjective Refraction • Objective Refraction • Autorefraction • SPOT Binocular Vision Assessment • Observation • Cover Test • Bruckner • Angle Kappa • Hirschberg • Krimsky Binocular Vision Assessment Incidence of Strabismus CEREBRAL PALSY 15-60% INTELLECTUAL DISABILITY 16-40% DOWN SYNDROME 41-75% DEAFNESS 29% NORMAL CHILDREN 2-4%  Observation  Cover Test  Bruckner  Angle Kappa  Hirschberg  Krimsky
  23. 23. 23 Binocular Vision Assessment • Observation • Cover Test • Bruckner • Angle Kappa • Hirschberg • Krimsky Binocular Vision Assessment • Observation • Cover Test • Bruckner • Angle Kappa • Hirschberg • Krimsky Binocular Vision Assessment • Observation • Cover Test • Bruckner • Angle Kappa • Hirschberg • Krimsky Binocular Vision Assessment • Observation • Cover Test • Bruckner • Angle Kappa • Hirschberg • Krimsky Krimsky: Place prism before fixating eye Binocular Vision Assessment • Lang stereotest • Random Dot E • Worth 4 Dot • MEM Nearpoint Retinoscopy • NPC • Accommodative Facility • Saccades/Pursuits Binocular Vision Assessment • Lang stereotest • Random Dot E • Worth 4 Dot • MEM Nearpoint Retinoscopy • NPC • Accommodative Facility • Saccades/Pursuits
  24. 24. 24 Binocular Vision Assessment • Lang stereotest • Random Dot E • Worth 4 Dot • MEM Nearpoint Retinoscopy • NPC • Accommodative Facility • Saccades/Pursuits Binocular Vision Assessment • Lang stereotest • Random Dot E • Worth 4 Dot • MEM Nearpoint Retinoscopy • NPC • Accommodative Facility • Saccades/Pursuits Binocular Vision Assessment • Lang stereotest • Random Dot E • Worth 4 Dot • MEM Nearpoint Retinoscopy • NPC • Accommodative Facility • Saccades/Pursuits Binocular Vision Assessment • Lang stereotest • Random Dot E • Worth 4 Dot • MEM Nearpoint Retinoscopy • NPC • Accommodative Facility • Saccades/Pursuits Ocular Health •Hand held devices •Slit lamp •Tonopen/Perkins •BIO/MIO/direct Ocular Health •Hand held devices •Slit lamp •Tonopen •Perkins •BIO/MIO/direct
  25. 25. 25 Ocular Health •Hand held devices •Slit lamp •Tonopen •BIO/MIO/direct Tangential Penlight Angle Estimation • Penlight at temporal aspect of cornea • Angle between 20-35 degrees to the facial plane • Maximum brightness • Open angle = nasal illumination at least 75% as bright as temporal illumination Special Testing • VEP, ERG, EOG • Sweep VEP • Ultrasound (A/B scan) • TOVA • Ober II Special Testing • VEP, ERG, EOG • Sweep VEP • Ultrasound (A/B scan) • TOVA • Ober II Ultrasound, B-Scan CPT 76512 (contact B-scan); Indications Examination of the posterior portion of the eye when direct view is precluded by media opacities. Evaluation of intraocular or orbital masses. For more info: http://www.healthgate.co.uk/dp/dph. 0253.shtml Special Testing • VEP, ERG, EOG • Sweep VEP • Ultrasound (A/B scan) • TOVA • Ober II The Test of Variables of Attention (T.O.V.A.®), a 21.6 minute computerized continuous performance test used by professionals in the diagnosis and monitoring of treatment of attention deficit disorder (ADD)/attention deficit hyperactivity disorder (ADHD) in children and adults. The standardized test is well normed and extremely helpful in predicting responsiveness to treatment modality. More info at: http://www.tova.net/ Special Testing • VEP, ERG, EOG • Sweep VEP • Ultrasound (A/B scan) • TOVA • Ober II
  26. 26. 26 Assessment • Working with incomplete or “fuzzy” clinical data • “Get over it!” • Seek help • Dr. Dominick Maino • 312-949-7282 • dmaino@ico.edu Treatment • Refractive •Patient’s cognitive level •Patient’s motor ability •Patient’s therapy goals •Patient’s vocational goals •Patient’s self abusive behaviors •Living conditions •Past success Treatment • When Do You Correct Refractive Error? •Myopia > 1.00D •Hyperopia > 2.00D •WR Astig > 2.00D •AR Astig > 1.00D •Oblique Astig > 1.00D •Anisometropia > 1.00D Treatment • Binocular Vision Dysfunction • Strabismus • Rx, VT, surgery • Amblyopia • Rx, VT • Accommodation dysfunction • Rx, VT • Oculomotor anomalies • Rx, VT Treatment Ocular Health Treat as you would any other patient. May even be more aggressive in your treatment Treatment Ocular Health anterior segment: lids, lashes conjunctiva, cornea
  27. 27. 27 Treatment • Lens • refer/treat optically • cataract • lenticonus • Fundus/Optic nerve • diagnose/refer Treatment •GLC •Treat/Refer •Many need surgical intervention Referral Resources Developmental Disabilities Service of the Illinois Eye Institute 3241 S. Michigan Ave. Chicago, Il. 60616 312-949-7280 (Pediatrics) 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! Acknowledgements I used pictures and other information from the following: • http://www.ds-health.com/ • http://www.ndss.org/ • http://www.downsyn.com/pictures.html • http://www.waycool.net/sarahphotos.htm • http://www.nfxf.org/ • http://www.fragilexohio.org/basic.html Acknowledgements I used pictures and other information from the following: • http://www.ncbi.nlm.nih.gov/Omim/ • http://www.lowesyndrome.org/ • http://www.apert.org/ • http://www.azstarnet.com/~tjk/fashome.htm • http://info.med.yale.edu/genetics/ward/tavi/p00.html • http://www.siue.edu/COSTUMES/
  28. 28. 28 Questions? Contact: Dominick M. Maino, OD, MEd, FAAO 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 www.LyonsFamilyEyeCare.com

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