1 Visual Diagnosis and Care of the Patient with Special Needs Syndromes/Genetic Anomalies/Brain Injury 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) [email protected]MainosMemos.com www.ico.edu LyonsFamilyEyeCare.com Taub M, Bartuccio M, Maino D. (Eds) Visual Diagnosis and Care of the Patient with Special Needs. Lippincott, Williams & Wilkins. New York, NY;2012. Steel G, Maino D. The Life Cycle Approach to Care for Patients with Special Needs. Taub M, Reddell AS. Cerebral Palsy. Woodhouse M. Maino D. Down Syndrome. Berrry-Kravis E, Maino D. Fragile X Coulter RA. Autism Schnell PH, Maino D, Jespersen R. Psychiatric Illness and Associated Oculo-visual Anomalies. Bartuccio M, Browing RT, Howell AC. ADHD Ciuffreda K, Kapoor N. Acquired Brain Injury. Maino D, Donati, R, Pang, Viola S, Barry S. Neuroplasticity. Lran BS, Mayer DL. Vision Impairment and Brain Damage Children with Special Needs •Learning Disability •ADHD •Cerebral Palsy •Down Syndrome •Fragile X Syndrome Children with Special Needs •Autism •Mental Retardation/Intellectual Disability •Acquired/Traumatic Brain Injury •Mental Illness/Psychiatric Illness Learning Disabilities Reading/Dyslexia Dyscalculia Dysgraphia
16
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Visual Diagnosis and Care of the Patient with Special Needs: Syndromes
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Transcript
1
Visual Diagnosis and
Care of the Patient with
Special Needs
SyndromesGenetic AnomaliesBrain Injury
Dominick M Maino OD MEd FAAO FCOVD-A
Professor
PediatricsBinocular Vision Service
Illinois College of Optometry
Illinois Eye Institute 3241 S Michigan Ave Chicago Il 60616
312-949-7280 (Voice) 312-949-7358 (fax)
dmainoicoedu MainosMemoscom
wwwicoedu LyonsFamilyEyeCarecom
Taub M Bartuccio M Maino D (Eds)
Visual Diagnosis and Care of the Patient
with Special Needs Lippincott Williams amp
Wilkins New York NY2012
Steel G Maino D The Life Cycle Approach to Care for Patients with
Special Needs
Taub M Reddell AS Cerebral Palsy
Woodhouse M Maino D Down Syndrome
Berrry-Kravis E Maino D Fragile X
Coulter RA Autism
Schnell PH Maino D Jespersen R Psychiatric Illness and Associated
Oculo-visual Anomalies
Bartuccio M Browing RT Howell AC ADHD
Ciuffreda K Kapoor N Acquired Brain Injury
Maino D Donati R Pang Viola S Barry S Neuroplasticity
Lran BS Mayer DL Vision Impairment and Brain Damage
Children with Special Needs
bullLearning Disability
bullADHD
bullCerebral Palsy
bullDown Syndrome
bullFragile X Syndrome
Children with Special Needs
bullAutism
bullMental RetardationIntellectual Disability
bullAcquiredTraumatic Brain Injury
bullMental IllnessPsychiatric Illness
Learning Disabilities
ReadingDyslexia
Dyscalculia
Dysgraphia
2
Learning Disabilities
ReadingDyslexia
Reading disabilities common
Dyslexia rare
Learning Disabilities
ReadingDyslexia Language Based
Vision Based
Combination of LanguageVision
Learning Disabilities
Dyscalculia (Math Disability)
3 and 6 of the population
Neurological Dyscalculia Deficits in working amp short term memory
bull 2-3 children out of 1000 (as low as 23 per 1000 to 36
per 1000)
bull 10000 babies born each year
bull 8000 - 10000 babies and infants are
diagnosed per year
4
Cerebral Palsy IncidencePrevalence
bull Around 1200 to 1500 preschool-aged
children are diagnosed per year
bull births 10 of cases are acquired
(trauma)
bull Normal life spans 40 live to age 40
many living into their senior years
Cerebral Palsy IncidencePrevalence
bull 75 of CP occurs during pregnancy 5 during childbirth
andor 15 after birth up to age 3
bull 80 the etiology is unknown
bull The number of new cases have increased 25 during the
past decade (1990rsquos)
bull Average lifetime cost per person of $921000 (in 2003
dollars)
Cerebral Palsy Classifications
bull Spastic - 61 to 769
bull DyskineticAthetoid - 10-15
bull Ataxic - lt5
bull Mixed
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 Inc17-54
bull Binocular acuity could be evaluated in
45 of individuals below age 13
bull For CP patients VAs are generally
decreased when compared to those
measured for individuals with Down
Syndrome
bull 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 198461321-333
bull 60 significant refractive error
bull Hyperopia (gt+150) 3X more common among
CP children than in non-affected individuals
bull Other studies (Black Breakey et al Duckman
LoCasio) support increased refractive error
being present
Cerebral Palsy Refractive Characteristic
bull Hyperopia present 3Xs
more than when compared
to myopia
bull Wesson amp Maino note bull many more hyperopes than myopes
bull average amount of significant myopia is greater
5
Cerebral Palsy Binocular
Characteristics
bull Prevalence of strabismus exceeds that of
general population by a factor of 10
bull Slightly more esotropia than exotropia
bull Dyskinetic Strabismus bull slow tonic deviation similar to vergence
bull change from ET to XT bull usually associated with athetoid classification
Cerebral Palsy InteractionTips
bull Positioning
bull Right tools (objective)
bull No sudden movement
bull No loud unexpected noises
bull Speak smoothly soothingly softlyhellipif
appropriate sing to the patient
bull Smile smile SMILE
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-
Apr31(2)488-95 Epub 2009 Dec 5
hellipOverall 73 patients had impairments hellipthe majority of which presenting difficulties on both visuoperceptual and visuospatial tasks (79) hellip
Cerebral Palsy
bull 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 Jun51(6)2885-90 Epub 2010 Jan 27
hellip A significantly higher prevalence and magnitude of refractive error was found in the CP group hellip Higher spherical refractive errors were significantly associated with the nonspastic CP hellip The presence and magnitude of astigmatism were greater when intellectual impairment was more severe hellip High refractive errors are common in CP pointing to impairment of the emmetropization process hellip
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 May47(5)1824-30
Brain injury such as that present in CP has a significant impact on accommodative function These findings have implications for the optometric care of children with CP and inform our understanding of the impact of early brain injury on visual development
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 Oct42(10)701-3 Links
hellipThe 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 (ie for computer screens) and near distances (ie 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
6
Down Syndrome
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
From httpwwwndssorgaboutdsaboutdshtmlDown
Down Syndrome
bull What is it
bull What is itrsquos etiology
bull What is itrsquos prevalenceincidence
bull What are itrsquos physicalvisual characteristics
Down Syndrome
bullLangdon Down 1866
bullldquoMongolismrdquo no longer used
bullMost common genetic anomaly
bullVariable levels of ability amp disability
Down Syndrome
From 1979 to 2003 the prevalence of
Down syndrome increased by 311
from 90 to 118 per 10000 live births
In 2002 prevalence among children and
adolescents aged 0 to 19 was 1 in 971 or
approximately 83400 children and
adolescents living with Down syndrome
in the Unites States
Down Syndrome PrevalenceIncidence
bull 1 in 12 for older mothers (gt=49yrs of age)
bull Most babies with Down syndrome born to
younger mothers (80 born to moms younger than 35)
bull Most frequently encounter ldquoviablerdquo genetic
anomaly
bull Most frequently encounter ldquospecialrdquo patient
bull Genetics bull 95 demonstrate non-disjunction of one chromosome during meiosis (Trisomy 21)
bull 2-4 mosaicism bull 3-4 Robertsonian translocation of the long arm of chromosome 21 to another chromosome usually 14
bull risk of having a second child with Trisomy 21 or mosaic Down syndrome is 1 in 100 The risk is higher if one parent is a carrier of a translocated cell
Down Syndrome Etiology
bull Genetics Trisomy 21
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 amp Maino) Down syndrome and
strabismus shows a constant unilateral
esotropia of less than 20 PD at near (Greatly reduced number show ET at distance)
Itrsquos suggested that the etiology is a high
ACA ratio rather that of a basic ET
Whatrsquos New in Down Syndrome
Al-Bagdady M Stewart RE Watts P Murphy PJ Woodhouse JM Bifocals
and Downs syndrome correction or treatment Ophthalmic Physiol
Opt 2009 Jul29(4)416-21 Epub 2009 May 11
Accommodation is reduced in approximately 75 of
children with Downs syndrome (DS) Bifocals have
been shown to be beneficial and they are currently
prescribed regularly hellip 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 hellip
8
Whatrsquos New in Down Syndrome
Haugen OH Hovding G Eide GE Biometric measurements of the eyes in teenagers and
young adults with Down syndromeActa Ophthalmol Scand 2001 Dec79(6)616-25
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
Haugen OH Hovding G Lundstrom IRefractive development in children
with Downs syndrome a population based longitudinal study Br J Ophthalmol
2001 Jun85(6)714-9
hellipAccommodation weakness may be of
aetiological importance to the high
frequency of refractive errors
encountered in patients with Downs syndrome
Stewart RE Woodhouse JM Cregg M Pakeman VH Association
between accommodative accuracy hypermetropia and strabismus
in children with Downs syndrome Optom Vis Sci 2007
Feb84(2)149-55
hellipThis study demonstrates the marked
association between under-
accommodation hypermetropia and
strabismus in children with Downs
syndrome hellip
Haugen OH Hovding GStrabismus and binocular function in children with
Down syndrome A population-based longitudinal studyActa Ophthalmol
Scand 2001 Apr79(2)133-9
hellipThe 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 helliphellip
Stewart RE Woodhouse MJ Trojanowska LD In focus
the use of bifocal spectacles with children with Downs
bull What are itrsquos physicalvisual characteristics
Fragile X Syndrome
Most frequently encountered inherited form of
mental retardation (X-linked MR)
Often misdiagnosed in the past
ldquoNewrdquo 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 1600 in affected males
12500-4000 males 17000-8000 females
female carriers 1130-250 population
male carrier 1250-800
10 of undiagnosed ID in males
3 of previously undiagnosed ID in females
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism
(80 affected men)
Other hypotonia seizures
recurrent otitis
media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
10
Fragile X Syndrome Characteristics
bull First demonstrated genetic etiology of
learning disability
bull Variable mental retardation
bull Math language delay
bull Sensory integration problems
bull Attentional deficits
bull Psychiatric illnesses (shy)
Fragile X Syndrome Characteristics
Gaze Avoidance
How do you conduct an
examination on an individual
that wonrsquot look at you
Fragile X Syndrome Diagnosis
Genetics
bull Triplet nucleotide repeated sequence bullcytosine guanine guanine (CGG) bull0-50 CGG repeats normal 50-200 premutation gt 200 full syndrome
bull Fragile site on X chromosome (band
q273)
Fragile X Syndrome Ocular Findings
bull Strabismus (33-50)
bull Nystagmus
bull Refractive error
bull Accommodative dysfunctions
bull Oculomotor anomalies
bull Ocular Health
bull Perceptual dysfunction
Whatrsquos New in Fragile X Syndrome
bull Hatton DD Buckley E Lachiewicz A Roberts J Ocular status of boys with fragile X syndrome a
prospective study J AAPOS 1998 Oct2(5)298-302
hellipobserve a higher prevalence of strabismus than
that found in the general population (8 vs 05
to 1hellip 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
11
Whatrsquos New in Fragile X Syndrome
Block SS Brusca-Vega R Pizzi WJ Berry-Kravis E Maino DM Treitman TMCognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriersOptom Vis Sci 2000 Nov77(11)592-9
hellipfull 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 hellip
Whatrsquos 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 Oct16(5)525-40PMID
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 Nov77(11)592-9PMID
11138833
Whatrsquos New in Fragile X Syndrome
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 May66(5)
Optometric findings in the fragile X syndrome Maino DM Wesson
M Schlange D Cibis G Maino JH Optom Vis Sci 1991
Aug68(8)
Mental retardation syndromes with associated ocular defects Maino
DM Maino JH Maino SA
J Am Optom Assoc 1990 Sep61(9)707-16
Ocular anomalies in fragile X syndrome Maino DM Schlange D
Maino JH Caden B J Am Optom Assoc 1990 Apr61(4)316-23
Fragile X-associated tremorataxia syndrome
(FXTAS)
reported in 33-40 of men older than 50 years and less
frequently (4-8) in older women with premutations in the
fragile X mental retardation (FMR1) gene
Clinical features (FXTAS) incontinence impotence cerebellar
bull 2-3 children out of 1000 (as low as 23 per 1000 to 36
per 1000)
bull 10000 babies born each year
bull 8000 - 10000 babies and infants are
diagnosed per year
4
Cerebral Palsy IncidencePrevalence
bull Around 1200 to 1500 preschool-aged
children are diagnosed per year
bull births 10 of cases are acquired
(trauma)
bull Normal life spans 40 live to age 40
many living into their senior years
Cerebral Palsy IncidencePrevalence
bull 75 of CP occurs during pregnancy 5 during childbirth
andor 15 after birth up to age 3
bull 80 the etiology is unknown
bull The number of new cases have increased 25 during the
past decade (1990rsquos)
bull Average lifetime cost per person of $921000 (in 2003
dollars)
Cerebral Palsy Classifications
bull Spastic - 61 to 769
bull DyskineticAthetoid - 10-15
bull Ataxic - lt5
bull Mixed
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 Inc17-54
bull Binocular acuity could be evaluated in
45 of individuals below age 13
bull For CP patients VAs are generally
decreased when compared to those
measured for individuals with Down
Syndrome
bull 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 198461321-333
bull 60 significant refractive error
bull Hyperopia (gt+150) 3X more common among
CP children than in non-affected individuals
bull Other studies (Black Breakey et al Duckman
LoCasio) support increased refractive error
being present
Cerebral Palsy Refractive Characteristic
bull Hyperopia present 3Xs
more than when compared
to myopia
bull Wesson amp Maino note bull many more hyperopes than myopes
bull average amount of significant myopia is greater
5
Cerebral Palsy Binocular
Characteristics
bull Prevalence of strabismus exceeds that of
general population by a factor of 10
bull Slightly more esotropia than exotropia
bull Dyskinetic Strabismus bull slow tonic deviation similar to vergence
bull change from ET to XT bull usually associated with athetoid classification
Cerebral Palsy InteractionTips
bull Positioning
bull Right tools (objective)
bull No sudden movement
bull No loud unexpected noises
bull Speak smoothly soothingly softlyhellipif
appropriate sing to the patient
bull Smile smile SMILE
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-
Apr31(2)488-95 Epub 2009 Dec 5
hellipOverall 73 patients had impairments hellipthe majority of which presenting difficulties on both visuoperceptual and visuospatial tasks (79) hellip
Cerebral Palsy
bull 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 Jun51(6)2885-90 Epub 2010 Jan 27
hellip A significantly higher prevalence and magnitude of refractive error was found in the CP group hellip Higher spherical refractive errors were significantly associated with the nonspastic CP hellip The presence and magnitude of astigmatism were greater when intellectual impairment was more severe hellip High refractive errors are common in CP pointing to impairment of the emmetropization process hellip
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 May47(5)1824-30
Brain injury such as that present in CP has a significant impact on accommodative function These findings have implications for the optometric care of children with CP and inform our understanding of the impact of early brain injury on visual development
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 Oct42(10)701-3 Links
hellipThe 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 (ie for computer screens) and near distances (ie 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
6
Down Syndrome
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
From httpwwwndssorgaboutdsaboutdshtmlDown
Down Syndrome
bull What is it
bull What is itrsquos etiology
bull What is itrsquos prevalenceincidence
bull What are itrsquos physicalvisual characteristics
Down Syndrome
bullLangdon Down 1866
bullldquoMongolismrdquo no longer used
bullMost common genetic anomaly
bullVariable levels of ability amp disability
Down Syndrome
From 1979 to 2003 the prevalence of
Down syndrome increased by 311
from 90 to 118 per 10000 live births
In 2002 prevalence among children and
adolescents aged 0 to 19 was 1 in 971 or
approximately 83400 children and
adolescents living with Down syndrome
in the Unites States
Down Syndrome PrevalenceIncidence
bull 1 in 12 for older mothers (gt=49yrs of age)
bull Most babies with Down syndrome born to
younger mothers (80 born to moms younger than 35)
bull Most frequently encounter ldquoviablerdquo genetic
anomaly
bull Most frequently encounter ldquospecialrdquo patient
bull Genetics bull 95 demonstrate non-disjunction of one chromosome during meiosis (Trisomy 21)
bull 2-4 mosaicism bull 3-4 Robertsonian translocation of the long arm of chromosome 21 to another chromosome usually 14
bull risk of having a second child with Trisomy 21 or mosaic Down syndrome is 1 in 100 The risk is higher if one parent is a carrier of a translocated cell
Down Syndrome Etiology
bull Genetics Trisomy 21
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 amp Maino) Down syndrome and
strabismus shows a constant unilateral
esotropia of less than 20 PD at near (Greatly reduced number show ET at distance)
Itrsquos suggested that the etiology is a high
ACA ratio rather that of a basic ET
Whatrsquos New in Down Syndrome
Al-Bagdady M Stewart RE Watts P Murphy PJ Woodhouse JM Bifocals
and Downs syndrome correction or treatment Ophthalmic Physiol
Opt 2009 Jul29(4)416-21 Epub 2009 May 11
Accommodation is reduced in approximately 75 of
children with Downs syndrome (DS) Bifocals have
been shown to be beneficial and they are currently
prescribed regularly hellip 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 hellip
8
Whatrsquos New in Down Syndrome
Haugen OH Hovding G Eide GE Biometric measurements of the eyes in teenagers and
young adults with Down syndromeActa Ophthalmol Scand 2001 Dec79(6)616-25
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
Haugen OH Hovding G Lundstrom IRefractive development in children
with Downs syndrome a population based longitudinal study Br J Ophthalmol
2001 Jun85(6)714-9
hellipAccommodation weakness may be of
aetiological importance to the high
frequency of refractive errors
encountered in patients with Downs syndrome
Stewart RE Woodhouse JM Cregg M Pakeman VH Association
between accommodative accuracy hypermetropia and strabismus
in children with Downs syndrome Optom Vis Sci 2007
Feb84(2)149-55
hellipThis study demonstrates the marked
association between under-
accommodation hypermetropia and
strabismus in children with Downs
syndrome hellip
Haugen OH Hovding GStrabismus and binocular function in children with
Down syndrome A population-based longitudinal studyActa Ophthalmol
Scand 2001 Apr79(2)133-9
hellipThe 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 helliphellip
Stewart RE Woodhouse MJ Trojanowska LD In focus
the use of bifocal spectacles with children with Downs
bull What are itrsquos physicalvisual characteristics
Fragile X Syndrome
Most frequently encountered inherited form of
mental retardation (X-linked MR)
Often misdiagnosed in the past
ldquoNewrdquo 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 1600 in affected males
12500-4000 males 17000-8000 females
female carriers 1130-250 population
male carrier 1250-800
10 of undiagnosed ID in males
3 of previously undiagnosed ID in females
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism
(80 affected men)
Other hypotonia seizures
recurrent otitis
media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
10
Fragile X Syndrome Characteristics
bull First demonstrated genetic etiology of
learning disability
bull Variable mental retardation
bull Math language delay
bull Sensory integration problems
bull Attentional deficits
bull Psychiatric illnesses (shy)
Fragile X Syndrome Characteristics
Gaze Avoidance
How do you conduct an
examination on an individual
that wonrsquot look at you
Fragile X Syndrome Diagnosis
Genetics
bull Triplet nucleotide repeated sequence bullcytosine guanine guanine (CGG) bull0-50 CGG repeats normal 50-200 premutation gt 200 full syndrome
bull Fragile site on X chromosome (band
q273)
Fragile X Syndrome Ocular Findings
bull Strabismus (33-50)
bull Nystagmus
bull Refractive error
bull Accommodative dysfunctions
bull Oculomotor anomalies
bull Ocular Health
bull Perceptual dysfunction
Whatrsquos New in Fragile X Syndrome
bull Hatton DD Buckley E Lachiewicz A Roberts J Ocular status of boys with fragile X syndrome a
prospective study J AAPOS 1998 Oct2(5)298-302
hellipobserve a higher prevalence of strabismus than
that found in the general population (8 vs 05
to 1hellip 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
11
Whatrsquos New in Fragile X Syndrome
Block SS Brusca-Vega R Pizzi WJ Berry-Kravis E Maino DM Treitman TMCognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriersOptom Vis Sci 2000 Nov77(11)592-9
hellipfull 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 hellip
Whatrsquos 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 Oct16(5)525-40PMID
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 Nov77(11)592-9PMID
11138833
Whatrsquos New in Fragile X Syndrome
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 May66(5)
Optometric findings in the fragile X syndrome Maino DM Wesson
M Schlange D Cibis G Maino JH Optom Vis Sci 1991
Aug68(8)
Mental retardation syndromes with associated ocular defects Maino
DM Maino JH Maino SA
J Am Optom Assoc 1990 Sep61(9)707-16
Ocular anomalies in fragile X syndrome Maino DM Schlange D
Maino JH Caden B J Am Optom Assoc 1990 Apr61(4)316-23
Fragile X-associated tremorataxia syndrome
(FXTAS)
reported in 33-40 of men older than 50 years and less
frequently (4-8) in older women with premutations in the
fragile X mental retardation (FMR1) gene
Clinical features (FXTAS) incontinence impotence cerebellar
Illinois Eye Institute Illinois College of Optometry
3241 S Michigan Ave Chicago Il 60616
312-949-7280 (phone) 312-949-7660 (fax)
dmainoicoedu
wwwicoedu LyonsFamilyEyeCarecom
MainosMemoscom
3
Learning Disabilities
ADHDADD Treatment
Medication
Psychotherapy
Education or Training
A combination of treatments
Oculomotor therapyVision Therapy
Cerebral Palsy
bull What is it
bull What is itrsquos etiology
bull What is itrsquos prevalenceincidence
bull How is it classified
bull What are itrsquos visual characteristics
Cerebral Palsy
bull 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
bull Affects virtually all motor systems
bull Can be acquired
Cerebral Palsy Etiology
Something goes awry just before during or
just after birth
Prenatal
Neonatal
Postnatal
Cerebral Palsy IncidencePrevalence
bull 764000+ children and adults
bull 500000 children under age of 18
bull 2-3 children out of 1000 (as low as 23 per 1000 to 36
per 1000)
bull 10000 babies born each year
bull 8000 - 10000 babies and infants are
diagnosed per year
4
Cerebral Palsy IncidencePrevalence
bull Around 1200 to 1500 preschool-aged
children are diagnosed per year
bull births 10 of cases are acquired
(trauma)
bull Normal life spans 40 live to age 40
many living into their senior years
Cerebral Palsy IncidencePrevalence
bull 75 of CP occurs during pregnancy 5 during childbirth
andor 15 after birth up to age 3
bull 80 the etiology is unknown
bull The number of new cases have increased 25 during the
past decade (1990rsquos)
bull Average lifetime cost per person of $921000 (in 2003
dollars)
Cerebral Palsy Classifications
bull Spastic - 61 to 769
bull DyskineticAthetoid - 10-15
bull Ataxic - lt5
bull Mixed
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 Inc17-54
bull Binocular acuity could be evaluated in
45 of individuals below age 13
bull For CP patients VAs are generally
decreased when compared to those
measured for individuals with Down
Syndrome
bull 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 198461321-333
bull 60 significant refractive error
bull Hyperopia (gt+150) 3X more common among
CP children than in non-affected individuals
bull Other studies (Black Breakey et al Duckman
LoCasio) support increased refractive error
being present
Cerebral Palsy Refractive Characteristic
bull Hyperopia present 3Xs
more than when compared
to myopia
bull Wesson amp Maino note bull many more hyperopes than myopes
bull average amount of significant myopia is greater
5
Cerebral Palsy Binocular
Characteristics
bull Prevalence of strabismus exceeds that of
general population by a factor of 10
bull Slightly more esotropia than exotropia
bull Dyskinetic Strabismus bull slow tonic deviation similar to vergence
bull change from ET to XT bull usually associated with athetoid classification
Cerebral Palsy InteractionTips
bull Positioning
bull Right tools (objective)
bull No sudden movement
bull No loud unexpected noises
bull Speak smoothly soothingly softlyhellipif
appropriate sing to the patient
bull Smile smile SMILE
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-
Apr31(2)488-95 Epub 2009 Dec 5
hellipOverall 73 patients had impairments hellipthe majority of which presenting difficulties on both visuoperceptual and visuospatial tasks (79) hellip
Cerebral Palsy
bull 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 Jun51(6)2885-90 Epub 2010 Jan 27
hellip A significantly higher prevalence and magnitude of refractive error was found in the CP group hellip Higher spherical refractive errors were significantly associated with the nonspastic CP hellip The presence and magnitude of astigmatism were greater when intellectual impairment was more severe hellip High refractive errors are common in CP pointing to impairment of the emmetropization process hellip
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 May47(5)1824-30
Brain injury such as that present in CP has a significant impact on accommodative function These findings have implications for the optometric care of children with CP and inform our understanding of the impact of early brain injury on visual development
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 Oct42(10)701-3 Links
hellipThe 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 (ie for computer screens) and near distances (ie 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
6
Down Syndrome
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
From httpwwwndssorgaboutdsaboutdshtmlDown
Down Syndrome
bull What is it
bull What is itrsquos etiology
bull What is itrsquos prevalenceincidence
bull What are itrsquos physicalvisual characteristics
Down Syndrome
bullLangdon Down 1866
bullldquoMongolismrdquo no longer used
bullMost common genetic anomaly
bullVariable levels of ability amp disability
Down Syndrome
From 1979 to 2003 the prevalence of
Down syndrome increased by 311
from 90 to 118 per 10000 live births
In 2002 prevalence among children and
adolescents aged 0 to 19 was 1 in 971 or
approximately 83400 children and
adolescents living with Down syndrome
in the Unites States
Down Syndrome PrevalenceIncidence
bull 1 in 12 for older mothers (gt=49yrs of age)
bull Most babies with Down syndrome born to
younger mothers (80 born to moms younger than 35)
bull Most frequently encounter ldquoviablerdquo genetic
anomaly
bull Most frequently encounter ldquospecialrdquo patient
bull Genetics bull 95 demonstrate non-disjunction of one chromosome during meiosis (Trisomy 21)
bull 2-4 mosaicism bull 3-4 Robertsonian translocation of the long arm of chromosome 21 to another chromosome usually 14
bull risk of having a second child with Trisomy 21 or mosaic Down syndrome is 1 in 100 The risk is higher if one parent is a carrier of a translocated cell
Down Syndrome Etiology
bull Genetics Trisomy 21
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 amp Maino) Down syndrome and
strabismus shows a constant unilateral
esotropia of less than 20 PD at near (Greatly reduced number show ET at distance)
Itrsquos suggested that the etiology is a high
ACA ratio rather that of a basic ET
Whatrsquos New in Down Syndrome
Al-Bagdady M Stewart RE Watts P Murphy PJ Woodhouse JM Bifocals
and Downs syndrome correction or treatment Ophthalmic Physiol
Opt 2009 Jul29(4)416-21 Epub 2009 May 11
Accommodation is reduced in approximately 75 of
children with Downs syndrome (DS) Bifocals have
been shown to be beneficial and they are currently
prescribed regularly hellip 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 hellip
8
Whatrsquos New in Down Syndrome
Haugen OH Hovding G Eide GE Biometric measurements of the eyes in teenagers and
young adults with Down syndromeActa Ophthalmol Scand 2001 Dec79(6)616-25
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
Haugen OH Hovding G Lundstrom IRefractive development in children
with Downs syndrome a population based longitudinal study Br J Ophthalmol
2001 Jun85(6)714-9
hellipAccommodation weakness may be of
aetiological importance to the high
frequency of refractive errors
encountered in patients with Downs syndrome
Stewart RE Woodhouse JM Cregg M Pakeman VH Association
between accommodative accuracy hypermetropia and strabismus
in children with Downs syndrome Optom Vis Sci 2007
Feb84(2)149-55
hellipThis study demonstrates the marked
association between under-
accommodation hypermetropia and
strabismus in children with Downs
syndrome hellip
Haugen OH Hovding GStrabismus and binocular function in children with
Down syndrome A population-based longitudinal studyActa Ophthalmol
Scand 2001 Apr79(2)133-9
hellipThe 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 helliphellip
Stewart RE Woodhouse MJ Trojanowska LD In focus
the use of bifocal spectacles with children with Downs
bull What are itrsquos physicalvisual characteristics
Fragile X Syndrome
Most frequently encountered inherited form of
mental retardation (X-linked MR)
Often misdiagnosed in the past
ldquoNewrdquo 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 1600 in affected males
12500-4000 males 17000-8000 females
female carriers 1130-250 population
male carrier 1250-800
10 of undiagnosed ID in males
3 of previously undiagnosed ID in females
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism
(80 affected men)
Other hypotonia seizures
recurrent otitis
media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
10
Fragile X Syndrome Characteristics
bull First demonstrated genetic etiology of
learning disability
bull Variable mental retardation
bull Math language delay
bull Sensory integration problems
bull Attentional deficits
bull Psychiatric illnesses (shy)
Fragile X Syndrome Characteristics
Gaze Avoidance
How do you conduct an
examination on an individual
that wonrsquot look at you
Fragile X Syndrome Diagnosis
Genetics
bull Triplet nucleotide repeated sequence bullcytosine guanine guanine (CGG) bull0-50 CGG repeats normal 50-200 premutation gt 200 full syndrome
bull Fragile site on X chromosome (band
q273)
Fragile X Syndrome Ocular Findings
bull Strabismus (33-50)
bull Nystagmus
bull Refractive error
bull Accommodative dysfunctions
bull Oculomotor anomalies
bull Ocular Health
bull Perceptual dysfunction
Whatrsquos New in Fragile X Syndrome
bull Hatton DD Buckley E Lachiewicz A Roberts J Ocular status of boys with fragile X syndrome a
prospective study J AAPOS 1998 Oct2(5)298-302
hellipobserve a higher prevalence of strabismus than
that found in the general population (8 vs 05
to 1hellip 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
11
Whatrsquos New in Fragile X Syndrome
Block SS Brusca-Vega R Pizzi WJ Berry-Kravis E Maino DM Treitman TMCognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriersOptom Vis Sci 2000 Nov77(11)592-9
hellipfull 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 hellip
Whatrsquos 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 Oct16(5)525-40PMID
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 Nov77(11)592-9PMID
11138833
Whatrsquos New in Fragile X Syndrome
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 May66(5)
Optometric findings in the fragile X syndrome Maino DM Wesson
M Schlange D Cibis G Maino JH Optom Vis Sci 1991
Aug68(8)
Mental retardation syndromes with associated ocular defects Maino
DM Maino JH Maino SA
J Am Optom Assoc 1990 Sep61(9)707-16
Ocular anomalies in fragile X syndrome Maino DM Schlange D
Maino JH Caden B J Am Optom Assoc 1990 Apr61(4)316-23
Fragile X-associated tremorataxia syndrome
(FXTAS)
reported in 33-40 of men older than 50 years and less
frequently (4-8) in older women with premutations in the
fragile X mental retardation (FMR1) gene
Clinical features (FXTAS) incontinence impotence cerebellar
Illinois Eye Institute Illinois College of Optometry
3241 S Michigan Ave Chicago Il 60616
312-949-7280 (phone) 312-949-7660 (fax)
dmainoicoedu
wwwicoedu LyonsFamilyEyeCarecom
MainosMemoscom
4
Cerebral Palsy IncidencePrevalence
bull Around 1200 to 1500 preschool-aged
children are diagnosed per year
bull births 10 of cases are acquired
(trauma)
bull Normal life spans 40 live to age 40
many living into their senior years
Cerebral Palsy IncidencePrevalence
bull 75 of CP occurs during pregnancy 5 during childbirth
andor 15 after birth up to age 3
bull 80 the etiology is unknown
bull The number of new cases have increased 25 during the
past decade (1990rsquos)
bull Average lifetime cost per person of $921000 (in 2003
dollars)
Cerebral Palsy Classifications
bull Spastic - 61 to 769
bull DyskineticAthetoid - 10-15
bull Ataxic - lt5
bull Mixed
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 Inc17-54
bull Binocular acuity could be evaluated in
45 of individuals below age 13
bull For CP patients VAs are generally
decreased when compared to those
measured for individuals with Down
Syndrome
bull 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 198461321-333
bull 60 significant refractive error
bull Hyperopia (gt+150) 3X more common among
CP children than in non-affected individuals
bull Other studies (Black Breakey et al Duckman
LoCasio) support increased refractive error
being present
Cerebral Palsy Refractive Characteristic
bull Hyperopia present 3Xs
more than when compared
to myopia
bull Wesson amp Maino note bull many more hyperopes than myopes
bull average amount of significant myopia is greater
5
Cerebral Palsy Binocular
Characteristics
bull Prevalence of strabismus exceeds that of
general population by a factor of 10
bull Slightly more esotropia than exotropia
bull Dyskinetic Strabismus bull slow tonic deviation similar to vergence
bull change from ET to XT bull usually associated with athetoid classification
Cerebral Palsy InteractionTips
bull Positioning
bull Right tools (objective)
bull No sudden movement
bull No loud unexpected noises
bull Speak smoothly soothingly softlyhellipif
appropriate sing to the patient
bull Smile smile SMILE
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-
Apr31(2)488-95 Epub 2009 Dec 5
hellipOverall 73 patients had impairments hellipthe majority of which presenting difficulties on both visuoperceptual and visuospatial tasks (79) hellip
Cerebral Palsy
bull 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 Jun51(6)2885-90 Epub 2010 Jan 27
hellip A significantly higher prevalence and magnitude of refractive error was found in the CP group hellip Higher spherical refractive errors were significantly associated with the nonspastic CP hellip The presence and magnitude of astigmatism were greater when intellectual impairment was more severe hellip High refractive errors are common in CP pointing to impairment of the emmetropization process hellip
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 May47(5)1824-30
Brain injury such as that present in CP has a significant impact on accommodative function These findings have implications for the optometric care of children with CP and inform our understanding of the impact of early brain injury on visual development
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 Oct42(10)701-3 Links
hellipThe 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 (ie for computer screens) and near distances (ie 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
6
Down Syndrome
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
From httpwwwndssorgaboutdsaboutdshtmlDown
Down Syndrome
bull What is it
bull What is itrsquos etiology
bull What is itrsquos prevalenceincidence
bull What are itrsquos physicalvisual characteristics
Down Syndrome
bullLangdon Down 1866
bullldquoMongolismrdquo no longer used
bullMost common genetic anomaly
bullVariable levels of ability amp disability
Down Syndrome
From 1979 to 2003 the prevalence of
Down syndrome increased by 311
from 90 to 118 per 10000 live births
In 2002 prevalence among children and
adolescents aged 0 to 19 was 1 in 971 or
approximately 83400 children and
adolescents living with Down syndrome
in the Unites States
Down Syndrome PrevalenceIncidence
bull 1 in 12 for older mothers (gt=49yrs of age)
bull Most babies with Down syndrome born to
younger mothers (80 born to moms younger than 35)
bull Most frequently encounter ldquoviablerdquo genetic
anomaly
bull Most frequently encounter ldquospecialrdquo patient
bull Genetics bull 95 demonstrate non-disjunction of one chromosome during meiosis (Trisomy 21)
bull 2-4 mosaicism bull 3-4 Robertsonian translocation of the long arm of chromosome 21 to another chromosome usually 14
bull risk of having a second child with Trisomy 21 or mosaic Down syndrome is 1 in 100 The risk is higher if one parent is a carrier of a translocated cell
Down Syndrome Etiology
bull Genetics Trisomy 21
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 amp Maino) Down syndrome and
strabismus shows a constant unilateral
esotropia of less than 20 PD at near (Greatly reduced number show ET at distance)
Itrsquos suggested that the etiology is a high
ACA ratio rather that of a basic ET
Whatrsquos New in Down Syndrome
Al-Bagdady M Stewart RE Watts P Murphy PJ Woodhouse JM Bifocals
and Downs syndrome correction or treatment Ophthalmic Physiol
Opt 2009 Jul29(4)416-21 Epub 2009 May 11
Accommodation is reduced in approximately 75 of
children with Downs syndrome (DS) Bifocals have
been shown to be beneficial and they are currently
prescribed regularly hellip 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 hellip
8
Whatrsquos New in Down Syndrome
Haugen OH Hovding G Eide GE Biometric measurements of the eyes in teenagers and
young adults with Down syndromeActa Ophthalmol Scand 2001 Dec79(6)616-25
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
Haugen OH Hovding G Lundstrom IRefractive development in children
with Downs syndrome a population based longitudinal study Br J Ophthalmol
2001 Jun85(6)714-9
hellipAccommodation weakness may be of
aetiological importance to the high
frequency of refractive errors
encountered in patients with Downs syndrome
Stewart RE Woodhouse JM Cregg M Pakeman VH Association
between accommodative accuracy hypermetropia and strabismus
in children with Downs syndrome Optom Vis Sci 2007
Feb84(2)149-55
hellipThis study demonstrates the marked
association between under-
accommodation hypermetropia and
strabismus in children with Downs
syndrome hellip
Haugen OH Hovding GStrabismus and binocular function in children with
Down syndrome A population-based longitudinal studyActa Ophthalmol
Scand 2001 Apr79(2)133-9
hellipThe 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 helliphellip
Stewart RE Woodhouse MJ Trojanowska LD In focus
the use of bifocal spectacles with children with Downs
bull What are itrsquos physicalvisual characteristics
Fragile X Syndrome
Most frequently encountered inherited form of
mental retardation (X-linked MR)
Often misdiagnosed in the past
ldquoNewrdquo 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 1600 in affected males
12500-4000 males 17000-8000 females
female carriers 1130-250 population
male carrier 1250-800
10 of undiagnosed ID in males
3 of previously undiagnosed ID in females
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism
(80 affected men)
Other hypotonia seizures
recurrent otitis
media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
10
Fragile X Syndrome Characteristics
bull First demonstrated genetic etiology of
learning disability
bull Variable mental retardation
bull Math language delay
bull Sensory integration problems
bull Attentional deficits
bull Psychiatric illnesses (shy)
Fragile X Syndrome Characteristics
Gaze Avoidance
How do you conduct an
examination on an individual
that wonrsquot look at you
Fragile X Syndrome Diagnosis
Genetics
bull Triplet nucleotide repeated sequence bullcytosine guanine guanine (CGG) bull0-50 CGG repeats normal 50-200 premutation gt 200 full syndrome
bull Fragile site on X chromosome (band
q273)
Fragile X Syndrome Ocular Findings
bull Strabismus (33-50)
bull Nystagmus
bull Refractive error
bull Accommodative dysfunctions
bull Oculomotor anomalies
bull Ocular Health
bull Perceptual dysfunction
Whatrsquos New in Fragile X Syndrome
bull Hatton DD Buckley E Lachiewicz A Roberts J Ocular status of boys with fragile X syndrome a
prospective study J AAPOS 1998 Oct2(5)298-302
hellipobserve a higher prevalence of strabismus than
that found in the general population (8 vs 05
to 1hellip 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
11
Whatrsquos New in Fragile X Syndrome
Block SS Brusca-Vega R Pizzi WJ Berry-Kravis E Maino DM Treitman TMCognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriersOptom Vis Sci 2000 Nov77(11)592-9
hellipfull 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 hellip
Whatrsquos 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 Oct16(5)525-40PMID
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 Nov77(11)592-9PMID
11138833
Whatrsquos New in Fragile X Syndrome
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 May66(5)
Optometric findings in the fragile X syndrome Maino DM Wesson
M Schlange D Cibis G Maino JH Optom Vis Sci 1991
Aug68(8)
Mental retardation syndromes with associated ocular defects Maino
DM Maino JH Maino SA
J Am Optom Assoc 1990 Sep61(9)707-16
Ocular anomalies in fragile X syndrome Maino DM Schlange D
Maino JH Caden B J Am Optom Assoc 1990 Apr61(4)316-23
Fragile X-associated tremorataxia syndrome
(FXTAS)
reported in 33-40 of men older than 50 years and less
frequently (4-8) in older women with premutations in the
fragile X mental retardation (FMR1) gene
Clinical features (FXTAS) incontinence impotence cerebellar
Illinois Eye Institute Illinois College of Optometry
3241 S Michigan Ave Chicago Il 60616
312-949-7280 (phone) 312-949-7660 (fax)
dmainoicoedu
wwwicoedu LyonsFamilyEyeCarecom
MainosMemoscom
5
Cerebral Palsy Binocular
Characteristics
bull Prevalence of strabismus exceeds that of
general population by a factor of 10
bull Slightly more esotropia than exotropia
bull Dyskinetic Strabismus bull slow tonic deviation similar to vergence
bull change from ET to XT bull usually associated with athetoid classification
Cerebral Palsy InteractionTips
bull Positioning
bull Right tools (objective)
bull No sudden movement
bull No loud unexpected noises
bull Speak smoothly soothingly softlyhellipif
appropriate sing to the patient
bull Smile smile SMILE
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-
Apr31(2)488-95 Epub 2009 Dec 5
hellipOverall 73 patients had impairments hellipthe majority of which presenting difficulties on both visuoperceptual and visuospatial tasks (79) hellip
Cerebral Palsy
bull 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 Jun51(6)2885-90 Epub 2010 Jan 27
hellip A significantly higher prevalence and magnitude of refractive error was found in the CP group hellip Higher spherical refractive errors were significantly associated with the nonspastic CP hellip The presence and magnitude of astigmatism were greater when intellectual impairment was more severe hellip High refractive errors are common in CP pointing to impairment of the emmetropization process hellip
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 May47(5)1824-30
Brain injury such as that present in CP has a significant impact on accommodative function These findings have implications for the optometric care of children with CP and inform our understanding of the impact of early brain injury on visual development
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 Oct42(10)701-3 Links
hellipThe 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 (ie for computer screens) and near distances (ie 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
6
Down Syndrome
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
From httpwwwndssorgaboutdsaboutdshtmlDown
Down Syndrome
bull What is it
bull What is itrsquos etiology
bull What is itrsquos prevalenceincidence
bull What are itrsquos physicalvisual characteristics
Down Syndrome
bullLangdon Down 1866
bullldquoMongolismrdquo no longer used
bullMost common genetic anomaly
bullVariable levels of ability amp disability
Down Syndrome
From 1979 to 2003 the prevalence of
Down syndrome increased by 311
from 90 to 118 per 10000 live births
In 2002 prevalence among children and
adolescents aged 0 to 19 was 1 in 971 or
approximately 83400 children and
adolescents living with Down syndrome
in the Unites States
Down Syndrome PrevalenceIncidence
bull 1 in 12 for older mothers (gt=49yrs of age)
bull Most babies with Down syndrome born to
younger mothers (80 born to moms younger than 35)
bull Most frequently encounter ldquoviablerdquo genetic
anomaly
bull Most frequently encounter ldquospecialrdquo patient
bull Genetics bull 95 demonstrate non-disjunction of one chromosome during meiosis (Trisomy 21)
bull 2-4 mosaicism bull 3-4 Robertsonian translocation of the long arm of chromosome 21 to another chromosome usually 14
bull risk of having a second child with Trisomy 21 or mosaic Down syndrome is 1 in 100 The risk is higher if one parent is a carrier of a translocated cell
Down Syndrome Etiology
bull Genetics Trisomy 21
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 amp Maino) Down syndrome and
strabismus shows a constant unilateral
esotropia of less than 20 PD at near (Greatly reduced number show ET at distance)
Itrsquos suggested that the etiology is a high
ACA ratio rather that of a basic ET
Whatrsquos New in Down Syndrome
Al-Bagdady M Stewart RE Watts P Murphy PJ Woodhouse JM Bifocals
and Downs syndrome correction or treatment Ophthalmic Physiol
Opt 2009 Jul29(4)416-21 Epub 2009 May 11
Accommodation is reduced in approximately 75 of
children with Downs syndrome (DS) Bifocals have
been shown to be beneficial and they are currently
prescribed regularly hellip 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 hellip
8
Whatrsquos New in Down Syndrome
Haugen OH Hovding G Eide GE Biometric measurements of the eyes in teenagers and
young adults with Down syndromeActa Ophthalmol Scand 2001 Dec79(6)616-25
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
Haugen OH Hovding G Lundstrom IRefractive development in children
with Downs syndrome a population based longitudinal study Br J Ophthalmol
2001 Jun85(6)714-9
hellipAccommodation weakness may be of
aetiological importance to the high
frequency of refractive errors
encountered in patients with Downs syndrome
Stewart RE Woodhouse JM Cregg M Pakeman VH Association
between accommodative accuracy hypermetropia and strabismus
in children with Downs syndrome Optom Vis Sci 2007
Feb84(2)149-55
hellipThis study demonstrates the marked
association between under-
accommodation hypermetropia and
strabismus in children with Downs
syndrome hellip
Haugen OH Hovding GStrabismus and binocular function in children with
Down syndrome A population-based longitudinal studyActa Ophthalmol
Scand 2001 Apr79(2)133-9
hellipThe 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 helliphellip
Stewart RE Woodhouse MJ Trojanowska LD In focus
the use of bifocal spectacles with children with Downs
bull What are itrsquos physicalvisual characteristics
Fragile X Syndrome
Most frequently encountered inherited form of
mental retardation (X-linked MR)
Often misdiagnosed in the past
ldquoNewrdquo 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 1600 in affected males
12500-4000 males 17000-8000 females
female carriers 1130-250 population
male carrier 1250-800
10 of undiagnosed ID in males
3 of previously undiagnosed ID in females
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism
(80 affected men)
Other hypotonia seizures
recurrent otitis
media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
10
Fragile X Syndrome Characteristics
bull First demonstrated genetic etiology of
learning disability
bull Variable mental retardation
bull Math language delay
bull Sensory integration problems
bull Attentional deficits
bull Psychiatric illnesses (shy)
Fragile X Syndrome Characteristics
Gaze Avoidance
How do you conduct an
examination on an individual
that wonrsquot look at you
Fragile X Syndrome Diagnosis
Genetics
bull Triplet nucleotide repeated sequence bullcytosine guanine guanine (CGG) bull0-50 CGG repeats normal 50-200 premutation gt 200 full syndrome
bull Fragile site on X chromosome (band
q273)
Fragile X Syndrome Ocular Findings
bull Strabismus (33-50)
bull Nystagmus
bull Refractive error
bull Accommodative dysfunctions
bull Oculomotor anomalies
bull Ocular Health
bull Perceptual dysfunction
Whatrsquos New in Fragile X Syndrome
bull Hatton DD Buckley E Lachiewicz A Roberts J Ocular status of boys with fragile X syndrome a
prospective study J AAPOS 1998 Oct2(5)298-302
hellipobserve a higher prevalence of strabismus than
that found in the general population (8 vs 05
to 1hellip 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
11
Whatrsquos New in Fragile X Syndrome
Block SS Brusca-Vega R Pizzi WJ Berry-Kravis E Maino DM Treitman TMCognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriersOptom Vis Sci 2000 Nov77(11)592-9
hellipfull 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 hellip
Whatrsquos 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 Oct16(5)525-40PMID
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 Nov77(11)592-9PMID
11138833
Whatrsquos New in Fragile X Syndrome
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 May66(5)
Optometric findings in the fragile X syndrome Maino DM Wesson
M Schlange D Cibis G Maino JH Optom Vis Sci 1991
Aug68(8)
Mental retardation syndromes with associated ocular defects Maino
DM Maino JH Maino SA
J Am Optom Assoc 1990 Sep61(9)707-16
Ocular anomalies in fragile X syndrome Maino DM Schlange D
Maino JH Caden B J Am Optom Assoc 1990 Apr61(4)316-23
Fragile X-associated tremorataxia syndrome
(FXTAS)
reported in 33-40 of men older than 50 years and less
frequently (4-8) in older women with premutations in the
fragile X mental retardation (FMR1) gene
Clinical features (FXTAS) incontinence impotence cerebellar
bull Genetics bull 95 demonstrate non-disjunction of one chromosome during meiosis (Trisomy 21)
bull 2-4 mosaicism bull 3-4 Robertsonian translocation of the long arm of chromosome 21 to another chromosome usually 14
bull risk of having a second child with Trisomy 21 or mosaic Down syndrome is 1 in 100 The risk is higher if one parent is a carrier of a translocated cell
Down Syndrome Etiology
bull Genetics Trisomy 21
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 amp Maino) Down syndrome and
strabismus shows a constant unilateral
esotropia of less than 20 PD at near (Greatly reduced number show ET at distance)
Itrsquos suggested that the etiology is a high
ACA ratio rather that of a basic ET
Whatrsquos New in Down Syndrome
Al-Bagdady M Stewart RE Watts P Murphy PJ Woodhouse JM Bifocals
and Downs syndrome correction or treatment Ophthalmic Physiol
Opt 2009 Jul29(4)416-21 Epub 2009 May 11
Accommodation is reduced in approximately 75 of
children with Downs syndrome (DS) Bifocals have
been shown to be beneficial and they are currently
prescribed regularly hellip 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 hellip
8
Whatrsquos New in Down Syndrome
Haugen OH Hovding G Eide GE Biometric measurements of the eyes in teenagers and
young adults with Down syndromeActa Ophthalmol Scand 2001 Dec79(6)616-25
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
Haugen OH Hovding G Lundstrom IRefractive development in children
with Downs syndrome a population based longitudinal study Br J Ophthalmol
2001 Jun85(6)714-9
hellipAccommodation weakness may be of
aetiological importance to the high
frequency of refractive errors
encountered in patients with Downs syndrome
Stewart RE Woodhouse JM Cregg M Pakeman VH Association
between accommodative accuracy hypermetropia and strabismus
in children with Downs syndrome Optom Vis Sci 2007
Feb84(2)149-55
hellipThis study demonstrates the marked
association between under-
accommodation hypermetropia and
strabismus in children with Downs
syndrome hellip
Haugen OH Hovding GStrabismus and binocular function in children with
Down syndrome A population-based longitudinal studyActa Ophthalmol
Scand 2001 Apr79(2)133-9
hellipThe 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 helliphellip
Stewart RE Woodhouse MJ Trojanowska LD In focus
the use of bifocal spectacles with children with Downs
bull What are itrsquos physicalvisual characteristics
Fragile X Syndrome
Most frequently encountered inherited form of
mental retardation (X-linked MR)
Often misdiagnosed in the past
ldquoNewrdquo 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 1600 in affected males
12500-4000 males 17000-8000 females
female carriers 1130-250 population
male carrier 1250-800
10 of undiagnosed ID in males
3 of previously undiagnosed ID in females
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism
(80 affected men)
Other hypotonia seizures
recurrent otitis
media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
10
Fragile X Syndrome Characteristics
bull First demonstrated genetic etiology of
learning disability
bull Variable mental retardation
bull Math language delay
bull Sensory integration problems
bull Attentional deficits
bull Psychiatric illnesses (shy)
Fragile X Syndrome Characteristics
Gaze Avoidance
How do you conduct an
examination on an individual
that wonrsquot look at you
Fragile X Syndrome Diagnosis
Genetics
bull Triplet nucleotide repeated sequence bullcytosine guanine guanine (CGG) bull0-50 CGG repeats normal 50-200 premutation gt 200 full syndrome
bull Fragile site on X chromosome (band
q273)
Fragile X Syndrome Ocular Findings
bull Strabismus (33-50)
bull Nystagmus
bull Refractive error
bull Accommodative dysfunctions
bull Oculomotor anomalies
bull Ocular Health
bull Perceptual dysfunction
Whatrsquos New in Fragile X Syndrome
bull Hatton DD Buckley E Lachiewicz A Roberts J Ocular status of boys with fragile X syndrome a
prospective study J AAPOS 1998 Oct2(5)298-302
hellipobserve a higher prevalence of strabismus than
that found in the general population (8 vs 05
to 1hellip 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
11
Whatrsquos New in Fragile X Syndrome
Block SS Brusca-Vega R Pizzi WJ Berry-Kravis E Maino DM Treitman TMCognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriersOptom Vis Sci 2000 Nov77(11)592-9
hellipfull 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 hellip
Whatrsquos 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 Oct16(5)525-40PMID
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 Nov77(11)592-9PMID
11138833
Whatrsquos New in Fragile X Syndrome
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 May66(5)
Optometric findings in the fragile X syndrome Maino DM Wesson
M Schlange D Cibis G Maino JH Optom Vis Sci 1991
Aug68(8)
Mental retardation syndromes with associated ocular defects Maino
DM Maino JH Maino SA
J Am Optom Assoc 1990 Sep61(9)707-16
Ocular anomalies in fragile X syndrome Maino DM Schlange D
Maino JH Caden B J Am Optom Assoc 1990 Apr61(4)316-23
Fragile X-associated tremorataxia syndrome
(FXTAS)
reported in 33-40 of men older than 50 years and less
frequently (4-8) in older women with premutations in the
fragile X mental retardation (FMR1) gene
Clinical features (FXTAS) incontinence impotence cerebellar
Illinois Eye Institute Illinois College of Optometry
3241 S Michigan Ave Chicago Il 60616
312-949-7280 (phone) 312-949-7660 (fax)
dmainoicoedu
wwwicoedu LyonsFamilyEyeCarecom
MainosMemoscom
7
You will see individual with Down
Syndrome in Your Office Down Syndrome Etiology
bull Genetics bull 95 demonstrate non-disjunction of one chromosome during meiosis (Trisomy 21)
bull 2-4 mosaicism bull 3-4 Robertsonian translocation of the long arm of chromosome 21 to another chromosome usually 14
bull risk of having a second child with Trisomy 21 or mosaic Down syndrome is 1 in 100 The risk is higher if one parent is a carrier of a translocated cell
Down Syndrome Etiology
bull Genetics Trisomy 21
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 amp Maino) Down syndrome and
strabismus shows a constant unilateral
esotropia of less than 20 PD at near (Greatly reduced number show ET at distance)
Itrsquos suggested that the etiology is a high
ACA ratio rather that of a basic ET
Whatrsquos New in Down Syndrome
Al-Bagdady M Stewart RE Watts P Murphy PJ Woodhouse JM Bifocals
and Downs syndrome correction or treatment Ophthalmic Physiol
Opt 2009 Jul29(4)416-21 Epub 2009 May 11
Accommodation is reduced in approximately 75 of
children with Downs syndrome (DS) Bifocals have
been shown to be beneficial and they are currently
prescribed regularly hellip 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 hellip
8
Whatrsquos New in Down Syndrome
Haugen OH Hovding G Eide GE Biometric measurements of the eyes in teenagers and
young adults with Down syndromeActa Ophthalmol Scand 2001 Dec79(6)616-25
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
Haugen OH Hovding G Lundstrom IRefractive development in children
with Downs syndrome a population based longitudinal study Br J Ophthalmol
2001 Jun85(6)714-9
hellipAccommodation weakness may be of
aetiological importance to the high
frequency of refractive errors
encountered in patients with Downs syndrome
Stewart RE Woodhouse JM Cregg M Pakeman VH Association
between accommodative accuracy hypermetropia and strabismus
in children with Downs syndrome Optom Vis Sci 2007
Feb84(2)149-55
hellipThis study demonstrates the marked
association between under-
accommodation hypermetropia and
strabismus in children with Downs
syndrome hellip
Haugen OH Hovding GStrabismus and binocular function in children with
Down syndrome A population-based longitudinal studyActa Ophthalmol
Scand 2001 Apr79(2)133-9
hellipThe 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 helliphellip
Stewart RE Woodhouse MJ Trojanowska LD In focus
the use of bifocal spectacles with children with Downs
bull What are itrsquos physicalvisual characteristics
Fragile X Syndrome
Most frequently encountered inherited form of
mental retardation (X-linked MR)
Often misdiagnosed in the past
ldquoNewrdquo 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 1600 in affected males
12500-4000 males 17000-8000 females
female carriers 1130-250 population
male carrier 1250-800
10 of undiagnosed ID in males
3 of previously undiagnosed ID in females
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism
(80 affected men)
Other hypotonia seizures
recurrent otitis
media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
10
Fragile X Syndrome Characteristics
bull First demonstrated genetic etiology of
learning disability
bull Variable mental retardation
bull Math language delay
bull Sensory integration problems
bull Attentional deficits
bull Psychiatric illnesses (shy)
Fragile X Syndrome Characteristics
Gaze Avoidance
How do you conduct an
examination on an individual
that wonrsquot look at you
Fragile X Syndrome Diagnosis
Genetics
bull Triplet nucleotide repeated sequence bullcytosine guanine guanine (CGG) bull0-50 CGG repeats normal 50-200 premutation gt 200 full syndrome
bull Fragile site on X chromosome (band
q273)
Fragile X Syndrome Ocular Findings
bull Strabismus (33-50)
bull Nystagmus
bull Refractive error
bull Accommodative dysfunctions
bull Oculomotor anomalies
bull Ocular Health
bull Perceptual dysfunction
Whatrsquos New in Fragile X Syndrome
bull Hatton DD Buckley E Lachiewicz A Roberts J Ocular status of boys with fragile X syndrome a
prospective study J AAPOS 1998 Oct2(5)298-302
hellipobserve a higher prevalence of strabismus than
that found in the general population (8 vs 05
to 1hellip 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
11
Whatrsquos New in Fragile X Syndrome
Block SS Brusca-Vega R Pizzi WJ Berry-Kravis E Maino DM Treitman TMCognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriersOptom Vis Sci 2000 Nov77(11)592-9
hellipfull 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 hellip
Whatrsquos 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 Oct16(5)525-40PMID
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 Nov77(11)592-9PMID
11138833
Whatrsquos New in Fragile X Syndrome
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 May66(5)
Optometric findings in the fragile X syndrome Maino DM Wesson
M Schlange D Cibis G Maino JH Optom Vis Sci 1991
Aug68(8)
Mental retardation syndromes with associated ocular defects Maino
DM Maino JH Maino SA
J Am Optom Assoc 1990 Sep61(9)707-16
Ocular anomalies in fragile X syndrome Maino DM Schlange D
Maino JH Caden B J Am Optom Assoc 1990 Apr61(4)316-23
Fragile X-associated tremorataxia syndrome
(FXTAS)
reported in 33-40 of men older than 50 years and less
frequently (4-8) in older women with premutations in the
fragile X mental retardation (FMR1) gene
Clinical features (FXTAS) incontinence impotence cerebellar
bull What are itrsquos physicalvisual characteristics
Fragile X Syndrome
Most frequently encountered inherited form of
mental retardation (X-linked MR)
Often misdiagnosed in the past
ldquoNewrdquo 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 1600 in affected males
12500-4000 males 17000-8000 females
female carriers 1130-250 population
male carrier 1250-800
10 of undiagnosed ID in males
3 of previously undiagnosed ID in females
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism
(80 affected men)
Other hypotonia seizures
recurrent otitis
media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
10
Fragile X Syndrome Characteristics
bull First demonstrated genetic etiology of
learning disability
bull Variable mental retardation
bull Math language delay
bull Sensory integration problems
bull Attentional deficits
bull Psychiatric illnesses (shy)
Fragile X Syndrome Characteristics
Gaze Avoidance
How do you conduct an
examination on an individual
that wonrsquot look at you
Fragile X Syndrome Diagnosis
Genetics
bull Triplet nucleotide repeated sequence bullcytosine guanine guanine (CGG) bull0-50 CGG repeats normal 50-200 premutation gt 200 full syndrome
bull Fragile site on X chromosome (band
q273)
Fragile X Syndrome Ocular Findings
bull Strabismus (33-50)
bull Nystagmus
bull Refractive error
bull Accommodative dysfunctions
bull Oculomotor anomalies
bull Ocular Health
bull Perceptual dysfunction
Whatrsquos New in Fragile X Syndrome
bull Hatton DD Buckley E Lachiewicz A Roberts J Ocular status of boys with fragile X syndrome a
prospective study J AAPOS 1998 Oct2(5)298-302
hellipobserve a higher prevalence of strabismus than
that found in the general population (8 vs 05
to 1hellip 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
11
Whatrsquos New in Fragile X Syndrome
Block SS Brusca-Vega R Pizzi WJ Berry-Kravis E Maino DM Treitman TMCognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriersOptom Vis Sci 2000 Nov77(11)592-9
hellipfull 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 hellip
Whatrsquos 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 Oct16(5)525-40PMID
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 Nov77(11)592-9PMID
11138833
Whatrsquos New in Fragile X Syndrome
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 May66(5)
Optometric findings in the fragile X syndrome Maino DM Wesson
M Schlange D Cibis G Maino JH Optom Vis Sci 1991
Aug68(8)
Mental retardation syndromes with associated ocular defects Maino
DM Maino JH Maino SA
J Am Optom Assoc 1990 Sep61(9)707-16
Ocular anomalies in fragile X syndrome Maino DM Schlange D
Maino JH Caden B J Am Optom Assoc 1990 Apr61(4)316-23
Fragile X-associated tremorataxia syndrome
(FXTAS)
reported in 33-40 of men older than 50 years and less
frequently (4-8) in older women with premutations in the
fragile X mental retardation (FMR1) gene
Clinical features (FXTAS) incontinence impotence cerebellar
Illinois Eye Institute Illinois College of Optometry
3241 S Michigan Ave Chicago Il 60616
312-949-7280 (phone) 312-949-7660 (fax)
dmainoicoedu
wwwicoedu LyonsFamilyEyeCarecom
MainosMemoscom
9
Fragile X Syndrome
bull What is it
bull What is itrsquos etiology
bull What is itrsquos prevalenceincidence
bull What are itrsquos physicalvisual characteristics
Fragile X Syndrome
Most frequently encountered inherited form of
mental retardation (X-linked MR)
Often misdiagnosed in the past
ldquoNewrdquo 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 1600 in affected males
12500-4000 males 17000-8000 females
female carriers 1130-250 population
male carrier 1250-800
10 of undiagnosed ID in males
3 of previously undiagnosed ID in females
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism
(80 affected men)
Other hypotonia seizures
recurrent otitis
media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
Fragile X Syndrome Characteristics
bull Large prominent ears
bull Long narrow face
bull Macro-orchidism (80
affected men)
Other hypotonia seizures
recurrent otitis media
10
Fragile X Syndrome Characteristics
bull First demonstrated genetic etiology of
learning disability
bull Variable mental retardation
bull Math language delay
bull Sensory integration problems
bull Attentional deficits
bull Psychiatric illnesses (shy)
Fragile X Syndrome Characteristics
Gaze Avoidance
How do you conduct an
examination on an individual
that wonrsquot look at you
Fragile X Syndrome Diagnosis
Genetics
bull Triplet nucleotide repeated sequence bullcytosine guanine guanine (CGG) bull0-50 CGG repeats normal 50-200 premutation gt 200 full syndrome
bull Fragile site on X chromosome (band
q273)
Fragile X Syndrome Ocular Findings
bull Strabismus (33-50)
bull Nystagmus
bull Refractive error
bull Accommodative dysfunctions
bull Oculomotor anomalies
bull Ocular Health
bull Perceptual dysfunction
Whatrsquos New in Fragile X Syndrome
bull Hatton DD Buckley E Lachiewicz A Roberts J Ocular status of boys with fragile X syndrome a
prospective study J AAPOS 1998 Oct2(5)298-302
hellipobserve a higher prevalence of strabismus than
that found in the general population (8 vs 05
to 1hellip 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
11
Whatrsquos New in Fragile X Syndrome
Block SS Brusca-Vega R Pizzi WJ Berry-Kravis E Maino DM Treitman TMCognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriersOptom Vis Sci 2000 Nov77(11)592-9
hellipfull 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 hellip
Whatrsquos 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 Oct16(5)525-40PMID
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 Nov77(11)592-9PMID
11138833
Whatrsquos New in Fragile X Syndrome
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 May66(5)
Optometric findings in the fragile X syndrome Maino DM Wesson
M Schlange D Cibis G Maino JH Optom Vis Sci 1991
Aug68(8)
Mental retardation syndromes with associated ocular defects Maino
DM Maino JH Maino SA
J Am Optom Assoc 1990 Sep61(9)707-16
Ocular anomalies in fragile X syndrome Maino DM Schlange D
Maino JH Caden B J Am Optom Assoc 1990 Apr61(4)316-23
Fragile X-associated tremorataxia syndrome
(FXTAS)
reported in 33-40 of men older than 50 years and less
frequently (4-8) in older women with premutations in the
fragile X mental retardation (FMR1) gene
Clinical features (FXTAS) incontinence impotence cerebellar
Illinois Eye Institute Illinois College of Optometry
3241 S Michigan Ave Chicago Il 60616
312-949-7280 (phone) 312-949-7660 (fax)
dmainoicoedu
wwwicoedu LyonsFamilyEyeCarecom
MainosMemoscom
10
Fragile X Syndrome Characteristics
bull First demonstrated genetic etiology of
learning disability
bull Variable mental retardation
bull Math language delay
bull Sensory integration problems
bull Attentional deficits
bull Psychiatric illnesses (shy)
Fragile X Syndrome Characteristics
Gaze Avoidance
How do you conduct an
examination on an individual
that wonrsquot look at you
Fragile X Syndrome Diagnosis
Genetics
bull Triplet nucleotide repeated sequence bullcytosine guanine guanine (CGG) bull0-50 CGG repeats normal 50-200 premutation gt 200 full syndrome
bull Fragile site on X chromosome (band
q273)
Fragile X Syndrome Ocular Findings
bull Strabismus (33-50)
bull Nystagmus
bull Refractive error
bull Accommodative dysfunctions
bull Oculomotor anomalies
bull Ocular Health
bull Perceptual dysfunction
Whatrsquos New in Fragile X Syndrome
bull Hatton DD Buckley E Lachiewicz A Roberts J Ocular status of boys with fragile X syndrome a
prospective study J AAPOS 1998 Oct2(5)298-302
hellipobserve a higher prevalence of strabismus than
that found in the general population (8 vs 05
to 1hellip 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
11
Whatrsquos New in Fragile X Syndrome
Block SS Brusca-Vega R Pizzi WJ Berry-Kravis E Maino DM Treitman TMCognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriersOptom Vis Sci 2000 Nov77(11)592-9
hellipfull 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 hellip
Whatrsquos 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 Oct16(5)525-40PMID
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 Nov77(11)592-9PMID
11138833
Whatrsquos New in Fragile X Syndrome
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 May66(5)
Optometric findings in the fragile X syndrome Maino DM Wesson
M Schlange D Cibis G Maino JH Optom Vis Sci 1991
Aug68(8)
Mental retardation syndromes with associated ocular defects Maino
DM Maino JH Maino SA
J Am Optom Assoc 1990 Sep61(9)707-16
Ocular anomalies in fragile X syndrome Maino DM Schlange D
Maino JH Caden B J Am Optom Assoc 1990 Apr61(4)316-23
Fragile X-associated tremorataxia syndrome
(FXTAS)
reported in 33-40 of men older than 50 years and less
frequently (4-8) in older women with premutations in the
fragile X mental retardation (FMR1) gene
Clinical features (FXTAS) incontinence impotence cerebellar
Illinois Eye Institute Illinois College of Optometry
3241 S Michigan Ave Chicago Il 60616
312-949-7280 (phone) 312-949-7660 (fax)
dmainoicoedu
wwwicoedu LyonsFamilyEyeCarecom
MainosMemoscom
11
Whatrsquos New in Fragile X Syndrome
Block SS Brusca-Vega R Pizzi WJ Berry-Kravis E Maino DM Treitman TMCognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriersOptom Vis Sci 2000 Nov77(11)592-9
hellipfull 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 hellip
Whatrsquos 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 Oct16(5)525-40PMID
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 Nov77(11)592-9PMID
11138833
Whatrsquos New in Fragile X Syndrome
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 May66(5)
Optometric findings in the fragile X syndrome Maino DM Wesson
M Schlange D Cibis G Maino JH Optom Vis Sci 1991
Aug68(8)
Mental retardation syndromes with associated ocular defects Maino
DM Maino JH Maino SA
J Am Optom Assoc 1990 Sep61(9)707-16
Ocular anomalies in fragile X syndrome Maino DM Schlange D
Maino JH Caden B J Am Optom Assoc 1990 Apr61(4)316-23
Fragile X-associated tremorataxia syndrome
(FXTAS)
reported in 33-40 of men older than 50 years and less
frequently (4-8) in older women with premutations in the
fragile X mental retardation (FMR1) gene
Clinical features (FXTAS) incontinence impotence cerebellar