Transcript Inborn Errors of Metabolism

Board Review 4/30/2013
Which topic would you prefer for our final board
review?
A. Emergency Care
B. Disorders of the Eye
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Intelligibility of speech by a stranger:
 Age 2: 50%
 Age 3: 75%
 Age 4: 100%
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Dysfluency of speech is normal during the rapid
attainment of speech in preschool children
(around age 2-3)
 Typically resolves by age 4
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Articulation of all consonant sounds is not
complete until 6-8 years of age
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Exposure to language
 Economically disadvantaged homes have less
exposure to language and varied verbal interactions
 The more parents talk to their children the more rapid
their vocabulary growth
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Exposure to reading
 Amount of time being read
to influences reading
proficiency
You are seeing a 3yo boy for a health supervision visit. He
has a vocabulary of 50 words and does not combine
words. Past medical history is negative. He has no
history of recurrent ear infections and achieved gross
motor milestones at appropriate ages. He resides in a
bilingual household. His father had delayed speech, his
older brother received speech therapy in elementary
school, and his older sister had difficulty with reading
comprehension. Of the following, the MOST likely
contributing factor for this boy's language delay is
A. A bilingual household
B. Being third born
C. Genetic predisposition
D. Hearing loss
E. His gender
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Language development in infancy and early
childhood is a better predictor of cognitive function
than motor development
‘Language Disorder’ refers to a deficit in the
comprehension (receptive) or production
(expressive) of language
 ‘Disorder’ = causes impairment in functioning
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Delayed language may or may not be clinically
significant  need speech-language clinician to help
 13-18% of toddlers have “late-talking”
 50% of these will have persistent language deficit
 Factors that are associated with delays: family history**,
low socioeconomic status, richness of language
environment
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Bilingual family is NOT
a risk factor for
language delay
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First words may
emerge slightly later
but within normal limits
Mixing of words or
grammar can be seen
until age 3 or 4
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Specific Language Impairment (SLI)
 Biologically based neuodevelopmental disorder of oral language
acquisition
 No other cause identified (autism, brain damage, hearing loss, etc)
 Problems with syntax, grammar, tenses, plurals, possessives, openended questions, reading comprehension
 Presents in preschool years or kindergarten
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Phonologic Disorder
 Impaired ability to articulate speech sounds
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Childhood Apraxia of Speech
 Severe and persistent speech intelligibility disorder
 Impaired ability to imitate and produce speech sounds
 Due to CNS-based problems planning, sequencing, and
coordinating oral-motor movements
 Likely genetic in origin
During a health supervision visit for a 5-year-old girl,
her father reports that she has developed a stutter
over the past 6 months. He explains that at times she
seems a little frustrated when she speaks but
otherwise is happy and well-adjusted. You notice the
father also has a mild stutter. Of the following, the risk
factor that MOST strongly suggests the need for
speech therapy for the girl is:
A. Age of onset of the stutter
B. Her reaction to stuttering
C. Her gender
D. The father’s stutter
E. Time since onset of stutter
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Stuttering
 M > F (3:1), strong genetic component
 Onset typically around 4-5 years
 **Normal dyfluency of speech until age 4, after this age a referral is
warranted for the stutter**
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Dysarthria
 Disorder of motor control of muscles required for speech production
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Dyslexia
 Deficit in the ability to recognize words in print and phonemes within
words
 Genetic influence
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Hearing Impairment
 Auditory input is critical for organizing the neural pathways associated
with speech
 Concern for ANY speech/language delays should involve an audiologic
assessment
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Autism/Genetic Syndromes
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Surveillance for child’s speech development at all
health supervision visits
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Surveillance for child’s speech development at all
health supervision visits
Formal screening at 9, 18, and 24 or 30 months
 No “gold standard” screening tool
 Ages and Stages is an example of one
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Risk factors: positive family history, prematurity,
male sex
Obvious risk factors: hearing impairment,
craniofacial abnormalities, syndromes associated
with language impairment
 Immediate referral for evaluation and treatment
You are seeing an 20-month old boy who does not say
any words at all. His parents are concerned that he is
not developing like his peers and that he is not yet
talking. Other than two episodes of otitis media in
the past year he has been in good health. His
physical exam is normal. Of the following options,
the most appropriate next step is to:
A. Order EEG
B. Order brain MRI
C. Reassure the parents and follow up in 6 months
D. Refer the child for a neurologic evaluation
E. Refer the child to audiology
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Suspected speech/language problem 
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Refer to audiology and speech specialist
Age <3: refer to local early intervention program
Age > 3: refer to public school early childhood program
Concern about global delay or autism  further
diagnosis and evaluation by development specialist
Educate parents
 Language-rich environment, child-directed
conversation, early reading, vocabulary building
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Speech Therapy!!
 Interventions range from clinician-directed to childcentered
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If speech therapy has limited success: they will
consider an augmented communication device
 Range from picture communication boards to computers
that have synthesized speech output.
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Once speech therapy is initiated, psychoeducational
evaluation may be considered to determine if
additional specialized educational services are
required
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Diagnosis is difficult prior to age 3
However, early intervention initiated prior to age
3 has research proven positive benefits for these
children
There are signs of ASDs that are present as early
as 14-18 months:
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Lack of spontaneous seeking to share enjoyment
Lack of social and emotional reciprocity
Impairment in the use of non-verbal behaviors
Delay or lack of spoken language
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Development of social skills and language is
delayed or “out of sync” with motor, adaptive,
and cognitive function
Lack of social relatedness
Often content being alone
Deficits in “joint attention”
 Normal:
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Follow a point (10-12mos)
‘requesting’ (12-14mos)
‘commenting’ (14-16mos)
Video: http://www.autismspeaks.org/whatautism/video-glossary/glossary-terms [2,3,2]
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Deficits in social orienting
 Normal: Turn head when name called (8-10mos)
 Autism: Do not respond when name called
 May create concern about hearing
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Lack of or delayed symbolic play
 Normal:
 Simple pretend play (16-18mos)
 Complex pretend play (18-20mos)
 Autism
 Remain in sensory-motor stage
 Enjoy trial and error tasks; “rough house” play
 Little interest in toys; or use them in unusual ways
 Video [4,1,2]
During a health supervision visit for a 24 mo boy you notice that he
does not respond to his name and he repeatedly echoes words
and phrases. He recites a fairly complex car advertisement that
plays on television. An audiology evaluation is normal. On a
general developmental screening questionnaire, he is below the
“cut-off” for both communication and personal-social
development. He also scored in the risk range on the parentcompleted autism-specific screening questionnaire. You refer
him to a developmental-behavioral specialist, whose next
available appointment is in 6 months. Of the following, the
MOST appropriate additional step for this boy is to
A.
Order baseline EEG
B.
Encourage his mom to provide language stimulation activities
and re-evaluate in 6 months
C.
Start an amphetamine medication
D.
Refer him for early intervention services
E.
Refer him for evaluation for an augmented communication
device
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Delays in language or speech development have
been the most common presenting signs in
children diagnosed with ASD
Preverbal red flags:
 Unusually quiet or irritable
 Atypical vocalizations
 Fewer gestures
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Lack of to and fro babbling
Lack of inflection (jargoning) at 10-12 mos
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Absent or delayed speech
 Usually sensed around 18mos by parents
 Sometimes rationalized by the child being “shy” or an only
child
 Parents often overestimate the child’s receptive language
ability
 Referral for audiology and speech is appropriate first step
 If hearing and receptive language are normal, can monitor and try
to stimulate speech
 If hearing is normal but receptive language is delayed  refer to
developmental specialist or early intervention program
 Confirmed diagnosis is not necessary to make referral
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Language regression
 Seen in 25-30% of children with autism
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Atypical Language
 Echolalic (immediate or
delayed), ritualistic, not
functional (ie. pop-up
words)
 Exceptional verbal
memory or labeling skills
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May form strong attachment to specific unusual
item
 Piece of string, pen, etc
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Sterotypies
 Hand flapping, twirling, finger movements, rocking,
head nodding, toe walking, licking, sniffing
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Repetitive behaviors
 Lining objects up
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Hypo or Hypersensitivities to stimuli
Of the following, which characteristic would make you
more concerned about an Autism Spectrum Disorder
over an isolated profound hearing loss?
A. Child is hypervisual and makes eye contact to
communicate
B. Delay in onset of language
C. Child uses expressive hand gestures to
communicate his/her needs
D. Child doesn’t respond to his mother’s voice or to
any other environmental noise
E. Child engages in self-injurious behavior when he is
directed to a new activity
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Child with profound hearing loss
 Child is hypervisual; uses eye-contact and gestures to
communicate
 No reaction to human voice OR environmental sound
 Autism: will respond to environmental noise
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Cerebral Palsy
 Eye contact, sounds, facial expressions, conversations
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Isolated Intellectual Disability
 Don’t typically see language delays, odd interests/activities
 Autism can be co-morbid with other conditions with
intellectual disability (ie Fragile X)
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Isolated Speech/Language Delay
 Child uses eye-contact, gestures, social interaction
No Language Delay!
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No babbling by 9 months
No pointing or other gesture by 12months
No single words by 16 months
No 2-word spontaneous (not echolalic) phrases
by 24 months
Loss of language or social skills at any age
The AAP published surveillance and screening
guidelines for autism spectrum disorders as part
of a clinical report on ASD. They recommend 3
referrals for children with greater than 2 risk
factors for ASD. Which of the following is NOT
one of those mandated referrals?
A. Early intervention or school-based program
based on the child’s age
B. An ASD specialist or team of specialists for a
comprehensive evaluation
C. Neurology
D. Audiology
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Surveillance at every health supervision visit
Standardized ASD-screening tool at the 18 month
and 24 or 30 month visit or whenever a concern is
raised
Risk factors:
 Older sibling with ASD
 Parental concern
 Other caregiver concern
 Physician concern
If ≥ 2 risk factors OR concerning results on ASD screening
tool  refer!!
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Early intervention (<3yo) or school program (>3yo)
ASD specialist for comprehensive evaluation
Audiology
A 9yo boy with Autistic Disorder is displaying severely
aggressive behavior to his parents and teachers. He
has frequent tantrums when frustrated or upset
which include self-injurious behavior and throwing
objects. This behavior has persisted even despite
intensive behavioral and educational interventions.
His parents are interested in medication to help
handle him more safely at home. Of the following,
the MOST appropriate medication with which to
begin a trial is:
A. Lithium
B. Atypical antipsychotic
C. Melatonin
D. Serotonin reuptake inhibitor
E. Stimulant medication
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Comprehensive evaluation by ASD specialist
Coordinated care between variety of practioners
 Developmental/behavioral specialists, therapists,
teachers, social workers, subspecialists, vocational
staff
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Treat co-existing medical, psychiatric, behavioral
problems
Medications
 Risperidone
 Based on symptoms:
 Hyperactivity/inattention  ADHD medications
Can be a debilitating condition
 Deafness is associated with an increased risk of
learning disabilities and a resultant low reading
level.
 The first 36 months after birth represent a critical
period in cognitive and linguistic development
 Early identification and intervention are CRITICAL
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 Allows deaf and hearing-impaired children to approach their
peers in language skills and academics
 Those identified late often won’t reach the same level
You are seeing a newborn with sensorineural hearing
loss on her newborn hearing screen. Mom’s reports
prenatal history as unremarkable. On exam, the
baby has microcephaly and hepatomegaly with NO
other obvious physical abnormalities. The MOST
likely cause of the hearing loss is
A.
B.
C.
D.
E.
Congenital cytomegalovirus infection
Alport syndrome
Middle ear effusion
Prenatal rubella exposure
Usher syndrome
50%
You are seeing a 4 month old new patient in clinic today. The
family recently moved to your area. You review the records
sent from her previous PCP and note that she failed her ABR in
the hospital as a newborn. The parents say they never made it
to the follow-up test because of the move. Their reports on
developmental history seem appropriate. The baby smiles,
coos, and laughs out load during your exam.
What do you want to do next?
A.
B.
C.
D.
Ignore the test results from the newborn period. Obviously
the baby is developing fine
Perform an audiometry test in the office to test her hearing
Refer her for formal hearing evaluation with an audiologist
Reassure the parent but schedule a follow-up appointment
in 1 month so that you can continue to monitor her
language development
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Congenital hearing impairment cannot be detected
through simple observation
 Hearing-impaired infants achieve early language
milestones
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Smiling
Cooing
Babbling
Gesturing
There may be NO initial presenting complaints…or the
problems may be very SUBTLE!
This is why mandatory newborn hearing tests are SO
important!
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Should be performed in the newborn period…within 1 month
after birth!!
Otoacoustic Emissions (OAE)
 Detects sounds emitted from the cochlea in response to clicks
or tones
 Does not assess auditory neuropathy or cortical processing of
sound
 Significantly affected by fluid in the ear canal
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Auditory brainstem response (ABR)
 Measures the EEG response from the vestibulocochlear nerve
 Can detect auditory neuropathy…a condition prevalent in the
NICU population
 Does not assess cortical processing of sound
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IF abnormal screening results are obtained
 Formal hearing evaluation NO LATER than 3 months!
 Referral to audiologist for formal testing with diagnostic ABR
and other appropriate tests
 Implementation of services BY 6 months!
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False positives are fairly common, so reassure the
parents but also emphasize importance of repeat test!
Unfortunately, all congenital hearing loss is NOT
detected by newborn hearing screens
 Pediatricians should remain aware of risk factors and signs
of hearing loss in infants
 Refer for formal evaluation if present
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We must be able to recognize presenting complaints in
pre-school children with hearing impairment
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Speech delay and difficulty with articulation
Asking people to repeat themselves
Not hearing instructions
Listening to a loud television or music
Behavioral problems
Other areas that require interaction for learning
 Ability to understand and regulate emotions
 Accomplish complex motor skills
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We must ALSO recognize risk factors
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Because only 50% of children who have hearing loss are
identified by the use of risk indicators , all children
should have periodic objective assessment of their
hearing.
Conventional audiometry not reliable until at least 4y
What is the MOST common infectious cause of
acquired SENSORINEURAL hearing loss?
A.
B.
C.
D.
E.
Matoiditis
Bacterial meningitis
Pneumonia
Otitis media
Retropharyngeal abscess
The most common cause of acquired CHL is otitis media with effusion
***Among acquired infections, bacterial meningitis is the MOST
COMMON cause of childhood SNHL in (infants and children), ranging from
mild to profound depending on the severity of illness. ALL children who
have meningitis should have a hearing screen as soon as possible!
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The severity of the hearing impairment impacts the level
of language development in individual patients.
 Mild-to-moderate impairment (hearing loss less than 90 dB)
 Often improved with external amplification devices (hearing aids)
 With early therapy services can reach full academic potential
 Severe-to-profound impairment
 If SNHL will benefit from cochlear implants
 Will require more extensive educational activities/therapies
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The onset of hearing loss after age 5 years has a smaller,
but still significant, impact on language development.
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Educating deaf patients can be accomplished with
appropriately trained personnel and involvement of the
parents/family.
 “Family involvement, including verbal and nonverbal (gestures)
communication, has a more significant positive effect on
language development than any other specific type of
intervention.” (PREP)
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The pediatrician should help facilitate this process.
Other approaches:
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Hand-cued speech
Sign language
Manually coded English
Oral aural
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Intellectual disability
 Formerly known as mental retartdation
 Deficient performance (at or below 2 standard deviations
from the mean)
 Intellectual skills
 Functional skills
 Self help
 Adaptive behavior
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Learning disability
 Normal intelligence and adaptive functioning
 Isolated specific academic skills deficit
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DSM-IV Criteria
 When the individual’s achievement on individually
administered, standardized tests is substantially below
that expected for age, schooling, and level of
intelligence
 Reading
 Writing expression
 Mathematics
 Learning problem significantly interferes with
academic achievement or activities of daily living that
require these skills
You are seeing an 8yo little boy because mom is
worried about his struggles in school, particularly
with reading and attention. Which finding below is
seen in the disorder with a nearly 50% incidence of
reading disability?
A
B
C
D
E
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Close to 3 million children from 6-11yo are affected
by learning disabilities
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Reading disability
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Accounts for 80% of cases
Occurs in estimated 5-10% of population
Males > Females
Specific medical populations: Neurofibromatosis Type
1 patients can have a LD frequency of 50% or more
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Both genetic and neuroanatomic bases for disability
 A detailed family history is important!
 Inquire about parents, siblings, grandparents, uncles, aunts
and cousins
 History of any difficulty similar to the patient?
 Anyone with difficulty learning to read, spell, or learn a
foreign language?
 Full physical exam with FOCUS on skin and neurologic
evaluation
 Remember NF1 and link to learning disability and/or ADHD
 Assess neurologic “soft signs” on motor exam
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School-related difficulties are often multifactorial…LD,
attention problems, social issues, environment
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Different children may experience different degrees of
impairment
 Cognitive abilities and academic skills develop at different
rates for individual children
 Functioning is modulated by the presence or absence of
environmental supports
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Subtle presentation when compared to other
developmental disorders
 Often undetected until school entry or later
 Compensatory memorization of sight words, especially in
children with strong cognitive ability
Children with above average
intelligence cannot present with
learning disabilities.
A.
B.
True
False
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May present throughout a school career.
 Once compensatory mechanisms are no longer working,
the student will begin to have difficulty
 This happens as the “learn to read” approach progresses to
a “read to learn” mentality
 Problems also become apparent in classes like Social Studies
 May reflect reduced reading comprehension, short-term
memory, or a slow reading rate
 This will vary depending on the intellectual ability of the
patient
 Children with above average intelligence may have learning
disabilities and academic failure at later onset!
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Our goal as the pediatrician is to recognize learning
disabilities in the early stages…before progression to
school failure!
Learning disability may present as an ATTENTION
difficulty…OR the patient may also have ADHD.
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Intellectual disability
 Delays in developmental milestones
 Struggles in ALL subjects
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ADHD
 Distractability
 Disorganization
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Depression
 Lack of interest
 Friends
 Activities
 Sadness
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OCD
Drug use/abuse
A mother of a 6-year-old boy in your practice is concerned that
her son may have dyslexia. She has brought a sample of his
printing to the visit in which the boy wrote “ded” instead of
“bed” and “dad” instead of “bad”. She wants your advice on
what she should do to help her son learn to write properly.
A.
B.
C.
D.
E.
Reassure the mother that letter reversal can be normal
through age 7 years
Recommend a comprehensive psychoeducational
evaluation for learning disability
Recommend neurologic evaluation
Refer the child for oculometric therapy
Reassure the mother that letter reversal can be normal
through age 8 years
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Earlier signs of LD may assist in earlier identification
 Risk factors: prematurity and family history of LD
 Early indicators
 Preschool delays in speech and language
 Failure to learn letters and numbers by the end of
kindergarten
 Failure to learn to read simple words by the end of first grade
 **Letter reversal (b and d) in writing/reading can be normal
in children through age 7**
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Successful intervention is more difficult when learning
disabilities are detected late
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For ALL children with school failure or suspected LD, a
focused H&P should be obtained, including
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School history and school day schedule
History of previous evaluations
Developmental milestones
Pregnancy and birth history
Diagnostic medical tests (blood, urine, imaging) are
generally not indicated unless…
 Focal findings on neurologic exam
 Skin findings suggestive of a neurocutaneous syndrome
 PMH suggestive of genetic syndromes or nutritional deficiency
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A hearing and vision screen should be performed!!!
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Physician’s role
 Rule out hearing/vision impairments
 Establish that the learning lag is not due to limited access to
appropriate instruction
 Diagnosis and management of related developmental or
behavioral disorders
 ADHD
 Autism spectrum disorders
 Identify psychosocial components
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Collaboration between the physician and a team of nonmedical professionals (psychologists, educators,
therapists)
If a delay is seen, educational testing is the next step
You have sent a letter to the school requesting a
formal psychoeducational evaluation of a 7 year old
patient having trouble in math. He is failing is math
class, despite increased efforts at home to study. His
grades in all other classes are A/Bs. You suspect a
learning disability. What would you expect to find
upon reviewing the test results?
A. Normal IQ and normal achievement tests.
B. Low IQ and abnormal achievement test in math
only
C. Normal IQ and abnormal achievement test in math
only
D. Normal IQ and abnormal achievement test results
in all domains
E. What’s an achievement test?
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Domain-specific academic and
cognitive testing
 Tests a child’s cognitive abilities,
including the areas of language
processing, memory, attention, and
nonverbal reasoning
 Also assesses specific academic
achievement in core
areas…reading, math, written
expression
 Can take place through the school
district as part of the IEP process
 Private psychological services
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Diagnostic methods
 Academic achievement tests vs. intelligence tests (IQ)
 LD diagnosed when significant discrepancy is demonstrated
between the two scores…low achievement test, normal IQ
 Can lead to false negatives or positives, especially when
testing patients with high or low IQ scores
 RTI: no improvement in cognitive domain after steps
 Assessment
 Remedial instruction
 Assessment
 On IQ tests…as the discrepancy between verbal and
performance IQ scores increases, so does the likelihood of a
learning disability
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The pediatrician should be the patient’s advocate in
ensuring that the initial testing is done and that the
proper services are offered by the school once a
diagnosis is made.
Formal psychoeducational testing should be done by
the school or by a private agency
The results of these tests should guide further
management in the school system
 Educational criteria for placement in special classes are
different in various communities
 Repeating a grade is NOT always the answer!
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Individuals with Disabilities Education Act (IDEA)
 Goals:
 Any individual with a qualifying disability that meets the
unique needs across his/her lifespan (birth to 21 years)
 Free and appropriate education
 Prepares that child for future educational, employment,
and independence opportunities
 “Least restrictive clause”
 Children with learning disorders should be integrated in
mainstream classroom as much as possible
 Tutoring (public or private)
 Pull out of class (“resource room”) for areas of difficulty
 Self-contained class in more severe intellectual disabilities
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Individualized Education Plan (IEP)
 Created for disabled students who by a multidisciplinary
team within the school system
 These students require specialized/individualized instruction
 The team works in collaboration with the family to define
objectives and strategies for both education and therapy
services
 The plan should be re-evaluated/revised annually
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504 Plan
 Allows for reasonable accommodations to be made for all
students with disabilities…not just those requiring a
specialized IEP
 “levels the playing field”
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Patients with learning or developmental disabilities
should be allowed access to special devices
 Laptops in patients with grapho-motor difficulties
 Tests on tape and oral testing in patients with reading
disability
 Use of word processors and spell check in patients with
reading disability or problems with written expression
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A 10-year-old boy has been receiving specialized
educational services in school due to a learning disability.
His parents encourage after-school or sports activities to
promote positive self-esteem. They realize that
academics are a challenge for him, and they express
concerns about his future as an adult.
Of the following, the factor that has been shown to have
the MOST positive effect on prognosis for such a child is
A.
B.
C.
D.
E.
His athletic ability
Father’s level of education
Having two or more siblings
High IQ
Strong family and community support
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Ranges from academic and social success to ongoing
vocational and personal-social problems in adulthood
 Frequent unemployment
 Poverty
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Affected children are at increased risk for
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Poor academic performance
Not completing high school
Behavioral problems and mental health disorders
Poor self-esteem
 Participation in extracurricular activities can help to increase
the patient’s self-esteem
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LD are usually not outgrown…problems persist into
adulthood.
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Children CAN reach high levels of achievement with
proper parent, school, and community support
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Strong family support is the MOST IMPORTANT
prognostic indicator in patients with learning
disabilities
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Children with LD can be gifted at other cognitive and
creative talents that should be nurtured
 Enhance self-esteem
 Provide a sense of accomplishment
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S0me medical problems may present as complaints
about school performance or behavior
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Complex partial seizures
Absence seizures
Tourette syndrome
Visual problems
Mild conductive hearing loss
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Chronic illness and their treatments affect school
performance
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IBD
Asthma, CF, chronic respiratory conditions
Malignancy
Epilepsy
Diabetes
HIV/other infections
Truancy
Drug use
Emotional factors: divorce, death in family, moves, etc.
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The family environment affects school performance and
behavior
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Parental educational status
Socioeconomic class
Culture
Family structures
Emotional disorders (depression, anxiety, etc) can initially
manifest as academic or behavioral problems
Medications may alter school performance
 Antihistamines
 Anticonvulsants (especially phenobarbital)
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Chronic school failure can lead to
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Depression
Anxiety
Substance use and abuse
Reduced motivation for school work
Juvenile delinquency
School drop-out
Other risky behaviors
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Reduced numbers of Purkinje cells in the cerebellum
Abnormal maturation of the forebrain limbic system, including
reduced neuronal size, increased cell-packing density, and
decreased complexity of the neuropil (ie, the complex net of
axonal, dendritic, and glial branching in which the nerve cell is
embedded);
Abnormalities in frontal and temporal lobe cortical
minicolumns, which are more numerous, smaller, and less
compact in their cellular configuration and demonstrate
reduced neuropil space in the periphery
Developmental changes in cell size and number in the nucleus
of the diagonal band of Broca, deep cerebellar nuclei, and
inferior olive
Brainstem abnormalities and neocortical malformations (eg,
heterotopias)
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Red reflex
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Look for bilateral equal color and brightness
Should fill entire pupil
Use ophthalmoscope set to “O” diopters
Defect could indicate: cataract, refractive error,
retinoblastoma
 Any concern  refer to ophthalmology
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Fundoscopic exam
 Requires more cooperation; difficult prior to age 3
 Evaluate anterior structures with plus lenses (black or
green numbers)
 Posterior structures with minus lenses (red numbers)
 Can help diagnose ROP (dilated disc vessels)
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Visual acuity testing
 Varies based on age
 Variations of Snellen chart (with cartoons, etc)
 Difference of two lines between the eyes or vision less
than 20/40 in either eye  refer to ophthalmology
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Corneal reflex testing
 Using a penlight to distinguish strabismus from
pseudostrabismus
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Cover testing
 To identify tropias and phorias
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Congenital (ie TORCH) infections can have long term sequelae
such as visual impairment
Legal blindness: corrected vision of 20/200 or worse in best eye
Approaches to education for visually impaired
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Use touch, smell, and auditory input to orient to environment
Preschool: teach skills that promote independence in daily activities
Emphasize sensory experiences and auditory programs
School-age: child should have an Individualized Educational Plan
Child may participate in regular community-based classroom activities,
focusing on reading, writing, travel needs, and eventually vocational
training and independent living
 Braille is used for nonvisual communication and audio recordings
supplement reading.
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3 most common causes:
 Fetal Alcohol Syndrome
 Can have IQ in normal range
 At risk for neurobehavioral deficits and psychiatric
disorders
 Down Syndrome
 Increased risk for ADHD and ODD
 Fragile X
 Look for X-linked disorder (ie Uncles with “learning
problems”)
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Language fluency, access to educational stimulation,
educational resources, motivation, emotional
functioning
IQ is affected by the child's genetic makeup and the
quality of home and community life
A child of approximately 10 years of age tends to
have little fluctuation in the IQ score.
 An older child may have his or her score compromised
when dealing with a life stress, such as divorce or death of
a loved one.
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Subtest profile scores are more important than
overall test scores on IQ tests (is WISC-IV)
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Early intervention programs
 Goal to have children with developmental problems
meet their full potential
 Meet needs of the child and family
 Promote the child’s development in a natural
environment
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Laws state that services for children with
disabilities must be coordinated, family-based,
culturally competent
Do not need a physicians referral, participation is
not based on income
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Should be familiar with complimentary therapies
Parents are often driven to try nonstandard
treatments
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Striving for a more rapid solution
Frustration with medical/educational systems
Family pressure
Finances
Lack of community programs
Guilt/remorse