BVP - Special Needs and Syndromes in Children - Week 4 Flashcards
List three common reasons families present for a paediatric ophthalmic consultation.
Fail a maternal or school health screening
Teacher or education professional may refer the child with learning/visual outcomes
Childs GP/paediatrician may refer for ophthalmic evaluation
List 5 genetic abnormalities associated with developmental delays.
Down syndrome
Fragile X syndrome
CHARGE syndrome
Neurofibromatosis
Autism spectrum disorder
Define teratogen.
An agent that can affect the growing foetus and embryo
Describe foetal alcohol syndrome. List 7 signs and symptoms in the child.
An alcoholic mother during pregnancy
Growth retardation
Mental retardation
Microcephaly
Wide set, slanted eyes
Thin upper lip
Hyperactivity
Difficulty relating to others
Describe foetal alcohol effect, what it is caused by, its severity relative to foetal alcohol syndrome, and 8 signs/symptoms.
Less severe than foetal alcohol syndrome, it is caused by binge drinking and is associated with:
Mild growth retardation
Mild mental retardation
Learning difficulty
Language difficulty
Attention deficits
Sleep problems
Poor socialisation
Poor communication skills
What happens to infants born to mothers using heroin and narcotics during pregnancy? From what else may problems occur? List four common signs and symptoms.
Infants suffer from withdrawal symptoms
Problems may also result from poor nutrition
Common signs and symptoms include:
Sleep disturbances
Delayed sensori-motor development
Visual problems
Auditory problems
What perinatal factor can result in disability?
Cerebral palsy
List two idiopathic conditions that can result in a paediatric disability.
Juvenile idiopathic arthritis
Juvenile diabetes
List a psychogenic condition that can result in a paediatric disability.
Hysterical amblyopia/Streff syndrome
Describe what is required for a hysterical amblyopia/streff syndrome diagnosis (5).
No evidence of pathology, refractive, or amblyogenic factors
Co-existing emotional, psychological disturbance
What is the prevalence of refractive error, strabismus, and other ocular conditions in those with paediatric disabilities vs non-disabled?
Much high, with refractive error being ~50%
Describe cerebral palsy, what it is caused by, and two risk factors. Is it possible to acquire it, or is it only something you are born with? Explain. Describe the association it has with bacterial meningitis.
It is a developmental disability that occurs perinatally from damage or dysfunction to the developing brain
Exact causes are unknown
Risk factors include low birth weight and prematurity
There is some evidence it can be acquired through brain damage in the first few years of life from trauma (drowning/child abuse most common)
Bacterial meningitis has been documented to cause it
List the two major consequences of cerebral palsy.
Mainyl motor disorders, such as movement and posture
List 6 common systemic signs of cerebral palsy.
Hearing impairment
Seizures
Epilepsy
Hydrocephalus
Repiratory problems
Mental and motor delays
List 8 common ocular findings for cerebral palsy. List the four most important first.
Cortical visual impairment
Amblyopia
Refractive error
Accommodative dysfunction
Strabismus
Deficient pursuit/saccades
Nystagmus
Visual processing disorders
What percentage of cerebral palsy patients have amblyopia? What about strabismus?
Amblyopia - ~32%
Strabismus - up to 70%
What is the mean refractive error of children with cerebral palsy vs normal? What is the spread like vs normal?
Cerebral palsy - +1.00D
Normal - +0.75D
Cerebral palsy spread is much more flat, higher standard deviation
What can be said of the accommodation of most children with cerebral palsy? How does this affect the consult?
Most have a lag of accommodation
Refractive error needs to be corrected accordingly
Binocular and accommodative tests are therefore very important
What is the cause of downs syndrome, how many organs does it affect, and what is a risk factor (1)?
Caused by an extra chromosome 21 (trisomy 21)
Results in almost every organ being affected
Increased maternal age is the only known risk factor
List 8 physical signs of downs syndrome (appearances).
Flat facial profile
Simian crease on the psalms
Flat occiput
Gap between 1st and 2nd toe
Protruding tongue
Flat nasal bridge
Upward slanting eyes
Epicanthic fold
List 5 common systemic findings for downs syndrome.
Mental/intellectual disability
Seizures
Autism
Premature ageing
Congenital heart defects
List 12 common systemic findings for downs syndrome. List the three most important first.
Keratoconus
Strabismus
Accommodative dysfunction
Epicanthus and carrow interpupillary distance
Blepharitis
Chalazion
Congential eversion of upper lid
Cataract
Infantile glaucoma
High refractive error
Deficit pursuit/saccades
Nystagmus
What is the most common presenting strabismus in downs syndrome? what is it due to?
Accommodative esotropia generally due to high hyperopia
Compare the prevalence of amblyopia with downs syndrome relative to esotropes in general populations.
Amblyopia with downs syndrome is less common relative to esotropes in the general population
What plays a significant role in determining how to approach a consult with a downs syndrome patient?
The patients mental capacity - how much to rely on subjective vs objective testing
What is the main driver to accommodative and vergence systems in downs syndrome? What is it like in downs syndrome vs normal and what effect does this have?
Retinal disparity
Diminished retinal blur cues to accommodation and vergence in DS
A sensory deficit of the accommodative system is present in DS
Describe the relationship between accommodation and vergence in those with downs syndrome including two ratios that give us more information about this. What happens to the system’s interaction with each other as a result?
High AC/A and low CA/C ratios in combination with disparity-driven responses suggest an abnormal relationship between accommodation and vergence systems - accurate vergence is prioritised at the expense of accurate accommodation
Describe what is meant by autism spectrum disorder.
A spectrum of disorders in a heterogenous group from severe verbal disability and intellectual delay to a very high intellectual capacity
List three subclassifications of autism spectrum disorder.
Aspergers syndrome
Pervasive developmental disorder
High or low functioning autism
What is the visual processing skills of those with autism often like? What about verbal/motor skills?
Often have superior visual processing skills but delayed verbal and motor skills
What is the mechanism of autism spectrum disorder? What do they all have difficulty with?
Oversensitive to sensory stimulation - all have some difficulty with filtering it and coping
Describe the social interactions of individuals with autism.
Socially impaired, often unable to interpret gestures or common social conventions/protocols
Describe how individuals with autism read body language and interpret another’s view/perspective.
Unable to read body language and interpret another’s view/perspective
Is autism a lifelong condition?
Yes
Are individuals with autism variable in their perception of the world?
Yes, very
What should all consults involving patients with autism evaluate (3)?
Evaluation of refractive error, accommodation, and near visual skills
List four other names of psychogenic vision loss.
Malingering (not popular, dont use publicly)
Functional vision loss
Streffs syndrome
Hysterical amblyopia
How do those with psychogenic vision loss commonly present? what is this condition often associated with?
Witha near or distance visual disturbance usually associated with psychological/emotional incident/event or predisposition
What is the most common demographic for psychogenic vision loss?
Females aged 7-12
-streffs syndrome
Describe functional/hysterical vision loss. What kind of diagnosis is it?
Functional, or non-organic, vision loss is any visual impairment that cannot be explained by a pathologic or structural abnormality, and is a diagnosis of exclusion
Describe hysteria. What concept is it based on?
A conversion disorder, based on the Freudian concept that intolerable psychological conflict leads to the conversion of distress into physical symptoms
What does psychogenic vision loss need to be distinguished from?
Needs to be distinguished from malingering: the purposeful feigning of symptoms for personal gain
What is the predominant factor for psychogenic vision loss?
Stress
What referral is indicated for a patient with hysterical amblyopia?
Psychological consultation
What is streffs syndrome often the result of? give examples.
Often the result of emotional stress in the childs environment such as divorce, neglect, low self-esteem, etc
What is streffs syndrome characterised by (4)?
Reduced D/N VA
Reduced stereopsis
Emmetropia to low hyperopic refractive status
No change in D VA with corrective lenses
What do some believe is the cause of streffs syndrome? How does this differ to hysterical amblyopia?
An autonomic nervous system disorder caused by an accommodative response to close work
Hysterical amblyopia has primary psychological aetiology
What is the most efficacious treatment course for those with streffs syndrome (2)?
Application of low power plus lens combined with vision training
List 12 conditions (organic dysfunctions) that mimic functional visiond loss.
Stargarts macular dystrophy
Lebers congenital amaurosis
Albinism/ocular albinism
Isolated foveal hypoplasia
Rod monochromatism
Retinitis pigmentosa
Retrobulbar optic neuritis
Neoplasms
Stroke
Multiple sclerosis
Alzheimers
Drug toxicity
List 8 components of a psychogenic vision loss consult.
Comprehensive eye exam
Creative chairside testing
Dilated fundus exam
Visual fields
Imaging the visual pathway
Electrophysiologic testing
Exclusion of any organic dysfuncitons mimicking functional vision loss
Patient reassurance, frequent followups, and referrals to other specialties
