BVP - Special Needs and Syndromes in Children - Week 4

Question 1

List three common reasons families present for a paediatric ophthalmic consultation.

Answer 1

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

Question 2

List 5 genetic abnormalities associated with developmental delays.

Answer 2

Down syndrome
Fragile X syndrome
CHARGE syndrome
Neurofibromatosis
Autism spectrum disorder

Question 3

Define teratogen.

Answer 3

An agent that can affect the growing foetus and embryo

Question 4

Describe foetal alcohol syndrome. List 7 signs and symptoms in the child.

Answer 4

An alcoholic mother during pregnancy
Growth retardation
Mental retardation
Microcephaly
Wide set, slanted eyes
Thin upper lip
Hyperactivity
Difficulty relating to others

Question 5

Describe foetal alcohol effect, what it is caused by, its severity relative to foetal alcohol syndrome, and 8 signs/symptoms.

Answer 5

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

Question 6

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.

Answer 6

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

Question 7

What perinatal factor can result in disability?

Answer 7

Cerebral palsy

Question 8

List two idiopathic conditions that can result in a paediatric disability.

Answer 8

Juvenile idiopathic arthritis
Juvenile diabetes

Question 9

List a psychogenic condition that can result in a paediatric disability.

Answer 9

Hysterical amblyopia/Streff syndrome

Question 10

Describe what is required for a hysterical amblyopia/streff syndrome diagnosis (5).

Answer 10

No evidence of pathology, refractive, or amblyogenic factors
Co-existing emotional, psychological disturbance

Question 11

What is the prevalence of refractive error, strabismus, and other ocular conditions in those with paediatric disabilities vs non-disabled?

Answer 11

Much high, with refractive error being ~50%

Question 12

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.

Answer 12

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

Question 13

List the two major consequences of cerebral palsy.

Answer 13

Mainyl motor disorders, such as movement and posture

Question 14

List 6 common systemic signs of cerebral palsy.

Answer 14

Hearing impairment
Seizures
Epilepsy
Hydrocephalus
Repiratory problems
Mental and motor delays

Question 15

List 8 common ocular findings for cerebral palsy. List the four most important first.

Answer 15

Cortical visual impairment
Amblyopia
Refractive error
Accommodative dysfunction
Strabismus
Deficient pursuit/saccades
Nystagmus
Visual processing disorders

Question 16

What percentage of cerebral palsy patients have amblyopia? What about strabismus?

Answer 16

Amblyopia - ~32%
Strabismus - up to 70%

Question 17

What is the mean refractive error of children with cerebral palsy vs normal? What is the spread like vs normal?

Answer 17

Cerebral palsy - +1.00D
Normal - +0.75D
Cerebral palsy spread is much more flat, higher standard deviation

Question 18

What can be said of the accommodation of most children with cerebral palsy? How does this affect the consult?

Answer 18

Most have a lag of accommodation
Refractive error needs to be corrected accordingly
Binocular and accommodative tests are therefore very important

Question 19

What is the cause of downs syndrome, how many organs does it affect, and what is a risk factor (1)?

Answer 19

Caused by an extra chromosome 21 (trisomy 21)
Results in almost every organ being affected
Increased maternal age is the only known risk factor

Question 20

List 8 physical signs of downs syndrome (appearances).

Answer 20

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

Question 21

List 5 common systemic findings for downs syndrome.

Answer 21

Mental/intellectual disability
Seizures
Autism
Premature ageing
Congenital heart defects

Question 22

List 12 common systemic findings for downs syndrome. List the three most important first.

Answer 22

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

Question 23

What is the most common presenting strabismus in downs syndrome? what is it due to?

Answer 23

Accommodative esotropia generally due to high hyperopia

Question 24

Compare the prevalence of amblyopia with downs syndrome relative to esotropes in general populations.

Answer 24

Amblyopia with downs syndrome is less common relative to esotropes in the general population

Question 25

What plays a significant role in determining how to approach a consult with a downs syndrome patient?

Answer 25

The patients mental capacity - how much to rely on subjective vs objective testing

Question 26

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?

Answer 26

Retinal disparity Diminished retinal blur cues to accommodation and vergence in DS A sensory deficit of the accommodative system is present in DS

Question 27

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?

Answer 27

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

Question 28

Describe what is meant by autism spectrum disorder.

Answer 28

A spectrum of disorders in a heterogenous group from severe verbal disability and intellectual delay to a very high intellectual capacity

Question 29

List three subclassifications of autism spectrum disorder.

Answer 29

Aspergers syndrome Pervasive developmental disorder High or low functioning autism

Question 30

What is the visual processing skills of those with autism often like? What about verbal/motor skills?

Answer 30

Often have superior visual processing skills but delayed verbal and motor skills

Question 31

What is the mechanism of autism spectrum disorder? What do they all have difficulty with?

Answer 31

Oversensitive to sensory stimulation - all have some difficulty with filtering it and coping

Question 32

Describe the social interactions of individuals with autism.

Answer 32

Socially impaired, often unable to interpret gestures or common social conventions/protocols

Question 33

Describe how individuals with autism read body language and interpret another's view/perspective.

Answer 33

Unable to read body language and interpret another's view/perspective

Question 34

Is autism a lifelong condition?

Answer 34

Yes

Question 35

Are individuals with autism variable in their perception of the world?

Answer 35

Yes, very

Question 36

What should all consults involving patients with autism evaluate (3)?

Answer 36

Evaluation of refractive error, accommodation, and near visual skills

Question 37

List four other names of psychogenic vision loss.

Answer 37

Malingering (not popular, dont use publicly) Functional vision loss Streffs syndrome Hysterical amblyopia

Question 38

How do those with psychogenic vision loss commonly present? what is this condition often associated with?

Answer 38

Witha near or distance visual disturbance usually associated with psychological/emotional incident/event or predisposition

Question 39

What is the most common demographic for psychogenic vision loss?

Answer 39

Females aged 7-12 -streffs syndrome

Question 40

Describe functional/hysterical vision loss. What kind of diagnosis is it?

Answer 40

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

Question 41

Describe hysteria. What concept is it based on?

Answer 41

A conversion disorder, based on the Freudian concept that intolerable psychological conflict leads to the conversion of distress into physical symptoms

Question 42

What does psychogenic vision loss need to be distinguished from?

Answer 42

Needs to be distinguished from malingering: the purposeful feigning of symptoms for personal gain

Question 43

What is the predominant factor for psychogenic vision loss?

Answer 43

Stress

Question 44

What referral is indicated for a patient with hysterical amblyopia?

Answer 44

Psychological consultation

Question 45

What is streffs syndrome often the result of? give examples.

Answer 45

Often the result of emotional stress in the childs environment such as divorce, neglect, low self-esteem, etc

Question 46

What is streffs syndrome characterised by (4)?

Answer 46

Reduced D/N VA Reduced stereopsis Emmetropia to low hyperopic refractive status No change in D VA with corrective lenses

Question 47

What do some believe is the cause of streffs syndrome? How does this differ to hysterical amblyopia?

Answer 47

An autonomic nervous system disorder caused by an accommodative response to close work Hysterical amblyopia has primary psychological aetiology

Question 48

What is the most efficacious treatment course for those with streffs syndrome (2)?

Answer 48

Application of low power plus lens combined with vision training

Question 49

List 12 conditions (organic dysfunctions) that mimic functional visiond loss.

Answer 49

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

Question 50

List 8 components of a psychogenic vision loss consult.

Answer 50

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