Paeds: Special Needs and Syndromes - Week 4

Question 1

List 3 common reasons families present for a paediatric ophthalmic consultation

Answer 1

1. Fail maternal health or school screening
2. Learning or visual concerns (via educators)
3. Medical/syndrome ocular complications (via GP)

Question 2

List 5 genetic abnormalities associated with developmental delay

Answer 2

Down syndrome
Fragile X syndrome
Charge syndrome
Neurofibromatosis
Autism Spectrum Disorder

Question 3

What should you be wary of with charge syndrome patients?

Answer 3

Often will present with retinal colobomas

Question 4

What is a teratogen?

Answer 4

an agent that can affect the growing foetus or embryo (e.g. radiation, maternal infection, chemicals, drugs)

Question 5

List 3 conditions that can be caused by teratogens

Answer 5

Foetal alcohol syndrome
Foetal alcohol effect
Heroin and narcotic withdrawal

Question 6

How can foetal alcohol syndrome (FAS) present? (3)

Answer 6

Growth + mental retardation
Microcephaly (tiny head) and wide set eyes
Behavioural problems - hyperactivity

Question 7

How does Foetal Alcohol effect (FAE) differ from FAS?

Answer 7

Less severe.

Question 8

Do patients with FAE have learning/languaage/social difficulties?

Answer 8

yeah

Question 9

How does the incidence of strabismus and refractive error differ in patients with genetic abnormalities compared to non-disabled?

Answer 9

Higher

Question 10

Briefly describe cerebral palsy: when does it occur and what does it involve?

Answer 10

Perinatal (at birth) condition involving damage/dysfunction to the brain. Kids are usually fine mentally but suffer motor disorder.

Question 11

What are the 2 main risk factors for cerebral palsy?

Answer 11

Low birth weight
Premature birth

(NB: bacterial meningitis has also been documented as a cause. That and trauma)

Question 12

List 5 very common ocular findings in patients with cerebral palsy

Answer 12

Cortical visual impairment
Amblyopia (32%)
Refractive error
Accommodative dysfunction (typically A.I)
Strabismus (70%)

(NB: also nystagmus, poor pursuit/saccade, visual processing disorders – but these less important)

Question 13

Name 2 potential systemic findings in cerebral palsy that could limit communication with the patient

Answer 13

Hearing impairments (common. 5-15% of px)
Mental disabilities

Question 14

Do most children with cerebral palsy have a lag or lead of accommodation?

Answer 14

lag

Question 15

What is the typical refractive error in a child with cerebral palsy?

Answer 15

+1D

Question 16

List 1 risk factor for down syndrome

Answer 16

increased maternal age

Question 17

List 5 important common ocular findings in down syndrome patients

Answer 17

Keratoconus (5-8%)
Strabismus
Accommodative dysfunction (Acc. esotropia/C.E)
High hyperopia
Congenital cataract (4-6%)

(NB: there’s also infantile glaucoma, bleph, chalazion, nystagmus, poor pursuits/saccades, upper lid eversion)

Question 18

List 1 common systemic finding of down syndrome that could limit communication with the patient. What can help manage this problem?

Answer 18

Mental disability. Consider objective testing.

Question 19

True/False: congenital heart defects is a common finding in down syndrome

Answer 19

True

Question 20

How does the incidence of amblyopia in down syndrome patients compare to normal esotropes?

Answer 20

Surprisingly less common in down syndrome patients

Question 21

What is the main driver of acomm/verg problems in down syndrome patients?

Answer 21

Retinal disparity

Question 22

Describe the BV state of Down Syndrome (DS) patients

Answer 22

DS patients have a sensory defect of the accommodation system. This is demonstrated by:

• reduced influence of retinal blur as a cue for accommodation and convergence, and
• High AC/A and low CA/C

This indicates their accommodation is weak (they are under-accommodating) while their vergence is normal

*Sensory mechanism: It is suggested that DS patients have a greater tolerance of retinal blur, allowing under-accommodation to occur without the perception of an out-of focus image

Question 23

The brain of DS patients prefers accurate vergence over accurate accommodation. What does this suggest?

Answer 23

A single image (no diplopia) is preferred to a clear retinal image in these patients

Question 24

The majority of down syndrome children with strabismus have an aquired esotropia.

Name 2 important factors contributing to esotropia in down syndrome patients

Answer 24

Hyperopia

Accommodation weakness

Question 25

How would you broadly describe the level of visual processing skills and verbal+motor skills in autism patients?

Answer 25

Superior visual processing skills (i.e. not delayed)

Delayed verbal and motor skills

Question 26

List 3 sub-classifications of autism spectrum disorder

Answer 26

Asperger’s Syndrome
Pervasive Developmental Disorder
High or low functioning autism

Question 27

What features of autism spectrum disorders should you be aware of when planning your consult? (4)

Answer 27

Easily overwhelmed by sensory info (consider lighting, outside noise, visual distractions, other siblings)
Inability to read body language and interpret other’s perspective
Socially impaired (unable interpret conventions/gestures)
Repeated physical gestures may occur (verbal/motor)

Question 28

What should you evaluate for children with ASD (autism spectrum disorder)? (3)

Answer 28

Refractive error
Accommodation
Near visual skills

(NB: Should really evaluate this for all special needs kids. Especially accommodation. They all have accommodation/vergence issues basically)

Question 29

Define psychogenic vision loss

Answer 29

Any visual impairment that cannot be explained by a pathologic or structural abnormality, and is a diagnosis of exclusion

Question 30

Define Hysteria

Answer 30

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

e.g. streff syndrome

Question 31

What is indicated for a patient with hysterical amblyopia?

Answer 31

Psychological consultation (ie. psychiatrist visit)

Question 32

What is streff/juvenile bilateral functional amblyopia clinically characterised by? (4)

Answer 32

Reduced distance and near VA
Reduced stereopsis
Emmetrope to low hyperope
No change in distance acuity with corrective lenses

Question 33

What is the most efficacious treatment for a patient with streff syndrome?

Answer 33

Low plus lenses, combined with vision training

NB: however there’s no evidence right now to know if it’s a placebo or not

Question 34

List 11 organic dysfunctions that mimic functional vision loss and need to be ruled out. Which is the most common?

Answer 34

Stargardt's macular dystrophy (most common)
Leber's congenital amaurosis
Ocular albinism
Isolated foveal hypoplasia
Rod monochromatism
Retinitis pigmentosa
Retrobulbar optic neuritis
Neoplasms
Stroke/multiple sclerosis
Alzheimer's
Drug toxicity

Just remember stargardt’s and LCA honestly. Key = check posterior eye.

Question 35

How can you manage psychogenic vision loss (in the clinic)? (3)

Answer 35

Comprehensive eye exam incl. DFE, VF, visual pathway imaging, electrophysiological testing
Frequent follow ups
Patient reassurance and co-management with other specialties

Question 36

What’s the most important things to consider when seeing a special needs patient? (2)

Answer 36

Likely have an acc/verg problem (exception functional)

Need multidisciplinary approach