Paeds: Special Needs and Syndromes - Week 4 Flashcards

1
Q

List 3 common reasons families present for a paediatric ophthalmic consultation

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

List 5 genetic abnormalities associated with developmental delay

A

Down syndrome
Fragile X syndrome
Charge syndrome
Neurofibromatosis
Autism Spectrum Disorder

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3
Q

What should you be wary of with charge syndrome patients?

A

Often will present with retinal colobomas

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4
Q

What is a teratogen?

A

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

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5
Q

List 3 conditions that can be caused by teratogens

A

Foetal alcohol syndrome
Foetal alcohol effect
Heroin and narcotic withdrawal

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6
Q

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

A

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

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7
Q

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

A

Less severe.

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8
Q

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

A

yeah

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9
Q

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

A

Higher

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10
Q

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

A

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

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11
Q

What are the 2 main risk factors for cerebral palsy?

A

Low birth weight
Premature birth

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

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12
Q

List 5 very common ocular findings in patients with cerebral palsy

A

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)

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13
Q

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

A

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

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14
Q

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

A

lag

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15
Q

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

A

+1D

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16
Q

List 1 risk factor for down syndrome

A

increased maternal age

17
Q

List 5 important common ocular findings in down syndrome patients

A

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)

18
Q

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

A

Mental disability. Consider objective testing.

19
Q

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

A

True

20
Q

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

A

Surprisingly less common in down syndrome patients

21
Q

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

A

Retinal disparity

22
Q

Describe the BV state of Down Syndrome (DS) patients

A

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

23
Q

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

A

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

24
Q

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

Name 2 important factors contributing to esotropia in down syndrome patients

A

Hyperopia
Accommodation weakness

25
Q

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

A

Superior visual processing skills (i.e. not delayed)
Delayed verbal and motor skills

26
Q

List 3 sub-classifications of autism spectrum disorder

A

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

27
Q

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

A

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)

28
Q

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

A

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)

29
Q

Define psychogenic vision loss

A

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

30
Q

Define Hysteria

A

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

31
Q

What is indicated for a patient with hysterical amblyopia?

A

Psychological consultation (ie. psychiatrist visit)

32
Q

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

A

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

33
Q

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

A

Low plus lenses, combined with vision training

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

34
Q

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

A

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.

35
Q

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

A

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

36
Q

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

A

Likely have an acc/verg problem (exception functional)
Need multidisciplinary approach