Paeds: Special Needs and Syndromes - Week 4 Flashcards
List 3 common reasons families present for a paediatric ophthalmic consultation
- Fail maternal health or school screening
- Learning or visual concerns (via educators)
- Medical/syndrome ocular complications (via GP)
List 5 genetic abnormalities associated with developmental delay
Down syndrome Fragile X syndrome Charge syndrome Neurofibromatosis Autism Spectrum Disorder
What should you be wary of with charge syndrome patients?
Often will present with retinal colobomas
What is a teratogen?
an agent that can affect the growing foetus or embryo (e.g. radiation, maternal infection, chemicals, drugs)
List 3 conditions that can be caused by teratogens
Foetal alcohol syndrome
Foetal alcohol effect
Heroin and narcotic withdrawal
How can foetal alcohol syndrome (FAS) present? (3)
Growth + mental retardation
Microcephaly (tiny head) and wide set eyes
Behavioural problems - hyperactivity
How does Foetal Alcohol effect (FAE) differ from FAS?
Less severe.
Do patients with FAE have learning/languaage/social difficulties?
yeah
How does the incidence of strabismus and refractive error differ in patients with genetic abnormalities compared to non-disabled?
Higher
Briefly describe cerebral palsy: when does it occur and what does it involve?
Perinatal (at birth) condition involving damage/dysfunction to the brain. Kids are usually fine mentally but suffer motor disorder.
What are the 2 main risk factors for cerebral palsy?
Low birth weight
Premature birth
(NB: bacterial meningitis has also been documented as a cause. That and trauma)
List 5 very common ocular findings in patients with cerebral palsy
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)
Name 2 potential systemic findings in cerebral palsy that could limit communication with the patient
Hearing impairments (common. 5-15% of px) Mental disabilities
Do most children with cerebral palsy have a lag or lead of accommodation?
lag
What is the typical refractive error in a child with cerebral palsy?
+1D
List 1 risk factor for down syndrome
increased maternal age
List 5 important common ocular findings in down syndrome patients
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)
List 1 common systemic finding of down syndrome that could limit communication with the patient. What can help manage this problem?
Mental disability. Consider objective testing.
True/False: congenital heart defects is a common finding in down syndrome
True
How does the incidence of amblyopia in down syndrome patients compare to normal esotropes?
Surprisingly less common in down syndrome patients
What is the main driver of acomm/verg problems in down syndrome patients?
Retinal disparity
Describe the BV state of Down Syndrome (DS) patients
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
The brain of DS patients prefers accurate vergence over accurate accommodation. What does this suggest?
A single image (no diplopia) is preferred to a clear retinal image in these patients
The majority of down syndrome children with strabismus have an aquired esotropia.
Name 2 important factors contributing to esotropia in down syndrome patients
Hyperopia
Accommodation weakness
