Approach to Developmental Delay Flashcards

1
Q

define developmental delay

A

the symptom of not reaching developmental milestones at the expected age

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2
Q

most common cause of motor delay

A

cerebral palsy

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3
Q

most common cause of speech and language delay

A

hearing impairment

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4
Q

most common cause of social delay

A

autism spectrum disorder

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5
Q

global developmental delay

A

2+ areas of delay under the age of 5yo with a specific diagnosis. 2/3 will develop an intellectual disability

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6
Q

learning disability definition

A

average or higher cognitive abilities overall with 1+ specific areas of
deficit

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7
Q

investigations to developmental delay

  • Screening for autism___
  • Brain MRI • EEG

• Laboratory Investigations such as:

A
  • Screening for autism M-CHAT
  • Brain MRI • EEG

• Laboratory Investigations: CBC, glucose, blood gas, urea, creatinine, lytes, AST/ALT, TSH, creatinine kinase, ammonia, lactate, AA, acylcarnitine profile, homocysteine, cooper + ceruloplasmin, ferritin + vitB12

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8
Q

what are the requiremenets of the MCHAT criteria to use in order to diagnose autism?

A

Use the MCHAT criteria

Parent concern 15-22 mo, specialist 20-27 mo.

At 24 months, the MCHAT has good sensitivity and specificity.

Tests joint attention, social relationship and communication.

A fail is >2 critical items or any three.

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9
Q

screening recommendations for children with down syndrome

A

Congenital heart disease: ventral-septal defect.

Thyroid function

Vision

Hearing

Atlanto-occipital instability

Sleep apnea

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10
Q

firs step tp investigate a kid who hasn’t began to say words

A

Ensure that isolated vision and hearing and sensory abilities are normal.

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11
Q

you suspect global developmental delay in a kid. You do a history and PE, audiology report and optho report, and an EEG and MRI but there is nothing conclusive– all sensory faculties are normal. Now what do you do?

A

Tier 1 testing: do a chromosomal microarray, look for fragil X, consider MECP2 in girls

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