Global Developmental Impairment And Learning Disability ✅ Flashcards

1
Q

When are children described as having global developmental impairment?

A

When they show disordered development in two or more areas of gross motor, fine motor/vision, hearing/speech, or social development

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2
Q

What is the problem with term ‘global’ in when describing developmental delay?

A

It can be an unhelpful term, and is good practice to describe affected domains directly

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3
Q

What is the problem with term ‘delay’ when describing developmental impairment?

A

It may suggest development will catch up, which is often not the case

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4
Q

What can be used to describe development impairment?

A

A developmental quotient

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5
Q

What is a developmental quotient?

A

Developmental age as a percentage of chronological age

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6
Q

What is the developmental quotiet broadly predictive of?

A

The degree of learning disability

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7
Q

When is the term learning disability more commonly used?

A

Once a child reaches school age

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8
Q

How does WHO define learning disability?

A

A state of arrested or incomplete development of mind

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9
Q

What is a person with a general learning disability said to have?

A

Significant impairment of intellectual, adaptive, and social functioning

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10
Q

Can a learning disability be acquired in adulthood?

A

No, must have been evident from childhood

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11
Q

What is used to define the severity of learning disability?

A

IQ

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12
Q

What IQ is classified as mild learning disability?

A

50-70

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13
Q

What IQ is classified as moderate learning disability?

A

35-49

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14
Q

What IQ is classified as severe learning disability?

A

20-34

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15
Q

What IQ is classified as profound learning disability?

A

<20

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16
Q

Why might investigation into underlying cause of global developmental impairment be useful?

A
  • Provide information to allow genetic counselling for future pregnancies
  • Exclude treatable disorders
  • Highlight need for other health screening
17
Q

Give an example of when discovering the cause for global developmental impairment might highlight a need for other health screening

A

Cardiac abnormalities in certain chromosomal disorders

18
Q

What do investigations depend on in global developmental impairment?

A

Individual history and examination

19
Q

What investigations may be done in global developmental delay?

A
  • MRI scan of brain
  • EEG
  • Microarray-CGH genetic testing
  • Urine biochemistry
  • Thyroid function tests
  • Urea
  • Creatinine kinase
  • Ammonia
  • Lactate
  • Plasma amino acids
  • Transferrin isoenzymes
  • Measuring neurotransmitters in CSF
20
Q

What might be found on MRI scan of the brain in global developmental impairment?

A
  • Hypomyelination

- Structural anomalies

21
Q

What is the limitation of EEG in global developmental impairment?

A

Unlikely to be diagnostic in itself

22
Q

When might EEG be useful in global developmental impairment?

A

Supportive evidence for suspected diagnosis when confirmatory testing has so far been negative or not available

23
Q

Give 5 conditions causing global developmental impairment that EEG might be useful in?

A
  • Epileptic encephalopathies
  • Angelman syndrome
  • MECP2 dupliation
  • Cortical dysplasia
  • Landau-Kleffner syndrome
24
Q

What is found on EEG in Angelman syndrome?

A

Posterior high voltage 3-4 second sharps with smaller spikes on eye closure

25
Which gender are affected by MECP2 duplication?
Boys
26
What is found on EEG in MECP2 duplication?
Slow background
27
What is found on EEG in cortical dysplasia?
Excess fast activity
28
What is found on EEG in Landau-Kleffner syndrome?
Temporal spikes and bilateral slow-wave discharges
29
When might genetic testing be useful in global developmental impairment?
When diagnosis remains uncertain after history and examination
30
What is looked for on genetic testing in global developmental impairment?
Copy number imbalances (loss or gain of genetic material) across the entire genome
31
How has genetic testing abilities improved?
Even very small regions of copy number imbalances can now be detected
32
In what % of cases of learning disability and multiple congenital anomly are copy number imbalances found?
15-20%
33
How does the severity of a clinical presentation affect the likelihood of a copy imbalance?
The more severe the clinical presentation, the more likely a copy imbalance
34
What causes of global developmental impairment may produce abnormalities in urine biochemistry?
- Inborn errors of metabolism | - Mucopolysaccharoidoses
35
What causes of global developmental impairment may lead to abnormalities in urea?
Urea cycle defects
36
What causes of global developmental impairment may lead to abnormalities in creatinine kinase?
Muscle disorders
37
What causes of global developmental impairment may lead to abnormalities in lactate?
Some mitochondrial disorders
38
What causes of global developmental impairment may lead to abnormalities in transferrin isoenzymes?
Glycosylation disorders