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TAS Development ✅ > Global Developmental Impairment And Learning Disability ✅ > Flashcards

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
Q

Which gender are affected by MECP2 duplication?

A

Boys

26
Q

What is found on EEG in MECP2 duplication?

A

Slow background

27
Q

What is found on EEG in cortical dysplasia?

A

Excess fast activity

28
Q

What is found on EEG in Landau-Kleffner syndrome?

A

Temporal spikes and bilateral slow-wave discharges

29
Q

When might genetic testing be useful in global developmental impairment?

A

When diagnosis remains uncertain after history and examination

30
Q

What is looked for on genetic testing in global developmental impairment?

A

Copy number imbalances (loss or gain of genetic material) across the entire genome

31
Q

How has genetic testing abilities improved?

A

Even very small regions of copy number imbalances can now be detected

32
Q

In what % of cases of learning disability and multiple congenital anomly are copy number imbalances found?

A

15-20%

33
Q

How does the severity of a clinical presentation affect the likelihood of a copy imbalance?

A

The more severe the clinical presentation, the more likely a copy imbalance

34
Q

What causes of global developmental impairment may produce abnormalities in urine biochemistry?

A
  • Inborn errors of metabolism

- Mucopolysaccharoidoses

35
Q

What causes of global developmental impairment may lead to abnormalities in urea?

A

Urea cycle defects

36
Q

What causes of global developmental impairment may lead to abnormalities in creatinine kinase?

A

Muscle disorders

37
Q

What causes of global developmental impairment may lead to abnormalities in lactate?

A

Some mitochondrial disorders

38
Q

What causes of global developmental impairment may lead to abnormalities in transferrin isoenzymes?

A

Glycosylation disorders

TAS Development ✅ (21 decks)

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