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TAS Development ✅ > Developmental Regression ✅ > Flashcards

Developmental Regression ✅ Flashcards

1
Q

What should a history of developmental regression prompt?

A

Immediate referral for investigation into underlying aetiology and ensure no treatable cause

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2
Q

Is developmental regression common?

A

No, is rare

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3
Q

What are the more common causes of developmental regression?

A
  • Landau-Kleffner syndrome
  • Leukodystrophy
  • MECP2 duplication syndrome
  • Rett syndrome
  • Metabolic or mitochondrial disorders
  • Dravet syndrome
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4
Q

What is Landau-Kleffner syndrome?

A

A rare epileptiform disorder

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5
Q

What is Landau-Kleffner syndrome characterised by?

A
  • Developmental issues
  • Marked regression of language skills
  • Abnormal EEG
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6
Q

When does Landau-Kleffner syndrome present?

A

5-7 years

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7
Q

How does the incidence of Landau-Kleffner syndrome compare in boys and girls?

A

It affects twice as many boys

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8
Q

What % of children with Landau-Kleffner syndrome have epileptic seizures?

A

70%

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9
Q

What EEG pattern develops in Landau-Kleffner syndrome?

A

Electrographic status epilepticus of slow-wave sleep

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10
Q

What % of children with Landau-Kleffner syndrome develop electrographic status epilepticus of slow-wave sleep?

A

85%

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11
Q

What causes Landau-Kleffner syndrome?

A

Unknown, many theories - genetic, infective, inflammatory

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12
Q

What is often helpful in the treatment of Landau-Kleffner syndrome?

A

Oral steroids

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13
Q

What is the prognosis of Landau-Kleffner syndrome?

A

Variable, and encompasses a spectrum of outcomes, but most children have ongoing moderate language deficits

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14
Q

What is leukodystrophy?

A

A group of conditions characterised by progressive degeneration of the white matter of the brain

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15
Q

What causes leukodystrophy?

A

Abnormal growth or development of the myelin sheath

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16
Q

How is leukodystrophy acquired?

A

Genetic

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17
Q

How many substances is myelin made up of?

A

At least 10

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18
Q

What causes degeneration of the white matter of the brain in leukodystrophy?

A

A genetic defect alters the way the substances making up myelin are metabolised (enzyme action) or produced

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19
Q

How does leukodystrophy present?

A

Initially developmental milestones are attained as expected, but then children show progressive regression

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20
Q

In what areas do children show regression in leukodystrophy?

A
  • Gross motor skills
  • Speech
  • Ability to eat
  • Vision
  • Hearing
  • Behaviour
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21
Q

Give 6 examples of leukodystrophies?

A
  • Metachromatic leukodystrophy
  • Adenoleukodystrophy
  • Krabbe disease
  • Pelizaeus-Merzbacher disease
  • Canavan disease
  • Alexander disease
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22
Q

What is metachromatic leukodystrophy caused by?

A

Deficiency of arylsulphatase enzyme

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23
Q

What is adenoleukodystrophy caused by?

A

Disorder of perioxisomal fatty acid beta oxidation and accumulation of very long chain fatty acids

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24
Q

What is Krabbe disease caused by?

A

Deficiency of galactocerebrosidase enzyme

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25
Q

What is Pelizaeus-Merzbacher disease caused by?

A

Defect in gene coding for myelin proteolipid protein 1

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26
Q

What is Canavan disease caused by?

A

Deficiency of aspartoacylase enzyme

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27
Q

What is Alexander disease caused by?

A

Defect in gene coding for glial fibrillary acidic protein

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28
Q

What is prognosis for children with leukodystrophies?

A

In general is poor, but varies between different types

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29
Q

How are children with leukodystrophies managed?

A

Directed towards symptomatic and supportive care

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30
Q

What are clinical trials looking into as treatments for leukodystrophies?

A
  • Gene replacement
  • Bone marrow transplantation
  • Enzyme replacement
31
Q

Which gender do MECP2 duplication syndromes affect?

A

Almost exclusively males

32
Q

When does MECP2 duplication syndrome present?

A

Many from infancy, some later

33
Q

How do infants with MECP2 duplication syndrome present?

A

Disordered or impaired development

34
Q

How do older children with MECP2 duplication syndrome present?

A

Developmental regression and seizures

35
Q

What causes MECP2 duplication syndrome?

A

Duplication of genetic material on the long arm of the X chormosome

36
Q

Are genes other than MECP2 involved in MECP2 duplication syndrome?

A

They can be

37
Q

How is MECP2 duplication syndrome managed?

A

Symptomatic, based on clinical manifestations of the syndrome

38
Q

What is Rett syndrome a disorder off?

A

Grey matter of the brain

39
Q

Which gender does Rett syndrome affect?

A

Mostly girls

40
Q

How does Rett syndrome present?

A

Developmental regression after a period of static developmental process

41
Q

When does Rett syndrome present?

A

6-18 months

42
Q

What is Rett syndrome caused by?

A

Mutations on MECP2 gene located on chromosome X

43
Q

What can resemble Rett syndrome?

A

Mutations on other genes - CDKL5 or FOXG1

44
Q

What are the clinical features of Rett syndrome?

A
  • Small hands and feet
  • Deceleration in rate of head growth
  • Repetitive stereotyped midline hand movements, such as hand wringing
  • Incrased incidence of GI disorders
  • Seizures
  • Loss of language skills and become non-verbal
45
Q

What can the deceleration in head growth in Rett syndrome lead to?

A

Microcephaly

46
Q

What % of children with Rett syndrome have seizures?

A

80%

47
Q

What % of girls with Rett syndrome do not walk?

A

50%

48
Q

What are clinical trials looking into as a treatment for Rett syndrome?

A

Restoration of MECP2 gene function

49
Q

What is the prognosis of males with MECP2 mutations?

A

Usually die within first 2 years of life

50
Q

What do boys with MECP2 mutations usually die from?

A

Complications of severe encephalopathy

51
Q

What is the prognosis of girls with Rett syndrome?

A

Can have relatively normal life expectancy, but tends to be dependent upon complications of the disorder

52
Q

When do inborn errors of metabolism cause little in the way of disability?

A

If they are managed effectively and the damaging effects of accumulating poisonous metabolites is counteracted

53
Q

Give an example of a inborn error of metabolism that can be managed effectively

A

Glutaric aciduria type 1

54
Q

When should a diagnosis of glutaric aciduria type 1 be suspected?

A

In children with macrocephaly

55
Q

Why should a diagnosis of glutaric aciduria type 1 be suspected in any child with macrocephaly?

A

A large head circumference can be one of the earliest signs

56
Q

What causes Tay-Sachs disease?

A

Deficiency of the enzyme hexosaminidase A

57
Q

What is the heritence pattern of Tay-Sachs?

A

Autosomal recessive

58
Q

What does the enzyme deficiency in Tay-Sachs lead to?

A

Accumulation of gangliosides in the neurons and cell death

59
Q

What is the problem when inborn errors of metaboilsm present as developmental regression?

A

Once the child has reached the stage of developmental regression, a degree of damage to the developing brain will have already occured

60
Q

What is the focus of management of inborn errors of metabolism when presenting at the point of developmental regression?

A

Identify the cause to minimise further damage

61
Q

Who should inborn errors of metabolism be suspected in?

A
  • Those with family history
  • History of neonatal encephalopathy
  • Vomiting
  • Unusual smell of urine
  • When several symptoms involved with acute symptoms
62
Q

Why can it be hard to diagnose inborn errors of metabolism?

A

Present in a wide variety of ways

63
Q

What is the implication of it being difficult to diagnose inborn errors of metabolism?

A

Should have low threshold for screening for these disorders, particularly in children with unusual presentations of illness or developmental regression

64
Q

What is Dravet syndrome also known as?

A

Severe myoclonic epilepsy of infancy (SMEI)

65
Q

What is the most common mutation in Dravet syndrome?

A

SCN1A

66
Q

What % of children with Dravet syndrome have a mutation in SCN1A?

A

80%

67
Q

What does the SCN1A gene do?

A

Codes for proteins that regulate the function of sodium channels

68
Q

When does Dravet syndrome present?

A

Usually in the first year of life

69
Q

How does Dravet syndrome present?

A

Intractable, severe epileptic seizures

70
Q

What may the seizures in Dravet syndrome initially manifest as?

A

Atypical febrile seizures

71
Q

What course does development take in Dravet syndrome?

A

Typical course prior to onset of seizures, then period of regression

72
Q

What does the degree of eventual developmental impairment on Dravet syndrome depend on?

A

Tends to correlate with frequency of seizures

73
Q

How severe is Dravet syndrome in most individuals?

A

Most affected individuals have severe learning disabilities and difficult to treat epilepsy

TAS Development ✅ (21 decks)

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