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Neurology > CD: CDC and AS > Flashcards

CD: CDC and AS Flashcards

1
Q

What is Cri-du-chat syndrome?

A

Chromsomal condition resulting from missing piece of chromosome 5

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2
Q

What is the prevalence of Cri-du-chat syndrome?

A

1 in 20,000 - 50,000 newborns

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3
Q

Summarise the aetiology of Cri-du-chat syndrome (3)

A
  1. Spontaneous deletion during embryo formation or development
  2. Deletion of the end of the short (p) arm of chromosome 5 (5p-)
  3. 10% inherit abnormality from unaffected parent
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4
Q

How does the aetiology vary in Cri-du-chat syndrome? (3)

A
  1. Symptoms are probably related to the loss of multiple genes on the short arm of chromosome 5
  2. Size of deletion varies between individuals
  3. Larger deletions = more severe intellectual disability and developmental delay
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5
Q

What gene is associated with severe intellectual disability?

A

CTNND2 loss

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6
Q

Explain the inheritance pattern of Cri-du-chat syndrome (3)

A
  1. Unaffected parent carries a chromosomal rearrangement called a balanced translocation
  2. Becomes unbalanced as passed to next generation
  3. Children are missing genetic material from the short arm of chromosome 5
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7
Q

Summarise the impact of Cri-du-chat syndrome (6)

A
  1. High pitched cry
  2. Intellectual disability
  3. Distinctive facial features
  4. Physical development
  5. Health difficulties
  6. Behavioural problems
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8
Q

What are 4 distinctive facial features of Cri-du-chat syndrome?

A
  1. Widely set eyes (hypertelorism)
  2. Low-set ears
  3. Small jaw
  4. Rounded face
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9
Q

What are 5 physical development characteristics in Cri-du-chat syndrome?

A
  1. Delayed development
  2. Small head size (microcephaly)
  3. Low birth weight
  4. Hypotonia in infancy
  5. Some born with heart defect
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10
Q

What is the variation in intellectual impairment in Cri-du-chat syndrome?

A
  1. Most have moderate-severe learning difficulty

2. Some will have mild

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11
Q

What are 7 associated health difficulties in Cri-du-chat syndrome?

A
  1. Scoliosis
  2. Constipation
  3. Reflux
  4. Respiratory tract infections
  5. Feeding difficulties
  6. Flat footedness
  7. Renal and heart problems
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12
Q

What are 3 behavioural problems found in Cri-du-chat syndrome?

A
  1. Hyperactivity
  2. Sleep difficulties
  3. ASD (30% meet cut off)
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13
Q

How is Cri-du-chat syndrome diagnosed?

A
  1. Evaluation of medical history and symptoms

2. Genetic testing

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14
Q

What is the prognosis of Cri-du-chat syndrome? (4)

A
  1. Most have normal life expectancy
  2. After 1st year = mortality and morbidity rates are low
  3. Serious organ defects may have worse prognosis
  4. Older children usually able to move, communicate verbally/sign and independent in self-care skills
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15
Q

What is the treatment of Cri-du-chat syndrome?

A

Early intervention in physio, SLT, behavioural modification and special education

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16
Q

What is Angelman syndrome?

A
  1. Complex genetic disorder that primarily affects the nervous system
  2. Causes severe physical and intellectual disability
17
Q

What is the prevalence of Angelman syndrome?

A

1/12,000 - 20,000

18
Q

Summarise the impacts of Angelman syndrome (6)

A
  1. Delayed development
  2. Intellectual disability
  3. Ataxia
  4. Seizures
  5. Happy, excitable personality
  6. Physical appearance
19
Q

Describe the physical appearance of Angelman syndrome (4)

A
  1. “Coarse” facial description
  2. Unusually fair skin and light-coloured hair
  3. Small head size
  4. Crossed eyes (strabismus)
20
Q

What are behavioural characteristics of Angelman syndrome? (5)

A
  1. Hyperactivity
  2. Short attention span
  3. Fascination with water
  4. Sleep difficulties
  5. Frequent laughing, smiling and hand-flapping
21
Q

What is the “coarse” facial description of Angelman syndrome? (3)

A
  1. Lack usual fine and sharp facial appearance
  2. Rounded and heavy appearance with thickened skin
  3. Subcutaneous or bony tissues
22
Q

Summarise the aetiology of Angelman syndrome (3)

A
  1. Spontaneous genetic changes during formation of reproductive cells or early embryonic development
  2. Unknown in 10-15%
  3. Small percentage: paternal uniparental disomy
23
Q

What is parternal uniparent disomy in Angelman syndrome?

A

Inherits 2 copies of chromosome 15 from father rather than one from each parent

24
Q

What causes light-coloured hair and fairskin in Angelman syndrome?

A

Loss of gene OCA2 located on chromosome 15

25
Q

What mutations cause Angelman syndrome? (2)

A
  1. 70% due to deletion in maternal chromosome 15 containing UBE3A gene
  2. 11% caused by mutation in maternal copy of UBE3A gene
26
Q

What is the inheritance pattern of Angelman syndrome?

A
  1. Rare that a genetic change is responsible

eg. mutation in the UBE3A gene or nearby region of DNA is passed to the next generation

27
Q

How is Angelman syndrome diagnosed? (2)

A
  1. Physical exam of symptoms

2. Genetic testing

28
Q

Give 4 types of genetic testing used to diagnosis Angelman syndrome

A
  1. Chromosome analysis eg. deletions
  2. Fluorescent in situ hybridisations eg. chromosome 15 deletions
  3. DNA methylation
  4. UBE3A gene mutation analysis
29
Q

Summarise the treatment of Angelman syndrome (5)

A
  1. Anti-epileptic drugs
  2. Physiotherapy
  3. Back brace/spinal surgery to prevent worsening of scoliosis
  4. SLT
  5. Behavioural therapy

Neurology (17 decks)

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