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Neurology > CD: PW and TS > Flashcards

CD: PW and TS Flashcards

1
Q

What is Prader-Willi syndrome?

A
  1. Rare, complex genetic condition

2. Causes physical symptoms, learning difficulties and behavioural problems

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2
Q

When is Prader-Willi syndrome noticed?

A

Shortly after birth

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3
Q

What is the prevalence of Prader-Willi syndrome?

A

1 in 10,000 to 30,000

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4
Q

Summarise the impact of Prader-Willi syndrome (6)

A
  1. Hyperphagia
  2. Physical development
  3. Learning difficulties
  4. Behaviour problems
  5. Distinctive facial features
  6. Skin picking
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5
Q

What is hyperphagia? (3)

A
  1. Excessive appetite and overeating
  2. Can lead to excessive weight gain
  3. Higher risk of food poisoning, choking and stomach rupture
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6
Q

How is physical development impacted in Prader-Willi syndrome? (4)

A
  1. Hypotonia
  2. Restricted growth
  3. Lack of sexual development
  4. Small hands and feet
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7
Q

What are distinctive facial features of Prader-Willi syndrome? (6)

A
  1. Almond-shaped eyes
  2. Crossed eyes
  3. Narrow forehead at temples
  4. Narrow bridge of nose
  5. Thin upper lip, downturned mouth
  6. Unusually fair hair, skin and eyes
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8
Q

Describe the aetiology of Prader-Willi syndrome (4)

A
  1. Genetic deficit on chromosome 15
  2. 70% paternal deletion
  3. 25% maternal uniparental disomy
  4. Other defect that turns off paternal chromsome 15 (rare)
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9
Q

What is the prognosis of Prader-Willi syndrome? (2)

A
  1. Most unable to live independently due to behavioural and eating problems
  2. Complications which shorten life expectancy
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10
Q

What are 4 complications which may shorten life expectancy in Prader-Willi syndrome?

A
  1. Hypogonadism
  2. Morbid obesity
  3. Behavioural issues
  4. Psychological issues
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11
Q

Summarise the intervention for Prader-Willi syndrome (6)

A
  1. Managing weight and diet
  2. Exercise
  3. Hormone treatments
  4. Managing behaviour
  5. CBT for skin picking
  6. Medication eg. depression, psychosis
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12
Q

What is Turner syndrome? (2)

A
  1. Sex chromosome abnormality

2. Girls are born with one of their two X chromosomes partially or completely missing

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13
Q

What is the prevalence of Turner syndrome?

A

1/2000 girls

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14
Q

Summarise the aetiology of Turner syndrome (4)

A
  1. One normal X chromosome, other is missing or structurally abnormal
  2. Most missing the second sex chromosome in all cells - monosomy X
  3. Some have 2 X chromosomes but one has a deletion
  4. Mosiac Turner syndrome
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15
Q

What is moasic turner syndrome? (2)

A
  1. Some cells have one X chromosome, some have 2

2. Caused by spontaneous error in early foetal development

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16
Q

Summarise the symptoms of Turner syndrome (5)

A
  1. Physical development
  2. Underdeveloped ovaries
  3. Distinctive physical features
  4. Learning difficulties
  5. Associated conditions
17
Q

What are the consequences of underdeveloped ovaries? (3)

A
  1. Delayed onset or absent puberty
  2. Lack of periods
  3. Infertile
18
Q

What are distinctive physical features in Turner syndrome? (6)

A
  1. Short, wide neck
  2. Broad chest, wide nipples
  3. Low hairline
  4. Teeth problems
  5. Eyes
  6. Ears
19
Q

What are the characteristics of eyes in Turner syndrome? (6)

A
  1. Slant downwards
  2. Droopy eyelids
  3. Squint
  4. Lazy eye
  5. Cataracts
  6. Short-sightedness
20
Q

What are the characteristics of the ears in Turner syndrome?

A
  1. Low-set
  2. Recurring ear infections
  3. Hearing loss
21
Q

Give some associated conditions in Turner syndrome

A
  1. Heart murmur
  2. Kidney and UTI problems
  3. Hypothyroidism
  4. High blood pressure
  5. Osteoporosis
  6. Scoliosis
  7. Diabetes
  8. Obesity
  9. Lymphodema
  10. Digestive problems
22
Q

How is Turner syndrome diagnosed? (3)

A
  1. May be suspected in ultrasound
  2. Physical characteristics
  3. Karotyping
23
Q

Summarise the prognosis of Turner syndrome (2)

A
  1. Typically good

2. Life expectancy is shorter than average due to associated conditions

24
Q

Summarise the intervention of Turner syndrome (6)

A
  1. Regular check-ups
  2. Dedicated Turner syndrome clinics
  3. Growth hormone therapy
  4. Oestrogen and progesterone replacement therapy
  5. IVF for infertility
  6. Psychological therapy

Neurology (17 decks)

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