CD: PW and TS Flashcards
What is Prader-Willi syndrome?
- Rare, complex genetic condition
2. Causes physical symptoms, learning difficulties and behavioural problems
When is Prader-Willi syndrome noticed?
Shortly after birth
What is the prevalence of Prader-Willi syndrome?
1 in 10,000 to 30,000
Summarise the impact of Prader-Willi syndrome (6)
- Hyperphagia
- Physical development
- Learning difficulties
- Behaviour problems
- Distinctive facial features
- Skin picking
What is hyperphagia? (3)
- Excessive appetite and overeating
- Can lead to excessive weight gain
- Higher risk of food poisoning, choking and stomach rupture
How is physical development impacted in Prader-Willi syndrome? (4)
- Hypotonia
- Restricted growth
- Lack of sexual development
- Small hands and feet
What are distinctive facial features of Prader-Willi syndrome? (6)
- Almond-shaped eyes
- Crossed eyes
- Narrow forehead at temples
- Narrow bridge of nose
- Thin upper lip, downturned mouth
- Unusually fair hair, skin and eyes
Describe the aetiology of Prader-Willi syndrome (4)
- Genetic deficit on chromosome 15
- 70% paternal deletion
- 25% maternal uniparental disomy
- Other defect that turns off paternal chromsome 15 (rare)
What is the prognosis of Prader-Willi syndrome? (2)
- Most unable to live independently due to behavioural and eating problems
- Complications which shorten life expectancy
What are 4 complications which may shorten life expectancy in Prader-Willi syndrome?
- Hypogonadism
- Morbid obesity
- Behavioural issues
- Psychological issues
Summarise the intervention for Prader-Willi syndrome (6)
- Managing weight and diet
- Exercise
- Hormone treatments
- Managing behaviour
- CBT for skin picking
- Medication eg. depression, psychosis
What is Turner syndrome? (2)
- Sex chromosome abnormality
2. Girls are born with one of their two X chromosomes partially or completely missing
What is the prevalence of Turner syndrome?
1/2000 girls
Summarise the aetiology of Turner syndrome (4)
- One normal X chromosome, other is missing or structurally abnormal
- Most missing the second sex chromosome in all cells - monosomy X
- Some have 2 X chromosomes but one has a deletion
- Mosiac Turner syndrome
What is moasic turner syndrome? (2)
- Some cells have one X chromosome, some have 2
2. Caused by spontaneous error in early foetal development
Summarise the symptoms of Turner syndrome (5)
- Physical development
- Underdeveloped ovaries
- Distinctive physical features
- Learning difficulties
- Associated conditions
What are the consequences of underdeveloped ovaries? (3)
- Delayed onset or absent puberty
- Lack of periods
- Infertile
What are distinctive physical features in Turner syndrome? (6)
- Short, wide neck
- Broad chest, wide nipples
- Low hairline
- Teeth problems
- Eyes
- Ears
What are the characteristics of eyes in Turner syndrome? (6)
- Slant downwards
- Droopy eyelids
- Squint
- Lazy eye
- Cataracts
- Short-sightedness
What are the characteristics of the ears in Turner syndrome?
- Low-set
- Recurring ear infections
- Hearing loss
Give some associated conditions in Turner syndrome
- Heart murmur
- Kidney and UTI problems
- Hypothyroidism
- High blood pressure
- Osteoporosis
- Scoliosis
- Diabetes
- Obesity
- Lymphodema
- Digestive problems
How is Turner syndrome diagnosed? (3)
- May be suspected in ultrasound
- Physical characteristics
- Karotyping
Summarise the prognosis of Turner syndrome (2)
- Typically good
2. Life expectancy is shorter than average due to associated conditions
Summarise the intervention of Turner syndrome (6)
- Regular check-ups
- Dedicated Turner syndrome clinics
- Growth hormone therapy
- Oestrogen and progesterone replacement therapy
- IVF for infertility
- Psychological therapy