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Y4 paeds > Genetics > Flashcards

Genetics Flashcards

1
Q

Give 5 signs that a baby may have downs syndrome

A
  • flat occiput
  • dysmorphic round face
  • epicanthic folds
  • protruding tongue
  • short neck, aubundant neck skin
  • small ears
  • single palmer crease
  • incureved little fingers
  • gap between 1st and 2nd toes (sandle toe)
  • floppiness
  • brushfeild’s (white) spots on iris
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2
Q

Give 6 common complications of downs syndrome

A
  • GI defects: duodenal atresia, reflux, coeliac
  • heart defects: VSD, PDA, ASD
  • hypothyroidism
  • leukaemia
  • low IQ, developmental delay
  • alzheimers
  • immune disorders: cancer and infections
  • sleep apnoea
  • obesity
  • atlantoanxial instability
  • endocrine, dental, vision and hearing problems
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3
Q

Describe the screening tests for downs

A
  • blood test in pregnancy looking for plasma protein A and Hcg
  • nuchal translucency test on USS
  • tripple test if later (HCG, AFP, PAPP-A, DA, uE3)
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4
Q

Describe the diagnostic tests for downs (before and after birth)

A 
before:
- chorionic villus sampling
- amniocentesis
after:
- clinical and karyotype diagnosis
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5
Q

How should downs be managed?

A
  • MDT approach
  • monitor and treat complications
  • educational plans- may need special educational needs school
  • social groups and play groups for famillies experiencing the same issues
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6
Q

Give 3 RFs for downs syndrome

A
  • advanced maternal age
  • carrier of genetic translocation
  • having one child with downs syndrome
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7
Q

Give 5 features of turners syndrome present at birth

A
  • wide or web like neck
  • low set ears
  • broad chest w/ widely spaced nipples
  • high narrow palate
  • arms that turn outwards at elbows
  • small and upturned finger and toenails
  • swelling of hands and feet
  • slow growth
  • low hairline at back of head
  • receeding or small lower jaw
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8
Q

Give 5 signs of turners syndrome that become evident as they grow up

A
  • slow growth/ no growth spurt when expected
  • short stature
  • failure to begin sexual changes expected during puberty
  • Sexual development which stalls during teenage years
  • early end to menstrual cycles not due to pregnancy
  • inability to conceive a child without fertility treatment
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9
Q

Give 3 possible signs on prenatal USS of baby with turners syndrome

A
  • large fluid collection on back of neck or other abnormal collections of odema
  • heart abnormalities
  • abnormal kidneys
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10
Q

What is the pathophysiology of turners syndrome

A
  • X chromosome is missing or partially missing

- may be monosomy, mosaicism, Xchromosome abnormalities or only partial Y chromosome material

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11
Q

List 7 complications commonly associated with turners syndrome

A
  • heart defects (coarctation, bicuspid aortic valve)
  • high BP
  • hearing loss and frequent middle ear infections
  • vision problems (particularly myopia)
  • kidney problems (malformations eg duplex ureters and horseshoe)
  • autoimmune disorders: hypothyroidism, diabetes
  • skeletal problems eg scoliosis
  • learning disabilities
  • mental health issues and ADHD
  • infertility
  • pregnancy complications eg high BP or aortic dissection
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12
Q

Describe the 4 interventions needed for most patients with turners syndrome

A
  • growth hormone: improve height and bone growth
  • oxandrolone: increase height by increasing bodies production of protein, alone improved bone density
  • oestrogen therapy: to initiate puberty, promote breast and uterus development and helps w/ bone density
  • fertility treatment may be needed to become pregnant (clomifene)
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13
Q

Describe how duchenne’s muscular dystrophy presents

A
  • progressive weakness and wasting of muscles, onset is 3-5 years old
  • mostly affects males
  • initial symptoms inc waddling gait, difficulty rising from lying position, trouble running and jumping, walking on toes, muscle pain and stiffness
  • motor development delay and regression
  • clumsiness, frequent falls, difficulty climbing stairs, riding bikes etc may be reported
  • calf pseudohypertrophy
  • gowers sign (need to turn onto front to rise)
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14
Q

How should suspected duchennes muscular dystrophy be investigated?

A
  • CK (raised)
  • electromyography: measures contractility
  • genetic tests: for specific mutations
  • muscle biopsy
  • ECG/ echo to look for heart involvement
  • lung function tests for baseline
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15
Q

Give 5 complications of duchennes muscular dystrophy

A
  • trouble walking- needing wheelchair eventually
  • contractures
  • breathing problems due to muscle weakness, eventually needing ventilation
  • scoliosis as weakened muscles cant hold spine straight
  • heart failure
  • swallowing problems and associated aspiration pneumonia
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16
Q

State 3 medications commonly used in muscular dystrophy and why they’re used

A
  • eteplirsen: increases muscle strength
  • corticosteroids: helps strength and delays progression of MD
  • ACEi or Betablockers if damage to heart muscle
17
Q

Other than medications, what else is important in the management of muscular dystrophe

A
  • ROM and stretching exercises
  • low impact aerobic exercises for strength, mobility and general health
  • braces and splits to help avoid contractures
  • mobility aids: canes, walkers and wheelchairs
  • breathing exercises
  • surgery for spinal curvature
  • vaccinate for pneumonia and influenza
18
Q

Describe the physical features of foetal alcohol syndrome

A
  • microcephaly
  • ‘railroad track’ ears
  • flat midface
  • small palpebral fissues
  • epicanthal folds
  • smooth philtrum
  • underdeveloped jaw
  • thin vermillion boarder
  • upturned nose
  • low nasal bridge
  • joint/ limb deformities
  • vision difficulties
  • heart defects and kidney problems
  • IUGA
  • slow development
19
Q

Describe the CNS features and social and behavioural issues associated with foetal alcohol syndrome

A
  • poor coordination
  • low IQ
  • poor memory
  • attention issues, hyperactivity
  • rapidly changing mood
  • poor judgement skills
  • poor social skills
  • poor impulse control
  • poor concept of time
20
Q

What defect causes marfans and what is its inheritance pattern

A

mutation in fibrillin-1 gene on chromosome 15, autosomal dominant inheritance

21
Q

Describe the clinical features of marfans disease

A
  • tall and slender build
  • disproportionatley long arms (span exceeds height), legs and fingers
  • pectus excavatum
  • scoliosis
  • upwards lens dislocation and myopia
  • high arched palate
  • hyperflexibility
  • flat feet
  • CVS disease: aortic dissection, mitral valve prolapse, aortic regurg
22
Q

Give 5 complications of marfans disease

A
  • aortic aneurysm
  • aortic dissection
  • valve disease
  • lens dislocation
  • retinal problems- detachment or tear
  • early onset glaucoma or cateracts
  • skeletal complications/ scoliosis
23
Q

How is marfans managed?

A
  • medications: to reduce BP and prevent aorta enlarging
  • glasses and eye tests regularly
  • CT/ MRI angio to moitor heart
  • surgery to manage complications
24
Q

What can PKU cause if not picked up at newborn screening?

A
  • intellectual disability
  • seizures
  • behaviour problems
  • skin rashes and eczema
  • musty body odour
  • fair skin and blue eyes (as phenylalanine isnt converted into melanin)
  • microcephaly
  • developmental delay
25
Q

What foods need to be avoided in PKU?

A
  • meat
  • dairy
  • dry beans
  • nuts
  • eggs
  • cereals, fruits and veg in moderation
  • PKU formula for nutritional support
26
Q

Define achondroplasia

A

Short stature that results from a genetic or medical condition. Defined as an adult height of 4ft10inches or less. In achondroplasia, the short stature is disproportionate.

27
Q

Describe the habitus of a pt with achondroplasia

A
  • An average-size trunk
  • Short arms and legs, with particularly short upper arms and upper legs
  • Short fingers, often with a wide separation between the middle and ring fingers
  • Limited mobility at the elbows
  • A disproportionately large head, with a prominent forehead and a flattened bridge of the nose
  • Progressive development of bowed legs
  • Progressive development of swayed lower back
  • An adult height around 4ft
28
Q

State 5 complications of achondroplasia

A
  • delays in motor development
  • frequent ear infections and hearing loss risk
  • bowing of legs
  • sleep apnoea
  • pressure on spinal cord at base of skull
  • hydrocephalus
  • crowded teeth
  • back pain
  • spinal canal stenosis
  • arthritis
  • weight gain

Y4 paeds (14 decks)

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