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Finals > Paediatric genetic conditions > Flashcards

Paediatric genetic conditions Flashcards

1
Q

Explain mitochondrial inheritance

A
  • Mitochondrial DNA is primarily from the mother.
  • All of the mitochondria in the sperm are in the tail, which does not enter the egg
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2
Q

Explain the cause of Down’s syndrome

A
  • Trisomy 21
  • 3 copies of chromosome 21
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3
Q

What are the dysmorphic features seen in Down’s syndrome

A
  • Hypotonia
  • Brachycephaly
  • Prominent epicanthic folds
  • Upward sloping palpebral fissures
  • Single palmar crease
  • Short neck
  • Short stature
  • Flattened face and nose
  • Brushfield spots in iris
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4
Q

what are the screening tests involved in Down’s to determine the need for more invasive tests?

A
  • Combined test
  • Triple test
  • Quadruple test
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5
Q

what is the first line screening test for Downs and what does it involve?

A
  • Combined
  • Done between 11 and 14 wks
  • Combines USS for nuchal translucency and maternal bloods
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6
Q

What outcome of the combined test would suggest increased risk of Down’s

A
  • USS -> nuchal thickness >6mm
  • Bloods : higher beta-HCG and lower pregnancy-associated plasma protein-A (PAPPA)
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7
Q

When is the triple test done and what does it involve ?

A
  • Between 14 and 20 weeks
  • Beta-HCG : higher result indicates greater risk.
  • Alpha-fetoprotein (AFP) : lower result indicates a greater risk.
  • Serum oestriol : lower result indicates a greater risk.
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8
Q

What is the quaruple test and when is it done

A
  • Between 14 and 20 weeks
  • Same as triple but involves inhibin-A
  • Higher inhibin-A = greater risk
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9
Q

When is more invasive antenatal testing for Down’s done ?

A
  • If the screening suggests a risk of greater than 1 in 150
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10
Q

What two tests are involved in antenatal testing for Down’s and when is it done ?

A
  • Chorionic villus sampling (before 15 wks)
  • Amniocentesis : later in pregnancy
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11
Q

what two GI conditions are seen in children with Down’s

A
  • Duodenal atresia
  • Hirschsprung’s
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12
Q

what cardiac complications are seen in children with Downs’

A
  • VSD
  • ASD
  • Tetralogy of fallot
  • PDA
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13
Q

what other complications are seen in people with Down’s

A
  • LD
  • Recurrent otitis media
  • Deafness (due to glue ear)
  • Hypothyroid
  • Atlantoaxial instablility
  • Leukaemia (ALL)
  • Dementia
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14
Q

What members of the MDT are involved in the care of a child with Down’s ?

A
  • OT
  • Speech and language therapy
  • Physiotherapy
  • Dietician
  • Paediatrician
  • GP
  • Health visitors
  • Cardiologist for congenital heart disease
  • ENT specialist for ear problems
  • Audiologist for hearing aids
  • Optician for glasses
  • Social services for social care and benefits
  • Additional support with educational needs
  • Charities such as the Down’s Syndrome Association
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15
Q

What is the chromosomal make up of someone with Klinefelter syndrome ?

A

Male with an extra X chromsome (47XXY)

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16
Q

What features are seen in Kleinfelter’s after puberty ?

A
  • Taller height
  • Wider hips
  • Gynaecomastia
  • Weaker muscles
  • Small testicles
  • Reduced libido
  • Shyness
  • Infertility
  • Subtle learning difficulties (particularly affecting speech and language)
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17
Q

How are turner’s and Klinefelters diagnosed ?

A
  • Karyotype
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18
Q

How is someone with Klinefelter’s supported ?

A
  • Testosterone injections
  • IVF
  • Breast reduction
    MDT input :
  • Speech and language therapy
  • OT
  • Physio to strengthen muscles and joints
  • Educational support where required for dyslexia and other learning difficulties
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19
Q

What chromosomal abnormality is seen in someone with Turner’s ?

A
  • Female with single X chromosome (45XO)
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20
Q

What are the features of someone with Turner’s ?

A
  • Short stature
  • Webbed neck
  • Broad chest with widely spaced nipples
  • High arching palate
  • Downward sloping eyes with ptosis
  • Broad chest with widely spaced nipples
  • Cubitus valgus
  • Underdeveloped ovaries with reduced function
  • Late or incomplete puberty (ammenorrhoea)
21
Q

What cardiac conditions are seen in women with Turner’s ?

A
  • Bicuspid aortic valve and coarctation of the aorta = ejection systolic murmur
  • Increased risk of aortic dilation and dissection = regular monitoring
22
Q

what are the other associated conditions in a woman with Turner’s ?

A
  • Recurrent otitis media
  • Recurrent UTI
  • Hypothyroidism
  • Hypertension
  • Obesity
  • Diabetes
  • Osteoporosis
23
Q

what is the most common renal abnormality in women with Turner’s syndrome ?

A

Horseshoe kidney

24
Q

What is the inheritance of Noonan Syndrome ?

A

Autosommal dominant

25
Q

What are the features of Noonan ?

A
  • ‘Male’ Turner’s
  • Short stature
  • Webbed neck
  • Widely spaced nipples
  • Broad forehead
  • Downward sloping eyes with ptosis
  • Hypertelorism
  • Prominent nasolabial folds
  • Low set ears
26
Q

what heart defect is associated with Noonan’s ?

A
  • PULMONARY VALVE STENOSIS
  • Hypertrophic cardiomyopathy
  • ASD
27
Q

What other conditions are associated with Noonan’s ?

A
  • Cryptorchidism
  • LD
  • Bleeding disorders (factor XI deficiency)
  • Lymphoedema
  • Increased risk of leukaemia and neuroblastoma
28
Q

Explain the inheritance of Marfan’s

A
  • Autosommal dominant connective tissue disorder effect fibrillin
  • Defect in FBN1 gene on chromosome 15
29
Q

Explain the features seen in Marfan’s

A
  • Tall stature
  • Long neck
  • Long limbs
  • Arachnodactyly
  • High arch palate
  • Hypermobility
  • Pectus carinatum or pectus excavatum
  • Downward sloping palpable fissures
30
Q

what cardiac conditions are associated with marfan’s

A
  • Mitral valve prolpase with regurg
  • Aortic valve prolapse with regurg
  • Aortic aneurysms
31
Q

what other conditions are associated with Marfan’s ?

A
  • Lens dislocation in the eye
  • Joint dislocations and pain due to hypermobility
  • Scoliosis of the spine
  • Repeated pneumothorax
  • GORD
32
Q

What is the most important aspect of management in someone with Marfan’s

A
  • Minimise BP and HR due to risk of AA
  • Lifestyle advice + BB and ACEIs
33
Q

Explain the inheritance of Fragile X syndrome ?

A
  • X linked, trinucleotide repeat disorder
  • Mutation in the FMR1 (fragile X mental retardation 1) gene on the X chromosome
34
Q

What are the features of fragile X ?

A
  • Intellectual disability
  • Long, narrow face
  • Large ears
  • Large testicles after puberty
  • Hypermobile joints
  • ADHD
  • Autism
  • Seizures
35
Q

what cardiac condition is seen in children with fragile X syndrome ?

A

Mitral valve prolapse

36
Q

Explain the inheritance of Prader-Willi syndrome

A
  • Absence of Prader-Willi gene on long arm of chromosome 15 (paternal)
37
Q

what are the features of Prader-Willi syndrome ?

A
  • Constant insatiable hunger that leads to obesity
  • Hypotonia
  • Mild-moderate learning disability
  • Hypogonadism
  • Fairer, soft skin that is prone to bruising
  • Mental health problems, particularly anxiety
  • Dysmorphic features
  • Narrow forehead
  • Almond shaped eyes
  • Strabismus
  • Thin upper lip
  • Downturned mouth
38
Q

what medication is used in the management of Prader-Willi, focusing on impriving muscle development and body composition ?

A
  • Growth hormone
39
Q

Explain the is the inheritance of Angelman

A
  • Loss of function of UBE3A gene, inherited from the mother
40
Q

What are the features of Angelman syndrome

A
  • Fascination with water
  • Happy demeanour
  • Inappropriate laughter
  • Hand flapping
  • Widely spaced teeth
  • Delayed development and LD
  • Severe delay or absence of speech development
  • Ataxia
41
Q

Explain the cause of William’s syndrome

A

Deletion of genetic material on one copy of chromosome 7

42
Q

What are the features of William’s syndrome ?

A
  • Starburst eyes
  • Friendly and sociable personality
  • Elfin-like facies
  • Learning difficulties
43
Q

Give 4 associated conditions with William’s syndrome

A
  • Supravalvular aortic stenosis
  • ADHD
  • Hypertension
  • Hypercalcaemia
44
Q

Give 4 key features of Patau syndrome + its cause

A
  • Trisomy 13
  • Microcephalic, small eyes
  • Cleft lip / palate
  • Polydactyly
  • Scalp lesions
45
Q

Give 4 features of Edwards’s syndrome + its cause

A
  • Trisomy 18
  • Micrognathia
  • Low-set ears
  • Rocker bottom feet
  • Overlapping features
46
Q

Give 3 features of Pierre-Robin syndrome

A
  • Micrognathia
  • Posterior displacement of tongue -> upper airway obstruction
  • Cleft palate
47
Q

Give 5 features of Cri du chat syndrome

A
  • Characteristic cry
  • Feeding difficulties and poor weight gain
  • LD
  • Microcephaly and micrognathism
  • Hypertelorism
48
Q

What is seen on bloods in someone with Turner’s

A
  • Raised FSH/LH in primary amenorrhoea
49
Q
A

Finals (92 decks)

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