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Paediatrics > Paediatric Genetics > Flashcards

Paediatric Genetics Flashcards

1
Q

Definition of developmental delay?

A

Functional delay in one or more developmental domains

2SD below mean of age appropriate norm

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2
Q

What is global developmental delay?

A

Delay in 2 or more domains

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3
Q

What are the causes of motor delay?

A

Cerebral palsy
Delayed maturation
Co-ordination disorder

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4
Q

Sensory causes of delay?

A

Specific language impairment

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5
Q

What are the major red flags of developmental delay?

A

FLOPPY
No speech by 18 months
Toe walking

Can’t sit unsupported by 1 yr
Not walking by 18m
No running by 30m
Unable to hold objects by 5m

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6
Q

Aetiology of autism?

A

Idiopathic

Sibs and parents with OCd, anxiety, depression

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7
Q

What conditions are associated with autism spectrum disorder?

A

Rubella
Downs
Fragile X
Tuberous sclerosis

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8
Q

3 (triad) main symptoms of autism?

A
  1. Qualitative impairment of reciprocation of social interaction (can’t respond to things normally)
  2. Repetitive stereotypical behaviours (unusual hobbies)
  3. Poor communication
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9
Q

Management of autism?

A

Recognise and accept condition
Advice and education
Establish needs

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10
Q

What are the three main causes of cerebral palsy (CP) on the whole?

A

Pre-natal
Perinatal
Post-natal

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11
Q

What are the pre-natal causes of CP?

A

ToRCH

  • Toxoplasmosis
  • Other
  • Rubella
  • CMV
  • Herpes/HIV
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12
Q

What are the perinatal causes of CP?

A

Anoxic injury
Prematurity
Kernicterus

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13
Q

What is kernicterus?

A

Bilirubin toxicity in the brain

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14
Q

What are the post natal causes of CP?

A

CMV
Rubella
Head trauma

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15
Q

Typical presentation of CP?

A

” 18 m/o presents failing to meet developmental milestones. He sat independantly at 1 y/o but does not pull to stand or attempt to walk. He has hyperreflexic lower limbs and bilateral ankle clonus. “

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16
Q

What are the 4 types of CP?

A

Spastic
Ataxic
Athetoid
Rigid

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17
Q

What is affected in spastic CP?

A

Pyramids

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18
Q

What is affected in ataxic CP?

A

Cerebellum

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19
Q

What is affected in athetoid CP?

A

Extrapyramidal

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20
Q

What is affected in Rigid CP?

A

Basal ganglia

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21
Q

How else is CP categorizeD?

A

Anatonical number of limbs affected

  • Bi
  • Hemi
  • Mono

etc

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22
Q

What score can be used in CP?

A

Gross Motor Classification Score (GMCS)

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23
Q

What is the GMCS?

A

1: Can walk without limitation
2: Can walk with some limitation
3: Can walk with handheld aid
4: Can’t walk but can use EWC
5: Can’t walk or use EWC used MWC and is pushed

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24
Q

Investigation CP?

A

Examination
- Functional problems

MRI

Hip XR

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25
Q

Treatment of CP?

A

MDT involvement

Pharma

  • Baclofen
  • Diazepam

Surgery

  • Scoliosis
  • Hamstring/adductor release
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26
Q

How is hamstring/adductor relaxation done?

A

Botox injections

27
Q

What are the characteristics of Down’s Syndrome?

A

AVSD

  • Singular AV valve
  • Ostium primum
  • High VSD

Duodenal atresia

Single palmar crease

Specific facies

28
Q

What are the facies of Downs?

A 
Flat occiput
Upward slanting eyes 
Epicanthal folds
Low set ears
Small mouth 
Protruding tongue
29
Q

What is Turners Syndrome?

A

45XO

Missing X chromosome

30
Q

What cardiac condition is most associated with Turners?

A

Aortic Coarctation

31
Q

What are the signs of aortic coarctation before subclavian split?

A

RR delay

32
Q

What are the signs of aortic coarctation after subclavian split?

A

RF delay

33
Q

Treatment of aortic coarctation?

A

Give prostaglandins to reopen the ductus arteriosus

Then surgery

34
Q

What are the characteristics of turners?

A 
Short
Lymphoedema 
Increased carrying angle
Facies
Neck fold 
Underdeveloped genitalia 
Brown nevi
35
Q

What treatment can be done for turners?

A

Some hormonal therapy exists

36
Q

What is DiGeorge syndrome?

A

22q11 deletion syndrome

37
Q

What heart defect is associated with DiGeorge syndrome?

A

Tetralogy of fallot

38
Q

What is the tetralogy of fallot?

A

Pulmonary stenosis
VSD
Overriding aorta
Right ventricular hypertrophy

39
Q

What is the acronym of symptoms of DiGeorge?

A

CATCH 22

40
Q

What is CATCH 22?

A 
C - cleft palate
A - abnormal facies
T - thymic dysplasia
C - calcium (renal problems)
H - heart defect
22 - 22q11 deletion
41
Q

What does the cleft palate of CATCH 22 cause?

A

Speech problems

42
Q

What are the abnormal facies in CATCH 22?

A

Hooded eye
Tubular nose
Small mouth
Broad nose

43
Q

What does the thymic dysplasia cause in CATCH 22?

A

T cells non production

44
Q

What mental health condition is commonly seen in DiGeorge?

A

Schizophrenia

45
Q

What is done for Tetralogy of Fallot?

A

Corrected at 6 months

46
Q

What gene is affected in Marfans?

A

Fibrillin 1

47
Q

What criteria can be used in Marfans/

A

Ghent criteria 2+ positive findings

48
Q

What is the Ghent Criteria split into?

A

CV
EYES
SKELETAL
RESP

49
Q

CV symptoms of Ghent criteria?

A

Aortic dilatation/dissection

Mitral valve prolapse

50
Q

Eye symptoms of Ghent criteria?

A

Dislocated lens

51
Q

Skeletal findings of Ghent criteria?

A 
Tall
Scoliosis/kyphosis
Pectus cavus/excavatum
Hand + wrist signs
Valgus hindfoot
52
Q

Resp findings of Ghent criteria?

A

Pneumothorax

53
Q

Investigations of Marfans?

A

Echo

Genetic

MRI spine

Xray - foot

54
Q

Management of marfans?

A

Annual echocardiogram

Drugs

  • Slow dilatation
  • > Lower BP

Surgery
- Prophylactic replacement of aorta

55
Q

What are the indications for surgery in marfans?

A

Dilatation >5.5cm or 5% growth per year

56
Q

What is Williams Syndrome?

A

Elastin deletion

57
Q

Where is the elastin gene?

A

Chromosome 7

58
Q

What heart condition is affected in Williams Syndrome?

A

Supra-valvular aortic stenosis

59
Q

What are other symptoms/signs of williams?

A

Hypercalcaemia
5th finger cyclodactyly
Abnormal facies

60
Q

What are the abnormal facies of williams?

A

Small widespaced teeth
Epicanthal folds
BLUE STARRY EYES!!!!!

61
Q

What is the Gene affected in Noonan’s syndrome?

A

PTPN11 gene

62
Q

What is the inheritence of noonans?

A

Autosomal dominant

63
Q

What heart condition is found in noonans?

A

Pulmonary stenosis

64
Q

What murmur is caused by a pulmonary stenosis?

A

Ejection systolic doesn’t radiate to carotids

Paediatrics (8 decks)

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