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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
Treatment of CP?
MDT involvement Pharma - Baclofen - Diazepam Surgery - Scoliosis - Hamstring/adductor release
26
How is hamstring/adductor relaxation done?
Botox injections
27
What are the characteristics of Down's Syndrome?
AVSD - Singular AV valve - Ostium primum - High VSD Duodenal atresia Single palmar crease Specific facies
28
What are the facies of Downs?
``` Flat occiput Upward slanting eyes Epicanthal folds Low set ears Small mouth Protruding tongue ```
29
What is Turners Syndrome?
45XO | Missing X chromosome
30
What cardiac condition is most associated with Turners?
Aortic Coarctation
31
What are the signs of aortic coarctation before subclavian split?
RR delay
32
What are the signs of aortic coarctation after subclavian split?
RF delay
33
Treatment of aortic coarctation?
Give prostaglandins to reopen the ductus arteriosus Then surgery
34
What are the characteristics of turners?
``` Short Lymphoedema Increased carrying angle Facies Neck fold Underdeveloped genitalia Brown nevi ```
35
What treatment can be done for turners?
Some hormonal therapy exists
36
What is DiGeorge syndrome?
22q11 deletion syndrome
37
What heart defect is associated with DiGeorge syndrome?
Tetralogy of fallot
38
What is the tetralogy of fallot?
Pulmonary stenosis VSD Overriding aorta Right ventricular hypertrophy
39
What is the acronym of symptoms of DiGeorge?
CATCH 22
40
What is CATCH 22?
``` C - cleft palate A - abnormal facies T - thymic dysplasia C - calcium (renal problems) H - heart defect 22 - 22q11 deletion ```
41
What does the cleft palate of CATCH 22 cause?
Speech problems
42
What are the abnormal facies in CATCH 22?
Hooded eye Tubular nose Small mouth Broad nose
43
What does the thymic dysplasia cause in CATCH 22?
T cells non production
44
What mental health condition is commonly seen in DiGeorge?
Schizophrenia
45
What is done for Tetralogy of Fallot?
Corrected at 6 months
46
What gene is affected in Marfans?
Fibrillin 1
47
What criteria can be used in Marfans/
Ghent criteria 2+ positive findings
48
What is the Ghent Criteria split into?
CV EYES SKELETAL RESP
49
CV symptoms of Ghent criteria?
Aortic dilatation/dissection Mitral valve prolapse
50
Eye symptoms of Ghent criteria?
Dislocated lens
51
Skeletal findings of Ghent criteria?
``` Tall Scoliosis/kyphosis Pectus cavus/excavatum Hand + wrist signs Valgus hindfoot ```
52
Resp findings of Ghent criteria?
Pneumothorax
53
Investigations of Marfans?
Echo Genetic MRI spine Xray - foot
54
Management of marfans?
Annual echocardiogram Drugs - Slow dilatation - > Lower BP Surgery - Prophylactic replacement of aorta
55
What are the indications for surgery in marfans?
Dilatation >5.5cm or 5% growth per year
56
What is Williams Syndrome?
Elastin deletion
57
Where is the elastin gene?
Chromosome 7
58
What heart condition is affected in Williams Syndrome?
Supra-valvular aortic stenosis
59
What are other symptoms/signs of williams?
Hypercalcaemia 5th finger cyclodactyly Abnormal facies
60
What are the abnormal facies of williams?
Small widespaced teeth Epicanthal folds BLUE STARRY EYES!!!!!
61
What is the Gene affected in Noonan's syndrome?
PTPN11 gene
62
What is the inheritence of noonans?
Autosomal dominant
63
What heart condition is found in noonans?
Pulmonary stenosis
64
What murmur is caused by a pulmonary stenosis?
Ejection systolic doesn't radiate to carotids

Paediatrics (8 decks)

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