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Paediatrics RACP clinical exam > Clinical signs match > Flashcards

Clinical signs match Flashcards

1
Q

Investigations for global developmental delay

A

FBC, U+E
TFTs
Lead, iron studies, B12, Folate
Urine metabolic screen
Chromosomal microarray, Fragile X

Additional metabolic screening on basis of history of developmental regression

MRI if mod-severe GDD, or large or small head, or seizures, regression or focal neurology. Try await until 2 years

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2
Q

Types of developmental screening and assessments

A

Screening: ages and stages
Assessment:
Griffiths 0-6 yrs
Baileys 0-2 yrs

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3
Q

Global developmental delay definition

A

2 or more domains of delayed developement

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4
Q

HEADS assessment stands for

A

Home
Education/Exercise
Activities
Drugs/alcohol
Sexuality/suicide/safety

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5
Q

Hip x-rays for CP- what are you looking for

A

Migration percentage
Subluxation
Leg length discrepancy

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6
Q

IQ scales

A

WISC - 7+ years
WPPSI 3-6 years

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7
Q

Mild ID = approx what age?

A

8-12 yrs

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8
Q

What is RTLB?

A

Resource teacher of learning and behaviour
- Often go into school, make assessment + plan. Not ORS funded, family usually apply

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9
Q

Ideas to help address carer burnout

A
  • Sleep
  • Appts clustered
  • Ideas to increase supports: wider family/friends to support, give permission to reach out to natural supports/community
  • Explore healthy boundaries, having child getting used to having someone else look after them. learning they can be safe with other people
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10
Q

Child disability allowance
Disability allowance
What are these?

A

CDA- anyone can get this, need to be NZ resident, not needs tested

Disability allowance - for glasses, vitamins w restricted eating, transport to appt

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11
Q

Central causes for hypotonia (Strong floppy)

A

Genetic- T21, Prader Willi
Structural - lissencephaly
Neurodegenerative - Tay Sachs, MPS
Neurocutaneous - SWS
Metabolic- aminoacidopathies
Encephalopathy
Infection - TORCH
Endocrine - Hypothyroidism, hypopituitarism

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12
Q

Myotome for Tip toe and heel posture

A

Plantar flexion: S1
Dorsiflexion L5 (CP & DMD can’t do this)

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13
Q

Peripheral causes for hypotonia - weak floopy

A

SMA
Peripheral nerve - Gillian Barre
NMJ- Myasthenia, infantile botulinism
Muscle - congenital muscular dystrophy, myopathies

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14
Q

Causes of goitre

A

TSH (is a growth factor) from hypothyroidism
Activation of TSH receptors (graves)
Thyroiditis
Nodules
Iodine deficiency

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15
Q

What kind of CP is more common in ex-premmies

A

Diplegic CP
Periventricular leukomalacia

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16
Q

Dystonia vs spasticity

A

Dystonia - changes throughout the day, differs with excitement

Spasticity - velocity dependent hypertonia

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16
Q

Possible treatments for dystonia

A

Baclofen
Gabapentin
Botox (less so)

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16
Q

Cautions with baclofen

A

Sedation
Decreases seizure threshold
Can’t suddenly stop

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17
Q

Leg rashes consistent with IBD

A

Erythema nodosum
Pyoderma gangrenosum

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18
Q

Clinically detect jaundice. Then go onto assess….

A
  • Signs of fat soluble fat deficiency (bone health)
  • Hypothyroidism
  • Alagilles (triangular face, peripheral pulmonary stenosis)
  • Hypopituitarism
  • TORCH
  • Haemolysis (inc HC)
  • Wilsons
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19
Q

Indications and side effects of cyclosporin

A

Indications: rheum, transplants, IBD

S/E: Nephrotoxicity, gum hyperplasia, hypertension

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20
Q

Tacrolimus side effects

A

Tremor
Hypomagnesiumia
Allopecia

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21
Q

Usual meds for kidney transplants

A

Induction: IV Methylpred + basiliximab

Maintenance: Cyclosporin/tac + mycophenolate + steroids

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22
Q

Side effects of chronic steroid use

A

Weight gain
Behavioural issues
Thinning skin
Gastritis
Faltering height
Hypertension
Infection
STRESS STEROID PLAN
Myopathy
Osteoporosis

23
Q

Short stature syndromes

A

Turners - webbed neck, CoA, shield chest
Noonans - pulmonary stenosis
Russel-Silver: macocephaly, face asymmetry, cafe au last
Fanconi anaemia: microcephaly, thumb + radial abnormalities, bone marrow failure
Williams: elfin facies, supravalvular aortic stenosis
T21
Achondroplasia

24
Q

Endocrine causes of short stature

A

Hypothyroidism
Hypopituitarism
GH deficiency
Cushings syndrome
Pseudohypoparathyroidism

25
Q

Gross motor milestones for
6w
4m
6m
9m
12m
18m
2y
3y

A

6w: head raised 45 when prone
4m: head control when upright
6m: Rolls, sits unsupported, no head lag when pulled to sit
9m: crawls
12m: walks
18m: walks well, throw ball
2y: runs well, walks up steps, jump w both feet
3y: catch large ball
4y - hop on one foot

26
Q

Fine motor milestones for

A
27
Q

Skin side effects of chronic steroid use

A

Thin skin
Hirsituism
Bruising
Facial erythema
Impaired wound healing
Acne
Striae

28
Q

Steroid side effects
Use Mnemonic

A

Cataracts/cushingoid face
Ulcers
Striae
Hypertension/hirsuitism
Infections/immunosuppression
Necrosis (AVN)
Growth impairment
Obesity/Osteoporosis
ICP raised
Diabetes

Myopathy
Adipose tissue hypertrophy/acne
Psychosis/mood disturbance

29
Q

Different renal imaging methods and purposes

A

Renal USS: gross structure
DMSA: scaring
MAG3: function and obstruction

30
Q

Causes of hepatomegaly

A

Structural/storage
Haematological/heart
Infection
Rheum/reticuloendothelial
Tumour/trauma

31
Q

Structural causes of hepatomegaly + common ages/main features

A

Biliary atresia (usually PC 2-3w of life, ideally Kasai before 2m, all will eventually need transplant)

Choledochal cyst

Gallstones - can cause extra hepatic obstruction

Alagile syndrome - usually PC neonatal period. Peripheral pulmonary stenosis, triangular face

Congenital hepatic fibrosis

32
Q

Storage/metabolic causes of hepatomegaly & common associations/findings/presentations for each

A

Gauchers (massive hepatosplenomegaly + anaemia & thrombocytopenia)

Neimann Pick (type B = hepatosplenomegaly + normal intelligence. Type C = neuro involvement/GDD, vertical gaze palsy

Glycogen storage disease (type 1 = Von Girke, doll like face, thin extremities

Mucopolysaccharidoses (coarse facial features,
Urea cycle disorders
Wilsons disease (PC 5+ yrs)
A1AT deficiency
CF

33
Q

Investigations for Wilsons

A

Screening test - ceruloplasmin (low in Wilsons) but also acute phase reactant

Often have haemolytic anaemia

24 hr urinary copper

Stimulation w D-Penicillamine –> +++ urinary copper

Liver biopsy - gold standard

34
Q

Haematological causes of hepatomegaly

A

Thalassaemia
Sickle cell disease
Acute lymphoblastic leukaemia
Acute myeloid leukaemia

34
Q

Infective causes of hepatomegaly

A

Hepatitis A/B/C
EBV
CMV

35
Q

Rheumatological/reticuloendothelial causes of hepatomegaly

A

JIA
SLE
Lymphoma
Histiocytosis
Sarcoid

36
Q

Tumours causing hepatomegaly

A

Hemangioma
Hepatocellular carcinoma
Hepatoblastoma (1.5-2 yrs)
Metastases

37
Q

Causes of splenomegaly

A

Cardiac - infective endocarditis
Haem - hereditary spherocytosis, G6PD, B thalassaemia
Infective: EBV, CMV
Malignancy -leukaemia, lymphoma
Portal hypertension
Storage: gaucher, Neiman pick

38
Q

Causes of acute ataxia:

A
  1. Drug/toxin (alcohol, phenytoin, piperazine neuroleptics, pesticides)
  2. Head injury
  3. Infection (coxsackie, echo, influenza)
  4. Lesion (infarct, tumour, abscess, bleed)
  5. Cerebral tumours e.g. brainstem, hydrocephalus, Arnold Chiari malformation Hypoglycemia
  6. Labyrinthitis
  7. Vitamin E and zinc deficiency
39
Q

Causes of chronic ataxia:

A
  1. Ataxic cerebral palsy (10% of all cerebral palsy)
  2. Degnerative - Friedreich ataxia, AT, Wilson, Refsum, Batten, metachromatic leukodystrophy
  3. Neoplastic - astrocytoma, medulloblast (opsiclonus myoclonus),
    Other: hypothyroid, multiple sclerosis (rare in childhood), abetalipoproteinaemia
40
Q

Syndromes with hemihypertrophy

A

Russel-Silver
Beckwith-Weidemann
McCune-Albright
Proteus

41
Q

Syndromes with syndactyly

A

Aperts, Poland, Smith-Lemli Opitz

41
Q

Syndromes with Clinodactyly

A

Down, Russel-Silver, Seckel, Rubinstein-Taybi, Cornelia-De-Lange, Prader-Willi

42
Q

Syndromes with shortened 4th metacarpal

A

Pseudohypoparathyroidism
Turner
FAS

43
Q

Simian crease - name 2 syndromes a/w this

A

Down
Cornelia-De-Lange,

44
Q

Syndromes with epicanthic folds

A

Noonan, Williams, Turner, Down

45
Q

Findings with cranial nerve III lesion

A

Affected eye will be outward with dilated pupil
Ptosis
Normal consensual response but no direct pupillary response

46
Q

Causes of cranial nerve III abnormality

A

Congenital
Space occupying lesion

47
Q

Cranial nerve IV lesion - what does the eye look like

A

Eye will be up and out (usually works to pull eye down and in). will have head tilt away from affected eye

48
Q

CrN VI lesion

A

Eye will be deviated medially

49
Q

Causes of CrN VI lesion

A
  1. Raised intracranial pressure
  2. Brainstem nuclei – associated CN7 palsy, intranuclear ophthalmoplegia, long tract signs, cerebellar signs (medulloblastoma)
  3. Mobeius syndrome – bilateral +/- absent CN7
  4. Nerve problem
    - Infection/inflammatory/post viral
    - Petros temporal bone (affects CrN 5,6,7,8)
    - Cavernous sinus – contains CN 3, 4, 6, 5 (ophthalmic and maxillary)
  5. Orbital lesions – proptosis, chemosis
50
Q

Causes of Horners syndrome

A
  1. Disrupted sympathetic nervous system anywhere from hypothalamus to eye
  2. Congenital
  3. Acquired – brachial plexus, neuroblastoma, tumours/injuries affecting superior cervical chain or carotid artery
    Commonest - post-cardiac surgery
50
Q

Presentation of Horners - findings clinically

A

○ Ptosis, meiosis, anhidrosis
○ Long-standing - heterochromia and enopthalmia

51
Q

Classic triad for McCune Albright syndrome

A

Cafe au lait - coast of maine

Polyostiotic fibrous dysplasia

Endocrine abnormalities esp precocious puberty

51
Q

Endocrine abnormalities to look for in McCune Albright syndrome

A

FSH/LH - precocious puberty

TSH: hyperthyrodism

ACTH: Cushing syndrome

PTH: hyperparathyroidism & rickets

52
Q
A
53
Q
A

Paediatrics RACP clinical exam (1 decks)

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