MSRA clinical bits Flashcards
Neonatal blood spot screening
-congenital hypothyroidism
-cystic fibrosis
-sickle cell disease
-phenylketonuria
-medium chain acyl-CoA dehydrogenase deficiency
-Maple syrup urine disease
-isovaleric acidaemia
-glutair aciduria type 1
-homocystinuria (pyridoxine unresponsive)
4 months immunisations:
-‘6-1 vaccine’ (diptheria, tetanus, whooping cough, polio, Hib and hepatitis B)
-PCV
-Men B
Speech and hearing milestones - 3 months
-Quietens to parents voice
-Turns toward sound
-Squeals
Speech and hearing milestones - 6 months
-Double syllables ‘adah’ ‘eleh’
Speech and hearing milestones - 9 months
-Says ‘mama’ and ‘dada’
-Understands ‘no’
Speech and hearing milestones - 12 months
-Knows and responds to own name
Speech and hearing milestones - 12-15 months
-Knows about 2-6 words (Refer at 18 months)
-Understands simple commands - ‘give it to mummy’
Speech and hearing milestones - 2 years
-Combine two words
-Points to parts of the body
Speech and hearing milestones - 2 1/2 years
-Vocabulary of 200 words
Speech and hearing milestones - 3 years
- Talks in short sentences
-Asks what and who questions
-Identifies colours
-Counts to 10
Speech and hearing milestones - 4 years
-Asks ‘why’, ‘when’ and ‘how’ questions
Gross motor milestones - 3 months
-No head lag on pulled to sit
-Good head control on abdomen
-Lumbar curve
Gross motor milestones - 6 months
-Arms extended in abdomen
-Grasps feet on back
-Pulls self to sitting
-Back straight sitting
-Rolls front to back
Gross milestones - 7-8 months
Sits without support (refer at 12 months)
Gross motor milestones - 9 months
-Pulls to standing
-Crawls
Gross motor milestones - 12 months
-Cruises
-Walks with one hand held
Gross motor milestones - 13-15 months
-Walks unsupported (refer at 18 months)
Gross motor milestones - 18 months
-Squats
Gross motor milestones - 2 years
- Runs
-Up and down stairs with rail
Gross motor milestones - 3 years
-Tricycle using pedals
-Stairs without rail
Gross motor milestones - 4 years
Hops on one leg
Inheritence - Homocystinuria
Autosomal Recessive
Patau syndrome
Trisomy 13
-Microcephalic, small eyes
-Cleft lip/palate
-Polydactyly
-Scalp lesions
Edward’s syndrome
Trisomy 18
-Micrognathia
-Low-set ears
-Rocker bottom geet
-Overlapping fingers
Fine motor and vision - 3 months
-Reaches for object + holds briefly if given
-Sees faces + fixes through 180 degrees
Fine motor and vision - 6 months
-Palmar grasp + passes hand to hand
-Looks every direction
Fine motor and vision - 9 months
-Points with finger
-Early pincer
Fine motor and vision - 12 months
-Good pincer grip
-Bangs toys together
Bricks milestones
15 months - Tower of 2
18 months - Tower of 3
2 years - Tower of 6
3 years - Tower of 9
Drawing milestones
18 months - Circular scribble
2 years - Copies vertical line
3 years - Copies circle
4 years - Copies cross
5 years - Copies square and triangle
Book milestones
15 months - Looks at book, pats page
18 months - Turns pages, several at time
2 years - Turns pages, one at time
Suspected meningococcal septicaemia in community - <1 year old
IM benzylpenicillin 300mg
Suspected meningococcal septicaemia in community - 1-10 years old
IM benzylpenicillin 600mg
Suspected meningococcal septicaemia in community - >10 year old
IM benzylpenicillin 1200mg
Fragile X
-Learning difficulties
-Macrocephaly
-Long face
-Large ears
-Macro-orchidism
Noonan syndrome
-Webbed neck
-Pectus excavatum
-Short stature
-Pulmonary stenosis
Pierre-Robin Syndrome
-Micrognathia
-Posterior displacement of the tongue (may result in upper airway obstruction)
-Cleft palate
Prader-Willi syndrome
-Hypotonia
-Hypogonadism
-Obesity
William’s syndrome
-Short stature
-Learning difficulties
-Friendly, extrovert personality
-Transient neonatal hypercalcaemia
-Supravalvular aortic stenosis
Cri du chat synrome
(chromosome 5p deletion syndrome)
-Characteristic cry
-Feeding difficulty + poor weight gain
-Learning difficulties
-Microcephaly and micrognathism
-Hypertelorism
Paediatric normal heart rate
< 1 110 - 160
1-2 100 - 150
2-5 90 - 140
5-12 80 - 120
>12 60 - 100
Paediatric normal respiratory rate
<1 30 - 40
1-2 25 - 35
2-5 25 - 30
5-12 20 - 25
>12 15 - 20
Down’s syndrome risk - maternal rage 20
1 in 1,500
Down’s syndrome risk - maternal rage 30
1 in 800
Down’s syndrome risk - maternal rage 35
1 in 270
Down’s syndrome risk - maternal rage 40
1 in 100
Down’s syndrome risk - maternal rage 45
1 in 50 or greater
Hearing testing: newborn/infant
Otoacoustic emission test for all newborns (Newborn Hearing Screening Programme)
Auditory Brainstem Response test - if otoacoustic emission test abnormal
Hearing testing 6-9 months
Distraction test
Hearing testing 18m - 2.5y
Recognition of familiar objects
Hearing testing >2.5 years
Performance testing
Speech discrimination tests (similar sounding words)
Hearing testing >3 years
Pure tone audiometry - at school entry
Trinucleotide repeat disorders
-Fragile X
-Huntington’s
-myotonic dystrophy
-Friedreich’s ataxia
-spinocerebellar ataxia
-spinobulbar muscular atrophy
-dentatorubral pallidoluysian atrophy
Opthalmia neonatorum: typical organisms
Chlamydia trachomatis - days 1-5
Neisseria gonorrhoea - day 3-2 weeks
Measles
-Prodrome: irritable, conjunctivitis, fever
-Koplik spots
-Rash behind ears > whole body.
-Discrete maculopapular > confluent blotchy
Mumps
-Fever, malaise, myalgia
-Parotitis: unilateral to bilateral
Rubella
-Maculopapular rash starts on face > whole body > fades day 3-5
-Suboccipital and postauricular lymphadenopathy
Erythema infectiosum
“Fifth Disease/Slapped-Cheel”
Parvovirus B19
Lethargy, fever, headache
Slapped-cheek rash, spread to proximal arms and extensors
Scarlet fever
Toxins from Group A haemolytic strep
Fever, malaise, tonsillitis, strawberry tongue
Fine punctate rash with circumoral pallor
Hand, foot and mouth
Coxsackie A16
Sore throat, fever, vesicles in mouth/palms/soles
Chickenpox
Fever initially
Itchy rash: head/trunk and spreads.
Macular > papular > vesicular.
Colour - Green
Normal colour
Colour - Amber
Pallor reported by parent/carer
Colour - Red
Pale/mottled/ashen/blue
Activity - Green
-Responds normally to social cues
-Conent/smiles
-Stays awake/awakens quickly
-Stron normal cry/not crying
Albinism
Autosomal Recessive
Ataxic telangiectasia
Autosomal Recessive
Congenital adrenal hyperplasia
Autosomal Recessive
Cystic fibrosis
Autosomal Recessive
Cytsinuria
Autosomal Recessive
Familial Mediterranean Fever
Autosomal Recessive
Fanconi anaemia
Autosomal Recessive
Friedreich’s ataxia
Autosomal Recessive
Glycogen storage disease
Autosomal Recessive
Haemochromatosis
Autosomal Recessive
Homocystinuria
Autosomal Recessive
Lipid storage disease: Tay’Sach’s, Gaucher, Niemann-Pick
Autosomal Recessive
Mucopolysaccharidoses: Hurler’s
Autosomal Recessive
PKU
Autosomal Recessive
Sickle cell anaemia
Autosomal Recessive
Thalassaemias
Autosomal Recessive
Wilson’s disease
Autosomal Recessive
Achondroplasia
Autosomal Dominant
Acute intermittent porphyria
Autosomal Dominant
Adult polycystic disease
Autosomal Dominant