Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Paediatrics > Paediatrics: Development > Flashcards

Paediatrics: Development Flashcards

1
Q

What are the facial features of Down’s syndrome?

A 
Short neck
Round face 
Flat Occiput
Flat facial features e.g. nose 
Prominent epicanthic folds 
Up-slanting eyes 
Brushfield spots in iris 
Low set ears 
Small mouth 
Protruding tongue
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the limb features of Down’s syndrome?

A 
Brachydactyly - short hands 
Clindactyly - incurved fingers/hands
Sandle toes
Hypotonia 
Single palmar crease 
Short stature
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are the long term features of Down’s syndrome? (do not list complications)

A 
Social skills far exceed educational attainment 
Global gross + fine motor development 
Hypothyroidism and features 
Low intellect (IQ 25-70) 
Visual disturbances - cataracts 
Deafness - secretory otitis media
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are the possible screening tests for Down’s syndrome in the 1st trimester?

A
  1. Foetal mapping
  2. Combined test (11 - 13+6wks) - nuchal translucency, raised BHCG, Low PAPP-A
  3. Chorionic villous sampling < 13 weeks
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the screening tests for Down’s during 2nd trimester?

A
  1. Quadruple test (14-20 weeks) - Raised BHCG, Inhibin-A; Low AFP and UE-3
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the diagnostic test for Down’s (after clinical presentation is known)?

A
  1. FISH - gene typing to demonstrate trisomy 21

2. Amniocentesis > 15 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the management options for Down’s?

A
  1. Referral for developmental delay unit, USS of hip, visual assessment, cardiac service (echocardiogram)
  2. TFTs - annual check
  3. Physiotherapy - for tone and posture
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

When does a squint typically develop?

A

During infancy at roughly 3 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the two main types of squints in children? Describe their features

A

Concomitant (non-paralytic)
- Convergent (estropia) - inward facing
- Divergent (extropia) - outward facing
Paralytic
- Occularmotor - ptosis, proctosis, pupil looks down and out
- Trochlear - diplopia, inability to look down, pupil pointing up
- Abducens - diplopia, inability to look lateral

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the primary cause of the concomitant squint?

A

Refractive errors causing a failure in binocular vision development
- often associated with neuro-developmental delay

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the primary cause of paralytic squints?

A

Cranial nerve motor palsy due to space occupying lesions (SOL)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

How do you test a squint?

A
  1. Observation of epicanthic folds
  2. Cover test
  3. Uncover test
  4. Corneal light reflex - normal eye fixates central, squint eye slightly off centre
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are the types of squint?

A
  1. convergent aka. estropia (common in concomitant)
  2. divergent aka. extropia
  3. paralytic - occulomotor, trochlear, abducens
  4. Pseudo - due to large epicanthic folds
  5. Latent
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the management pathway for squint?

A
  1. Refer to ophthalmologist if squint > 3 months; paralytic squint; if convergent squint investigate for retinoblastoma and cataracts
  2. MRI/CT if SOL suspected
  3. Glasses - correct refractive error of concomitant
  4. Orthoptics - eye cover on good eye to train bad eye
  5. Occular - mydriatic drops or 1% cyclopentoate
  6. Opperation - eye movement exercises –> surgery if all else fails
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the most common cause of blindness in children?

A

Down’s syndrome causing cataracts and glaucoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What vitamin deficiency is linked with blindness in children? what are the symptoms?

A

Vitamin.A deficiency due to malabsorption from lack of supplementation

  1. Xerophthalmia - dry cornea and conjunctiva
  2. Absent night vision
  3. Corneal ulcers + scarring
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are the key congenital causes of blindness?

A
  1. Infection - rubella, CMV
  2. Rb
  3. congenital cataracts
  4. Albinism
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are the most common causes of deafness post-natal?

A

Meningitis
Aminoglycosides e.g. gentamicin
OM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What are the signs of deafness in a child?

A

Delayed language and speech development
Delayed social skills development
Behavioural issues - dissobediant
Painful ear - OM

20
Q

What are the signs of deafness in a child?

A

Delayed language and speech development
Delayed social skills development
Behavioural issues - disobedient
Painful ear - OM

21
Q

What are the management options for deafness?

A

Hearing aid
Cochlear implant
Sign language education

22
Q

What causes Fragile X syndrome

A

Triplet expansion in FRAXA gene of chromosome.X27.3

23
Q

Who does fragile X affect symptomatically?

A
  1. Males - 2nd biggest cause of learning difficulties

2. Females with full triplet expansion of FRAXA triple gene (50%) - causes learning difficulty

24
Q

What are the features (physical and developmental) a/w fragile X?

A

Physical

  • macrocephaly
  • long face, broad forehead, prominent extroverted ears, prominent mandible
  • high arched palate, dental crowding
  • strabismus (squint)
  • flat feet, hollow chest
  • joint laxity, hypotonia (important!!)
  • macro-orchidism

Mental

  • global development delay
  • severe learning difficulty - IQ 20-80
  • anxiety
  • depression
  • autism - impaired social function, delayed speech and language, gaze avoidance, inability to deviate from routine
25
Q

What is the treatment for Fragile X?

A

No treatment - must manage social and medical issues

  1. SALT, education suport
  2. SSRIs (anxiety and depression), anti-convulsants (if seizures present)
26
Q

How do you diagnose fragile X?

A
  1. Karyotyping or FISH
27
Q

What is the inheritance chance of Fragile X if mother is a carrier? Who is more affected?

A
  • 50%
  • Males more affected, only one X chromosome
  • Females less affected, two X chromosomes
28
Q

What are the features of Turner’s syndrome?

A 
Hydrops
Heart shaped face, webbed short neck, 
Broad chest, wide nipples
Puffy feat, 
Lymph-adenoma,

Aortic coarctation, horse-shoe kidney, infertility

29
Q

What are the features of Noonans syndrome?

A

Triangle shaped head, curly wooly hair, flat nose, webbed neck, hyper, abnormal ears, ptosis, hypertelorism, pectus excavartum, wide nipples, short stature

30
Q

What are the features of Angelman’s syndrome?

A

Wide based ataxic gate,
Specific personality phenotype - smiling, laughing, happy, hand flapping
Speech impairment

31
Q

What are the features of Prader-willi?

A 
Hyperphagia, central obesity 
hypotonia 
micro-gonadism 
cryptorchidism 
Short stature, small hands, small feet
32
Q

What are the features of Patau syndrome?

A 
Microcephaly 
Small eyes 
Cleft lip/palate
Polydactyly with overlapping fingers
Cryptorchidism 
Severe mental retardation 
Scalp lesions
33
Q

What are the features of Osteogenesis imperfect

A

LBW, small stature, scoliosis
Blue tinge in eye
Hyperflexible and loose joints

34
Q

What are the features of William’s syndrome?

A

Hypertelorism, flat bridge of nose, short stature
Elfin face, full cheeks, wide mouth, fat lips, epicanthic folds

Over friendly, extrovert personality, short attention span, anxiety

Transient hypercalcaemia
supra-valvular aortic stenosis

35
Q

Features of foetal alcohol syndrome?

A

Short stature, small chin, small nose, epicanthic folds, hypertelorism

36
Q

What are the feature of tuberous sclerosis?

A 
Shagreen patch 
Adenoma sebaceum 
ash leaf macule 
severe intellectual impairment 
seizures
37
Q

What is the definition of blindness

A

best corrected visual acuity < 3/60

38
Q

What is the definition of partial sight

A

best corrected visual acuity > 3/60 but < 6/60

39
Q

What are the features of DiGeorge syndrome?

A

Global developmental delay (75%)
Heart defects (75%)
Seizures
Cleft palate

40
Q

What are the features of Edward’s syndrome?

A

Trisomy 18

Micrognathia 
Short stature 
Low set ears
Rockerbottom feet 
Heart defect

Die early

41
Q

What are the features of Pierre Robin syndrome?

A

Micrognathia
Posterior displacement of tongue - airway obstructed
Cleft palate

42
Q

Who is autism more common in?

A

Males (75%)

43
Q

name some autistic spectrum disorders?

A

Autism, Rett’s, Aspergers

44
Q

What are the cardinal features of autism?

A

Speech and language development delay
Impaired social interaction
Imposition of ritualistic and repetitive behaviour

45
Q

When i autism noticed and when is it diagnoseD?

A

Can be noticed as early as 2-4yo and diagnosed at pre-school years

Some people are diagnosed much later in socially awkward intelligent children

46
Q

What are the feature of autism?

A 
1. Impairment of social interaction 
Does not seek comfort from friends or family 
Has lack of concern or interest in others feelings 
Socially inappropriate behaviour 
Sexually inappropriate behaviour 
Gaze avoidance 
Lack of attention 
Prefers own company
  1. Speech and Language development
    - Delay in overall speech and language
    - Over pedantic language
    - Over-literate interpretation of language
    - Echoes questions
    - Impaired comprehension
    - Lack of gestures or facial expression
  2. Ritualistic and repetitive behaviour
    - Hand flapping
    - Tip-toe walking
    - Set routines
    - Anger if deviance from routine
    - Obsessive compulsive features
    - Peculiar ideas
    - Poverty of imagination
47
Q

What are some of the problems arising from autism?

A

Socially interaction difficulty
Executive function impaired - planning, arranging
Perceptual distortion - light, shade, colour, movement
Sensory distortion - visual, auditory, tactile
Inflexibility of thought and action
Central coherence - making corrections

Paediatrics (10 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions