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child health > abnormal development > Flashcards

abnormal development Flashcards

1
Q

developmental delay

A

failure to attain appropriate developmental milestones for child’s corrected chronological age

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2
Q

patterns of abnormal development (DDR)
delay

A

global downs
specific duchenes

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3
Q

patterns of abnormal development (DDR) deviation

A

autism

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4
Q

patterns of abnormal development (DDR) regression

A

rett’s syndrome
metabolic disorders

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5
Q

up to ___ % of children have global developmental delay impaitment

A

3% of under 5s

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6
Q

autism

A

1%

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7
Q

intellectual disability

A

mild - IQ 50-70
moderate 35 - 50
severe- 20-40
profound - below 20

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8
Q

red flags for development

A
  • asymmetry of movement, up down tone
  • not reaching for objects/persistent primitive reflexes by 6 months
  • unable to sit unsupported by 12 months
  • unable to walk by 18 months -> check CK
  • no speech/not pointing by 18 months
  • concerns re vision or hearing at any age (squint)
  • loss of skills at any age
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9
Q

causes of GDD

A
  • genetic
  • metabolic / endocrine
  • traumatic (accidental)
  • environmental
  • cerebral malformations
  • complications of prematurity
  • infections (meningitis, TORCH)
  • toxins
  • unknown
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10
Q

medical screening DS

A
  • cardiac
  • vision
  • hearing
  • thyroid function
  • sleep-related breathing disorders
  • growth -> charts
  • development
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11
Q

specific developmental delays

A

***missed that one !

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12
Q

duchenne muscular dystrophy

A
  • affects approx 2500 males UK
  • x-linked recessive
  • mutation in dystrophin gene, lack of dystrophin protein in muscle, easily damaged weakness fatigue cramps pseudohypertrophy wheelchair bound
  • cardiomyopathy
  • respiratory failure
  • cognitive difficulties
  • life-limiting
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13
Q

DMD assessment and treatment

A

Dx - clinical suspicion, creatine kinase > 10000 -> genetic test
- physiotherapy & equipment
- steroids
- orthopaedic surgery
- cardiac Rx
- ventilatory support
- family support
- emerging drugs - nonsense mutation suppression/exon-skipping

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14
Q

gower’s manoeuvre

A

daniel dykes speaking to anyone

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15
Q

spinal muscular atrophy

A

affecting 70 children in UK
AR disorder
deletion/mutation of both SMN1 genes on 5q
(decrease SMN protein in spinal cord - degeneration of motor neurones)
hypotonia/ prgressuve weakness/bulbar and intercostal weakness

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16
Q

4 broad types (based on severity)

A

*** missed this too!!
can she stop skipping the slides so quick

17
Q

SMA multi-disciplinary Ax treatment

A

Dx - clinical suspctious - genetic testing for SMN1 & 2
physio and equipment
orthopaedic
nutrition & GI support
palliative care
fam support
drugs - IT nusinersen 4/12ly, IV zolgensma (ideally before 4 months)
newborn screening

18
Q

assessment of motor developmemt w/ PMT tool

A

posture - position of limbs & trunk
movememnt - symmetry, anti-gravity, smooth/jerky
tone - floppy/stiff, head control (pull to sit)

19
Q

conditions associated w/ cerebral palsy

A

mobility problems, spasticity and op
learning difficulties
epilepsy
*** I MISSED THE REST!!

20
Q

autistic triad

A
  • communication
  • social interaction
  • flexibility thought imagination
  • restricted repetitive behaviours
  • sensory difficulties
21
Q

language in ASD

A

receptive - delayed, expressive>receptive, abstract language difficult, visually more able
expressive - delayed, echolalia, unusal pitch/tone/accent, learned phases
non verbal - reduced facial expressions, reduced gesture, poor/unusual eye contact, difficulties recognising intentions of others
use of language - difficulty inititatnig and sustaining conversation, restricted interests, lack of reprocity in conversations

22
Q

social interaction in ASD

A

joint attention
difficulty turn taking sharing
referencing
less motiVated by need for social approval

23
Q

approaching a history (helpful for comms!!)

A

presenting complaint
PMH
perinatal and birth
family and social
developmental
play and behaviour
school/nursery

24
Q

examination

A

observe, dysmorphism, ht wt head circumf (OFC) , systrms, CNS inc neurocutaneous, vision, hearing

25
Q

investigations

A

primarily genetic testing
second line (if required) - MRI
** missed rest lol

child health (9 decks)

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