abnormal development Flashcards
developmental delay
failure to attain appropriate developmental milestones for child’s corrected chronological age
patterns of abnormal development (DDR)
delay
global downs
specific duchenes
patterns of abnormal development (DDR) deviation
autism
patterns of abnormal development (DDR) regression
rett’s syndrome
metabolic disorders
up to ___ % of children have global developmental delay impaitment
3% of under 5s
autism
1%
intellectual disability
mild - IQ 50-70
moderate 35 - 50
severe- 20-40
profound - below 20
red flags for development
- 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
causes of GDD
- genetic
- metabolic / endocrine
- traumatic (accidental)
- environmental
- cerebral malformations
- complications of prematurity
- infections (meningitis, TORCH)
- toxins
- unknown
medical screening DS
- cardiac
- vision
- hearing
- thyroid function
- sleep-related breathing disorders
- growth -> charts
- development
specific developmental delays
***missed that one !
duchenne muscular dystrophy
- 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
DMD assessment and treatment
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
gower’s manoeuvre
daniel dykes speaking to anyone
spinal muscular atrophy
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
4 broad types (based on severity)
*** missed this too!!
can she stop skipping the slides so quick
SMA multi-disciplinary Ax treatment
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
assessment of motor developmemt w/ PMT tool
posture - position of limbs & trunk
movememnt - symmetry, anti-gravity, smooth/jerky
tone - floppy/stiff, head control (pull to sit)
conditions associated w/ cerebral palsy
mobility problems, spasticity and op
learning difficulties
epilepsy
*** I MISSED THE REST!!
autistic triad
- communication
- social interaction
- flexibility thought imagination
- restricted repetitive behaviours
- sensory difficulties
language in ASD
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
social interaction in ASD
joint attention
difficulty turn taking sharing
referencing
less motiVated by need for social approval
approaching a history (helpful for comms!!)
presenting complaint
PMH
perinatal and birth
family and social
developmental
play and behaviour
school/nursery
examination
observe, dysmorphism, ht wt head circumf (OFC) , systrms, CNS inc neurocutaneous, vision, hearing
investigations
primarily genetic testing
second line (if required) - MRI
** missed rest lol
