Community Flashcards
developmental delay define
a delay in two or more areas - gross motor, fine motor, speech and language, social and emotional
developmental delay risk factors/causes
neurological - spina bifida, intraventricular haemorrhage, stroke
infection - herpes, HIV, meningitis
neuromuscular - SMA, duchenne muscular dystrophy
others - hypothyroid, downs, autism, phenylketonuria, prematurity
types of delay
single area or generalised
red flags of developmental delay
not smiling - 10 weeks
not sitting unsupported - 12 months
not walking - 18 months
showing hand preference - 12 months
not knowing 2-6 words - 18 months
where refer developmental delay
paediatric specialist assessment
investigations developmental delay
FBC, folate and B12 - iron defiency, pernicious
U+E - renal failure and low sodium
CK - DMD
TFT - congenital hypothyroidism
LFT - metabolic disorder
vit D - low
hearing test
can perform karyotyping
head lag when pulled up
1 month
no head lag, lifts head and chest when prone
3 months
stands and sits with straight back when held
bears most of own weight
6 months
sits withut support, moves around floor
9 months
stands without support, crawls/bottom shufflers, walk unsteadily
12 months
better walking
15 months
walks steadily, climbs stairs holding a hand
18 months
runs safely, throws balls
24 months
jumps on2 feet, kicks ball
30 months
walks backwards and sideways, catches large balls
36 months
runs up and down stairs, on tiptoes
48 months
hops, catches ball, heel toe walking
5 years old
grabs finger when placed in palm
1 month
holds toy briefly
3 months
palmar grasp, puts objects in mouth
6 months
pincer grip
9 months
release objects intentionally, points
12 months
builds tower of 2 cubes
15 months
tower of 3 blocks
18 months
tower of 6 blocks, draw horizontal line
24 months
tower of 7 blocks, tripod grip
30 months
draws circle
36 months
draws cross
42 months
draws square
48 months
draws triangle, use knife and fork
60 months
cries
newborn
coos
6-8 weeks
laughs and vocalises
3 months
understands mama, dada, babbles
6 mths
imitates adult words, understand simple commands
9 months
responds to own name, uses 2-6 words
12 mths
uses 6-40 words, tries to sing
18 mths
speaks over 200 words, joins words
24 mths
continually asks questions
30 months
name 2/3 colours, simple conversations
36 mths
talks fluently, enjoys jokes
48 mths
fluent in speech, gramatically correct
60 mths
responds to being picked up
newborn
gazes at adult faces
6 weeks
smiles at familiar faces
3 mths
feeds self with fingers
6 mths
waves bye, plays peek a boo
9 mths
drink from a cup with 2 hands, separation anxiety
12 mths
uses spoon, eager to independent
18 mths
displays tantrums, express feelings
24 mths
may use toilet independently, parallel play
30 mths
shows affection for younger siblings, toilet trailed, has friends
36 mths
eats skilfully, brushes own teeth, takes turn
48 mths
shows sympathy, likes and dislikes, engages in play co-operatively
60 mths
fascinated by human faces, turns head to light
newborn
startles at loud noises
1 mth
focuses eyes on sampe oint, moves head deliberately
3 mths
adjusts position to see objects
6 mths
sees almost as well as adult
knows and responds to own name
12 mths
recgonises themselves in mirror
18 mths
recognises familiar faces in photos
24 mths
recognises self in photos and small details
30 mths
matches primary colours, listen to long stories with attention
48 mths
can match 10 colours
60 mths
ASD more common
boys
premature
perinatal hypoxia
advanced maternal or paternal age
twin with autism (multiple genes )
genetic syndromes increased risk ASD
fragile X syndrome
tuberous sclerosis
angelmann syndrome
ASD investigations
clinical diagnosis - seen in different environments
post mortem studies and studies with neuroimaging - structural changes
clinical features ASD
abnormality of social interaction - poor eye contact, not use facial expression/body language, problems making friends, difficulty reading social cues
impaired social communication - delay or failure to develop spoken or sign language, abnormal use of language/pitch (echolalia - repetition of another person’s spoken words)
restrictive or repetitive activities - preoccupations with unusual subjects, need for routine, motor mannerisms (hand flapping)
sensory issues
severely restricted diet
not tolerate loud noises
may self harm (head banging)
examination ASD
skin stigmata of neurofibroma or tuberous sclerosis with a wood’s light
signs of injury
congenital anomalies and dysmorphic features - microencephaly
ASD diagnosis
should be features present from all three catergories and one from:
- lack of social attachment
- abnormal/delayed receptive or expressive speech
- abnormal or lack of symbolic play
before age of 3
ASD ddxq
attachment disorder
Rett’s syndrome
schizophrenia
ASD management
support - parent support groups, community based services
no meds
behaviour management strategies - routine
educational measures - school can access higher needs funding using EHCP
if aggressive - can try antipsychotics
treat co morbidities
risk factors ADHD
male
co-morbid conditions (up to 50% will)
co-morbid contiions ADHD
ASD
dyslexia
communication disorders
oppositional defiance disorder
depression, anxiety
tourette’s
cause ADHD
structural changes in brain
dopamine levels
genetic component - twin
environment
ADHD diagnosis
early onset - before 6 years old and present for some time before diagnosis
two or more settings
out of context of children’s IQ
3 main features ADHD
hyperactivity
inattention
impulsivity
—impaired attention and over activity
ADHD DSM-V criteria
inattention criteria
hyperactivity criteria
impulsivity criteria
at least 6 of criteria from inattention or hyperactivity/impulsitivity criteria before 12 years old for at least 6 mths..in more than one setting
ADHD ddx
auditary processing disorder
opoositional-defiant disorder or conduct disorder
ADHD investigations
Conner’s questionnaire
observe clinical features
ADHD management
pre- school - not meds
mild-mod - 1st line: behaviour strategies (parent education sessions), or CBT
severe - 1st line: meds - 1st line is methylphenidate, then atomoxetine or lisdexamfetamine, or guanfacine
s/e of ADHD meds
raised BP
palpitations
insomnia
impaired growth and appetite suppression
aggression
pathophysiology pierre robin sequence
7-10 weeks of gestation - lower jaw should undergo rapid growth and tongue should drop down to allow palate to fuse but tongue blocks this and palate remains cleft + tongue far back causing airway difficulties
SOX9 gene mutation on chromosome 17 assc
PRS risk factors
geentic
oligohydraminos
C.T disease
myotonia of muscles in face
PRS clinical features
micrognathia - lower jaw
cleft palate
glossoptosis - posterior tongue
PRS associated conditions
CHARGE syndrome
Di george
strickler
PRS investigations
20 week anomaly USS
more imaging
bronchoscopy
sleep studies
geneticist
PRS initial management
breathing support - sleep on fronts, nasopharyngeal airway, intubation
feeding support - special teet for bottle feedings, feeding specialist
definitive management PRS
surgery before 1st birthday - glossopexy (tongue-lip adhesion)
cleft palate repair
tracheotomy
feeding tube insertion
PRS complications
OSA
difficulty intubating
aspiration
feeding difficulties
malnutrition
middle ear effusions - hearing loss
down’s syndrome genetics
trisomy 21
- most likely occurs sporadically
- additional chromosomal material inherited from one of the parents
- mixtureof some cells containing 3 forms of chromosome 21
down’s risk factors
sporadic mutations associated with maternal maturity
down’s antenatal screening
combination test - biochemical markers in maternalblood and nuchal translucency on USS
can also from 2nd trimester onwards - chronic villi sampling or amniocentesis
down’s clinical features
small, dysplastic ears
flat nasal bridge
small mouth
short stature, short neck
epicanthic folds
upwards slanting palpebral fissures, brushfield spots
brachycephaly
single palmar crease
down’s associated conditions
congenital cataract
conductive hearing loss
OSA
AVSD
recurrent chest infection
oesophageal atresia or tracheo-oesophageal fistula
duodenal atresia
imperforate anus
hypotonia
poor growth and stature
developmental delay
neurodisability
risk fo hypothyroidism
TMD
down’s ddx
Patau, edwards’ - all trisomies differentiated by G banded analysis
down’s early management
senior paediatrician and midwife in charge
blood test - QF-PCR test, followed by G banded analysis, FBC, blood film
newborn eye assessment
universal newborn hearing screen
guthrie test - congenital hypothyroidism
ECG and echo
down’s definitive mangeemnt
treat any comorbidites
MDT
promote health
genetic counselling
Down’s complications
reduced life expectancy - <60
increased alzheimer’s
asd - features, ddx, used to make diagnosis, associated conditions, poor prog
ASD- SALT. community psychiatric nurses/asd nurse, teacher
ASD - tuberous sclerosis, fragile X
Poor prog - IQ less than 50, no communicative speech before 5
OCD
bowel habit in children tx
rewards
scheduled toileting, bowel habit diary
if chronic history of GI upset
dont ask about N+v
