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LS YEAR 4 Paediatrics > developmental delay > Flashcards

developmental delay Flashcards

1
Q

what is the main core condition of this area?

A

cerebral palsy

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2
Q

what is cerebral palsy?

A

a disorder of movement and posture due to non-progressive lesions of motor pathways in the developing brain
although lesion is non progressive, the clinical manifestations progress over time.

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3
Q

key facts about it

A

most common motor impairment in children
affect 2 births per 1000 live
other problems reflecting widespread brain dysfuncition

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4
Q

examples of other comorbidities

A 
learning difficulties 60%
epilepsy 40$
squint 30%
visual imapriement from refractive errors or cortical damage -20%
hearing impairment 20%
speech and language disorders
behavioural disorders
feeding problems
joint contractures
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5
Q

causes

A

80% of CP is antenatal due to vascular occlusion, cortical migration disorder and structural maldevelopment of brain in utero
may result of gene deletion, genetic syndrome , congenital infections
10% Hypoxic ischemic injury at birth
10% post natal e.g. meningitis, trauma from injury, hypoglycaemia

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6
Q

symptoms

A

abnormal limb tone and or trunk posture
delayed motor milestones
feeding difficulties -oromotor incoordination slow feeding gagging
abnormal gait
asymmetrical hand function before 12 months
primitive reflexes may persist and become obligatory (normally disappear)

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7
Q

what is spastic cp

A

damage to UMN
increased tone - brisk deep tendon reflexes and ext planar response
presents early but may have initial hypotonia

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8
Q

three types

A

hemiplegia
quadriplegia
diplegia

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9
Q

key features of hemiplegia

A

unilateral involvement of limbs -usually arm affected more
face sparred
presents at 4-12 months with fisting of hand, flex arm and pronated forearm asymmetrical reaching
tiptoe walking

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10
Q

key features of quadriplegia

A

4 limbs affected but upper limbs worse
trunk with extensor posturing
associated with seizures, microcephaly, and interellecutal impairment and more likely to be result of HIE
poor head control

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11
Q

key features of diplegia

A

all four limbs but lower limbs worse
hand function may appear normal but on functional use appear as difficulties in arm
walking abnormal

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12
Q

ataxic hypotonic CP

A

symmetrical signs
early trunk and limb hyptonoia
poor balance
intention tremor and incoordinate movement and ataxia gait

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13
Q

dyskinetic cp

A

dyskesnia leading to involvement movements such as chorea, dystonia and athetosis (often seen with movement or stress)
damage to basal ganglia and extrapyramidal

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14
Q

management

A

diagnosis asap
offer support
MDT approach -speech. and language therapy, occupational health, dietician, health vision, paediatrician, psychological, social worker, physiotherapist, involve nurseries and schools, offer support and voluntary support groups to parents

rehabilitation and surgery

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15
Q

what is down syndrome?

A

the most genetic cause of severe learning difficulities

trisomy 21

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16
Q

when is it detected?

A

can be antenatally through amniocentesis but diagnosis confirmed at birth through facial features

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17
Q

at birth the majority are

A 
hypotonic 
flat occipital 
single palmar crease
incurred 5th finger
wide sandal gap
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18
Q

important thing to note about testing

A

must inform parents and cousell prior - discuss what test is and if outcome is positive

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19
Q

prognosis

A

over 85% make it part first birth
cHD is biggest cause of infant mortality in these children
50% live to over 50 years of age

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20
Q

features of Down syndrome

A 
single palmar crease 
protruding tongue
small mouth
small ears
wide sandal gap
epicanthal folds
narrow nasal bridge 
squint cataract myopia
hearing impiarment 
hypotonia 
brushfield iris spots 
flat nasal bridge
short neck
short stature
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21
Q

other risks

A 
increase risk of leuekmia /tumour
increase Alzheimer risk 
epilepsy
heairg imapriement
hypothyroidism 
CHD
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22
Q

two types of causes

A

mocasism - mild -some normal cells some with trisomy 21

translocation - three sets of chr 21

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23
Q

management

A 
diagnosis-and counsel parents 
confirm 
mdt approach
screen for chd
regular check up reviews for hearing vision feeding etc 
abx for infeciton
thyroid hormone for hypothyoirism
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24
Q

he most common inherited cause of learning disability.

A

fragile x

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25
Q

who does it affect

A

boys but can affect girls 1 in 4000 males and 1 in 8000 females
girls tend to be milder

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26
Q

what is the genetic anomaly

A

full expansion >200 repeats in the CGG triple repeat in fraXA gene on xq27.3

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27
Q

presentation of fragile x

A 
normal structure
broad forehead 
elongated face
prominent ears 
strabismus 
high arched palate
hyperextensible joints 
hand calluses 
indentation of chest -excavatum 
mitral valv prolapse
enlarged testicles
hypotyponia 
soft flesh skin
flat feet
seizures
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28
Q

what factors to consider

A 
learning difficulties < 70 IQ 
DD
30% autism 
gaze avoidance 
stereotyped repetitive behaviours such as hand flapping, residence to change in routine
clumsiness sleep disturbance 
echolalia
29
Q

diagnosis

A

amniocentesis

genetic testing in boys with unexplained learning difficulities

30
Q

management

A

speech and language therapy
SEN input
ADHD management genetic counselling
meds for adhd, seizure and mood stabilisation

31
Q

what can be given for ADHD

A

detroamfetamine and methykphenidate

32
Q

medication for mood stabilisation

A

aripiprazole

33
Q

what is developmental delay

A

slow acquisition of all skills (global delay) or one particular field or area of skill(specific delay) in relation to developmental problems in 0-5 age bracket
usually seen in first two years of life

34
Q

causes

A

idiopathic -autism, varies dysmorphic syndromes
chromosomal - Down syndrome, fragile x
perinatal injury- birth trauma or asphyxia
prenatal-FAS, intrauterine infection
endocrine /metabolic - congenital hypothyroidism, inborn errors of metabolism , phenylketonuria
neurodegenerative-leucomalacia
neurocutaneous syndrome -neurofibroma, tuberculosis sclerosis and sturge weber
post natal- meningitis, non accidental injury, neglect
cns- hydrocephalus, NTD
anoxia-drowing, seziures
stroke-vascular

35
Q

key things to ask in history

A

-milestones
-extend of delay -pattern to areas
-allow for 2 year prematurity
-loss of skills
- ask about alcohol consumption, drug use, smoking, medicall problems in pregnancy
fhx- ask about consanguinity and learning difficulties

consider tone, strength coordinator (neuro exam)
primitive reflex

36
Q 
what can the following indicate
microcepaly
hepatosplenomegalgy
cafe au last spots 
dysmorphic signs
A

microcepaly-intrauterine infection, FAS
hepatosplenomegaly- metabolic disorder
cafe au last spots -neurofibroma
dysmorphic signs - genetic disorder, teratogenic effect, chr anomaly

37
Q

investigations for ddx

A

hearin and visual tests
metabolic tests
chr analysis
thyroid function tests

38
Q

what is deafness

A 
partial or complete loss of hearing
normal threshold 0-20 decibels 
30 for whisper
50 for home nose
60 for convo speech
39
Q

types of hearing loss

classification

A

mild-cannot hear whsipers 25 db
moderate - no conversation speech 40 db
severe-cannot hear shouting 70 db
profound -cannot hear sounds which would be painful >95 db

conductive - often causes by glueear
sensorineural

40
Q

causes of hearinng loss

A
  • genetic e.g. turner or klinefelter syndrome
    intrauterine - TORCH
    alcohol, cocaine
    perinatal - egg, prematurity, low birth weight, asphyxia sepsis
    childhood infection mengitis encephalitis head injury
    20-30% no known aetiology
41
Q

presentation

A

reduced decibel thingy
speech impediements
language delay
behavioural problems

42
Q

consideration for conductive

A

serious otitis media -glueear
wax
foreign body
adenoidal hypertrophy- mouth breathing, cough and postnasal drip

43
Q

examination

A

signs of scarring, infection, fluid cholesteatoma , perforation

44
Q

red flags

A

acute onset

unilateral sensorineural - may be acoustic neuroma

45
Q

investigations

A 
renner webers tests
mir or ct scan
specific hearing tests
audiometry
tympanometry
46
Q

management

A 
dependent on cause
surgery
antibiotics 
hearing aids 
coclear implants
bls
FINGER spelling 
lip reading 
grommets 
family support and counselling
47
Q

what is the definition of blindness and visual impairmenet

A

best corrected visual acuity of less than 3/60 in better eye or field of vision less than 10 degrees
visual impairment graded according to intermedia level of visual acuity less thann 6/18

48
Q

10-30% of childhood blindness caused by

A

cataracts

49
Q

other causes

A

optic atrophy
catacts
choroidretinal degeneration

50
Q

presentation

A 
appears abnormal 
unusual movements 
smiling is incosistent 
reaching for objects delayed and pincher grip
no movement to sound 
eye poking rubbing 
complex language delayed
51
Q

important family considerations

A 
counselling
support- adaptations 
schooling options
Braille teaching
magnifying aids if needed 
surgery 
adaptions -such as large text etc
52
Q

causes of it

A 
vitamin a deficiency 
opthlamia neonatorum
glaucoma 
measles
refractive error
squint
retinopathy of premature
onchocerciasis in African and middle east
53
Q

what is austistic spectrum disorder

A

children who fail to acquire normal social and communication skills
3-6 per 1000
more common in boys
presents at 2-4 years when social and language should expand

54
Q

what is Aspergers

A

social impairment but mild end of spectrum and near normal speech but can have a stilted way of talking. weird strong interest and clumsy. no evidence for MMR link.

55
Q

management

A

support for parents, often great deal of guilt but need to reassure and remind normal for later diagnosis due to nature of picking up cues

56
Q

examples of impaired social interaction

A

does not seek comfort , share pleasure or form close friendships
prefers own company, no interest in interacting with others
gaze avoidance
lack of joint attention
socially and emotionally inappropriate behaviour
does not appreciate that others have thoughts and feelings
lack of appreciation for social cues

57
Q

speech and language disorder

A

delayed development may be severe
limited gesture and facial expression monotonous voice
impaired compression with over literal interpretation of speech
echo questions and repeats instructions referring to self as yoiu
superficially good speech sometimes

58
Q

routines with ritualistic and repetitive behaviours

A

on self and others with temper tantrums if disrupted
unusual stereotypical movement such as tiptoe gait, hand flapping
concrete play
poverty of imagination in play
peculiar interest

59
Q

comorbidities

A 
learning and attention difficulties 2/3 
seizure 1/4 but often not until teens
visual hearing impairment 
ADHD in 70%  
<70 IQ in half
60
Q

investigations

A

2-3 years of age can be reliabiliy diagnosis
MDT approach with neurology, psychiatrists, pediatricsn, etc
consider physical status with attention to neuro and dysmorphic features
karoytypical and fragile x dan anlysis
hearing and sight examination
requires many consultations
six or more symptoms acrosee all areas
all children with SPD should have comprehensive assessment

61
Q

screening questions for ASD?

A

CHAT- CHECK LIST FOR AUTISITM IN TODDLERS -modifications 23chat and m-cjhat
persuasive development disorder screening tool
screening tool for autism in 2 year olds stat
scq- SOCIAL COMM QUESTIONNAIRE in school age
all focus on joint attention social comms and play
negative result does not rule out diagnosis

62
Q

management

A

parental support
25-30 hours of individual therapy each week
TEACCH method -structured acitivities
visual augmentation
salt
SOCIAL SKILLS GROUP
OCCUPATIONAL HEALTH to improve fine motor and adaptive skills

63
Q

medications for ASD

A

ADHD- methylphenidate and aggression risperidone

64
Q

how can you prevent vitamin a Def blindness

A

give vitamin A

65
Q

what is xerophthalmia associated with

A

vitamin a deficiency

treat with vitamin a

66
Q

what can mealses be prevented and treated with blindness wise

A

vaccine for measles

vitamin a

67
Q

what aboutophthalmia neonatorum

A

form of conjucitivitis acquired during delivery
clean eyes on birth
give antibiotics for treatment

68
Q

what can be given as prophylaxis for opthalmia neonatrum

A

iodine prophylaxis

69
Q

percentahge of children with austism with ADHD

and IQ < 70

A

70%

and learning impairment <70 IQ in half

LS YEAR 4 Paediatrics (24 decks)

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