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LS YEAR 4 Paediatrics > developmental delay > Flashcards

developmental delay Flashcards

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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
who does it affect
boys but can affect girls 1 in 4000 males and 1 in 8000 females girls tend to be milder
26
what is the genetic anomaly
full expansion >200 repeats in the CGG triple repeat in fraXA gene on xq27.3
27
presentation of fragile x
``` 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 ```
28
what factors to consider
``` 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
diagnosis
amniocentesis | genetic testing in boys with unexplained learning difficulities
30
management
speech and language therapy SEN input ADHD management genetic counselling meds for adhd, seizure and mood stabilisation
31
what can be given for ADHD
detroamfetamine and methykphenidate
32
medication for mood stabilisation
aripiprazole
33
what is developmental delay
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
causes
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
key things to ask in history
-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
``` what can the following indicate microcepaly hepatosplenomegalgy cafe au last spots dysmorphic signs ```
microcepaly-intrauterine infection, FAS hepatosplenomegaly- metabolic disorder cafe au last spots -neurofibroma dysmorphic signs - genetic disorder, teratogenic effect, chr anomaly
37
investigations for ddx
hearin and visual tests metabolic tests chr analysis thyroid function tests
38
what is deafness
``` partial or complete loss of hearing normal threshold 0-20 decibels 30 for whisper 50 for home nose 60 for convo speech ```
39
types of hearing loss | classification
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
causes of hearinng loss
- 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
presentation
reduced decibel thingy speech impediements language delay behavioural problems
42
consideration for conductive
serious otitis media -glueear wax foreign body adenoidal hypertrophy- mouth breathing, cough and postnasal drip
43
examination
signs of scarring, infection, fluid cholesteatoma , perforation
44
red flags
acute onset | unilateral sensorineural - may be acoustic neuroma
45
investigations
``` renner webers tests mir or ct scan specific hearing tests audiometry tympanometry ```
46
management
``` dependent on cause surgery antibiotics hearing aids coclear implants bls FINGER spelling lip reading grommets family support and counselling ```
47
what is the definition of blindness and visual impairmenet
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
10-30% of childhood blindness caused by
cataracts
49
other causes
optic atrophy catacts choroidretinal degeneration
50
presentation
``` 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
important family considerations
``` counselling support- adaptations schooling options Braille teaching magnifying aids if needed surgery adaptions -such as large text etc ```
52
causes of it
``` vitamin a deficiency opthlamia neonatorum glaucoma measles refractive error squint retinopathy of premature onchocerciasis in African and middle east ```
53
what is austistic spectrum disorder
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
what is Aspergers
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
management
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
examples of impaired social interaction
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
speech and language disorder
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
routines with ritualistic and repetitive behaviours
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
comorbidities
``` 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
investigations
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
screening questions for ASD?
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
management
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
medications for ASD
ADHD- methylphenidate and aggression risperidone
64
how can you prevent vitamin a Def blindness
give vitamin A
65
what is xerophthalmia associated with
vitamin a deficiency | treat with vitamin a
66
what can mealses be prevented and treated with blindness wise
vaccine for measles | vitamin a
67
what aboutophthalmia neonatorum
form of conjucitivitis acquired during delivery clean eyes on birth give antibiotics for treatment
68
what can be given as prophylaxis for opthalmia neonatrum
iodine prophylaxis
69
percentahge of children with austism with ADHD | and IQ < 70
70% | and learning impairment <70 IQ in half

LS YEAR 4 Paediatrics (24 decks)

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