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Flashcards in Neurology and Community Deck (105):
1

developmental warning signs at any age?

regression in previously acquired skills
maternal concern

2

developmental warning signs at 6 mnths?

little interest in people, toys, noises
hand preference
persistent squint
persistent primitive reflexes

3

in clinically evaluating the development of a child, up till when should correction for prematurity be made?

2 years

4

what is maturational delay?

isolated delay in learning to talk

5

when is walking considered to be delayed?

if not achieved by 18 months

6

if a child presents with delayed walking, what features would help you differentiate between cerebral palsy and muscular dystrophy as possible aetiologies?

cerebral palsy: developmental delay in other areas e.g. fine motor skills, social skills and language, which are normal in muscular dystrophy, and which have likely been identified before child starts walking in CP if severe disease.
o/e: child has hypertonia and hypereflexia in affected limb, whereas in muscular dystrophy, pt later on has large but weak calf muscles and weakness of hip girdle muscles.

7

what does microcephaly at birth suggest?

fetal alcohol syndrome
intrauterine infection
genetic disorder

if develops within 1st yr of life in assoc. with developmental delay then neurodegenerative disorder or perinatal cause should be suspected.

8

what investigations should be performed in ALL children with global developmental delay-delay in acquiring all developmental milestones including fine motor skills, social skills and language?*

TFTs
chromosomal analysis
metabolic function or brain imaging may be indicated in some.

9

what does regression of skills suggest?

a neurodegenerative disorder

10

types of cerebral palsy?

spastic=commonest (90%), there is damage to cerebral motor cortex or its connections-pyramidal or corticospinal tract pathway. types=spastic hemiplegia, diplegia-legs affected to much greater degree than arms and quadriplegia. spastic tone velocity dependent. note may be initial hypotonia.
dystonic/dyskinetic* (athetoid)=basal ganglia damage, there are irregular and involuntary movements.
ataxic cerebral palsy=rare,cerebellar damage, characterised by hypotonia, incoordination and intention tremor. usually genetically determined.
mixed e.g. spastic-athetoid, ataxic-spastic

11

give 5 main aims of managing patient with cerebral palsy?

minimise effects of spasticity and contracture development-regular physio-professional must give advice on correct way to hold pt during daily activities e.g. feeding, dressing, carrying, to limit effects of abnormal muscle tone. also exercises taught to stop deforming contractures developing, and can provide aids e.g. walking frames.
identify and manage any assoc. problems e.g. learning difficulties, epilepsy, visual impairment and squint, hearing loss, feeding difficulties-poor feeding and nutrition occur secondary to pseudobulbar palsy, resp problems e.g. aspiration pneumonia, constipation-poor oral intake and mobility.
ensure child provided with appropriate support for their special educational needs.
ensure adequate support for family e.g. financial, practical and emotional.
try to maximize child's integration into society.

MDT input best provided by a child development team, includes physio, OT, speech therapy, nutrition, orthopaedic-hip dislocation and scoliosis repair, tendon lenghthening or transfer, osteotomy to realign a limb.
if spasticity severe and causing pain may sometimes prescribe drug to reduce muscle spasm-baclofen-PO or intrathecal cannula and pump

12

aetiology of cerebral palsy?

damage to immature brain, definitely up to postnatal period and may be up to 3 yrs
cause often thought to be due to disrupted blood flow in brain areas poorly served by cerebral circulation

13

how is severity of gross motor impairment in cerebral palsy quantified?

using the Gross Motor Function classification system
helps with initial assessment and monitoring response to therapy
=levels 1-5
1:walks without limitations
2:walks with limitations
3:walks using a handheld mobility device
4:self-mobility with limitations;may use powered mobility
5:transported in manual wheelchair

14

RFs for cerebral palsy?

maternal age more than 35 years
black ethnicity
intrauterine growth restriction

higher incidence in premature infants and twin births

15

define cerebral palsy

abnormality of movement and posture causing activity limitation attributed to non-progressive but permanent disturbances that occurred in the developing fetal or infant brain.
usually presents in infancy with abnormal tone and posture, delayed motor milestones and feeding difficulty.

16

prenatal causes of cerebral palsy?

differentiate between causes during 1st, 2nd and 3rd trimesters of pregnancy*
cerebral malformations
intrauterine TORCH infection-toxoplasma, other (e.g. syphilis), rubella, CMV, herpes-simplex or VSV, or HIV
placental insufficiency
fetal coagulation and AI disorders
cerebrovasc accidents
chromosomal anomalies

17

what may be the presenting features of cerebral palsy in relation to delayed motor milestone of independent standing or walking?

holds arm or both arms stiffly and bent
excessive tiptoe gait-due to excessive lower limb motor tone*
sits with weight to 1 side
uses predominantly 1 hand for play
1 leg may be stiff

18

what may persist in children with cerebral palsy, which normally facilitate normal patterns of movement to develop but need to disappear for motor development to progress?

primitive reflexes*

19

describe features of spastic hemiplegia presentation of cerebral palsy?

unilateral arm and leg involvement, arm often more severely
pres. often 4-12mnths of age, with affected hand fisting
flexed arm
pronated forearm
asymmetric reaching or hand function
tiptoe walk subsequently

20

what might visual field testing reveal in a patient with spastic hemiplegia type cerebral palsy and why?

a hemianopia (?homonymous)
as may occur with strokes which in neonatal period may be the cause of cerebral palsy.

21

presenting features of spastic quadriplegia in cerebral palsy?

opisothonus (trunk extensor posturing)
low central tone
poor head control

more severe type, often assoc. with seizures, microcephaly, and moderate or severe intellectual impairment.

22

what form of cerebral palsy is assoc. with preterm birth due to periventricular brain damage?

spastic diplegia

23

commonest cause of dyskinetic cerebral palsy?

hypoxic-ischaemic encephalopathy at term-compromised pulmonary or placental GE, or ceases altogether, causing CR depression, there is subsequent CO compromise diminishing tissue perfusion causing hypoxic-ischaemic injury to brain and other organs e.g. kidneys. subsequent pt survival with normal neurological function more likely in moderate and severe encephalopathy if mild hypothermia.

in the past was kernicterus (hyperbilirubinaemia) due to rhesus disease of the newborn

24

presenting features of dyskinetic cerebal palsy?

chorea, athetosis or dystonia-sudden contraction of a group of muscles causing an abnormal posture
floppiness
poor trunk control
delayed motor development
may be relatively unimpaired intellect

25

define a seizure

sudden change in behaviour, may involve jerky movements and/or changes in sensory perception.

26

what are febrile convulsions?

these refer to a seizure accompanied by a fever in the absence of intracranial infection due to bacterial meningitis or viral encephalitis.
genetic predisposition-10% risk in child with affected 1st degree relative
seizure usually early in infection where temperature rising rapidly, note pt may not actually have raised temperature before seizure onset
generalised tonic-clonic seizures-onset in both hemispheres, initial rigid tonic phase where child may fall to ground, don't breathe, then clonic-limb jerking, with irregular breathing and saliva may accumulate in mouth, few s to few mins.

27

RFs for recurrent febrile convulsions?

the younger the child
the shorter the duration of illness before seizure
the lower the temp at time of seizure
+ve FH

28

what is the association between febrile seizures and epilepsy?

risk of developing epilepsy in simple febrile seizures is similar to risk of other children BUT increased risk of 4-12% of subsequent epilepsy in those with complex febrile seizures-focal, prolonged, rpted in same illness.

29

management of patients with febrile convulsions AFTER seizure?

reassurance and education of parents: febrile seizures are NOT same as epilepsy, if simple then similar risk of epilepsy development as children without febrile convulsions, if short lasting then NOT harmful to the child. risk of recurrence-about 1/3, but more likely if younger child, shorter illness duration before seizure, FH, lower temp at time of seizure.
advice to parents about what to do should another seizure occur:
-protect them from injury
-do not restrain or put anything in mouth
-check airway, place in recovery after seizure stopped, advise may be sleepy for up to 1hr
-call ambulance if seizure lasts longer than 5 mins.

when and how to seek urgent medical advice - any seizure, serious symptoms such as non-blanching rash, lack of normal alertness, dehydration, the child getting worse, the parent worried and fever for more than 5 days.

advice on paracetamol and ibuprofen use for fever management, but inform doesn't prevent convulsions.

30

when to r/f child urgently to hospital with febrile convulsions?

1st febrile seizure
serious illness not excluded e.g. MENINGITIS-may require infection screen with blood culture, urine culture and LP, if child unconscious or CVS unstable, start Abx immediately as LP contraindicated
previous history of febrile seizure with:
child under 18 mnths (meningitis is harder to detect in this age group)
diagnostic uncertainty about the cause of the present seizure
complex seizure (focal, prolonged or rpted in same illness)-more likely to recur or be due to intracranial infection compared with simple seizures
Abx currently/recently (mask signs of meningitis).
early r/v by a doctor not possible.
home circumstances unsuitable.
Also, consider referral if no focus of infection is found (for a period of observation and to investigate for UTI).

31

rescue therapy that can be given to parents for children with a hx of prolonged seizures (more than 5min) during febrile convulsions?

rectal diazepam or buccal midazolam

32

what are muscular dystrophies?

inherited disorders with muscle degeneration-muscle wasting and weakness, often progressive.
classified as a type of neuromuscular disorder (peripheral motor disorders).

33

what is spinal muscular atrophy?

autosomal recessive degeneration of anterior horn cells, causing progressive muscle weakness and wasting of skeletal muscles, result of mutations in survival motor neurone (SMN) gene.
2nd most common cause of neuromuscular disease in UK after duchenne muscular dystrophy.
different phenotypes-type 1-children can never sit unaided, 2-can sit but never walk independently, 3-do walk and can present later in life (Kugelberg-Welander).

34

examples of causes of neuromuscular (peripheral motor) disorders?

disorders of anterior horn cell:
spinal muscular atrophy
poliomyelitis
disorders of peripheral nerve:
hereditary motor sensory neuropathies
acute post-infectious polyneuropathy (GB syndrome)
Bell palsy
disorders of NM transmission:
MG
muscle disorders:
muscular dystophies-Duchenne/becker/congenital
inflammatory myopathies-
benign acute myositis
dermatomyositis/polymyositis
myotonic disorders-
dystrophia myotonica
metabolic myopathies
congenital myopathies

35

key clinical feature of a neuromuscular disorder?

weakness

36

what is spinal muscular atrophy type 1 (werdnig-hoffmann disease)?

this is a certain phenotype of spinal muscular atrophy-a type of neuromuscular disorder in which there is degeneration of anterior horn cells.
very severe progressive disorder presenting in early infancy
in pregnancy, diminished fetal movements often noticed, and at birth may be arthrogryposis-positional deformities of limbs with contractures of at least 2 joints.
signs:
lack of antigravity power in hip flexors
absent tendon reflexes
intercostal recession
tongue fasciculation

can never sit unaided (normally achieved by 6-9mnths)

37

prognosis in spinal muscular atrophy type 1?

very poor
death from resp failure within about 1 yr
but milder forms exist with later onset

38

most common subtype of cerebral palsy?

spastic diplegia
spasticity classically devlops between 6 and 18mnths

39

perinatal causes of cerebral palsy?

prematurity e.g. periventricular leukomalacia-necrosis of white mater around the ventricles
hypoxia-hypoxic ischaemic encephalopathy
?asphyxia in neonatal period-CSF protein, lactate and kernicterus-result of unconjugated hyperbilirubinaemia
hypoglycaemia

40

postnatal causes of cerebral palsy?

cerebrovasc accident
trauma
IC infections

41

what might a CT/MRI scan show of a patient with previous TORCH infection?

intracranial calcification

42

why are cerebal palsy patients at risk of regular aspiration pneumonia?

poor swallow mechanism, unable to safely protect their airway

43

classical migraine features?

unilateral throbbing headache
N+V
visual disturbance-lines, dots in vision, blurring, *note opthalmological migraines different form
aura-paraesthesia, anaesthesia, facial weakness, difficulty talking
may be period related
triggers-foods e.g. chocolate, caffeine, stress
FH of migraines
NORMAL BETWEEN EPISODES

44

what is labelled as an acute life-threatening event?**

episodes in young babies of being found limp or twitching

45

features on examination of a child with 'fits, faints and funny turns', that suggest an underlying metabolic problem?

significant vomiting
developmental delay
dysmorphism
hepatosplenomegaly
micro- or macrocephaly

46

what are infantile spasms?

also known as West syndrome
these are a severe form of myoclonic epilepsy, with a part. poor prognosis
onset usually between 3 and 8mnths
typical flexion spasms-jack-knife or salaam spasms, last a few s and occur in clusters lasting up to half an hr, violent flexor spasms-1-2s, of head, trunk and limbs, then arm extension (salaam spasms)
often happen on waking from sleep, often multiple bursts of 20-30
may be hx of perinatal complications e.g. asphyxia or meningitis
regression of developmental skills after onset, development may have been normal or delayed before onset, social interaction often deteriorates
most will eventually lose skills and develop epilepsy or learning disability

47

what does the EEG show in infantile spasms?

hypsarrhythmic (chaotic) pattern

48

defining characteristics of epilepsy?

recurrent seizures
unprovoked seizures
epileptic seizures-transient disturbance of consciousness, behaviour, emotion, motor function or sensation due to abnormal electrical activity in the brain.

49

types of generalised epileptic seizures?

tonic-clonic
tonic
absence
myoclonic
atonic-brief loss of tone assoc. with falls

50

goals in managing epilepsy?

ensure diagnosis correct
control fits
minimise drug ADRs
ensure any learning difficulties addressed
help child live a normal life with full participation in home and school activities

51

EEG features of absence seizures?

characteristic 3 per second spike and wave activity

52

characteristic features of temporal lobe epilepsy?

altered or impaired consciousness, with strange sensations or semipurposeful movements e.g. chewing or sucking
may be postictal phase
falling does not ususally occur-assoc. with myoclonic seizures

53

what types of epilepsy is an EEG characteristic for?

absence seizures-3 per second spike and wave activity
infantile spasms-hypsarrhythmic pattern

54

what is status epilepticus?

a prolonged convulsion lasting 30mins or more, or a series of shorter convulsions with failure to regain consciousness between them, lasting 30mins or more.
rapid tment required for prolonged convulsion, maintain airway, give O2, check blood glucose, can give rectal diazepam, if given should also give IV lorazepam.

55

most common anatomical causes identified for epilepsy?

1/3 of epilepsy patients have an anatomically identifiable cause
cerebrovascular disease
cerebral tumour
post-traumatic epilepsy

56

what are focal seizures?

previously known as partial seizures
usually consist of twitching of jerking of 1 side of face, an arm or leg (focal motor), may be focal sensory-strange sensation e.g. paraesthesia in 1 body part
consciousness usually retained or only slightly impaired.
auras can precede complex focal seizures, e.g. unexpected tastes, smells or paraesthesia.

57

immediate management of pt having a seizure?

protecting person from injury, checking their airway, and placing them in the recovery position AFTER the seizure stops.
If a tonic-clonic seizure is prolonged or recurrent, emergency buccal midazolam may be given first-line in the community according to pre-arranged protocol.
emergency admission to hospital if seizures do not respond promptly to treatment.

58

causes of epilepsy?

about 2/3 in UK with no anatomically identifiable cause='idiopathic epilepsy'=most common cause of epilepsy in younger people.
underlying cause thought to be complex developmental abnormalities in synaptic connections and NT distribution and release. genetic predisposition in many
about 30% of people with epilepsy have a first-degree relative with the condition.
it is a feature of over 200 genetic disorders, accounting for approximately 2% of people with epilepsy.
1/3 with epilepsy in the UK have an anatomically identifiable cause, and/or clinical features indicative of an underlying disease or condition='symptomatic epilepsy' and is the most common cause of epilepsy in older people.
most common=cerebrovascular disease, cerebral tumour, and post-traumatic epilepsy.
Less common= perinatal brain injury caused by fetal hypoxia or trauma; cortical or vascular malformation; cerebral abscess or tuberculoma; and surgery to the brain.

59

RFs causing predisposition to epilepsy?

FH
genetic condition with known association e.g. childhood epilepsy syndromes, or neurocutaneous syndromes such as tuberous sclerosis or neurofibromatosis.
previous febrile seizures in childhood espec. if complicated febrile convulsions-focal, prolonged, rptd in same illness.
previous intracranial infections, brain trauma (especially a penetrating brain injury), or surgery.
Comorbid conditions such as cerebrovascular disease or cerebral tumours

60

epilepsy complications?

death:
SUDEP-dies suddenly without identifiable cause, more at risk if greater frequency and severity of seizures
accidents
'epilepsy and status epilepticus'

depression and anxiety
poor school performance
behavioural difficulties
injuries

61

when can discontinuation of epilepsy tment be considered?

if child been free of fits for 2 yrs
discontinue gradually! *risk of WD seizures

62

features of ataxia telangiectasia?

usually presents by 2yrs of age with progressive cerebellar ataxia:
DANISH-coordination problems-dysdiadochokinesis, ataxia-lack of voluntary coordination of muscle movements e.g. unbalanced gait, nystagmus, intention tremor, scanning dysarthria, heel-shin test positivity.
lack of facial expression
tendency to drool
slow slurred speech
recurrent infections part. sinus and resp as lack IgA
telangiectasias from age of 3-conjunctivae, pinnae, face, sternum and flexures.

death due to Ca and resp failure

63

what is ataxia-telangiectasia?

rare autosomal recessive disorder characterised by:
progressive neurodegeneration
high malignancy risk e.g. lymphomas and acute lymphoblastic leukaemia in 1st 2 decades, and breast Ca in women
immunodeficiency
hypersensitivity to ionising radiation
chromosomal breakage

classical form=2 mutated A-T genes on chromosome 11 causing total loss of ATM protein (a protein kinase) important for repairing DNA damage.

64

investigations in ataxia-telangiectasia?

serum alpha fetoprotein-raised in 90%
genetic testing for ATM genes and absence of ATM protein in nuclear extracts
in vitro radiosensitivity testing

65

ataxia-telangiectasia management?

no cure
neuro symps problematic, basal ganglia dysfunction tment with L-DOPA derivatives, dopamine antagonists and anticholinergics. loss of balance, and speech and co-ordination problems may be improved with amantadine, fluoxetine and buspirone.
tremors-gabapentin, clonazepam and propranolol
prompt treatment of infections, may use Abx prophylacis. regular injection of Igs.
screening for swallow-related problems and aspiration, consider use of thickeners and enteral feeding.
regular malignancy screening with FBC and tumour markers
MDT- input of physiotherapy, speech and occupational therapists is particularly important.
High-dose vitamin regimes, folic acid and alpha lipoic acid-?anti-cancer
avoid X-rays unless treatment dependent on them and alternatives e.g. MRI or US not available.

66

what are psychogenic non-epileptic seizures?

prev known as hysterical seizures
physical manifestation of a psychological disturbance-may have hx of physical or sexual abuse, divorce, sudden life change, no abnormal brain electrical activity
gradual onset, asynchronous flailing movements, no incontinence or postictal state e.g. drowsiness, or bodily injury
unusual aura
often emotional stimulus precipitates event
abrupt change of epsiode in response to a stimulus
not infrequently occur in children with genuine epileptic condition
EEG normal

67

management of psychogenic non-epileptic seizures?*

often require r/f to psychiatrist, need a full psychological assessment

68

management of infantile spasms?*

vigabatrin-enzyme inhibitor stopping breakdown of GABA, or corticosteroids

69

specific drug management of epilepsy?*

**

70

differential diagnosis of a toddler who is crying, then turns blue with limbs going into extension?

breath holding attack:
child cries because of pain or temper, then takes a deep breath and stops breathing, becomes cyanotic and extends limbs
may be brief LOC, and occasionally convulsive jerks of extremities
child then becomes limp, resumes respirations and returns to full alertness after a few s

note CRYING, BREATH HOLDING THEN NO POST ICTAL PHASE.

provide reassurance to parents and may need behaviour modification therapy with distraction

71

prognosis of cyanotic breath holding spells?

always benign
disappear before school age
higher incidence of vasovagal attacks later in life

72

presentation of reflex anoxic seizures?

trigger e.g. pain or discomfort like minor head trauma, cold food, fright or fever
infant or toddler may or may not start to cry, but then turns pales and collapses due to vagal reflex overactivity causing transient bradycardia and circulatory impairment
transient apnoea and limpness
may be generalised tonic-clonic seizure due to hypoxia, breif seziure adn child rapidly recovers with no post ictal phase

EEG normal
just need to reassure
attacks disappear spontaneously before school age

73

causes of non-epileptic seziures?

psychogenic
febrile
meningitis or encephalitis
metabolic: hypoglycaemia, hypocalcaemia, hypomagnesaemia, hypo/hyper natraemia
head trauma
poisons/toxins

74

define myoclonus

rapid muscle jerks that are frequently repetitive and cause significant disability

75

what is benign sleep myoclonus?

this is common in 1st year of life
rapid jerking movements of body occurring only in sleep
child otherwise well
no change in colour or SpO2
no specific tment needed

76

cause of child waking from sleep confused, frightened and not recognising parents?

night terrors-
child wakes from sleep confused, disorientated, frightened and does not recognise parents.
may be signs of ANS activity-dilated pupils, sweating, tachypnoea, tachycardia.
child may take few mins to become orientated, and does not remember event

require simple reassurance
benign, and usually self-limited

77

**investigations and assessment to consider in child with developmental delay?

cytogenetic
metabolic
infection
imaging
neurophysiology
histopathology/histochem
other

78

what are the 3 central movement control centres?

motor cortex-info travels down corticospinal (pyramidal) tracts to link with basal ganglia. Disorder-weaknesss with shoulder adduction, elbow flexion, forearm pronation, IR and adduction of hip-*leg scissoring, hip and knee flexion, ankle PF, hypereflexia, extensor plantars, loss of fine finger movement.
basal ganglia-store movement patterns
cerebellum-important for movement. dysfunction=difficulty initiating movement-dystonia, or dyskinesia-chorea or athetosis-writhing.
cerebellum-movement execution in relation to feedback on joint position. disorder=wide based gait, scanning dysarthria, dysmetria, dysdiadochokinesis, nystagmus.

79

causes of corticospinal disorders?

cerebral dysgenesis e.g. neuronal migration problem
global hypoxia-ischaemia
arterial ischaemic stroke
cerebral tumour
acute disseminated encephalomyelitis
post-ictal paresis
hemiplegic migraine

80

examples of disorders of the peripheral nerves?

hereditary motor sensory neuropathies
acute post-infectious polyneuropathy (GB syndrome)
bell palsy and facial nerve palsies

81

presentation of guillain-barre syndrome-acute post-infectious polyneuropathy?

usually 2-3wks post URTI or campylobacter gastroenteritis
may be fleeting abnormal sensory symptoms in legs
ascending symmetrical weakness with loss of reflexes, and AN involvement
difficulty chewing, dysphagia and aspiration risk with involvement of bulbar muscles
resp depression-may need mechanical ventilation
full recovery can take up to 2 years
distal limb sensory symptoms

82

results of investigations in guillain-barre syndrome?

CSF protein markedly raised, but may not be seen until 2nd wk of illness, WCC NOT RAISED
reduced nerve conduction velocities

83

guillain-barre syndrome management?

mainly supportive
may reduce ventilator dependent time with Ig infusion
plasma exchange
?effect of corticosteroids

84

Differentials for global developmental delay?

Infective: perinatal injury and infection
Meningitis
Trauma
Metabolic: congenital hypothyroidism
Idiopathic severe learning disability
Genetic: downs, other dysmorphic and chromosomal abnormalities e.g. Fragile X
Fetal alcohol syndrome
Abuse and neglect
CNS malformations
Neurodegenerative
Neurocutaneous e.g. Sturge-weber syndrome, Neurofibromatosis, tuberous sclerosis**

85

causes of speech and language difficulties?

developmental: maturational delay (often familial)-isolated delay in learning to talk
environmental deprivation and neglect
learning disabilities (mental retardation)-delay in fine motor skills and social skills also usually present.

deafness

speech (or articulation) difficulties: stammer
cleft lip and palate

communication difficulties: autism

language disorder

86

Duchenne muscular dystrophy (DMD) is inherited in what pattern?

X-linked recessive

87

aetiology of DMD?

deletion (mainly) mutations in dystophin gene, causing protein absence, causing progressive muscle degeneration

88

presentation of DMD?

all patients have symptoms by 3years of age but diagnosis often delayed, progressive proximal muscular dystrophy:
delayed motor milestones
inability to run, waddling gait when try
Toe walking
gower's sign-climbing up the body using hands when rising from the floor
calf muscle pseudohypertrophy-enlarged but due to fat deposition due to muscle wasting, deltoid, tongue, masseters and quads may also be enlarged

also
speech delay or global developmental delay
failure to thrive
fatigue
abnormal LFTs-raised AST or ALT
anaesthesia complications e.g. rhabdomyolysis, malignant hyperthermia, myoglobinuria

89

important features to assess in young boy for DMD?

watch child running and rising from the floor

90

how are patients with suspected DMD investigated?

serum CK initially: 10-100 X normal from birth in DMD, if normal at presentation then rules out DMD, but CK levels drop later in disease due to muscle wasting
precise diagnosis is best achieved with combination of genetic analysis, muscle biopsy-with assay for dystrophin protein, and clinical observation of muscle strength and function
MUST do genetic testing if muscle biopsy +ve

91

indications of a carrier of DMD?

CK levels usually high
usually identified by genetic analysis

92

differentials in DMD presentation?

Becker's muscular dystophy
other myopathies
polymyositis
spinal muscular atrophy, MND, MS

93

when does independent mobility tend to be lost in DMD?

around 8-11 yrs of age

94

How can origin of congenital hypotonia be divided?

CNS-most common, often assoc. microcephaly
Peripheral e.g. Spinal muscular atrophy, also often joint contractures
NMJ e.g. Congenital myasthenia
Muscle e.g. Muscular dystrophies

95

What would we like to examine in a baby with hypotonia?

Head circumference-microcephaly assoc. with CNS causes
Developmental assessment
Muscle tone
Reflexes
Pulling to sit
Posture in prone and supine positions
Antigravity movements
Visual following and alertness

96

what 1 investigation would you like to do in a child with specific language delay?

hearing test

97

what is holoprosencephaly?

failure of prosencephalon to develop into 2 hemispheres so brain structure is single lobed and there are severe facial and skull defects.

98

investigations for suspected NAI?

blood tests including full clotting profile
skeletal survey to look for fractures
paediatric ophthalmoscopy to llok for retinal haemorrhages-sign of head trauma
CT head

99

why is facial bruising in a baby under 6 months of concern?

worry about child abuse as baby immobile so no mechanism of causing this injury to themselves.

100

give 6 specific steps you would take as a doctor on call seeing a pt you suspect has NAI?

inform a senior
take a brief history, don't ask leading questions
full examination, check all body back and front
document findings clearly-hx, examination, body chart diagram showing location of injuries, include my name, date and time, and signature.
contact social services by phone
admit child, pending on advice from social services
arrange tests-bloods including clotting, CT head, ophthalmoscopy and skeletal survey

101

lead agency dealing with child protection?

social services

102

features of tuberous sclerosis?

hamartomas-benign disorganised growth of tissues throughout the body, (hardened swellings) mainly affecting skin,brain and kidneys, but eyes, heart and lungs also often involved.
epilepsy (growth between white and grey mater, cortical tubers) and neurological problems
skin and teeth-facial angiofibromas, hypomelanotic macules, shagreen patch (irrregular area of thickened skin-CT naevi)
renal angiomyolipomas
cardiac rhabdomyomas
learning difficulties, autism, ADHD

103

causes of microcephaly?

microcephaly=head circumference below 2nd centile
causes:
familial-present from birth, development often normal
an autosomal recessive condition-will be assoc. with developmental delay
due to a congenital infection
acquired after insult to developing brain e.g. perinatal hypoxia, hypoglycaemia or meningitis, often accompanied by seizures and cerebral palsy.

104

causes of macrocephaly?

macrocephaly=head circumference above 98th centile
causes:
familial macrocephaly
tall stature
raised ICP-if head circumference enlarging and crossing centile lines must check for raised ICP with intracranial USS if anterior fontanelle still open, or CT/MRI.
hydrocephalus
chronic SD haematoma
cerebral tumour
neurofibromatosis
cerebral gigantism (sotos syndrome)
CNS storage disorders e.g. mucopolysaccharidosis (Hurler syndrome)

105

what name is given to the premature fusion of cranial sutures which can distort head shape?

craniosynostosis:
usually localised
most often affects sagittal suture, causing a long narrow skull
if lamboid fusion, must distinguish from plagiocephaly-asymmetric flattening of 1 side of skull from positional moulding
may feel or see fused suture as a palpable ridge
can treat surgically if raised ICP or for cosmetic reasons