Development and Neurology Flashcards
1
Q
Status epilepticus is defined as
A
continuous seizures lasting >30mins or intermittent clinical/EEG seizures >30mins w/o full recovery of consciousness between seizures
2
Q
After 1* assessment and resus, the priority is to stop status epilepticus by treating any reversible causes like: ___
A
- hypoglycaemia
- electrolyte disturbance
3
Q
Name 3 clinical features of Down’s S.
A
- hypotonia
- flat occiput, flat nasal bridge
- single palmar crease, small mouth, protruding tongue
- incurved 5th finger, small ears, short neck
- wide sandal gap between big and 2nd toes
4
Q
Name some common conditions associated with down’s syndrome that contribute to early mortality:
A
- congenital heart disease e.g. AV canal defects
- duodenal atresia
- hypothyroidism, OSA, epilepsy
- coeliac disease, early onset Alzehimer’s
- increased susceptibility to infections
5
Q
From what 3 cytogenetic abnormalities can Down’s Syndrome arise?
A
- meiotic nondisjuction (94%)
- translocation
- mosaicism
6
Q
How does meiotic non-disjunction in Trisomy 21 occur? An error at meiosis occurs, the chromosome 21 pair fails to ___ so 1 gamete has __ chromosomes 21 and one has __.
A
- separate
- 2
- none
7
Q
What are all pregnant women offered to screen for increased risk of Down’s S?
A
-biochemical test measuring markers in blood
-nuchal thickening on US
(new! NIPT-Non-Invasive Prenatal Testing using cf-dna)
8
Q
Explain how Down’s can arise from Robertsonian translocation
A
-the extra chrsm 21 is joined onto another chrsm (often 14 but could be 12, 22 or 21)
(NB: one parent may carry a balanced translocation)
9
Q
Name patterns of abnormal development (applies to how global and specific can be categorised):
A
-slow but steady
-plateau effect
-regressing (but may not reach normal levels)
NB: severity can be mild/mod/severe/profound
10
Q
Febrile seizures are epileptic seizures accompanied by ___ in the absence of ___ infection. 3% of children between 6mnths-6yrs have these.
A
- a fever
- intra-cranial infection
11
Q
When do febrile seizures often occur? What type of seizure activity are they usually?
A
- following a viral infection when temperature is rising rapidly
- brief generalised tonic clonic
12
Q
What is the risk of children with febrile seizures subsequently developing epilespy? Do they cause brain/intellectual damage? NB: there is a genetic component –> increased risk
A
1-2% (if complex risk increased to 4-12%)
-no
13
Q
Give examples of what could make a febrile seizure be classified as complex?
A
-if it’s prolonged or focal or repeated in the same illness
14
Q
How should febrile seizures be managed? Most are due to a viral illness but what else should be considered?
A
- reassure parents and give advice (first aid vs siezures)
- bacterial infection e.g. meningitis (NB: neck stiffness/photophobia may not be apparent in the v young so may require an infection screen..)
- +/-screen: blood and urine culture, LP
15
Q
In a child with febrile seizures and suspected meningitis, what what be a contraindication for LP and mean abx should be immediately started?
A
- unconsciousness or
- cardiac instability
16
Q
If there is a history of prolonged febrile seizures (>5min) rescue therapy with ___ ____ can be administered.
A
-buccal midazolam
17
Q
Is anti-epileptic meds or EEG indicated for febrile seizures, why
A
-no, they don’t predict/reduce recurrence and the meds have quite a high risk of adverse effects
18
Q
Define cerebral palsy (CP): its an umbrella term for a _____ disorder of ___ and/or posture & motor function due to a non-___ abnormality in the ____ ___.
A
- permanent
- movement
- non-progressive
- developing brain
19
Q
CP affects ~2/1000 births, biggest cause of motor impairment in children. If the brain injury occurs after 2 yrs old, what is it called as opposed to CP?
A
-acquired brain injury
20
Q
The motor disorders of CP is usually evident early but other clinical manifestations emerge over time, such as disturbances in:
A
- cognition
- communication
- vision, perception, sensation
- behaviour, seizure activity, MSK issues
21
Q
What classically causes CP? Give a few e.g.s (NB: <10% are post-natal/from hypoxic injury at birth)
A
- cerebrovascular haemorrhage/ischaemia
- cortical migration disorders, gene deletions
- structural maldevelopment of brain in gestation
22
Q
What are preterm infants with periventricular leukomalacia secondary to ischaemia/&or intra-ventricular haemorrhage vulnerable to developing?
A
cerebral palsy
23
Q
Although rare, name some post-natal causes of CP:
A
- meningitis/encephalitis/encephalitis
- head trauma
- hypoglycaemia
- hydrocephalus, hyperbilirubinaemia
24
Q
What investigation can aid establishing the cause of CP? (but not needed for diagnosis)
A
-brain MRI
25
Name some early features of CP in the neonatal period:
| e.g. asymmetric hand function before 1yr old..
- abnormal limb/trunk posture&tone
- delayed motor milestones
- feeding difficulties, oromotor incoordination, slow feeding, gagging and vomiting
- abnormal gait once walking
26
What (which should disappear for motor development to progress) may persist and become obligatory in an infant with CP?
-Primitive reflexes
27
CP is a clinical diagnosis, what should be closely examined in diagnosis?
- posture
- pattern of tone in limbs and trunk
- hand function
- gait
28
CP can be classified into 4 categories based on neurological features, name these: (3+other)
- spastic (90%) -bilat, unilat or unspecified
- dyskinetic (6%)
- ataxic (4%)
- other
29
In spastic CP where is the damage? So what is this associated with?
- the upper motor neurone, pyramidal or corticospinal tract pathway
- increased limb tone, brisk deep tendon reflexes
- dynamic catch as spasticity is velocity dependent
30
What are the 3 main types of spastic CP?
- unilateral (hemiplegia) - unilat arm and leg, face spared
- bilateral (quadriplegia) - all 4 limbs severely affected and trunk and head
- bilateral (diplegia) - all 4 limbs but legs much worse than arms
31
Unilateral spastic CP often present ~1yo with ___ of affected hand, a __ arm, __ forearm, ___ reaching.
On walking, a __-__ pattern gait on affected side may be seen. Cause may be a neo-natal stroke.
- fisting
- flexed, pronated
- asymmetric
- tip-toe (toe-heel gait)
32
Biilateral spastic CP is severe and often associated with: __, __ and a mod/severe __ ___. May have a hx of perinatal _ _ encephalopathy. Trunk is involved with tendency for __ ___
- seizures, microcephaly
- intellectual impairment
- hypoxic-ischaemic
- extensor posturing (opisthotonus)
33
(Diplegia) Bilateral spastic CP, is when the legs are much worse but still hand __ motor activity is poor. Walking is __. This pattern can be associated with __ birth due to ___ brain damage.
- functional
- abnormal
- pre-term
- periventricular
34
What is dyskinesia?
-involuntary, uncontrolled movements often more evident with active movement/stress
35
What is dyskinetic CPs 3 features of types movements that may be seen?
NB: primitive motor reflex patterns predominate and tone varies
- chorea: irregular sudden, brief, non-repetitive
- athetosis: slow, writhing movements distally e.g. fanning of fingers
- dystonia: simultaneous contraction of agonist and antagonist muscles of trunk, giving a twisting appearance
36
How do children with dyskinetic CP present? NB: intellect can be relatively unimpaired.
- floppiness, poor trunk control
- delayed motor development in infancy
- abnormal movements from 1yo
37
Where is the damage that causes a dyskinetic form of CP?
In the basal ganglia or their pathways (Extra-pyramidal)
38
What are the most common cause of dyskinetic CP?
Hypoxic-ischaemic encephalopathy at birth
| MRI shows bilateral changes mostly in the basal ganglia
39
How should cerebral palsy be managed?
- give parents info early but prognosis is hard to establish early on
- medical, psychological, social support via MDT
40
Name 3 novel treatments to improve hypertonia in CP
-botulinum toxin muscle injections
-dorsal selective rhizotomy (nerve roots cut)
-intrathecal baclofen (muscle relaxant)
=basal ganglia deep brain stimulation
41
What are the most common cause of dyskinetic CP?
Hypoxic-ischaemic encephalopathy at birth
| MRI shows bilateral changes mostly in the basal ganglia
42
How should cerebral palsy be managed?
- give parents info early but prognosis is hard to establish early on
- medical, psychological, social support via MDT
43
Name 3 novel treatments to improve hypertonia in CP
-botulinum toxin muscle injections
-dorsal selective rhizotomy (nerve roots cut)
-intrathecal baclofen (muscle relaxant)
=basal ganglia deep brain stimulation
44
What does global developmental delay imply and when does it usually present?
-delay in acquisition of all skill fields
-in first 2 years of life
NB: likely to be associated with cognitive difficulties
45
When do concerns about motor development usually get noticed? How should they be acted upon? Who is involved?
- between 3months-2yrs
| - assessment by neurodevelopmental paediatrician and physio, involve OT moving forward to
46
Name several possible broad peri-natal causes of developmental delay?
- extreme prematurity (intravent. haemorrhage/peri-vent. leucomalacia)
- birth asphxia
- metabolic e.g. hypoglycaemia , hyperbilirubinaemia (kernicterus)
47
Name several possible broad post-natal causes of developmental delay?
- infection
- anoxia (suffocation, near drowning, seizures)
- trauma (head injury)
- metabolic
- stroke
- maternal nutritional deficiency (breast milk)
48
When do concerns about motor development usually get noticed? How should they be acted upon? Who is involved?
- between 3months-2yrs
| - assessment by neurodevelopmental paediatrician and physio, involve OT moving forward to
49
Name some reasons a child may have a speech and language delay
- global developmental delay
- hearing loss
- difficult in speech production (e.g. anatomical deficit)
- environmental deprivation
50
Speech and language disorders include:
- issues with language _____ and ____ of language. Intelligibility/speech production e.g. __, __, __.
- pragmatics, construction of sentences, semantics, grammar
- and ___/____ (autism spectrum disorder)
- comprehension and expression
- stammering, dysarthria, verbal dyspraxia
- social/communication
51
At roughly what age does autism become apparent? Because this is when ___ skills normally ___.
2-4yrs
| language and social skills rapidly expand
52
Why may a neurodevelopmental paediatrician and paediatric audiological dr be involved with a child suffering disordered speech and language development early on?
-because in early years there is considerable overlap between language and cognitive development
53
What 2 tests (of many) are commonly used to test language development?
- __ test: assess it very early on
- __ test: is for receptive and expressive language in nursery kids
- Symbolic Toy Test
| - Reynell Test
54
Is Aspergers at the mild or severe end of the Autism spectrum
-mild (near-normal speech development, a stilted way of speaking and narrow interests not shared by others)
55
Name some co-morbidities that run with Autism?
- learning/attention difficulties
- seizures
- affective disorders (anxiety, sleep disturbance)
- mental health disorders e.g. ADHD
56
What disorder does this behaviour belong to? "imposition of routines with ritualistic and repetitive behaviour", what may this include?
- Autism
- violent temper if disrupted
- concrete play
- peculiar interests and repetitive adherence
57
Name some co-morbidities that run with Autism?
- learning/attention difficulties
- seizures
- affective disorders (anxiety, sleep disturbance)
- mental health disorders e.g. ADHD
58
Management of autism is difficult, what is currently the best evidence?
-parental support and a behaviour modification approach to reduce ritualistic behaviour, develop language and social skills, but requires ~30hrs/week
59
Suggest 2 causes for abnormal development? What age do they usually present (when acquisition of motor skills is occurring most quickly)
- central motor deficit e.g. cerebral palsy
- congenital myopathy
- spinal cord lesions e.g. spina bifida
- global developmental delay
- presents between 3months-2yrs
60
If a child aged 1 or 2 is using one hand for motor skills, is this normal or not? Why?
ABNORAML
- hand dominance isn't acquired until 2yrs+
- may suggest an underlying hemiplegia
61
Give 2 'benign'/normal reasons a child may do walking late (>18months)
- -children that do bottom-shuffling/commando crawling -> walk later vs crawlers
- children with joint hypermobility achieve walking later
62
How may developmental coordination disorder aka dyspraxia present?
NB: no findings on standard neuro exam
- problems w:
- handwriting
- dressing (buttons, laces..)
- cutting up food, messy eating from difficultly coordinating biting, chewing and swallowing
- dribbling saliva
63
The term 'Dyslexia' (disordered reading skills for child's IQ) is used when the child's reading age is more than __yrs behind their chronological age.
->2yrs behind
64
Disorders of executive function may occur as a consequence of what?
Suggest how it may manifest?
- due to: acquired brain injury (post hypoxia, infection, stroke, trauma...)
- manifest w: poor concentration, forgetfulness, volatile mood, overeating poor social skills
65
State 4 features of ADHD:
- can't sustain attention
- excessively active
- socially disinhibited
- easily distracted
- impulsive
- poor at relationships
- prone to temper tantrums
- poor school performance
66
Name a stimulant used in children with ADHD (usually over 6yrs) that improve attention.
- Methylphenidate
| - Dexamphetamine
67
conductive hearing loss is common in children with glue ear, what 2 pt groups are particularly prone to hearing loss from middle ear disease like this?
- Down's syndrome
- Cleft Palate
- Children with Atopy hx
68
Suggest 3 causes of sensorineural hearing loss in a child:
| clue: think ante/peri/post-natal causes
- genetic
- ante/peri: congenital infection, preterm, HIE. hyperbilirubinaemia
- post: meningitis/encephalitis, head injury, ototoxic drugs, neurodegenerative disorders
69
What happens in strabismus (squint)? There is misalignment of the ___ ____
- common transiently up to 3 months
- what should all children with this have checked? what may an abnormality indicated?
- misalignment of the visual axis
- check for red reflexes (absent=leukocoria-causes include: opacification of intraocular structures, corneal abnormalities or intraocular tumour (!) retinoblastoma)
70
What is the most common cause of strabismus?
| you refer to ophthalmologist and check red reflexes to rule out what?
- most common = refractive error
| - (rule out: cataracts, retinoblastoma/intraocular causes)
71
Squints are divided into concomitant (common) and paralytic (rare) what do these terms mean, and what sort of squints are present?
- concomitant = due to refractive error in 1 or both eyes, correction w glasses often corrects the squint. The squinting eye often turns inwards (converges)
- paralytic = varies w gaze direction due to paralysis of motor nerves, can be sinister due to underlying SOL e.g. brain tumour
72
What simple piece of equipment can a non-specialist use to detect squints? How do you interpret findings as positive for squint. NB: minor ones can be difficult to detect
- pen torch for Corneal Light Reflex Test
- hold at distance, observe reflections on both corneas simultaneously
- if light reflection is not in same position in the 2 pupils, a squint is present
73
What is the most common refractive error in young children? What shape lens correct it (and which side of 0 in terms of prescriptions) NB: these glasses make the eyes look bigger.
- Hypermetropia (long sighted)
| - Convex lens to correct (+)
74
Myopia (short-sighted) is uncommon in children before adolescents, and would be corrected with a concave (-) lens making eyes appear smaller, what pt group of young children are prone to myopia?
Pre-term infants
75
What is amblyopia, what methods are used to improve the condition before 7yrs when improvement becomes unlikely
- potentially permanent reduction of visual acuity in an eye that has not received a clear image
- usually unilateral 2drly to squint, refractive errors or cataracts
- treat: rx underlying condition and periodically wear patch on good eye to force lazy eye to work and develop better vision
76
Primary headaches are thought to be due to a primary malfunction of neurones and their networks, name 3 main groups:
- migraine
- tension-type
- cluster (+other trigeminal autonomic cephalalgias)
77
Secondary headaches mean what? Give 4 examples
- symptomatic of an underlying pathology
- e.g. raised ICP from SOL
- e.g. medication overuse headache
- e.g. head/neck trauma
- e.g. cranial or cervical vascular malformation or intercranial haemorrhage
- e.g. idiopathic intercranial hypertension
- e.g. a substance or its withdrawal e.g. alcohol, drugs
- e.g. meningo-encephalitis
- e.g. hypercapnia, hypertension
- e.g. acute sinusitis
- e.g. associated with emotional disorders
78
Describe a tension headache in 1 sentence:
- symmetrical headache of gradual onset, often described as tightness, a band or pressure
- usually no other sx
79
90% of migraines in children are without aura.
| -describe the headache they can experience and what aggravates/relieves them?
- bilateral (or uni) pulsatile over temporal/frontal area
- often with unpleasant GI disturbance e.g. N&V, abdo pain, photophobia and phonophobia
- aggravated by physical activity, relieved by sleep
80
10% of migraines with aura that children experience is mainly visual aura, describe this and other premonitory sx commonly noted?
remember neurosurg meeting, 2 things to say
- negative phenomena e.g. hemianopia or !!scintillating scotoma
- positive phenomena e.g. !!fortification spectra (zigzag lines)
81
Bouts of migraine are often triggered by a disturbance of inherent biorhythms, give 3 trigger e.g.s
- how long dose one usually last
- is family hx relevant?
- triggers: early rises/late nights, stress/winding down after stress, certain foods, menstruation and COCP in girls
- lasts 1hr -> 3days
- yes, genetic predisposition
82
A rare dominantly inherited migraine disorder caused by a calcium channel defect, leads to what familial disorder?
-Familial Hemiplegic Migraine
83
A rare migraine disorder with vomiting, nystagmus and/or cerebellar signs is known as what?
-Basilar-type migraine
84
Suggest worrying features of a secondary headache which would make you ?brain tumour SOL in either hx or exam:
- worse lying down
- morning vomiting or confusion
- can cause night-time waking
- change in mood, personality or educational performance
- visual field defects, CN abnormalities, abnormal gait...
85
What is Acute Symptomatic Epileptic Seizures? Give 3 examples of them
NB:: they do NOT constitute an epilepsy
-provoked epileptic seizures via acute cortical brain injury/insult at time of the trauma/illness
-e.gs: stroke, traumatic brain injury, intracranial infection, hypoglycaemia, hypoCa2+, hypoMg2+, hypo/hyperNa+, poison/toxin
-
86
Epilepsy (disorder predisposing to unprovoked epileptic seizures - excessive, hypersynchronous electrical activity in cortex) can be genetic (80%) or due to structural/metabolic damage, give 3 e.gs of what pathology would predispose to this?
- cerebral dysgenesis
- cerebral vascular occlusion
- cerebral damage from congenital infection or HIE, intraventricular haemorrhage/ischaemia
- cerebral tumour
- neurodegenerative disorders
- neurocutaneous disorders e.g. tuberous sclerosis
87
Viral labyrinthitis in children is one cause of what primary headache condition associated with recurrent episodes lasting 1-7mins, nystagmus, unsteadiness or falling.
-Benign Paroxysmal Vertigo
| occurs without warming, resolves spontaneously
88
What's the difference between generalised and focal epilepsy?
- Generalised: discharge arises from both hemispheres e.g. absence, myoclonic, tonic, atonic, tonic-clonic...
- Focal: where seizures arise from one or part of one hemisphere, manifestations depend on the part of brain discharge originates and moves to
89
Give an example of how frontal seizures may present (focal)?
NB: these involve the motor or pre-motor cortex...can be asymmetrical... can -> ____ March... or upper limbs in what position..?
-can -> clonic movements that travel proximally aka Jacksonian March or tonic seizure with both arms raised high for seconds
90
Suggest 2 ways focal temporal seizures may manifest?
| Q: what behaviours can be seen following spread to the pre-motor cortex
- strange warning feelings/aura with smell and taste abnormalities
- distortions of sound and shape
- automatisms: lip-smacking, pulling at one's clothing, walking in a non-purposeful manner
- Deja-vu
- Impaired conciousness
91
Suggest how a focal occipital seizure may manifest?
-stereotyped visual hallucinations
92
What can focal parietal lobe seizures cause?
- contralateral dysaesthesias (altered sensation)
| - or distorted body image
93
Why is an ECG done in all children with seizures esp. convulsive ones? What important abnormality are you looking for on ECG that if missed can be fatal?
- -convulsive syncope due to an arrythmia
| - e.g. long-QT syndrome can --> fatality
94
For most childhood epilepsies, brain imaging is required, sclerosis in which part of the brain associated with which focal lobe seizure is visible on MRI FLAIR sequences and can sometimes be cured surgically?
-mesial temporal sclerosis causing temporal lobe seizures
95
Are generalised seizures associated with a warning/aura?
NO
also note:
-symmetrical seizure
-bilaterally synchronous seizure discharge on EEG
96
Suggest how the decision to treat or not treat epilepsies in childhood weighed up?
AED = Anti-Epileptic Drugs
- risk of recurrence (seizure type. epilepsy type, frequency)
- social and educational consequences of the seizures vs. possibility of SEs of AED
- how dangerous/impairing
- how upsetting further seizures would be
- in the context of the child's life
97
Children with prolonged epileptic seizures with loss of consciousness >5mins are given rescue therapy to keep with them, this is usually what?
Buccal Midazolam
98
Apart from juvenile absence or myoclonic epilepsy, (in which case AED should continue indefinitely), all AED therapy for children can be stopped after how long a period of being seizure free?
-After 2 years
99
```
What is the 1st line treatment for:
-generalised seizures:
-focal seizures:
NB: 2nd line for both = same (Clobazam)
Remember our mneumonic!
```
```
VAL-LET (general)
CAR LAMP (focal)
```
- gen: valproate, (levetiracetam)
- focal: carbamazepine, (lamotrigine)
100
Give one SE for the following 3 drugs, note all can cause drowsiness:
- valproate
- carbamazepine
- lamotrigine:
- valproate: weight gain, hair loss, teratogenic, (idiosyncratic liver failure)
- carbamazepine: rash, hypoNa+, ataxia, liver enzyme inducer so many interactions
- lamotrigine: rash, insomnia, ataxia
101
In children with intractable epilepsy, some other rx can be trialled..
- what diet can help?
- stimulation of the afferent branch of which nerve?
- surgery: one is a _____lobectomy due to what underlying cause?, others are focal resections of disconnection of what?
- ketogenic (low-carb, fat-based diet)
- vagal nerve stimulation
- temporal lobectomy due to mesial temporal sclerosis
- hemispherotomy (disconnect hemispheres)
102
What should be avoided in children with epilepsy due to seizure carrying a risk of injury/death in that scenario?
- avoid deep baths (showers better)
- do not swim unsupervised
- for adolescents, must be seizure free for 1 yr before driving
NB: educate about precipitation of seizures by alcohol or poor sleep routines
103
Infantile Spasms aka West Syndrome, onset in 1st year of life, rx with vigabatrin + steroids, what is the seizure pattern?
-violent flexor spasms of head, trunk and limbs followed by extension of arms, lasts 1-2seconds, often multiple bursts (x20-30)
104
Lennox-Gastaut Syndrome onset is 1-3yrs old, EEG: generalised spike and wave, poor prognosis, name 2 other features of this condition relating to seizure, development and behaviour?
- mostly atonic or subtle absence seizures and tonic seizures in sleep
- neurodevelopmental arrest or regression
- behavioural disorder
105
Compare and contrast childhood absence epilepsy and juvenile absence epilepsy:
- childhood: age 4-12yrs, sudden onset, lasts seconds, child has no recall, can be induced by hyperventilation, 80% go by adulthood
- juvenile: age 10-20yrs, absences and gen tonic-clonic often +photosensitivity, good response to rx but needed lifelong, remission unlikely
106
Give a classical history for juvenile myoclonic epilepsy, (Clue: remember what time of day these are predominant)
-age 10-20yrs, myoclonic/gen ton-clonic/absences most occur shortly after waking
-e.g. hx: throwing drinks or cereal about in the morning due to myoclonus
(NB: response to rx good but needed lifelong as remission unlikely)
107
Status Epilepticus rx:
4 steps:
Start with high flow oxygen and checking glucose
- IV Lorezepam or buccal midazolam at 5min
- again IV Lorezepam at 15min
- if no response IV phenytoin or if already taking it, IV phenobarbital at 25mins
- call anaesthetics
- if nothing, induction of anaesthesia with thiopental sulphate at 45mins
