Paediatric Neurology and Disability Flashcards
Developmental milestones.
- ## Gross motor:
- ## Fine motor and vision:
- ## Speech and hearing:
- ## Social and behavioural:
Primitive reflexes.
-
Cerebral palsy.
a) Define
b) Types
c) Causes
d) Presentation
e) Investigations
f) Management
a) Non-progressive lesion and permanent disorder of movement and/or posture and of motor function
b) Spastic, athetoid (dyskinetic), ataxic, mixed
c) - General: vascular, hypoxic-ischaemic, teratogenic, genetic, infection, toxins, metabolic or trauma
- Prenatal: preterm birth, teratogens, infection, twins,
- Perinatal: hypoxic-ischaemic encephalopathy (HIE), LBW, neonatal sepsis
- Postnatal: meningitis, trauma, intracranial haemorrhage, kernicterus, hypoxia, seizures
d) - Early: low APGAR score, FTT
- Developmental delay: not walking by 18 months, abnormalities of tone, persisting primitive reflexes, hand preference before 1 year, speech and hearing problems, social and behavioural issues
- Seizures
- Learning disability, ASD, ADHD
- MSK issues: contractures, scoliosis, toe-walking gait (equinus gait)
e) - Clinical diagnosis
- Bloods to exclude differentials: lactate, pyruvate, organic and amino acids
- ?imaging - MRI
f) - Multidisciplinary input
- Conservative: OT, PT
- Medications: antispastics (eg diazepam, baclofen, botox)
- Surgical: MSK (contractures, deformities)
Daydreaming
a) Differentials
b) Pathognomonic feature of absences on EEG
c) Investigations
a) - Simple daydreaming
- Absence seizures
- Sensorineural loss: hearing, vision
- Cognitive impairment
- Pseudoseizures post-NAI
- Brain tumour
b) 3 Hz spike-and-wave discharges seen in a child during an absence seizure
c) If appropriate:
- Audiology
- Child development clinic
- EEG
- Neuroimaging
- ECG
Epilepsy in children.
a) Common types in children (with features)
b) Risk factors, and seizure triggers
c) Main differentials for seizures
d) Investigations and management
e) What antiepileptics can exacerbate myoclonic seizures and absences?
f) DVLA rules on seizures: in all cases, recurrent GTC seizures, first seizure, simple seizures
a) - Infantile spasms (West syndrome): Salaam attacks, appear shortly after birth, M>F, Hyps arrhythmia on EEG
- Absence: short (<30 second), stare blankly, flutter eyelids, lose awareness, rapid recovery
- Generalised tonic-clonic
- Juvenile myoclonic: early morning myoclonic jerks, may develop GTC seizure, clumsy
b) - RFs: FHx, febrile seizures, infection (meningo-encephalitis), malformations (eg hamartomas - tuberous sclerosis), trauma, metabolic and electrolyte causes
- Triggers: watching TV, lack of sleep
c) - Breath-holding spells: blue spells/reflex-anoxic seizures)
- Night terrors: 6-8 yrs, suddenly awaken, wide-eyed, screaming, and inconsolable, no memory next day
- For absences: daydreaming, hearing loss, LD, ADHD
d) - ECG to exclude cardiac cause
- Urine and serum biochemistry and infection
- EEG (usally after 2nd seizure): use hyperventilation or photic stimulation
- Neuroimaging if before age 2
- Education, safety assessment (DVLA?)
- 1st line: valproate (or ethosuximide in absences)
e) Lamotrigine and carbamazepine
f) - In all cases of epilepsy, the DVLA must be notified
- > 1 GTC seizure while awake: seizure-free for 12 months
- First seizure: seizure-free for 6 months (or 12 months if deemed at risk of further seizures)
- GTC seizures only happen while asleep: you may be allowed to drive
- Simple seizures: you may be allowed to drive provided you can evidence that no control of vehicle is lost and that you have full awareness during seizure
Febrile seizures.
a) Define
b) Causes - main 3/ others
c) Types
d) Investigations
e) Management - general
f) Management - status
g) Main differentials: clinical features
a) Seizures occurring in children 6 months - 5 years old, associated with fever (>37.8 C), without other underlying cause such as CNS infection or electrolyte imbalance
b) - Majority: viral infections, tonsillitis, otitis media
- Others: gastroenteritis, post-immunisation
c) - Simple: GTC seizures lasting < 15 mins, with no recurrence in 24 hours or within the same febrile illness.
- Complex: 1) > 15 mins, or 2) > 1 seizure, or 3) focal onset
- Febrile status: seizure > 30 mins (treat if seizure > 5 mins)
d) - A-E: airway management, oxygen, IV access, glucose level, fluids, +/- ABx (think status management)
- Septic screen: FBC, urinalysis, CRP, culture, LP (if < 18m, complex seizure, no obvious focus, worry about meningitis)
- Other bloods: glucose, UEs/creatinine, calcium, etc.
- Imaging: CT head, CXR
e) - Exclude serious pathology
- Generally can be managed at home: fluids, keep cool (no excess clothing), antipyretics, first aid for seizure, call 999 if seizure lasts > 5 mins
f) - A-E: airway support, oxygen, IV access
- Check blood glucose
- If still seizing > 5 mins: rectal diazepam (repeat after 5 mins if no response)
- If meningitis suspected: IM benpen/ IV cefotaxime
f) - Rigors
- Meningococcal disease: systemically unwell, irritable, or drowsy before seizure; signs - neck stiffness; petechial rash, photophobia; Kernig’s sign; Brudzinski’s sign; bulging fontanelle; reduced GCS
- Hypoglycaemia/ other metabolic (e.g hypocalcemia)
- Epilepsy
- Head injury
Strabismus (squints): causes
a) Concomitant vs incomitant
b) Congenital vs acquired
c) Direction of gaze
d) Risk factors
e) Presentation
a) Concomitant/non-paralytic (defect does not vary with direction of gaze) and incomitant/paralytic (defect varies with gaze direction - more serious)
b) Onset before/after 6 months of age
c) Exotropia (outward), esotropia (inward), hypertropia (upward), hypotropia (downward)
d) - Congenital: chromosomal (eg Down’s), cerebral palsy, SOL, infection, kernicterus, hypoxic ischaemia
- Acquired: SOL, stroke, thyroid eye disease
e) Parental concern, diplopia, refractive error (anisometropia - refractive error different in each eye), amblyopia (late - unresolved strabismus)
Strabismus: management
a) Assessment
b) Management
a) Gross inspection, light reflex, cover test
b) - Referral to eye clinic (orthoptics)
- Correct any refractive error
- Amblyopia: patch/ cyclopegic drops
- If these fail - surgical correction
Breath-holding spells.
a) Give the 2 types and the common presentation and triggers for each
b) Causes
c) How would you investigate and manage these children?
d) What should you advise parents to do during an attack?
a) - Blue breath-holding spells:
Occurs after intense crying in response to pain, frustration, anger or fear. Child involuntarily holds breath on expiration, goes blue and may lose consciousness, which could result going stiff or floppy for < 1 minute. May be tired afterwards
- Reflex-anoxic seizures:
Occurs usually after a sudden shock (eg fall with minor head injury). Child will often open their mouth as if to cry, but make no sound before turning a deathly pale grey colour and losing consciousness. May go stiff, floppy or jerking, with eye rolling. May be tired afterwards
b) - Vagus nerve overstimulation leads to reduced HR/pauses, which explains blue/grey spells and the hypoxia can cause seizure activity
- May be caused by iron-deficiency anaemia
c) - Thorough history to exclude epilepsy
- ECG to exclude cardiac arrhythmia
- FBC and ferritin to test for Fe2+ anaemia
- Management: reassurance, treat any anaemia, if severe can try anticholinergics (eg. atropine, hyoscine, glycopyrronium)
d) Make sure they are safe (no head injury, cushion), roll onto side, allow them to shake and avoid interference
- May be able to distract them at start of spell to prevent LOC/seizure activity
Down syndrome: clinical features
a) Facial features - NOB A PLEB
b) Other clinical features
N - Nasal bridge flat O - Oblique palpebral fissure B - Brushfield spots in the iris A - Arched palate (high) P - Protuding tongue L - Low set ears E - Epicanthic folds B - Brachycephaly
b) - Neuro - hypotonia, LD, epilepsy, hearing loss
- Eye - cataracts (congenital - loss of red reflex), refractive error, strabismus
- Neck - hypothyroid, loose skin
- MSK - single palmar crease, short hands, short and curved little finger (kleinodactyly), sandle gap, deformities (eg scoliosis)
- GI - duodenal atresia (double bubble), pyloric stenosis, Hirschsprung’s
- CV - AVSD, other congenital HD (ToF, PDA)
- Haem - infection risk, leukaemia risk (ALL, AML)
- Alzheimer’s disease (early-onset)
Down syndrome.
a) Risk factors
b) Prenatal screening
a) Maternal age, FHx
b) ?
ASD.
a) What is it?
b) Diagnostic criteria
c) Management
a) Developmental disorder characterised by impairment of social functioning
b) - Onset before the age of 3
- Abnormalities in all 3 of the following areas:
1. Reciprocal social interaction
2. Communication
3. Behaviours - restricted, stereotyped, repetitive
c) Non-drug (no pharmacological interventions in ASD).
- Parent training
- Early intensive behavioural interventions
- Communication support - SALT
- Occupational therapy
- Music/ art therapy
ADHD.
a) What is it?
b) Diagnostic criteria
c) Non-drug management
d) Drug management (and side effects)
a) Neurodevelopmental disorder characterised by hyperactivity, impulsivity and/or inattention
b) - Onset before 12 years of age (usually age 3 - 7)
- Occur in 2+ settings such (eg. at home and school)
- Present for at least 6 months.
- Interfere with, or reduce the quality of, social, academic or occupational functioning.
- Not the result of another mental disorder
c) Non-drug.
- Parent training
- Family therapy
- School assistance
- CAMHS support
d) Drug.
- Methylphenidate (amphetamine-like: appetite suppression, psychosis, misuse)
- Atomoxetine (liver dysfunction, abdominal SEs, suicidality)
