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a Paediatrics by themes > Neurology and Mental Health > Flashcards

Neurology and Mental Health Flashcards

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1
Q

Define Somatisation.

A

Communication of emotional distress, troubled relationships, and personal predicaments through bodily symptoms.

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2
Q

What are the signs and symptoms of somatisation?

A
  • Recurrent abdominal pain (peak age 9yo) → sharp and colicky
    • Affects 10% of school-aged children
    • Majority of cases have no organic cause
    • Apley’s rule → “the further the pain from the umbilicus, the more likely the pain is of an organic nature”
  • Recurrent headaches (peak age 12yo)
  • Limb pain
  • Aching muscles
  • Fatigue
  • Neurological symptoms (>12yo)
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3
Q

What are the appropriate investigations for somatisation?

A

Diagnosis of exclusion

  • Full physical examination
  • Full, detailed history (especially social) → school, friends and family, timeline of pain
    • Can be done alone (no parents)
    • Reports from school can be useful
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4
Q

What is the management of somatisation?

A
  • 1st line
    • Promote communication between family and child (and school if necessary)
    • Pain-coping skills → i.e. relaxation techniques
  • 2nd line (if 1st line fails or serious family dysfunction / impaired general functioning)
    • Referral to CAMHS
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5
Q

What is a breath-holding attack?

A

Toddler is upset/angry/frustrated → cries and holds breath → goes blue, lose consciousness and goes limp

  • Attacks resolve spontaneously
  • Drug therapy unhelpful - manage with behaviour modification and distraction
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6
Q

What is a reflex anoxic seizure?

A

Episodes due to cardiac asystole due to vagal inhibition → child becomes pale and falls to floor ± general tonic clonic fitting → brief seizure and rapid recovery

  • Triggers = pain, head trauma, cold food, fright, fever
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7
Q

Define Febrile Convulsion.

A

A seizure and fever in the absence of intracranial infection → 6m to 3yo - shouldn’t occur in older children

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8
Q

What are the signs and symptoms of febrile convulsion?

A

Brief, generalised tonic-clonic seizure on background of fever

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9
Q

What are the chances of epilepsy following a febrile convulsion?

A
  • Simple febrile seizure = No brain damage → No increases risk of epilepsy
  • Complex febrile seizures → focal, >15 minutes, repeated in same illness = Increased risk 4-12% of subsequent epilepsy
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10
Q

What are the appropriate investigations following a seizure?

A
  • Identify any cause - if indicated
    • Screen for meningitis/encephalitis
    • Urine MC&S if infection source unclear
    • Blood glucose
  • Temperature - febrile convulsion
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11
Q

What is the management immediately after a febrile seizure?

A
  • Admission for
    • First febrile seizure
    • <18 months old
    • Diagnostic uncertainty surrounding the cause
    • Complex febrile / Status epilepticus
    • Currently on Abx
  • Parental Education
    • Not the same as epilepsy
      • Simple = no further risk of epilepsy
      • Complex = slightly increased risk of epilepsy
    • 33-50% will have another febrile convulsion
      • If recurrent = educate on how to give medication
    • Continue routine immunisations
    • Regular paracetamol and ibuprofen
    • Do not try and cool the child
    • Adequate fluid intake
    • Seek advice if prolonged fever
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12
Q

Define Epilepsy.

A

A disease characterised by an enduring predisposition to generate epileptic seizures and by the neurobiological, cognitive, psychological and social consequences of the condition.

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13
Q

Define Seizure.

A

Transient occurrence of signs or symptoms due to abnormal excessive or synchronous activity in the brain.

  • Focal / Partial = start in one part of the brain
  • Generalised = more distributed, affect both hemispheres of the brain
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14
Q

What are the risk factors for epilepsy?

A
  • Genetic predisposition
  • Perinatal asphyxia
  • Metabolic disorders
  • Trauma
  • Structural CNS abnormalities
  • Complex febrile seizures
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15
Q

What is important to classify during a seizure?

A
  • Where seizures begin in the brain
    • Focal
    • Generalised
    • Focal to bilateral
    • Unknown
  • Level of awareness
    • Focal aware (awareness intact)
    • Focal impaired
    • Awareness unknown (unwitnessed)
    • Generalised (presumed to affect awareness)
  • Other features of seizure
    • Focal onset:
      • Motor onset → twitching, jerking, stiffening, automatisms
      • Non-motor → cognitive, emotional, sensory
    • Generalised onset:
      • Motor → tonic (stiffening) and clonic (jerking) = “Grand Mal”
      • Non-motor → absence, brief changes in awareness ± automatic/repeated movements
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16
Q

What are the signs and symptoms of absence seizures?

A
  • Brief impairment of consciousness - 5-10 seconds
  • Behavioural arrest or staring → interrupts normal activity
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17
Q

What are the signs and symptoms of tonic-clonic seizures?

A
  • Patient falls unconscious ± Preceding aura
  • Violent muscle contractions and shaking
    • Eyes may roll back
    • Tongue biting
    • Incontinence
  • Post-ictal phenomena
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18
Q

What are the signs and symptoms of myoclonic seizures?

A
  • Brief arrhythmic muscular jerking movements
  • Last a few seconds, sudden jerking or twitching
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19
Q

What is Benign Rolandic epilepsy?

A
  • Seizures of face / upper limbs during sleep with hypersalivation and speech arrest → AKA Sylvian seizures
  • Affects children aged 3-12yo seizures – outgrown at end of puberty
  • Most common childhood epilepsy
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20
Q

What is Juvenile myoclonic epilepsy?

A
  • Seizures usually involving neck, shoulders, upper arms, most occur after waking up
  • Begin around puberty - 12-18yo
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21
Q

What is Progressive myoclonic epilepsy?

A
  • Rare syndromes that combines myoclonic and tonic-clonic
  • Patient deteriorates over time
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22
Q

What is the management of epilepsy?

A
  • MDT management - paediatrician, neurologist, epilepsy nurse, school nurse, GP
  • Referral to Neurologist after 1st fit - for advice
    • How to recognise a seizure
    • Video record future seizure
    • Avoid dangerous activities (i.e. swimming)
    • Seek help if another seizure before referral
  • Appropriate Antiepileptic Drug Choice
    • Not all children will require antiepileptics - risk vs reward
    • Appropriate AED for seizure and epilepsy type - some make the seizures worse
      • Lamotrigine → exacerbate myoclonic seizures
      • Carbamazepine → exacerbate absence seizures
    • Monotherapy at lowest dose
    • Rescue therapy for prolonged epileptic seizures (convulsive with loss of consciousness >5 minutes)
      • Buccal midazolam
    • AED therapy may be discontinued after 2 years free of seizures
    • Generalised
      • Tonic-Clonic = Valproate
        • 2nd line = lamotrigine, carbamazepine, oxcarbazepine
      • Absence = Valproate or Ethosuximide
        • 2nd line = lamotrigine
      • Myoclonic = Valproate
        • 2nd line = levetiracetam, topiramate
    • Focal = Carbamazepine or Lamotrigine
      • 2nd line = levetiracetam, oxcarbazepine, valproate
  • Intractable epileptics
    • Ketogenic diets
    • Vagal nerve stimulation
    • Surgery → if well-localised structural cause
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23
Q

What are the sides effects of valproate?

A
  • Weight gain
  • Hair loss
  • Rare idiosyncratic liver failure
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24
Q

What are the sides effects of carbamazepine?

A
  • Rash
  • Neutropoenia
  • Hyponatraemia (SIADH)
  • Ataxia
  • Inducer
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25
What are the sides effects of lamotrigine?
Steven-Johnson syndrome
26
What are the sides effects of levetiracetam?
Sedation - rare
27
Define Status Epilepticus.
* 1 epileptic seizure lasting \>5 minutes * ≥2 seizures within a 5-minute period without the person returning to normal between them * 1 febrile seizure lasting \>30 minutes
28
What is the management of status epilepticus?
1. **High-flow oxygen and Glucose** 2. 5 mins = **IV Lorazepam or buccal Midazolam or recatl Diazepam** 3. 15 mins = **IV Lorazepam + Call for senior help + Prepare Phenytoin** 4. 25 mins = **ICU advice + Phenytoin** (if already on = phenobarbitone) **+ Consider rectal Paraldehyde** 5. 45 mins = **Rapid Sequence Induction of Anaesthesia with Thiopental/Thiopentone**
29
What are the signs and symptoms of an extradural haemorrhage?
* Lucid interval followed by deterioration of consciousness and seizures * Potential focal neurological signs * Dilatation of ipsilateral pupil * Paresis of contralateral limb * Anaemia * Shock
30
What are the signs and symptoms of skull fracture?
Associated with tear of middle meningeal artery * Battle sign * Racoon eyes
31
What are the appropriate investigations for a suspected extradural haemorrhage?
CT Head
32
What is the management of an extradural haemorrhage?
* **Fluid resuscitation** → correct hypovolemia * Evacuation of haematoma and arrest bleeding = **Neurosurgery**
33
What are the signs and symptoms of subdural haemorrhage?
* Gradually decreasing GCS * No lucid interval → just gradually decreasing * Potential retinal haemorrhages
34
What is associated with subdural haemorrhage?
Characteristically **NAI** with shaking of a baby or direct trauma
35
What are the signs and symptoms of subarachnoid haemorrhage?
* Acute onset head pain * Neck stiffness * Fever * Seizures or coma * *Rare in children → causes is often aneurysm or AVM*
36
What are the appropriate investigations for suspected subarachnoid haemorrhage?
* **Head CT** * Avoid LP → increased ICP
37
What is the management of subarachnoid haemorrhages?
**Neurosurgery** or **Interventional radiology**
38
Define Developmental Delay.
Taking longer to reach developmental milestones than would be expected for children their age.
39
What are the causes of developmental delay?
* Genetics – Cerebral palsy, Down’s syndrome * Epilepsy * Infection * Malabsorption disorders / Eating disorders – coeliac, IBD * Metabolic causes – hypothyroidism * Learning difficulties – Autism, ADHD, learning disabilities * Depression & anxiety
40
What are the signs and symptoms of developmental delay?
* Isolated developmental delay in one domain * FHx of delay/syndrome * Global delay * Dysmorphic features
41
What are the appropriate investigations for suspected developmental delay?
* Metabolic, genetic, infection screen * IQ test * ASD or ADHD testing
42
What is the management of developmental delay?
* MDT – SALT, OT, PT, family counselling, behavioural intervention, educational assistance * Manage associated conditions * Prognosis → usually good if isolated but global delay has high association with syndromes with poor prognosis
43
What are the types of muscular dystrophy?
* Duchenne - *most common* * Becker * Myotonic
44
What is the pathophysiology of Duchenne muscular dystrophy?
* X-linked recessive - mainly affects males * 1/3rd have *de novo* mutations though * Deletion of dystrophin gene * Connects cytoskeleton of muscle fibres to ECM through cell membrane * Where deficient → influx of Ca2+ → calmodulin breakdown → excess free radicals → myofibre necrosis
45
What are the signs and symptoms of Duchenne muscular dystrophy?
* Symptoms start at 1-3yo → 5yo diagnosis → no longer ambulant by 10yo → medial life expectancy 35yo * **Developmental delay - persistent waddling gait, language delay** * Toe-walking * Mount stairs one-at-a-time * Decreased tone and power * Run slowly, tire quickly * **Affects larger muscle \> smaller muscles** * **Gower’s sign** → the need to turn prone to rise * **Pseudohypertrophy of calves** - *replacement of muscle fibres by fat and fibrous tissue* * **Primary dilated cardiomyopathy**
46
What are the appropriate investigations for suspected Duchenne muscular dystrophy?
* Clinical history and examination * Plasma Creatine kinase phosphate = elevated – *due to myofibre necrosis* * EMG * Genetic testing * Biopsy
47
What are the signs and symptoms of Becker muscular dystrophy?
* Same signs and symptoms as DMD but often less severe and progresses at a slower rate * Learn to walk a little later than usual * Muscle cramps after exercise * Struggle with sports at school * As they age, they struggle with lifting objects * Can walk into their 40s and 50s but then require a wheelchair * **Developmental delay - persistent waddling gait, language delay** * Toe-walking * Mount stairs one-at-a-time * Decreased tone and power * Run slowly, tire quickly * **Gower’s sign** → the need to turn prone to rise * **Pseudohypertrophy of calves** - *replacement of muscle fibres by fat and fibrous tissue* * **Primary dilated cardiomyopathy**
48
What is the management of Duchenne muscular dystrophy?
*No cure, often management is to alleviate the symptoms:* * **Physiotherapy** → to clear lungs * **Exercise** → help prevent contractures * **Psychological support** * Medical: * **CPAP** → weakness of intercostal muscles can cause nocturnal hypoxia → daytime headache, irritability, etc. * **Glucocorticoids** → delay need for wheelchair * **Cardioprotective drugs** (carvedilol) → preservation of left ventricular ejection fraction * Surgery (PRN): * **Tendoachilles lengthening** * **Scoliosis surgery**
49
What is the pathophysiology of Myotonic muscular dystrophy?
* **Autosomal dominant trinucleotide repeat disorder** * Genetic anticipation → gets worse/earlier onset as the gene is passed down generations * Varied life expectancy - from death at neonatal age in severe forms to normal life expectancy
50
What are the signs and symptoms of myotonic muscular dystrophy?
* Most common adult-onset (20s to 30s) muscular dystrophy * **Muscles contract and are unable to relax** * **Progressive muscle loss and weakness** - smaller muscles \> larger muscles - reverse of Duchenne’s * **Cataracts** * Heart problems * Abnormal intellectual functioning * Myotonia
51
Name some trinucleotide repeat disorder?
* Fragile X (CGG) * Huntington's (CAG) * Myotonic dystrophy (CTG) * Friedreich's ataxia (GAA) * Spinocerebellar ataxia * Spinobulbar muscular atrophy * Dentatorubral pallidoluysian atrophy
52
What are the causes of infantile spasm (west syndrome)?
* Symptomatic (any disorder causing brain damage) * Prenatal conditions * Genetic syndromes * Hypoxic/ischaemic/trauma brain damage * Congenital infections * Idiopathic
53
What are the signs and symptoms of infantile spasm?
* **Spasms** – *sudden, rapid, tonic contraction of trunk and limb muscles with gradual relaxation over 0.5-2 seconds* * “Salam attacks” – head goes down and arms go up in the air * Looks like ‘colic’ * Contractions last 5-10 seconds * From gentle nodding of the head to powerful movements of the body * Occur in clusters, usually associated with waking or before sleeping * **Psychomotor delay** * **Hyperpigmented skin lesions** * **Growth restriction** * Peak incidence at 3-8 months
54
What are the appropriate investigations for suspected infantile spasm?
**EEG** → hypsarrhythmia– disordered activity in the brain
55
What is the management of infantile spasm?
* Vigabatrin * Corticosteroids * *Poor prognosis*
56
What is the cause / aetiology of vasovagal syncope?
* Emotional * Fear * Pain * Shock * Sudden sounds or sights * Orthostatic * Prolonged standing * Crowds * Hot
57
What are the signs and symptoms of vasovagal syncope?
* Brief LOC * Spontaneous recovery * No signs of seizure activity * Link to trigger
58
What are the appropriate investigations for suspected vasovagal syncope?
* Lying and standing BP with ECG if indicated *(i.e. query cardiac cause)* * FBC *(rule out anaemia ± bleeding)*
59
What is the management of vasovagal syncope?
* Avoid triggers * Lie down flat to avoid fainting
60
What is the grading system for intraventricular haemorrhage?
* **Grade I** – bleeding just in germinal matrix → *most common; no further complications* * **Grade II** – intraventricular bleeding (but no enlargement) * **Grade III** – intraventricular bleeding with enlargement ventricles * **Grade IV** – bleeding extends into brain tissue around ventricles * Grade I and II are more common and have no complicsations * Grade III and IV can lead to long-term brain injury * Blood clots can form which can lead to secondary hydrocephalus * 50% with progressive post-haemorrhagic ventricular dilatation → cerebral palsy in later life
61
What is periventricular leukomalacia?
Bilateral multiple cysts * 80-90% risk of spastic diplegia - Cerebral Palsy * Periventricular white matter damage → difficult to detect → if cystic lesions become evident 2-4w later on USS, there is a definite loss of white matter
62
What are the causes of intraventricular haemorrhage in neonates?
* *More often in premature babies due to VLBW and LBW* * ECMO in preterm babies with severe RDS * Congenital CMV infection
63
What are the signs and symptoms of intraventricular haemorrhage?
* **Sleepiness** * **Lethargy** * Apnoea * Reduced/absent Moro reflex * Low tone * Tense fontanelle
64
What are the appropriate investigations for suspected intraventricular haemorrhage?
Trans-fontanelle USS
65
What is the management of intraventricular haemorrhage?
* Fluid replacement * Anticonvulsant * Acetazolamide *(reduce CSF)* ± LP * Ventriculo-peritoneal Shunt *(if hydrocephalus)*
66
What are the types of hydrocephalus?
* **Communicating** → flow of CSF is obstructed after it exits the ventricles * Meningitis (pneumococcal, TB) * SAH * **Non-communicating** → flow of CSF is obstructed within the ventricles * Congenital → *Aqueduct stenosis (often of cerebral aqueduct (3rd to 4th ventricles) blocked)* * *Dandy-Walker malformation (4th ventricle enlarged with no outlets)* * *Chiari malformation (cerebellar tonsils displaced down through foramen magnum)* * Acquired → *Aqueduct stenosis* * *IVH (preterm infants; grade 3 or 4)* * *Tumour*
67
What are the signs and symptoms of hydrocephalus?
* **Acute** * Vomiting * Irritable * Impaired consciousness * **Chronic** * FTT * Developmental delays * **Increased head circumference** * **Sunset sign** – *eyes appear to be driven down bilaterally* * Tense fontanelle * Increased tone * Papilloedema * Ataxic gait * 6th nerve palsy
68
What are the appropriate investigations for suspected hydrocephalus?
* Cranial USS * Measure head circumference
69
What is the management of hydrocephalus?
* **1st line** = **Ventriculoperitoneal shunt** * May require removal of obstruction * Sometimes, endoscopic treatment to create a ventriculostomy is performed * **Medical = Furosemide** (inhibit CSF production)
70
What counts as episodic and chronic migraines?
* Episodic = \<15 days/month * Chronic = ≥15 days/month
71
What are the signs and symptoms of tension headaches?
* Symmetrical headache * Gradual onset * “Tight band”
72
What are the signs and symptoms of migraines?
Without aura = 90% migraines Aura = 10% migraines: * Without aura * 1-72hrs * Bilateral or unilateral * Pulsatile temporal * GI symptoms * Worse with physical activity * With aura * Aura → visual, sensory or motor * Few hours * FHx * Trigger (stress, foods) * *Maybe no headache* * FHx of migraine
73
What are the signs and symptoms of cluster headaches?
* Unilateral (eye, side of face) * Sharp/burning/throbbing - *suicide headache* * Watery/swollen eye/face * Occur in clusters
74
What are the signs and symptoms of secondary headaches?
* Visual field defects * Gait or cranial nerve abnormalities * Growth failure * Papilloedema
75
What are the appropriate investigations for headaches?
None → unless a red flag symptom
76
What is the management of headaches?
* Medical education: * Headaches are common * No long-term harm * Medications * **Analgesia** - ibuprofen \> paracetamol * **Anti-emetics**: * 6+ = cyclizine * 12+ = prochlorperazine, metoclopramide * *2nd line: codeine phosphate* * **Serotonin 5HT1 agonists** * 12+ = triptans (sumatriptan)
77
What is the specific management of migraines?
* **Assess the severity and frequency of attacks, and the impact on the patient's life** * **Identify cause** → emotional problems, general health, etc. * Consider headache diary (8 weeks) * Optician referral * Consider psychiatry referral * Weight, height, BP * Acute Management (in 12-17-year olds): * Step 1: **Simple analgesia** * Step 2: **Nasal sumatriptan** - *oral cannot be used in people \<18yo* * Step 3: **Combination nasal triptan and NSAID/paracetamol** * **Consider anti-emetics** * **Follow-up in 1 month** * Prophylaxis: * Topiramate (risk of foetal malformations) * Propranolol (not in asthmatics)
78
What are Tic's.
Fast, repetitive muscle movements that result in sudden and difficult to control body jolts or sounds. * Common, appear around 5yo, not usually serious, most disappear by adulthood * May come and go over several years * 1 in 3 won’t have tics as an adult, 1 in 3 have mild tics, 1 in 3 will have severe tics
79
What psychiatric conditions are associated with tic's?
**OCD** and **ADHD**
80
What is Tourette's?
Chronic and multiple tics → no cure * Tics must begin before 18yo * Must persist for longer than 1 year * Exclude any other cause
81
What are the signs and symptoms of a tic disorder?
* Brought about by triggers → focussing on them can make them worse * **Different types** * Blinking * Clicking fingers * Coughing / Grunting * Repeating sound or phrase
82
What is the management of tic disorders?
* **Self-help** - *sleep and stress management, don’t draw attention to tic, don’t tell child off for it* * **Habit reversal therapy** - *learn movements to "compete" with tics, so tics can't happen at the same time* * **Exposure with response prevention / ERP** - *help the child get used to the unpleasant sensations* * Medications: * **1st line = antipsychotics** * 2nd line * Clonidine – *treat tics and ADHD at the same time* * Clonazepam * Tetrabenazine – *treats tics that are caused by an underlying condition (i.e. Huntington’s)* * IM Botulinum toxin – *only last \<3m* * Surgery = **deep brain stimulation therapy** *(for severe Tourette’s syndrome)*
83
Describe Neurofibromatosis Type 1.
* Autosomal Dominant **Mutation in NF1 gene** – *50% are a de novo mutation* * High penetrance with variable expression * 1 in 3,000 live birth
84
What is the difference between neurofibromatosis type 1 and 2?
* Like NF1 but more internal/hidden signs * Less common * Presents in adolescence * Bilateral acoustic neuromas ± Deafness * Cerebellopontine angle syndrome with facial nerve paresis * Cerebellar ataxia
85
What conditions are associated with neurofibromatosis?
* MEN2 * Phaeochromocytoma - VHL, MEN2 * Pulmonary HTN * RAS with HTN
86
What are the signs and symptoms of neurofibromatosis type 1?
* **≥6 café au lait spots** - \>5mm pre-puberty, \>15mm post-puberty * Cutaneous features more prominent after puberty * **\>1 neurofibroma** – firm nodular overgrowth of nerve * **Axillary freckles** * **Optic glioma ± visual impairment** * **One Lisch nodule** – *hamartoma of iris (on slit-lamp exam)* * **Bony lesions** from spheroid dysplasia ± eye protrusion * **First degree relative with NF1**
87
Describe Tuberous Sclerosis.
Rare genetic condition causing mainly benign tumours to develop in different parts of the body * Genetic mutation in TSC1 or 2 genes * 1 in 9,000, AD → 70% new mutations
88
What are the signs and symptoms of tuberous sclerosis?
* Cutaneous * Woods lamp → Ash patch * Shagreen patches * Angiofibromata * Neurological * Infantile spasms * Developmental delay * Epilepsy * Intellectual disability → often with ASD * Nodules → subependymal giant cell astrocytoma → non-communicating hydrocephalus * Subungual fibromata * Dense white areas on retina * Rhabdomyomata of heart * Angiomyolipoma
89
What are the appropriate investigations for suspected tuberous sclerosis?
* **CT scan** → calcified subependymal nodules and tubers from 2+ years * MRI
90
What is Sturge-Weber syndrome?
Sporadic haemangiomatous facial lesion (port-wine stain) disorder in distribution of the trigeminal nerve * Lesion intracranially = ipsilateral leptomeningeal angioma * Ophthalmic division of trigeminal nerve always involved
91
What are the signs and symptoms of Sturge-Weber syndrome?
* **Haemangiomatous facial lesion (port-wine stain)** * Epilepsy (may benefit from hemispherotomy) * Intellectual disability * Contralateral hemiplegia * Glaucoma (50%) * Phaeochromocytoma
92
What are the appropriate investigations for suspected Sturge-Weber syndrome?
MRI

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