Neurological Disorders Flashcards
1
Q
How do we classify headaches?
A
- Primary
- Secondary
- Cranial neuralgias, central and primary facial pain, and other headaches (rare in children)
2
Q
What are examples of primary headaches?
A
- Migraine
- Tension-type headache
- Cluster headache and other trigeminal autonomic cephalalgias
- Other primary headaches
3
Q
What are examples of secondary headaches?
A
Headache attributed to:
- Non-vascular intracranial disorder – raised intracranial pressure, idiopathic intracranial hypertension
- Medication overuse
- Head and/or neck trauma
- Cranial or cervical vascular disorder – vascular malformation or intracranial haemorrhage
- A substance or its withdrawal – alcohol, solvent or drug abuse
- Infection – meningitis, encephalitis, abscess
- Disorder of homeostasis – hypercapnia or hypertension
- Disorder of facial or cranial structures – acute sinusitis
- Associated with emotional disorders
4
Q
What are examples of Cranial neuralgias, central and primary facial pain, and other headaches (rare in children)
A
- Trigeminal and other cranial neuralgias and central causes of facial pain
- Other headaches
5
Q
Describe the presentation tension type headaches.
A
o Symmetrical
o Gradual onset
o Described as ‘tightness’, a band or pressure
o Usually NO other symptoms
6
Q
Describe the presentation of migraines without aura. How common are they?
A
o 90% of migraines
o Can last between 1 and 72 hrs
o Headache is often bilateral but can be unilateral
o Characteristically pulsatile over the temporal or frontal area
o Often accompanied by GI disturbance (e.g. nausea, vomiting, abdominal pain)
o Photophobia and phonophobia
o Aggravated by physical activity and relieved by sleep
7
Q
Describe the presentation of migraines with aura. How common are they?
A
o 10% of migraines
o Headache is preceded by a unilateral aura (visual, sensory or motor)
o Aura can occur without a headache
o Features are the absence of problems between episodes and the frequent presence of premonitory symptoms (tiredness, difficulty concentrating, autonomic features, etc.).
o Common auras include visual disturbances:
▪ Negative phenomena - hemianopia, scotoma (small areas of visual loss)
▪ Positive phenomena - fortification of spectra (zigzag lines)
o Rarely, it may cause unilateral sensory or motor symptoms (e.g. hemiplegic migraine)
o Attacks usually last a few hours
o Children will prefer to lie down in a quiet, dark room
o Migraines have a genetic predisposition
o Bouts can be triggered by disturbances of inherent biorhythms (e.g. late nights, early rises, stress, foods (e.g. cheese, chocolate, caffeine) and in females mentruation and OCP
8
Q
What are the uncommon forms of migraines?
A
- familial hemiplegic migraine – caused by a calcium channel defect, dominantly inherited
- sporadic hemiplegic migraine
- migraine with brainstem aura – vomiting with nystagmus and/or cerebellar signs
- periodic syndromes – often precursors of migraine and include:
- cyclical vomiting – recurrent stereotyped episodes of vomiting and intense nausea associated with pallor and lethargy. The child is well in between episodes
- abdominal migraine – an idiopathic recurrent disorder characterized by episodic midline abdominal pain in bouts lasting 1–72 hours. Pain is moderate to severe in intensity and associated with vasomotor symptoms, nausea, and vomiting. The child is well in between episodes
- benign paroxysmal vertigo of childhood – is characterized by recurrent brief episodes of vertigo occurring without warning and resolving spontaneously in otherwise healthy children. Between episodes, neurological examination, audiometric and vestibular function tests are normal.
9
Q
Describe the clinical features of raised ICP.
A
- Headaches due to a space-occupying lesion are worse when lying down.
- morning vomiting is characteristic.
- The headaches may also cause night-time waking.
- There is often a change in mood, personality, or educational performance.
Other features suggestive of a space-occupying lesion are:
- visual field defects – from lesions pressing on the optic pathways, e.g. craniopharyngioma (a pituitary tumour)
- cranial nerve abnormalities causing diplopia, new-onset squint or facial nerve palsy. The VIth (abducens) cranial nerve has a long intracranial course and is often affected when there is raised pressure, resulting in a squint with diplopia and inability to abduct the eye beyond the midline. It is a false localizing sign. Other nerves are affected depending on the site of lesion, e.g. pontine lesions may affect the VIIth (facial) cranial nerve and cause a facial nerve palsy
- abnormal gait
- torticollis (tilting of the head)
- growth failure, e.g. craniopharyngioma or hypothalamic lesion
- papilloedema – a late feature
- cranial bruits – may be heard in arteriovenous malformations but these lesions are rare
- early or late puberty
- change in personality or academic ability.
10
Q
Describe the clinical features of medication overuse headaches.
A
Patients with primary headaches, especially migraine, are at risk of developing a rebound “chronic daily headache” (technically, headache on 15 or more days a month) if they have a bad patch and use acute analgesics or triptans on more than 2 days a week.
Withdrawing the offending medication will resolve this in about 2 weeks.
11
Q
What are red flag symptoms?
A
12
Q
What are the investigations of headaches?
A
Thorough history and examination
Imaging unnecessary unless red flag features
13
Q
What is the criteria for diagnosing migraine without aura?
A
Criteria for migraine without aura (most common)
o > 5 attacks fulfilling features below
o Lasts 4-72 hours
o At least two of following features
▪ Bilateral or unilateral (frontal/temporal) location
▪ Pulsating
▪ Moderate – severe intensity
▪ Aggravated by routine physical activity
o At least one of following accompanies:
▪ Nausea and/or vomiting
▪ Photophobia and phonophobia
14
Q
What is the criteria for diagnosing tension-type headaches?
A
o At least 10 previous episodes fulfilling below features
o Headache lasting 30 mins – 7 days
o At least two of following features
▪ Pressing/tightening (non-pulsating) quality
▪ Mild – moderate intensity (may inhibit but does not prohibit activity)
▪ Bilateral
▪ No aggravation by routine physical activity
o Both of following
▪ No nausea or vomiting
▪ Phobophobia and phonophobia, or one, but not the other is present
15
Q
What should we inform patient about regarding headaches?
A
- Efforts should be made to make a specific headache diagnosis.
- Children or young people and parents should be informed that recurrent headaches are common, that for most there are good and bad spells, with periods of months or even years in between the bad spells, and that they cause no long-term harm.
- Written child-friendly information for the family to take home is helpful.
- Children and young people should be advised on how to live with and control the headaches, rather than allowing the headaches to dominate their lives. There is nothing medicine can do to cure this problem but there is much it can offer to make the bad spells more bearable.
16
Q
What are the options for treating headaches?
A
Rescue Treatments
o Analgesia (paracetamol and NSAIDs)
o Antiemetics (prochlorperazine)
o Triptans: ONLY NASAL preparations are licensed in < 18yrs
o Physical treatments (e.g.cold compress, warm pads, topical forehead balms)
Prophylactic Treatments
o Sodium channel blockers (topiramate, valproate)
o Beta-blockers (propranolol)
- CONTRAINDICATED in asthma
o Tricyclics (pizotifen)
o Acupuncture
Psychosocial Support
o Psychological support (identify stressors)
o Relaxation and other self-regulating techniques
17
Q
How should migraines be managed?
A
• Assess the severity and frequency of attacks, and the impact on the patient’s life:
o Quality of attacks- intensity and site of pain, associated symptoms
o Timing and frequency when they start, reason for consultation, how often they occur, temporal pattern, how long they last, time off school
o Possible causes-suspected triggers or emotional problems(e.g.bullying)
o Other factors- general health in between attacks
Consider using a headache diary for a minimum of 8 weeks to identify triggers
Acute Management (in 12-17 year olds)
o Step 1: Simple analgesia (paracetamol or ibuprofen)
Only consider aspirin if > 16 (risk of Reye’s syndrome)
o Step 2: Nasal sumatriptan
NOTE: oral triptans are NOT licensed in people < 18 years
o Step 3:Combination therapy with nasal triptan and NSAID/paracetamol Consider adding anti-emetic e.g. metoclopramide or prochlorperazine
o Arrange follow-up within 1 month, but ask them to return sooner if symptoms get worse
Prophylactic Treatment
o Offer topiramate or propranolol–specialist referral required
NOTE: topiramate has a risk of foetal malformations
18
Q
How should you manage tension headaches?
A
Reassure that this is not a concerning cause of headaches
Offer simple analgesia (paracetamol, ibuprofen, aspirin) for acute treatment
o Do NOT offer aspirin to <16-year-olds due to risk of Reye’s syndrome
o Do NOT offer opioids
• Consider course of up to 10 sessions acupuncture over 5-8 weeks for prophylactic treatment of chronic tension type headache in over 12-year-olds.
19
Q
Define seizures.
A
A seizure is a paroxysmal abnormality of motor, sensory, autonomic and/or cognitive function, due to transient brain dysfunction
20
Q
How are seizures classified?
A
Epileptic and non-epileptic.
21
Q
What are the types of seizures?
A
o Epileptic
o Syncopal (anoxic)
o Brainstem (hydrocephalic, coning)
o Emotional
o Functioning (psychogenic pseudo-seizures)
22
Q
Define epileptic seizure.
A
seizures due to excessive and hypersynchronous electrical activity, typically in neural networks in all or part of the cerebral cortex
23
Q
Define convulsion.
A
a seizure (epileptic or non-epileptic) with motor components
24
Q
What are the types of convulsions?
A
▪ Stiff (tonic)
▪ Massive jerk (myoclonic)
▪ Jerking (clonic)
▪ Trembling (vibratory)
▪ Thrashing about (hypermotor)
▪ Non-convulsive seizures can manifest as motor arrest (e.g. unresponsive state in absence seizure) or drop attack (epileptic atonic seizure)
25
Define epilepsy.
Brain disorder that predisposes individual to have unprovoked epileptic seizures i.e. a tendency to recurrent, unprovoked seizures
Generally, epilepsy is recognised after 2 or more unprovoked epileptic seizures have occurred
o One unprovoked seizure and a probability of further seizures similar to the general recurrence risk (at least 60%) after 2 unprovoked seizures, occurring over the next 10 years
26
What are acute symptomatic epileptic seizures? What causes them?
▪ When epileptic seizures are provoked by an acute brain injury e.g. acute cortical ischaemia during stroke
▪ Causes
• Stroke
* Traumatic brain injury
* Intracranial infarction
* Hypoglycaemia, hypocalcaemia, hypomagnesaemia, hyponatremia/hypernatremia
• Poisons/toxins
▪ Do not constitute an epilepsy
27
What is the incidence and prevalence of epilepsy?
Epilepsy has an incidence of about 0.05% (less common during first year of life) and a prevalence of 0.5%.
28
What are the causes of epilepsies?
**Genetic** (70%–80%) – also called ‘idiopathic’, caused by alleles at several loci together rather than a single gene, so inheritance is ‘complex’
**Structural, metabolic:**
* Cerebral dysgenesis/malformation
* Cerebral vascular occlusion
* Cerebral damage, e.g. congenital infection, hypoxic–ischaemic encephalopathy, intraventricular haemorrhage/ischaemia
* Cerebral tumour
* Neurodegenerative disorders
* Neurocutaneous syndromes, e.g. tuberous sclerosis
29
What are the epilepsy seizure types?
o Generalised
▪ Discharge arises from both hemispheres
▪ Includes absence, myoclonic, tonic, spasms, tonic-clonic, atonic
▪ Loss of consciousness
o Focal
▪ Seizures arise from one or part of one hemisphere
▪ Consciousness may be retained or lost
▪ Could evolve to a secondary generalised tonic-clonic seizure
30
What do manifestations of focal seizures depend on?
Depends on where the discharge originates
31
Describe frontal seizures
▪ Involves the motor and pre-motor cortex
▪ May lead to clonic movements
▪ Clonic movements may travel proximally (Jacksonian march) or a tonic seizure with both upper limbs raised for several seconds.
▪ Asymmetrical tonic seizures may be seen
32
Describe frontal seizures
▪ Involves the motor and pre-motor cortex
▪ May lead to clonic movements
▪ Clonic movements may travel proximally (Jacksonian march) or a tonic seizure with both upper limbs raised for several seconds.
▪ Asymmetrical tonic seizures may be seen
33
Describe temporal lobe seizures.
▪ Strange warning feelings or aura with smell and taste abnormalities
▪ May be distortions of sound and shape
▪Seizures last longer than absence seizures
▪ Consciousness may be impaired
▪ Deja-vu feelings are described
▪Lip-smacking, plucking at one's clothing and walking in a non- purposeful manner (automatisms) may be seen after spread to the pre- motor cortex
34
What are the clinical features of occipital seizures?
▪ Stereotypical visual hallucinations
35
What are the features parietal lobe seizure?
▪ Contralateral dysaesthesias (altered sensation)
▪ Distorted body image
36
Summarise the types of epileptic seizures.
37
What are the epilepsy syndromes?
o Infantile spasms (West syndrome)
o Lennox-Gastaut syndrome
o Childhood absence epilepsy
o Benign Rolandic epilepsy
o Panayiotopoulos syndrome
o Juvenile absence epilepsy
o Juvenile myoclonic epilepsy
38
When does West syndrome present? What gender is It more common in? What is it associated with?
▪ Typically presents in first 4-8 months of life
▪ More common in males
▪ Often associated with serious underlying condition and poor prognosis
39
What are the clinical features of west syndrome?
Characteristic ‘salaam’ attacks: flexion of head, trunk and arms followed by extension of arms
Lasts only 1-2 seconds but may be repeated up to 50 times
Progressive mental handicap
40
What are the investigations of west syndrome?
EEG: shows hypsarrhythmia in 2/3
CT: diffuse or localised brain disease in 70% e.g. tuberous sclerosis
41
What is the management of west syndrome?
Treatment is mainly with **corticosteroids** e.g. prednisolone or **vigabatrin**
Infantile spasms have a POOR prognosis with loss of skills, learning disabilities and continuing epilepsy
42
What are the investigations for epilepsy?
Based on history
Clinical examination should involve looking for skin markers of neurocutaneous syndromes
Investigations are carried out to look for other causes of seizures
**ECG**
o Should be done in ALL children with seizures
o You do NOT want to miss convulsive syncope due to an arrhythmia (e.g. long-QT syndrome)
**• EEG**
o Inter-ictal EEG can help categorise the epilepsy type and severity
o If seizures frequent, ictal EEG can make diagnosis
o If standard interictal EEG is normal, a sleep or sleep-deprived record can be used
o Other techniques: 24 hour ambulatory EEG, 5-day video telemetry EEG
**Brain Imaging**
o Structural
▪ MRI and CT are required routinely in childhood epilepsies
▪ MRI fluid-attenuated inversion recovery (FLAIR) sequences are better at detecting mesial temporal sclerosis in temporal lobe epilepsy, which can sometimes be surgically cured o Functional
▪ Abnormal metabolism may be suggestive of epileptogenic zones
▪ PET and SPECT can detect hypometabolism in epileptogenic lesions
▪ Ictal SPECT can locate hypermetabolism during seizures
**Other investigations**
o Metabolic investigations indicated if there is developmental arrest or regression, or seizures are related to feeds or fasting
o Genetic tests also becoming useful for epileptic encephalopathies
• Note: diagnosis of epilepsy is often uncertain so plan must be put in place to ensure child safety until more information is available
43
How should we think about managing epilepsy?
* Refer to a neurologist after first epileptic seizure
* ADVICE
* **Epilepsy specialist nurse** may assist families by providing education and continuing lifestyle advice
* Consider treatment
* **Antiepileptic Drug (AED) Therapy**
* **Choice of AED**
* **Side effects**
* **Other tx options**
44
What advice should be given to patients with epilepsy?
o Advise parents and carers how to recognise a seizure
o Advise parents to record any future episode of possible seizures (e.g. video)
o Advise that the patient avoid dangerous activities until the diagnosis is confirmed(e.g. swimming, bathing)
o Advise the parent to seek help if another seizure occurs before the referral
* It is a tendency to have unprovoked seizures
* Aim to promote independence and confidence
* The school should be made aware of the condition
* Situations where having a seizure could lead to injury or death should be avoided (e.g. deep baths, swimming unsupervised)
* Driving is only allowed after 1 year free of seizures
Information is available from self-help groups and organizations such as Epilepsy Action.
Children with epilepsy do less well educationally, with social outcomes and with future employment than those with other chronic illnesses such as diabetes.
Two-thirds of children with epilepsy go to a mainstream school, but some require educational help for associated learning difficulties. One-third attend a special school, but they often have multiple disabilities and their epilepsy is part of a severe brain disorder. A few children require residential schooling where there are facilities and expertise in monitoring and treating intractable seizures.
45
When should anti epileptic drugs be given in epilepsy?
Decisions on treating epilepsy is dependent on the risk of recurrence, how dangerous or impairing the seizures are and how upsetting further seizures would be to the patient's life
Treatment is NOT usually given for **childhood rolandic epilepsy**
Treatment of childhood absence epilepsy is aimed at maximising their educational potential and supporting social development
**Antiepileptic Drug (AED) Therapy**
o Not all children with epileptic seizures require AED
o Decisions to treat should be based on seizure type, epilepsy type, frequency and social/educational consequences against the possibility of unwanted effects of antiepileptic drugs
o Choose an appropriate AED for the seizure and epilepsy (e.g. carbamazapine can make absence and myoclonic seizures worse)
o Monotherapy should be used,at the minimum dosage required to prevent seizures, to reduce the risk of adverse effects
o **All AEDs** have potential adverse effects
o AED levels are not checked regularly but may be measured to check adherence
o Children with **prolonged epileptic seizures** (convulsive seizures with loss of consciousness \> 5 mins) are given **rescue therapy** to keep with them - This is usually **buccal midazolam**
o AED therapy may be **discontinued** after 2 years free of seizures
46
How should you decide which anti epileptic drug should be used?
**Generalised**
* **Tonic-Clonic**
* **1st line: Sodium valproate** for boys and girls who are not of childbearing potential. Otherwise, offer **lamotrigine**
* Alternatives:carbamazepine,oxcarbazepine
* NOTE: these can exacerbate myoclonic (lamotrigine) and absence (carbamazepine and oxcabazepine) seizures
* Adjunctive treatment: clobazam, lamotrigine, levetiracetam, valproate, topiramate
* **Absence**
* **1st line: ethosuximide** (preferred for girls of childbearing potential) **or valproate**
* Alternative: lamotrigine
* Adjunctive treatment: consider a combination of 2 of these 3 - ethosuximide, lamotrigine, valproate
* **Myoclonic**
* **1st line: valproate**
* Alternatives: levetiracetam, topiramate
* Adjunctive treatment: levetiracetam, valproate, topiramate
**Focal**
* **1st line: carbamazepine, lamotrigine** (preferred for girls of childbearing potential)
* Alternatives: levetiracetam, oxcarbazepine, valproate
* Adjunctive therapy: carbamazepine, clobazam, gabapentin, lamotrigine, oxcarbazine, **valproate, topiramate**
47
Fill out the side effects table.
48
What are the other treatment options in children with interactable epilepsies?
• **Other treatment options in children with intractable epilepsies**
o Ketogenic diets (low carb, fat based)
o Vagal nerve stimulation
o Surgery (only in children with epilepsy that has a well localised structural cause
49
Define muscular dystrophies.
This is a group of inherited disorders with progressive muscle degeneration
50
How common is Duchenne Muscular Dystrophy (DMD)? How is it inherited?
Most common
X-linked recessive inheritance
o 1/3 have de novo mutations
Affects 1 in 3000-6000 male infants
51
What is the pathophysiology of DMD?
Occurs due to the deletion of the gene for **dystrophin**, which connects the cytoskeleton of a muscle fibre to the surrounding extracellular matrix through the cell membrane
When dystrophin is deficient→there is an influx of Ca ions, a breakdown of the calcium-calmodulin complex and an excess of free radicals→leads to myofiber necrosis
There is high plasma **creatine kinase**
52
What are the clinical features of DMD?
Progressive proximal muscle weakness from 5 years
Children may present with a waddling gait and/or language delay
o Mount stairs one by one
o Run slower than peers
Average age of diagnosis is 5 years but can become symptomatic earlier
Gower’s sign positive: must turn prone to rise
Pseudohypertrophy of calves: due to replacement of muscle by fat and fibrous tissue
53
What is the prognosis of DMD?
## Footnote
o In early school years, tend to be slower and clumsier than peers
o 1/3 have learning difficulties
o Scoliosis is common complication
o Often not walking after 10-14 years
o Life expectancy: 20-30 years
▪ Death usually due to respiratory failure or associated cardiomyopathy
54
What are the investigations of DMD?
Serum creatine kinase: 50-100x normal level
Genetic testing
Others
o EMG
o Muscle biopsy: shows absence of dystrophin in DMD
▪ Diminished quality or quantity of dystrophin in Becker’s
55
What is the management of DMD?
* **Physiotherapy** and splinting of the ankles helps prevent contractures
* **Exercise** and **psychological support** are necessary
* Tendoachilles lengthening and **scoliosis surgery** may be required
* **Glucocorticoids** (e.g. prednisolone) may help delay wheelchair dependence
* **Ataluren** is a drug that restores dystrophin synthesis and has conditional licensing for patients 5 years and over
* **Dietician** for gastric feeding indicated in some patients. Vitamin D and calcium supplementation may be necessary to prevent and treat bone fragility.
* Weakness of intercostal muscles may lead to nocturnal hypoxia
* This presents with daytime headache, irritability and loss of appetite
* **Overnight CPAP** may be indicated for respiratory support
* If the left ventricular ejection fraction drops, cardioprotective drugs (e.g. carvedilol) and left ventricular assist devices may be considered
Innovative molecular genetic therapies are becoming available, including exon-skipping drugs, which can bypass the effect of some mutations leading to the production of a small amount of dystrophin, and a milder phenotype.
56
How does Becker Muscular dystrophy differ to DMD? How is it similar?
* X linked recessive
* Allelic with Duchenne muscular dystrophy
* I.e. it is caused by different mutations in the same gene
* Some functional dystrophin is produced
* Similar features to Duchenne muscular dystrophy
* Disease is milder and progresses more slowly
* Average age of onset: **11 years**
* Loss of ambulation: **20-30 years**
* Life expectancy: **middle to old age**
57
Define myotonia.
Myotonia is delayed relaxation after sustained muscle contraction
Can be identified clinically and via EMG
58
How common in myotonic muscular dystrophy? How is it inherited?
Relatively COMMON
Autosomal dominant
59
What is the mutation in myotonic muscular dystrophy?
Caused by a nucleotide triplet repeat expansion - CTG in the DMPK gene
60
What is the presentation of myotonic muscular dystrophy in neonates?
o Hypotonia
o Feeding difficulties
o Respiratory difficulties
o Thin ribs
o Talipes
o Oligohydramnios
o Reduced foetal movements in pregnancy
61
What is the presentation of myotonic muscular dystrophy in older children? and in adults?
Older children can present with a myotonic facial appearance, learning difficulties and myotonia
Adults develop cataracts, and males develop baldness, testicular atrophy and T2DM
62
What does death occur due to in myotonic muscular dystrophy?
Death occurs due to cardiac conduction defects
63
What are the investigations for myotonic muscular dystrophy?
The definitive test for myotonic dystrophy is **a genetic test**. For this test, a blood sample is taken to identify the altered gene (mutation) within the chromosomes which are contained within the white blood cells. Gene alterations in two genes - CNBP and DMPK - cause myotonic dystrophy
64
What is the management of myotonic muscular dystrophy?
* Multi-system disorder requiring MDT management
* Management issues
* Muscle involvement:
* **Physiotherapy** (Strength and flexibility training),
* **Occupational therapy** (Specially designed utensils for hand weakness, wristbraces),
* Orthopaedic (Ankle–foot arthroses for foot-drop)
* Monitor for deformities.
* Muscle pain: NSAIDs, Gabapentin etc
* Myotonia: **Mexiletine** with careful supervision (used be treated with quinine or procainamide in the past)
* Difficulties swallowing and dysarthria due to muscle weakness: SALT
* Cardiac disturbances: Refer to cardiologists
* Respiratory function and sleep:
* Noninvasive positive airway pressure ventilation (NIPPV) may be useful in correcting apnoea
* Infants with congenital muscular dystrophy require continuous ventilatory support
* Cataracts: Surgery
* Genetic counselling: For antenatal diagnosis.
* Psychological support: For parent and child
65
What are the 4 types of intracranial haemorrhage?
1. Epidural/extradural - between dura mater and skull
2. Subdural - in subdural space, between dura and arachnoid mater
3. Subarachnoid - between the arachnoid and Pia mater
4. Intracerebral - within brain
66
Define extradural haemorrhage.
Bleeding and accumulation of blood in extradural space – between dura mater and skull
67
What causes an extradural haemorrhage?
Usually follows head trauma
o Often associated with skull fracture of temporal or parietal bones→tearing of the middle meningeal artery and vein as it passes through the foramen spinosum of the sphenoid bone
o Typically after trauma to temple just lateral to eye (the pterion region)
Can also be due to tear in a dural venous sinus
68
What are the risk factors of extradural haemorrhage?
Risk factors: bleeding tendency e.g. haemophilia, anticoagulant use
69
What are the clinical features of extradural haemorrhage?
Head injury with temporary loss of consciousness/drowsiness→followed by lucid interval (resolved consciousness levels)→followed by progressive deterioration in conscious levels, as ICP rises
Seizures secondary to inc size of haematoma
Focal neurological signs
o Dilation of ipsilateral pupil
o Paresis of contralateral limbs
o False localising unilateral or bilateral VIth nerve palsies
Note: in young children, the presentation may be anaemia or shock
70
What are the investigations of extradural haemorrhage?
• Non-contrast CT head
o Check for haematoma
o May also get coup-contrecoup injury
o Look for features of raised ICP e.g. midline shift
71
Extradural haemorrhage
72
Whats the management of extradural haemorrhage?
Correct hypovolaemia
Urgent evacuation of haematoma
Arrest bleeding
73
Define subdural haematomas.
A collection of blood that develops between surface of brain and dura mater
74
What causes subdural haematomas?
Characteristic lesion in non-accidental injury caused by shaking or direct trauma in infants and toddlers
o Usually due to rapid acceleration and deceleration of brain
o Retinal haemorrhages are typical of shaking injury
Usually seen following a fall from a considerable height
• Rarely, subdural haematomas may occur with brain shrinkage or overdrainage of hydrocephalus
75
Subdural haematoma
76
What is the management of subdural haematoma?
Consider NAI due to shaking
Treatment dependent on size and clinical signs
o Small–conservative
o GCS \<9 with large haematoma or midline shift–surgical
77
Define subarachnoid haemorrhage.
Arterial haemorrhage into the subarachnoid space
78
How common is SAH?
**Much more common in adults**
79
What causes SAH?
o Usually due to rupture of a saccular aneurysm at the base of the brain (Berry aneurysms)
o Other causes: perimesencephalic haemorrhage, arteriovenous malformations, bleeding diasthesis, vertebral artery dissection
o In paediatrics, cause is usually aneurysm or AV malformation (identified on MR angiography, CT or conventional angiography)
80
What are the RFs of SAH?
o Bleeding disorders
o Saccular aneurysms are associated with
▪ Polycystic kidney disease
▪ Coarctation of the aorta
▪ Marfan’s syndrome
▪ Ehlers-Danlos syndrome
▪ SLE
81
What are the clinical features of SAH?
Sudden onset worse headache ever (thunder clap headache)
V omiting
Confusion or lowered consciousness level
Sometimes, seizures and coma
82
What are the investigations of SAH?
CT scan head – hyperdense areas in basal regions of skull (blood)
Sometimes, LP may be needed
o Inc opening pressure
o Inc RBCS
o CSF is uniformly bloody early on then becomes xanthrochromic - straw coloured CSF due to breakdown of red blood cells
83
SAH
84
What is the management of SAH?
Neurosurgical or interventional radiology for surgical clipping and coil embolisation
85
Define hydrocephalus.
In hydrocephalus, there is an accumulation of CSF in the brain
86
What causes hydrocephalus?
Types of hydrocephalus
**o Communicating aka non-obstructive**
▪ Caused by impaired CSF reabsorption in the absence of any obstruction of CSF flow between the ventricles and the subarachnoid space i.e. the obstruction is at the arachnoid villi (site of CSF reabsorption)
o Subarachnoid haemorrhage
o Meningitis e.g. pneumococcal, tuberculous
**o Non-communicating aka obstructive**
▪ Caused by obstruction of CSF flow within the ventricular system or aqueduct
o Congenital malformations
▪ Aqueduct stenosis
▪ Atresia of the outflow foramina of the fourth ventricle
▪ Chiari malformation (cerebellar tonsils herniate through foramen magnum)
o Posterior fossa neoplasm or vascular malformation o Intraventricular haemorrhage in preterm infant
87
What are the clinical features of hydrocephalus?
In infants, as the skull sutures have NOT fused, the head circumference will be disproportionately large or show an excessive rate of growth
The anterior fontanelle bulges and scalp veins become visible
Fixed downward gaze (aka sunset sign) is an advanced sign
Older children will develop signs and symptoms of raised ICP
88
What are the investigations of hydrocephalus?
May be diagnosed on antenatal screening
Cranial ultrasound in preterm infants
CT or MRI
Head circumference should be monitored and plotted on a centile chart
89
What is the management of hydrocephalus?
Treatment is needed for symptomatic relief of raised ICP and to minimise the risk of neurological damage
Insertion of a **ventriculoperitoneal shunt** (VP shunt)
o Shunts can malfunction due to blockage or infection (coagulase-negative staphylococcus) → often require replacement or revising
Sometimes, endoscopic treatment to create a ventriculostomy is performed
Over-drainage can cause low pressure headache
90
Define neurocutaneous syndrome.
The nervous system and the skin have a common ectodermal origin.
Embryological disruption causes syndromes involving abnormalities to both systems →the neurocutaneous syndromes
91
How common is neurofibromatosis type 1? How is it inherited?
Affects 1 in 3000 live births. Autosomal dominant, with variable expression - 50% de novo mutation
92
What is the mutation in neurofibromatosis type 1?
Caused by mutation in neurofibromin-1 (NF-1) gene
93
What is the criteria for diagnosing NF type 1?
To make a the diagnosis of NF type 1, two or more of the following criteria need to be present:
o 6+ café-au-lait spots \> 5 mm in size before puberty or \> 15 mm after puberty
o 1+ neurofibroma (unsightly, firm nodular overgrowth of any nerve)
o Axillary freckling
o Optic glioma (may cause visual impairment)
o 1 Lisch nodule (hamartoma of the iris seen on slit-lamp)
o First-degree relative with NF1
94
What are the other clinical features of NF type 1?
Cutaneous features tend to become more obvious after puberty
Neurofibromata appear in course of any peripheral nerve - may be unsightly or cause neurological signs if they occur at a site where a peripheral nerve passes through a bony foramen
Visual or auditory impairment may result if there is compression of the 2nd or 8th nerves
Other features
o Learning disabilities
o Optic pathway gliomas
o Associated with endocrinological disorders, MEN syndromes
o Also associated with phaeochromocytoma, pulmonary hypertension, renal artery stenosis with hypertension
95
What are the investigations of NF type 1?
* MRI
* Genetic testing
96
How common is NF type 2? How is it inherited?
Autosomal dominant syndrome
o 50% due to de novo mutation
1 in 30,000
97
What is the mutation in NF type 2?
NF2 gene
98
What is NF type 2 characterised by?
Characterised by
o Schwannomas (often bilateral vestibular schwannomas i.e. acoustic neuromas)
o Meningiomas
o Gliomas
o Cataracts
99
What are the clinical features of NF type 2?
Usually presents in adolescents
Predominant feature is deafness
Sometimes may present with cerebellopontine angle syndrome with a VIIth nerve paresis and cerebellar ataxia
100
What are the investigations for NF type 2?
Neurological examination
MRI
Ophthalmology
Genetic testing
Audiology
101
What is the management of neurofibromatosis?
Medical: Regular follow-up for monitoring BP, ophthalmology assessment, testing of 8th nerve and skeletal complications.
Surgical: Laser removal of nodules, orthopaedic or neurosurgical intervention.
102
How common is Tuberous Sclerosis? How is it inherited? What is the mutation?
1 in 9000 live births
Autosomal dominant
Caused by mutations in TSC1 and TSC2 gene
→ 70% of mutations de novo
103
What are the clinical features of Tuberous Sclerosis?
• Cutaneous features:
o Depigmented ash leaf shaped patches or amelanotic naevi which fluoresce under UV light (Wood's light)
o Roughened patches of skin (shagreen patches) usually over the lumbar spine
o Angiofibromata (adenoma sebaceum) - in a butterfly distribution over the bridge of the nose and cheeks
Neurological features:
o Infantile spasms and developmental delay
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o Epilepsy (often focal)
o Intellectual disability (often with autism)
```
Other features:
o Subungual fibromata
o Phakomata (dense white areas on the retina) from local degeneration
o Rhabdomyomata of the heart - usually identified in the first few weeks of live by echo → resolves by infancy
o Angiomyolipomas
o Polycystic kidneys
o Cysts in the lungs
In the brain, there are subependymal nodules and cortical tubers
Subependymal nodules may enlarge over time and form subependymal giant cell astrocytomas, which can block CSF causing hydrocephalus, vomiting and headaches
104
What are the investigations for tuberous sclerosis?
Neurodevelopmental testing – for cognitive functioning
EEG
ECG and echo
Genetic testing
Renal CT/MRI/USS
Cranial MRI
Chest CT
105
What is the management of tuberous sclerosis?
**Tuberous sclerosis** – treat according to presentation
Skin lesions – laser therapy
Cardiovascular – anti-arrhythmics
Epilepsy – anti-epileptics
Renal - antihypertensives
106
What are the clinical features of Sturge-Weber Syndrome?
Characterised by a haemangiomatous facial lesion (port wine stain) in the distributionof the trigeminal nerve
This is associated with a similar lesion intracranially (ipsilateral leptomeningeal angioma)
In the MOST SEVERE form, it may present with:
o Epilepsy
o Intellectual disability
o Contralateral hemiplegia
The ophthalmic division of the trigeminal nerve is ALWAYS involved
107
What are the investigations for Sturge-Weber Syndrome?
• Calcification of the gyri used to show characteristic ‘rail-road track’ calcification on skull X-ray→but nowadays, MRI used
108
What is the management of Sturge-Weber Syndrome?
Patients with intractable epilepsy may benefit from hemispherectomy
Laser treatment for port wine stain
For children who are less severely affected, deterioration if unusual after age of 5 although there may still be a seizures and learning difficulties
There is high risk of ipsilateral glaucoma in 50%, which should be assessed in neonatal period
109
Define tic disorder
Tics are sudden twitches, movements, or sounds that people do repeatedly. People who have tics cannot stop their body from doing these things. For example, a person might keep blinking over and over. Or, a person might make a grunting sound unwillingly.
110
What are the types of tic disorders?
* Motor
* Vocal
* Simple - one or few parts of the body
* Complex - Complex tics usually involve several different parts of the body and can have a pattern.
111
What are the clinical features of tic disorder?
* Symptoms usually begin when a child is 5 to 10 years of age.
* The first symptoms often are motor tics that occur in the head and neck area.
* Tics usually are worse during times that are stressful or exciting. They tend to improve when a person is calm or focused on an activity.
* The types of tics and how often a person has tics changes a lot over time. Even though the symptoms might appear, disappear, and reappear, these conditions are considered chronic.
* In most cases, tics decrease during adolescence and early adulthood, and sometimes disappear entirely. However, many people with TS experience tics into adulthood and, in some cases, tics can become worse during adulthood.[1](https://www.cdc.gov/ncbddd/tourette/facts.html#ref)
112
What is the management of tic disorder?
Consider **referral** to local pathways if:
o Tic associated anxiety, refer to mental health services
o Tic disorder associated with autism or ADHD, refer to neurodevelopmental team
o Tic disorder severe, refer for neurological assessment
Do not refer children with simple motor tics that are not troublesome for the child
1st line: CBT with habit reversal technique
2nd line: (more severe cases) alpha-2 adrenergic agonists e.g. clonidine, risperidone
113
Define Autism spectrum disorder.
Children who fail to acquire normal social and communication skills.
114
What is the epidemiology of ASD?
* More common in boys 4:1
* Diagnosed usually between 2 -4 yrs
* 1% of children affected
* Incidence dramatically increased
115
What are the RFs for ASD?
* It has a strong genetic basis via many alleles of small effect, with heritability of 90%
* Environmental factors remains strong.
* The risk of ASD maybe increased by:
* older parental age,
* maternal infections in pregnancy
* obstetric complications leading to hypoxia.
* ASD is highly comorbid with other conditions including disorders of intellectual development, epilepsy, tuberous sclerosis, Down syndrome, Rett syndrome, and fragile X syndrome
116
How do children with ASD present?
TRIAD of features:
1. Impaired Social Interaction - either quality or quantity
1. Range from total lack of awareness of another person to the presence of eye contact that is not used to modulate social interaction
2. Children often do not lift their arms in anticipations of being held, avoid eye contact or make contact but only as brief glance and not to get someone's attention
3. Lack of curiosity in their surrounding
4. Lack of empathy
5. Socially isolated
6. Find it hard to form friendships and maintain them
2. Impaired Social Communication
1. A hallmark: immediate or delayed echolalia
3. Imposition of routines with Ritualistic and Repetitive behaviours
1. Highly unusual preoccupation with special interest
2. Fascinations (cars, trains, dinosaurs …)
3. Preoccupation with routines/structures/layouts
4. Very strong preferences
5. Classic behaviour of lining up toys/collection
6. Stereotypical movements and self-stimulation behaviours
117
What are examples of impaired social interaction and communication?
118
What are examples of ritualistic and repetitive behaviours?
119
What co-morbidities are associated with ASD?
* Epilepsy
* Genetic conditions
* Intellectual Impairment
* Specific learning difficulties
* ADHD
* Schizophrenia…
* Also genetic conditions
* Fragile X
* Tuberous sclerosis complex
* Di Georges…
120
How do we diagnose and assess ASD?
Can be diagnosed as young as 2 years.
Clinical diagnosis by a specialist Paediatrician/Psychiatrist
Formal standardised tests may be used:
o Autism Diagnostic Interview - Revised (ADI-R)
o Autism Diagnostic Observation Schedule (ADOS)
o Diagnostic Interview for Social and Communication Disorders
121
How should you think of managing ASD?
* **Psychosocial Interventions**
* **Speech and Language Therapy -** Social skills training
* **Pharmacological**
* **Think about Families and Carers**
* **Educational**
122
What are the psychosocial interventions for ASD?
* Aim to increase attention, engagement and reciprocal communication
* Adjust to the child’s developmental level
* Aim to increase carers’ and teachers’ understanding of patient’s patterns of communication and interaction
* Include techniques to expand the child’s communication, interactive play and social routines
* Consider CBT if patient has anxiety and has the verbal and cognitive ability to engage in therapy.
* Applied Behaviour Analysis Therapy - ABA
123
What pharmacological therapies are available for ASD?
* Consider antipsychotic medication if behavioural issues are making psychosocial interventions ineffective
* Review at 3-4 weeks
* Stop at 6 weeks if no clinical indication
* Treat any comorbidities, e.g. ADHD according.
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What should we do for families and carers of autistic patients?
* Offer personal, social and emotional support - **National Autistic Society**
* Offer practical support in the caring role (respite breaks and emergency plans)
* Plan for the future (e.g. transition to adult care)
* Offer carer’s needs assessment
125
What should we do from an educational aspect for ASD patients?
Assess for learning disability
If needing extra support, discuss **EHC plan** (legal document that describes a child’s special education, health and care needs)
126
What information do you need to give to parents or carers of ASD patients?
* ASD is a spectrum
* every person is different
* Sensory sensitivity with bright lights, noises
* Use loved ones and carers to assist communication and interaction
* Ask about best communication strategy
* Remember importance fo routine for patients
* Show patience and empathy
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Define Attention Deficit Hyperactivity Disorder?
A persistent pattern (at least 6 months) of inattention and/ or hyperactivity- impulsivity, starting in early to mid- childhood, outside the limits of normal variation expected for the child’s age and intellectual functioning, which significantly interferes with his or her functioning, in more than one setting.
128
Who is at risk of having ADHD? Describe epidemiology.
* ADHD is three times commoner in boys than girls and affects 2% of UK children
* It is 75% heritable but the cause is unknown
* Environmental risk factors include:
* prematurity,
* low birthweight
* prenatal tobacco
* lead exposure
* ADHD is associated with paternal dissocial behaviour, maternal depression, and lower socioeconomic status.
* Dopamine and noradrenaline deficiencies may impair regulation of frontal lobe executive function
129
Who is at risk of having ADHD? Describe epidemiology.
* ADHD is three times commoner in boys than girls and affects 2% of UK children
* It is 75% heritable but the cause is unknown
* Environmental risk factors include:
* prematurity,
* low birthweight
* prenatal tobacco
* lead exposure
* ADHD is associated with paternal dissocial behaviour, maternal depression, and lower socioeconomic status.
* Dopamine and noradrenaline deficiencies may impair regulation of frontal lobe executive function
130
What are the clinical features of ADHD?
This manifests as :
o Disorganised, poorly regulated and excessive activity
o Difficulty taking turns/sharing
o Socially disinhibited
o Butt into other peoples' conversations and play
o Inattention and hyperactivity is worst in familiar or uninteresting situations
They CANNOT regulate their activity according to the situation:
o Fidgety
o Excessive movements inappropriate to task completion
o Lose possessions
o Generally disorganised
o Short tempers
o Poor relationships with other children
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What are the investigations for ADHD?
* Questionnaires, e.g. Conners Rating Scales, completed by the child, parents, and teacher.
* Clinician observation in a classroom setting.
* Educational psychologist assessment.
**ADHD criteria**: Diagnosis should only be made by specialist psychiatrist, paediatrician or other qualified professional with training and expertise in ADHD diagnosis.
o Meet criteria for DSM5 or ICD10 (hyperkinetic disorder)
o Cause at least moderate psychological, social or educational impairment
o Be pervasive, occurring in 2 or more settings including social, familial or educational settings
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How do we think about managing ADHD?
* MDT approach
* Consider waiting and watching
* If persistent, refer to secondary care
* Parent education and training programmes
* Consider age of child and affect on life - pharmacotherapy?
* Monitor medication
* Dietary advice
* Support!
133
Who forms part of the ADHD MDT?
**MDT**: paediatrician, psychiatrist, ADHD nurses, mental health and learning disability trusts, CAMHS, parent groups, social care, school/college
134
What should be done in ALL children with suspected ADHD?
In children who have behavioural/attention problems that are adversely impacting on their development or family life:
o Consider period of watchful waiting for up to 10 weeks
o Offer referral to **group-based ADHD-focused support** for parents
o Refer to specialist if problems are severe
135
How should ADHD be approached in children \< 5 yrs?
o **1st line**: Offer an **ADHD-focused group parent-training programme** to parents and carers 10-16 meetings in a group of 10-12 participants
o If this fails, seek advice from a specialist ADHD service
o Do NOT offer medication unless under the instruction of a specialist ADHD service
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How should ADHD be approached in children \> 5 yrs?
o Recommend **ADHD-focused group parent-training programme**:
1. Education about ADHD
2. Advice on parenting strategies
3. Liaison with school (with consent)
4. Both parents and carers if feasible
o Offer individualised parent-training programmes if there are difficulties attending group sessions or the needs are too complex
o Offer **medication** if ADHD symptoms persist and cause significant impairment despite environmental modification
1. 1st line: M**ethylphenidate** for 6 week trial
2. If unsuccessful, consider switching to **lisdexamphetamine**
3. If responding to lisdexamphetamine but not tolerating side-effects, consider switching to **dexamphetamine**
4. Offer **atomoxetine** or **guanfacine** if methylphenidate or lisdexamphetamine cannot be tolerated or symptoms have not responded to 6-week trials of both
5. Establish baseline physical state (height and weight) and do baseline ECG before starting medication
6. Yearly off-medication trials are recommended
o Consider **CBT** if significant impairment in:
Social skills, problem solving, self-control, active listening and dealing with expressing feelings
o Other medications: clonidine for sleep disturbance, rages or tics, antipsychotics for aggression and irritability
137
How should medication be monitored?
o Consider using symptom rating scales(e.g.Conner’s)
o Measure height every 6 months
o Measure weight every 3 months
o NOTE: if height/weight is significantly affected by the treatment, consider a planned break (treatment holiday) over school holidays
o Monitor HR and BP every 6 months
o Monitor for development of tics after taking stimulant medication
o Monitor for sexual dysfunction, seizures, sleep disturbance and worsening behaviour
138
What dietary advice should be given
o Stress importance of balance diet and regular exercise
o Explore foods that seem to influence behaviour( recommend keeping a food diary)
o Consider referral to dietician if a relationship with certain foods is observed in the diary
o No dietary interventions are particularly evidence-based
139
How should you explain the diagnosis of ADHD to parents
140
What is the most common cause of motor impairment in children?
Cerebral palsy
141
Define Cerebral Palsy.
Cerebral palsy is an umbrella term for a **permanent disorder of movement and/or posture and due to a non-progressive lesion in the motor pathways of the developing brain**
142
What are the motor disorder of CP commonly accompanied by?
The motor disorders are often accompanied by abnormalities in
* cognition
* communication
* vision
* perception
* sensation
* behaviour
* seizure disorder
* secondary musculoskeletal problems
143
What is it called with the brain injury is after 2 yrs in CP?
Acquired brain injury
144
How common is CP?
2-3.5 in 1000 births
145
What are the causes of CP?
o Antenatal (80%): structural, haemorrhage, infection, genetic (SHIG)
▪ Cerebrovascular haemorrhage or ischaemia
▪ Cortical migration disorders
▪ Structural maldevelopment during gestation
▪ Genetic syndromes
▪ Congenital infection (rubella, CMV, toxoplasmosis)
o Perinatal (10%)
▪ Hypoxic-ischaemic injury before or during delivery (birth asphyxia/trauma) e.g. due to instrumental delivery, malpresentation, birth trauma, placental abruption, prolonged/obstructed labour
o Postnatal (10%): metabolic, infection, trauma, haemorrhage (MITH)
▪ Meningitis
▪ Encephalitis
▪ Encephalopathy
▪ Head trauma from accidental or non-accidental injury
▪ Intraventricular haemorrhage
▪ Symptomatic hypoglycaemia
▪ Hydrocephalus
▪ Hyperbilurbinaemia
o Preterm infants are particularly vulnerable to brain damage from periventricular leukomalacia secondary to ischaemia and/or severe intraventricular haemorrhage and venous infarction
146
How do we classify CP?
Classification is based on neurological features: (SAD)
o Spastic: bilateral, unilateral, not otherwise specified (90%)
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o Dyskinetic(6%)
o Ataxic(4%)
o Other/mixed (10%)
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What is the GMFCS?
Gross Motor Functional Classification System (GMFCS) is used to describe the gross motor functional level (functional ability)
o Level 1 - walks without limitations
o Level 2 - walks with limitations
o Level 3 - Walks using a handheld mobility device
o Level 4 - Self-mobility with limitations, may use powered mobility
o Level 5 - Transported in a manual wheelchair
• General Movement Assessment: can be used for neonates 0-3 months
148
What are the clinical features of CP?
• Early features
o Abnormal limb and/or trunk posture and tone in infancy
o Delayed motor milestones especially
▪ Not sitting by 8 months
▪ Not walking by 18 months
▪ Early hand preference before 1 year
o May be accompanied by slowing of head growth
o Feeding difficulties with oromotor incoordination, slow feeding, gagging and vomiting
o Abnormal gait once walking is achieved
o Primitive reflexes may persist or become obligatory
o Abnormal fidgety movements
• Common associated non-motor problems o Learning difficulties
o Epilepsy
o Squints
o Hearing impairment
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What are the investigations of CP?
Clinical examination with assessment of posture and pattern of tone in limbs and trunk, hand function and gait
MRI brain scans may help identify cause, but not required to make the diagnosis
o May show periventricular leukomalacia, congenital malformation, stroke or haemorrhage, cystic lesions
150
Which is the most common type of CP?
Spastic
151
Define Spastic CP.
Damage to the upper motor neurone (pyramidal or corticospinal tract) pathway
152
What are the clinical features of Spastic CP?
o Limb spasticity (increased tone)
▪ Velocity dependent: the faster the muscle is stretched the greater the resistance it will have. This elicits a dynamic catch. The increased limb tone may suddenly yield under pressure in a ‘clasp knife’ fashion
o Brisk deep tendon reflexes
o Extensor plantar response
153
What are the types of spastic CP?
* Unilateral (hemiplegia)
* Bilateral (quadriplegia)
* Bilateral (diplegia)
154
Describe unilateral (hemiplegia) spastic CP.
* What does it involve?
* When and how does it present?
* How severe is it?
* What are pts at risk of?
* What causes it?
▪ Unilateral involvement of arm and leg (arm \> leg)
▪ Usually presents at 4-12 months with fisting of affected hand, a flexed arm, pronated forearm, asymmetric reaching, hand function or toe pointing when lifting the child
▪ May subsequently develop a tiptoe walk (toe-heel gait)
▪ Affected limbs may initially be flaccid/hypotonic but increased tone soon emerges
▪ May have visual field defect on side of hemiplegia
▪ Risk of learning difficulties and seizures
▪ Often GMFCS level 1 and 2
▪ Medical history may be unremarkable suggesting the possibility of a silent prenatal cause.
▪ A possible cause is neonatal stroke (perinatal middle cerebral artery infarct) with opposite side of body affected
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Describe bilateral (quadriplegia) spastic CP.
* What does it involve?
* When and how does it present?
* How severe is it?
* What are pts at risk of?
* What causes it?
▪ All four limbs affected
▪ Trunk may be involved with opisthotonos, poor head control and low central tone
▪ Often associated with seizures, microcephaly and intellectual impairment
▪ Associated with learning difficulty, feeding difficulties, problems with speech, vision and hearing
▪ Seizures common
▪ Increased risk of hip subluxation and dislocation and scoliosis
▪ GMFCS levels 4 and 5
▪ Aetiology: May have a history of perinatal HIE causing extensive damage to periventricular areas of developing brain including cortex
156
Describe bilateral (diplegia) spastic CP.
* What does it involve?
* When and how does it present?
* How severe is it?
* What are pts at risk of?
* What causes it?
▪ All four limbs are affected but the legs are affected more than the arms (so hand function may be normal)
• This is because leg motor fibres from the homunculus are closest to the ventricles, so legs more affected than arms
▪ Spasticity is main motor type
▪ Younger child: pattern with walking on their toes with scissoring of legs
▪ Older child: crouch gait pattern is typical as child gets heavier and can’t remain on their toes
▪ Usually no feeding or communication difficulties and good cognition, associated with squints
▪ GMFCS level 1-3
▪ Aetiology: Diplegia is often associated with preterm birth due to periventricular brain damage (periventricular leukomalacia)
157
Define dyskinetic CP.
Dyskinesia refers to movements that are involuntary, uncontrolled, occasionally stereotyped and often more evident than active movement or stress
Primitive motor reflex pattern predominate
158
How may dyskinetic CP be described?
o Chorea: irregular, sudden and brief non-repetitive movements
o Athetosis: slow writing movements occurring more distally such as fanning of the fingers
o Dystonia: simultaneous contraction of agonist and antagonist muscles of the trunk and proximal muscles often giving a twisting appearance (spasms)
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How does dyskinetic CP present? How severe is it? What causes it? What would an MRI show?
Intellect may be unimpaired but feeding difficulties are common
PRESENTATION in infancy: floppiness, poor trunk control and delayed motor development
o NOTE: abnormal motor movements may only become apparent after 1 year
• Aetiology: perinatal asphyxia particularly affecting basal ganglia
o The signs usually result from damage to the basal ganglia and associated pathways (extra-pyramidal)
o Previously, the most common cause of dyskinetic cerebral palsy was kernicterus due to rhesus disease of the newborn
o Now, the MOST COMMON cause is HIE
GMFCS level 4-5
MRI: bilateral changes predominantly in basal ganglia
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How are ataxic (hypotonic) CPs determined? What characterises them? How does it present? What causes it?
Most are GENETICALLY determined
Characterised by early trunk and limb hypotonia, poor balance and delayed motor development
Later features include incoordinate movements, intention tremor and ataxic gait
Due to damage to the cerebellum
161
Define mixed CP.
Most patients have a predominant motion disorder but when that cannot be determined, patients are classified as having a mixed-type cerebral palsy
162
What are the RFs of other neurological disorders apart from CP?
o Absence of risk factors
o Family history of progressive neurological disorder
o Loss of already attained cognitive or developmental abilities
oDevelopment of unexpected focal neurological signs
o MRI findings suggestive of progressive neurological disorder
o MRI findings not in keeping with CP
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How should we think of managing CP?
* a MULTIDISCIPLINARY approach is essential
* Optimise feeding and nutritional status
* Saliva control
* Speech and language
* Manage low bone mineral density
* Manage pain
* Sleep disturbances
* **Visual impairment**
* **Hearing impairment**–affects 1 in 10 children
* **Learning disability and behavioural difficulties**
* **Gastro-oesophageal reflux–**refer to specialist
* **Chronic constipation (3 in 5)**-laxatives
* **Epilepsy (1 in 3)**–anticonvulsants
* Medications
164
Who forms part of the CP MDT?
o **Main Members**: paediatrician, nurse, physiotherapist, occupational therapist, speech and language therapist, dietetics, psychology
o **Supplementary Members**: orthopaedics, orthotics, visual and hearing
165
How do optimise feeding and nutritional status?
o Should be assessed by a speech and language therapist with training in assessing dysphagia
o Specialist MDT may consider video fluoroscopy
o Create individualised plan for managing eating, drinking and swallowing (e.g.including postural management, modifying textures, feeding techniques and equipment)
166
How dose manage speech language and communication in CP?
o **Note**:communication difficulty does not necessarily correlate with learning difficulty
o Interventions for speech intelligibility include posture, breath control, voice production and rate of speech
o Consider augmentative and alternative communication systems if they need support understanding and producing speech (e.g. pictures, symbols and signs)
167
How can we manage saliva control?
Consider anticholinergics (e.g. glycopyrronium bromide, transdermal hyoscine hydrobromide)
If anticholinergic drugs contraindicated, not tolerated or ineffective, refer to specialist service to consider other treatments
Specialists may consider botulinum toxin A injection into salivary glands
168
How do we manage low bone mineral density?
Non-ambulant children with CP are at risk of low-impact fractures
Assess dietary intake of calcium and vitamin D
Consider an active movement/weight bearing programme or dietetic interventions
169
How do we manage pain in CP?
• Consider reducing regime of paracetamol if no identifiable cause
170
How do we manage sleep disturbance in CP?
Optimise sleep hygiene
Consider a trial of melatonin **Mental health problems**
• Refer for specialist psychological assessment
171
How do we manage visual impairment in CP?
Refer all children with a hearing impairment for an initial baseline ophthalmological and orthoptic assessment
1 in 2 children will have a visual impairment (e.g. issue controlling eye movement, squint, refractive errors)
172
What treatments can we give for CP?
o Oraldiazepam
o Oral and intrathecal baclofen
o Botulinum toxin type A
o Orthopaedicsurgery
o Selective dorsal rhizotomy (some of the nerve roots of the spinal cord are cut to
reduce spasticity)
o Deep brain stimulation
173
Define febrile convulsion.
A febrile seizure or febrile convulsion is an epileptic seizure accompanied by a fever in the absence of intracranial infection
174
How common are febrile convulsions?
Occur in 3% of children between ages 6 months to 6 years - genetic predisposition, with a 10% risk if a child has a first degree relative with febrile seizures
175
When do febrile seizures occur?
Occur early in a viral infection when temp is rising rapidly
176
What is the risk of subsequently developing epilepsy after a febrile seizure?
1-2%, similar to risk of all children (slightest bit higher)
177
Describe the pathophysiology of febrile seizures.
Seizure usually occurs early in a viral infection when the temperature is rising rapidly
HHV6 and 7 are common causes
o HHV6 is commonest cause of febrile convulsion in a child worldwide (causes exanthem subetum)
Febrile seizures are dependent upon a threshold temperature – which can vary from individual to individual
Risk of recurrence inc
o The younger the child
o The shorter the duration of illness before the seizure
o The lower the temperature at time of seizure
o Positive family history
Simple febrile seizures do not cause brain damage
There is a 1-2% chance of subsequently developing epilepsy – similar risk to all
children
Complex febrile seizures i.e.
focal, prolonged, or repeated in same illness – have an inc risk of 4-12% of subsequent epilepsy
178
What are the clinical features of febrile convulsions?
Fever
Usually brief, generalised tonic- clonic seizures
o Distinguish if focal or generalised
o Ask about nature of episode: before, during, after
o Did the shaking start in one part of body and spread, or generalised from start?
o Note: don’t ask about tongue biting in small baby (no teeth) and about incontinence (they are incontinent anyway)
• Note:
o A rigour: shaking due to fever with normal consciousness
▪ Common causes: flu, malaria, gram -ve sepsis
o Febrile seizure: loss of consciousness
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What are the investigations of febrile convulsions?
Focus examination on cause of fever
o Usually viral illness
o Bacterial infection incl meningitis should always be considered
Septic screen
o Including blood cultures, urine culture and LP
Note: if child unconscious or cardiovascular instability, LP is contraindicated and abx should be started immediately
180
How should we think about the management of febrile convulsions?
* **Management DURING a seizure**
* **Management after a Seizure**
181
How should you manage during a febrile seizure?
**Management DURING a seizure**
o **Protect**: cushion their head, do not restrain or put anything in their mouth, remove harmful objects nearby
o **Airway**: once seizure stops, check airway and put them in the recovery position
o Time duration of seizure if possible
If the seizure lasts **\> 5 mins,** call ambulance OR **give rescue medication (buccal midazolam** or r**ectal diazepam)**
Doses can be repeated once after 10 mins if the seizure hasn't stopped
Call ambulance if 10 minutes after the first dose:
* Seizure ongoing
* Twitching ongoing
* Another seizure has started before child has regained consciousness
Recommended dose of midazolam:
* 6 months - 11 months = 2.5mg
* 1-4 years = 5 mg
* 5-9 years = 7.5 mg
Recommended dose of rectal diazepam:
* 6 month - 1 year = 5 mg
* 2-11 years = 5-10 mg
o Measure **blood glucose** if the child cannot be roused or is convulsing
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What is the management after the febrile convulsion?
* Identify and manage the cause of the fever
* Urgently admit any child with suspected meningococcal disease
* Use the NICE traffic light system to assess the likelihood of serious illness in a child with a fever
* Arrange **immediate hospital assessment by a paediatrician** if:
* First febrile seizure or if second seizure in a child who has not been assessed before \< 18 months old
* Diagnostic uncertainty about the cause of the seizure
* Complex febrile seizure: focal features, seizure lasting \>15 minutes, recurrence within 24h or within same febrile illness, incomplete recovery within 1h
* Focal neurological deficit
* Decreased level of consciousness prior to seizure
* Seizure recurred in the same febrile illness (or within 24 hours)
* Child recently taken antibiotics as can mask signs of CNS infection
* Parents are anxious and/or feel that they cannot cope
o If the child has no apparent focus of infection, consider **urgent** hospital assessment for a period of observation
o **Referral** to paediatrician or paediatric neurologist if neurodevelopmental delay and/or signs of neurocutaneous syndrome or metabolic disorder.
o **All other children can be managed AT HOME** Inform parents about febrile convulsions
* They are not the same as epilepsy
* The risk of epilepsy in the future is only slightly higher than the general population
* Short-lasting seizures are not harmful to the child
* 1/3 children will have another febrile convulsion
* Advise
* Protect them from injury
* Do not restrain or put anything in their mouth
* Check the airway and place in the recovery position when the seizure stops (explain that the child might be drowsy for up to an hour)
* Seek medical advice if the seizure lasts \> 5 mins, call an ambulance if parents about what to do when a seizure occurs
* Advice parents about managing fever
* **Reducing fever does not prevent recurrence**
* Explain when and how to use paracetamol or ibuprofen
* Advise about maintaining adequate fluid intake
* Advise on when to seek prolonged symptoms
* Advise parents to carry on with routine immunisations, even if febrile seizure followed an immunisation
* Do NOT prescribe drugs to manage or prevent future seizure
* • UNLESS on the advise of a specialist
* Consider primary care follow-up
