Chapter 22: Neurology

The neurological consultation · Investigation of neurological disorders · Giving the news of disability · Development of the human brain
🧠 Key themes: detailed neurological history & examination, neuroimaging (CT/MRI), EEG, NCS/EMG, newborn brain development (neurulation, synaptogenesis), communicating a diagnosis of disability (family support, multidisciplinary care).

📖 Core concepts: from bedside to brain development

🧑‍⚕️ Neurological consultation
History: prenatal/perinatal, developmental milestones, regression, paroxysmal events (seizure mimics). Exam: tone, power, reflexes, coordination, fundi, head circumference, primitive reflexes.
🔬 Investigations
MRI (structural, myelination), CT (acute bleed/fracture), EEG (seizure/epilepsy syndrome), NCS/EMG (neuromuscular), LP (infection/inflammation), metabolic/genetic testing.
🧠 Brain development
Neurulation (dorsal induction) → prosencephalic development → neuronal proliferation → migration → organisation → myelination. Critical periods: first 2 years.
📢 Giving the news of disability
Prepare environment, sit down, use clear language, allow emotions, avoid jargon. Provide written information, arrange follow-up, involve multidisciplinary team (nurse, social worker).
🛟 Support after diagnosis
Parent support groups (SCOPE, Contact), early intervention programs, physiotherapy, developmental paediatrician, genetic counselling, education, respite care.
⚠️ Key messages when breaking bad news: Avoid euphemisms; give information in small chunks; check understanding; acknowledge parent’s expertise; never say "nothing can be done" — always focus on achievable goals and support.

🩺 The neurological consultation & communicating disability

1
History taking – Pregnancy, birth, neonatal period (HIE, seizures). Developmental history (milestones, regression). Family history (neuromuscular, epilepsy, metabolic). Paroxysmal events: video recordings extremely helpful.
2
Examination essentials – Head circumference (serial), anterior fontanelle, auscultate for bruits. Cranial nerves, motor (tone, power, Gowers), reflexes, coordination (finger-nose, heel-shin, gait), sensory (if cooperative).
3
Breaking bad news: ‘SPIKES’ framework – Setting, Perception, Invitation, Knowledge, Empathise, Strategy/Summary. Use simple terms, avoid ‘mental retardation’ (use ‘learning disability’), offer realistic hope.
4
Post-diagnosis support – Provide written summary, connect with family support worker, refer to early years team (physio, OT, SALT), discuss genetic counselling, address parental guilt (avoid blame).
5
Long-term perspective – Multidisciplinary clinics (neurologist, developmental paediatrician, therapists). Education, health care plan, transition to adult services (when appropriate).
📌 Practical tip: “Is there anything else you would like me to explain?” and “What questions do you have?” — essential open-ended questions after delivering difficult news. Always ensure interpreter if language barrier.

📋 Investigation of suspected neurological disorders – algorithm

1
First-line after history/exam – Targeted based on presentation: suspected seizure → EEG; acute focal deficit or raised ICP → urgent CT/MRI; suspected neuropathy → NCS/EMG; suspected infection → LP + blood cultures.
2
Neuroimaging choices – CT: haemorrhage, fracture, hydrocephalus (quick). MRI: best for structural malformations, white matter (leukodystrophy), tumours, cortical dysplasia, posterior fossa.
3
Electroencephalography (EEG) – Routine, sleep-deprived, ambulatory, video-telemetry (epilepsy surgery evaluation). Interictal epileptiform discharges support epilepsy syndrome diagnosis.
4
Neurophysiology (NCS/EMG) – Demyelinating vs axonal (GBS, CMT); myopathy vs neuropathy (EMG pattern, MUAP). Repetitive stimulation for neuromuscular junction disorders.
5
Lumbar puncture & metabolic/genetic tests – CSF: protein, glucose, cells, oligoclonal bands (MS), lactate (mitochondrial). Metabolic: blood/urine amino/organic acids, lactate, ammonia, very long chain fatty acids (leukodystrophies). Genetic (microarray, whole exome) for neurodevelopmental disorders.
🧬 Indications for genetic testing in neurology: Intellectual disability with dysmorphism, progressive encephalopathy, unexplained epilepsy, neuromuscular disorders (SMA, DMD), familial neurodegenerative conditions.

🧠 Clinical reflex prompts & brain development milestones

🧠 Neurulation (3–4 weeks)
Neural tube defects (spina bifida, anencephaly) result from failed closure. Folate prophylaxis reduces risk.
🧬 Prosencephalic development
Holoprosencephaly (midline facial defects, hypotelorism, cleft lip/palate).
📈 Migrational disorders
Lissencephaly (smooth brain), polymicrogyria → severe epilepsy, developmental delay.
🕒 Myelination milestones
Term: brainstem and posterior limb of internal capsule myelinated. Corticospinal tracts complete by 2 years.
🗣️ Giving news: "Our child has cerebral palsy"
Use specific name; ask what they already suspect; provide written information; arrange follow-up appointment; connect with parent mentor.
⚡ First unprovoked seizure: to treat or not?
Immediate AED after first unprovoked seizure: decision based on high risk of recurrence (abnormal EEG, remote symptomatic, focal). Usually start after second seizure.
🧪 Lumbar puncture in possible meningitis – when to image first?
If GCS <9, focal neurology, papilloedema, immunocompromised, or age <1 year with bulging fontanelle → CT prior to LP.
🧬 Regression of milestones + ataxia + skin hypopigmentation
Suspicious of tuberous sclerosis or other neurocutaneous disorder. Wood’s lamp for ash-leaf spots, MRI brain, genetic testing.
👶 Primitive reflexes persist beyond 6 months
May indicate cerebral palsy or global developmental delay. Asymmetric tonic neck reflex (ATNR) persists → spastic hemiplegia.
📋 Parental emotions after disability diagnosis
Denial, anger, guilt, grief, adaptation. Provide repeated opportunities for discussion; avoid “I understand” (instead: “Many parents feel this way”).