Presentations
- Abnormal movements
- Acidosis
- Bowel changes, such as:
- diarrhoea
- reduced bowel motions
- stained meconium
- Breathing difficulties, such as:
- apnoea
- respiratory distress
- Cyanosis / Pallor
- Developmental and/or growth delays
- Fever or low body temperature
- Hyperflexibility / Hypotonia
- Intrauterine growth restriction (IUGR)
- Lethargy
- Low heart rate
- Microcephaly
- Muscle weakness
- Neonatal seizures
- Poor reflexes
- Spasms
- Tonic motor activity and posturing
- Vomiting and/or poor feeding
Conditions
- Congenital and neonatal infections
- Disorders of prematurity
- Hypotonia:
- disorders of the anterior horn cell, such as:
- disorders of the peripheral nerve
- genetic and central nervous system disorders, including:
- myasthenic syndromes
- myopathy
- myotonic dystrophy
- systemic disease / illness
- Hypoxic ischaemic encephalopathy, including:
- periventricular leukoencephalopathy
- Inborn errors of metabolism
- Neonatal seizures
- Postnatal complications of maternal antenatal disease
- Stroke:
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
- Clinical correlates, pathophysiology, and prognosis of neonatal encephalopathy, including:
- hypoxic ischaemic encephalopathy
- periventricular leukomalacia
- Differential diagnosis, investigation, and management plans for neonatal seizures
- Disorders of metabolism in the newborn period
- Evaluation and management of perinatal stroke
- Impact of maternal disorders and prenatal neurologic diagnoses on the fetus
- Neurodevelopmental features and examination findings of normal preterm and term infants
Cerebrospinal fluid (CSF) procedures and investigations
- Lumbar puncture (LP) and interpretation of investigation results, such as:
- basic CSF analysis:
- cell count
- cytology
- immunological tests
- microbiological tests
- paired serum and:
- CSF lactate
- CSF glucose level
- protein level
- xanthochromia
- Special tests:
- CSF amino acids
- neurotransmitters, including:
- paired serum and CSF oligoclonal bands
Clinical neurophysiology investigations
- EEG:
- amplitude integrated EEG (aEEG)
- standard EEG
- video EEG
- Electromyography (EMG):
- motor and sensory studies
- needle EMG
- nerve conduction studies (NCS)
- repetitive nerve stimulation
- single-fibre EMG
Neurogenetic investigations
- Genetic testing, including, but not limited to:
- chromosomal testing, such as:
- genomic testing, including whole exome or genome sequencing
- mitochondrial genome sequencing
- targeted panel testing
- Referral to a neurogeneticist
Neuroimaging investigations
- CT, including:
- Magnetic resonance:
- angiography (MRA)
- spectroscopy (MRS)
- venogram (MRV)
- MRI
Other investigations
- Cardiac investigations:
- 24-hour electrocardiogram monitoring
- ECG
- echocardiography
- Other laboratory tests:
- ammonia
- blood gas
- creatine kinase
- liver function tests
- thrombophilia screen
- thyroid function tests
- transferrin isoforms
- white cell enzymes
- Polysomnography
- Approach to breaking bad news and future counselling of a child with neurological diagnosis at birth
- Approach to emergency management and escalation of therapy for neonatal seizures
- Approach to introduction of the palliative care team
- Approach to neurological assessment of a newborn, including:
- antenatal
- birth
- comprehensive examination
- genetic history
- maternal
- Approach to the hypotonic newborn
- Discussion of life-limiting diagnosis and end-of-life considerations
