Presentations – antenatal malformation disorders
- Abnormal antenatal neuroimaging (fetal MRI and ultrasound)
Presentations – postnatal
- Bladder / Bowel problems
- Developmental delay
- Difficulty with movement and balance
- Dwarfism or short stature
- Headache
- Irregular head shape
- Macrocephaly
- Memory problems
- Metabolic disturbance
- Microcephaly
- Muscle weakness, such as difficulty walking, stiffness, and/or paralysis
- Nausea and/or vomiting
- Problems with eating, feeding, and swallowing
- Rapid head growth and/or bulging veins
- Seizures
- Vision and hearing problems
Conditions – antenatal
- Callosal abnormalities
- Cerebellar hypoplasia
- Congenital infections
- Neuronal migrational disorders
- Posterior fossa malformations, including:
- cisterna magna
- Dandy–Walker syndrome
- Septo-optic dysplasia spectrum
- Ventriculomegaly
Conditions – postnatal
- Acquired malformations, such as:
- congenital infection
- encephalomalacia
- hypoxic ischaemic encephalopathy
- Congenital malformations, such as:
- antenatal conditions (with postnatal presentation)
- focal cortical dysplasias
- tubulinopathies
- Craniosynostosis, plagiocephaly, and syndromic craniosynostosis
- Destructive malformations, such as:
- anencephaly
- holoprosencephaly
- schizencephaly
- Dysmorphic syndromes
- Genetic syndromes, including:
- neurofibromatosis
- overgrowth syndromes
- Hydrocephalus
- Inborn errors of metabolism
- Spina bifida and other malformations of spinal cord development
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
Malformations
- Causes of an irregularly sized or shaped head
- Causes of raised intracranial pressure
- Clinical features and presentations of the common forms of brain malformation
- Embryology of brain and spinal cord development
- Impact of maternal disorders and prenatal neurologic diagnoses on the fetus
- Investigation and management planning for developmental malformations and/or dysmorphic syndromes identified in the newborn period
- Mechanisms of cerebrospinal fluid (CSF) formation and flow pathway
- Patterns of brain malformation
- Presentations and complications of spinal cord malformations
CSF procedures and investigations
- Lumbar puncture (LP) and interpretations results of investigations, such as:
- basic CSF analysis:
- cell count
- cytology
- microbiological tests
- protein level
- glucose level
- xanthochromia
Clinical neurophysiology investigations
- EEG:
- amplitude-integrated EEG
- standard EEG
- video EEG
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
- Antenatal ultrasound
- Fetal MRI
- Magnetic resonance:
- angiography (MRA)
- spectroscopy (MRS)
- venogram (MRV)
- MRI
Neuropsychological investigations
- Behavioural, cognitive, and developmental screening:
- Bayley Scales of Infant and Toddler Development
- Conners neuropsychology assessment tools
- Wechsler Intelligence Scale for Children (WISC-V)
- Wechsler Preschool and Primary Scale of Intelligence (WPPSI)
- Referral to a neuropsychologist
- Approach to antenatal counselling and the role of the multidisciplinary team
- Interpretation of antenatal imaging
