Curriculum standards
Knowledge guides
LG16: Congenital malformation disorders
Key presentations and conditions
Advanced Trainees will have a comprehensive depth of knowledge of these presentations and conditions.
Epidemiology, pathophysiology, and clinical sciences
Advanced Trainees will have a comprehensive depth of knowledge of the principles of the foundational sciences.
Investigations, procedures, and clinical assessment tools
Advanced Trainees will know the scientific foundation of each investigation and procedure, including relevant anatomy and physiology. They will be able to interpret the reported results of each investigation or procedure.
Advanced Trainees will know how to explain the investigation or procedure to patients, families, and carers, and be able to explain procedural risk and obtain informed consent where applicable.
Important specific issues
Advanced Trainees will identify important specialty-specific issues and the impact of these on diagnosis and management and integrate these into care.
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
- basic CSF analysis:
Clinical neurophysiology investigations
- EEG:
- amplitude-integrated EEG
- standard EEG
- video EEG
Neurogenetic investigations
- Genetic testing, including, but not limited to:
- chromosomal testing, such as:
- karyotype
- microarray
- genomic testing, including whole exome or genome sequencing
- mitochondrial genome sequencing
- targeted panel testing
- chromosomal testing, such as:
- 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