Knowledge guides

LG17: Developmental delay and regression

Key presentations and conditions

Advanced Trainees will have a comprehensive depth of knowledge of these presentations and conditions.

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Less common or more complex presentations and conditions

Advanced Trainees will understand these presentations and conditions.

Advanced Trainees will understand the resources that should be used to help manage patients with these presentations and conditions.

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Epidemiology, pathophysiology, and clinical sciences

Advanced Trainees will have a comprehensive depth of knowledge of the principles of the foundational sciences.

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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.

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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.

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Presentations
  • Abnormal movements
  • Agitation, confusion, or lethargy
  • Cardiac issues
  • Gross motor delay
  • Gross motor or language regression
  • Headaches
  • Hearing loss
  • Hepatosplenomegaly
  • Hypersomnia
  • Hypertonia
  • Hypotonia
  • Impaired balance / coordination
  • Loss of cognitive skills
  • Memory loss
  • Microcephaly
  • Myotonia
  • Neurocutaneous syndromes
  • New onset aspiration or choking, and swallowing difficulties
  • Seizures
  • Spasms
  • Status epilepticus and dystonicus
  • Vision problems:
    • double vision
    • ptosis
    • visual loss
Conditions – epilepsy
  • Childhood seizures
  • Encephalopathy:
    • developmental
    • epileptic
  • Infantile epileptic spasms syndrome (IESS)
  • Status epilepticus
Conditions – genetic / syndromic
  • Aicardi–Goutières syndrome
  • Chromosomal abnormalities
  • Neurocutaneous syndromes
  • Neuromuscular conditions
  • Specific genetic conditions
Conditions – infection
  • Intrauterine infections
  • Postnatal infections, such as:
    • encephalitis
    • meningitis
Conditions – inflammatory
  • Autoimmune encephalopathies, including:
    • acute disseminated encephalomyelitis (ADEM)
    • anti-NMDA receptor (NMDAr) encephalitis
  • Multiple sclerosis (MS)
Conditions – metabolic
  • Acute encephalopathy secondary to metabolic crisis
  • Amino acid and organic acidurias
  • Glycogen storage disorders
  • Glycosylation disorders
  • Lipofuscinoses
  • Mitochondrial disorders
  • Porphyria
  • Storage disorders
  • Urea cycle defects
  • Wilson disease
Conditions – structural
  • Acquired perinatal or postnatal infective, traumatic, or vascular insult
  • Cerebral malformations or neuronal migration defects
  • Hydrocephalus:
    • acquired
    • congenital
  • Intracranial or spinal vascular malformations
  • Space-occupying lesion
Conditions – other
  • Autism spectrum disorder
  • Inflicted injury
  • Nutritional, such as:
    • vitamin B12 deficiency
  • Obstructive sleep apnoea
  • Oncological central nervous system (CNS) conditions
  • Persuasive development disorders
  • Toxins or therapy related-chemoradiation

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
Presentations
  • Abnormal newborn screen
Conditions
  • Acute onset neuropsychiatric syndrome (PANS)
  • Neuropsychiatric childhood onset autoimmune conditions, such as:
    • systemic lupus erythematosus (SLE)
  • Psychiatric conditions, such as:
    • acute psychosis

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
  • Assessment of all relevant maternal and child history, as well as family history, pertaining to all aspects of development of an infant, child, or young person
  • Causes of developmental delay and the area affected, such as global or specific
  • Determining whether other organs are involved, from history and examination
  • Determining whether the clinical features are referable only to the CNS, or if the peripheral nervous system is involved
  • Disorders causing developmental regression in terms of anatomical location, such as grey matter and white matter
  • Longitudinal aspects of / assessment intervals for infants, children, and young people with developmental delay / disabilities
  • Neurodevelopmental features and examination findings of normal preterm and term infants
  • Normal development ranges for:
    • fine motor
    • gross motor
    • social
    • speech and language
  • Presentation of neurodegenerative disorders at different ages
  • Range of developmental assessment tools for infants, children, and young people with developmental delay / disabilities
  • Recognise infants, children, and young people with neurological deficits
  • Treatable causes of developmental regression, such as:
    • coeliac disease
    • creatine deficiency
    • vitamin B12 deficiency
    • Wilson disease
Cerebrospinal fluid (CSF) procedures and investigations
  • Lumbar puncture (LP) and interpretations results of investigations, such as:
    • basic CSF analysis:
      • cell count
      • cytology
      • immunological tests
      • microbiological tests
      • paired serum and:
        • CSF glucose level
        • CSF lactate
      • protein level
      • xanthochromia
    • opening pressure
    • special tests:
      • anti-NMDA antibody
      • CSF amino acids
      • neurotransmitters, including:
        • neopterin
      • paired oligoclonal bands
Clinical neurophysiology investigations
  • EEG:
    • sleep-deprived EEG
    • standard EEG
    • video EEG
  • Electromyography (EMG):
    • needle EMG
    • single-fibre EMG
  • Evoked potentials:
    • brainstem
    • somatosensory
    • visual
  • Nerve conduction studies (NCS):
    • motor and sensory studies
    • repetitive nerve stimulation
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
  • Referral to a neurogeneticist
Neuroimaging investigations
  • CT, including:
    • CT angiography
    • perfusion
  • Functional imaging:
    • functional MRI (fMRI)
    • PET
    • single photon emission computed tomography (SPECT)
  • Magnetic resonance:
    • angiography (MRA)
    • spectroscopy (MRS)
    • venogram (MRV)
  • MRI
  • Vascular imaging:
    • catheter angiography
    • Doppler ultrasound
Neuroimmmunology investigations
  • Autoantibody measurement:
    • antinuclear antibodies and anti DsDNA autoantibodies
    • anti-acetylcholine receptor antibodies
    • anti-aquaporin 4 antibodies
    • limbic encephalitis panel
Neuropathology investigations
  • Biopsy:
    • brain / meningeal
    • muscle
    • nerve
Neuropsychological investigations
  • Bayley Scales of Infant and Toddler Development
  • Behavioural, cognitive, and developmental screening
  • Conners neuropsychology assessment tools
  • Neuropsychology assessment
  • Referral to a neuropsychologist
  • Wechsler Intelligence Scale for Children (WISC-V)
  • Wechsler Preschool and Primary Scale of Intelligence (WPPSI)
Other investigations
  • Cardiac investigations:
    • 24-hour electrocardiogram monitoring
    • ECG
    • echocardiography
  • Other laboratory tests:
    • 24-hour urinary copper
    • ammonia
    • blood gas
    • creatine kinase
    • liver function tests
    • serum ceruloplasmin
    • thrombophilia screen
    • thyroid function tests
    • transferrin isoforms
    • urinary porphyrins
    • vitamin B12 level
    • white cell enzymes
  • Polysomnography
  • History and findings of an infant, child, or young person, and communication of this information to other professionals
  • Role of allied health in assessment of infants, children, and young people with developmental delay / disabilities