Podcast
Questions and Answers
Which of the following genetic conditions is NOT included in the epilepsy gene panel for infants?
Which of the following genetic conditions is NOT included in the epilepsy gene panel for infants?
What is the main purpose of whole exome sequencing in infants presenting with epilepsy?
What is the main purpose of whole exome sequencing in infants presenting with epilepsy?
What is a common challenge in diagnosing seizures in infants?
What is a common challenge in diagnosing seizures in infants?
Which online resource mentioned is used to compile phenotypic information on genetic disorders?
Which online resource mentioned is used to compile phenotypic information on genetic disorders?
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Which of these conditions could mimic a seizure but is classified as a nonepileptic event?
Which of these conditions could mimic a seizure but is classified as a nonepileptic event?
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What type of events can mimic seizures due to cardiovascular dysfunction?
What type of events can mimic seizures due to cardiovascular dysfunction?
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Which statement correctly describes the role of clinical history in seizure diagnosis?
Which statement correctly describes the role of clinical history in seizure diagnosis?
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What condition is characterized by a transient improvement in glucose transporter deficiency during acute hyperglycemia?
What condition is characterized by a transient improvement in glucose transporter deficiency during acute hyperglycemia?
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Which of the following is NOT a characteristic of true epileptic events?
Which of the following is NOT a characteristic of true epileptic events?
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Which of the following is a key feature of familial GLUT1 deficiency?
Which of the following is a key feature of familial GLUT1 deficiency?
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What rare cause of familial idiopathic epilepsy was identified in recent studies?
What rare cause of familial idiopathic epilepsy was identified in recent studies?
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What type of genetic testing is discussed in relation to epilepsies?
What type of genetic testing is discussed in relation to epilepsies?
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What is highlighted as an emerging role in early-life epilepsies according to recent studies?
What is highlighted as an emerging role in early-life epilepsies according to recent studies?
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What is the primary basis for diagnosing seizures?
What is the primary basis for diagnosing seizures?
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What characterizes unprovoked seizures?
What characterizes unprovoked seizures?
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Which of the following is NOT a criterion for the diagnosis of epilepsy?
Which of the following is NOT a criterion for the diagnosis of epilepsy?
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What is true about provoked seizures?
What is true about provoked seizures?
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Which statement about the resolution of epilepsy in children is correct?
Which statement about the resolution of epilepsy in children is correct?
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What does an epilepsy syndrome indicate?
What does an epilepsy syndrome indicate?
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What distinguishes provoked seizures from unprovoked seizures?
What distinguishes provoked seizures from unprovoked seizures?
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Which factor is usually considered after the initial evaluation when diagnosing seizures?
Which factor is usually considered after the initial evaluation when diagnosing seizures?
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What MRI sequences should be included for children less than one year of age?
What MRI sequences should be included for children less than one year of age?
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What percentage of children with a first unprovoked seizure had significant MRI abnormalities in a specific case series?
What percentage of children with a first unprovoked seizure had significant MRI abnormalities in a specific case series?
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What is a potential benefit of magnetic resonance spectroscopy in children with epilepsy?
What is a potential benefit of magnetic resonance spectroscopy in children with epilepsy?
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What MRI abnormalities are associated with a higher likelihood of medical intractability in children with temporal lobe epilepsy?
What MRI abnormalities are associated with a higher likelihood of medical intractability in children with temporal lobe epilepsy?
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When should a follow-up MRI study be considered for children less than two years of age with persistent seizures?
When should a follow-up MRI study be considered for children less than two years of age with persistent seizures?
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Which statement about the utility of EEG in children with epilepsy is correct?
Which statement about the utility of EEG in children with epilepsy is correct?
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Which imaging technique is better at identifying calcifications due to congenital infections?
Which imaging technique is better at identifying calcifications due to congenital infections?
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Which of the following structural abnormalities is not commonly found on MRI in children with epilepsy?
Which of the following structural abnormalities is not commonly found on MRI in children with epilepsy?
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What is the primary reason many laboratories practice sleep deprivation before an EEG?
What is the primary reason many laboratories practice sleep deprivation before an EEG?
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What is the ideal timing for obtaining an EEG after a seizure?
What is the ideal timing for obtaining an EEG after a seizure?
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What was the finding regarding the diagnostic yield of initially normal EEGs when repeated with sleep deprivation?
What was the finding regarding the diagnostic yield of initially normal EEGs when repeated with sleep deprivation?
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Which condition is noted as having seizures primarily in the morning?
Which condition is noted as having seizures primarily in the morning?
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Why can sleep deprivation be challenging for parents and caregivers during an EEG?
Why can sleep deprivation be challenging for parents and caregivers during an EEG?
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What percentage of initially normal EEGs was found to have epileptiform abnormalities upon a repeat EEG with sleep deprivation in one study?
What percentage of initially normal EEGs was found to have epileptiform abnormalities upon a repeat EEG with sleep deprivation in one study?
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What is the consequence of performing more than three repeat EEGs?
What is the consequence of performing more than three repeat EEGs?
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What does postictal slowing on an EEG indicate?
What does postictal slowing on an EEG indicate?
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What aspect of history is crucial when assessing an infant or child with possible seizures?
What aspect of history is crucial when assessing an infant or child with possible seizures?
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Which type of neuroimaging is recommended for infants with new-onset focal seizures?
Which type of neuroimaging is recommended for infants with new-onset focal seizures?
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Which aspect should be included in the general medical examination of a child suspected of having seizures?
Which aspect should be included in the general medical examination of a child suspected of having seizures?
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What is the role of EEG in the evaluation of children suspected of seizures?
What is the role of EEG in the evaluation of children suspected of seizures?
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When is immediate or urgent neuroimaging indicated for children with seizures?
When is immediate or urgent neuroimaging indicated for children with seizures?
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Which of the following elements is NOT emphasized in the evaluation of a child suspected to have epilepsy?
Which of the following elements is NOT emphasized in the evaluation of a child suspected to have epilepsy?
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What aspect of the EEG can enhance its diagnostic yield?
What aspect of the EEG can enhance its diagnostic yield?
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What should be prioritized in a child's medical history when evaluating for epilepsy?
What should be prioritized in a child's medical history when evaluating for epilepsy?
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Study Notes
Seizures and Epilepsy in Children: Clinical and Laboratory Diagnosis
- This review discusses aspects of physical and neurological examination, imaging, and laboratory investigation relevant to diagnosing infant and child seizures or epilepsy.
- Other aspects of seizures are covered in separate topics like classification, etiology, and clinical features; epilepsy syndromes in children; initial treatment and monitoring; refractory seizures; and comorbidities, complications, and epilepsy outcomes in children/adolescents
Neonatal Seizures
- Neonatal seizures are detailed elsewhere and include clinical features, evaluation, and diagnosis.
- Topics involving neonatal seizures include treatment, etiology, and prognosis.
Pediatric Neurologic Exam, Acute Illnesses, and Febrile Seizures
- Detailed pediatric neurological examinations are separately discussed.
- This also includes acute illnesses accompanied by seizures and febrile seizures.
- Clinical features, evaluation, and diagnosis of febrile seizures are separately detailed.
Goals of Evaluation
- Determining if an episode is a seizure or a non-epileptic event.
- Assessing if a seizure is acute (e.g., fever-provoked) or unprovoked (e.g., due to an underlying brain lesion).
- Identifying the type of seizure (e.g., focal, generalized).
- Determining if the presentation fits an epilepsy syndrome.
- Identifying the most likely etiology (e.g., genetic, developmental).
Initial Assessment (History)
- History aims to characterize the event as a seizure and rule out alternative diagnoses.
- Determining past similar events and risk factors is crucial.
- Important to obtain a detailed account of the child's behavior preceding the episode.
Setting of Episodes
- Most seizures occur randomly, without warning.
- Some nonepileptic spells have characteristic precipitating circumstances.
- Important to determine the time of day and activity before a seizure.
- Examples to consider include: nighttime/nocturnal seizures, medication use (prescription and herbal), illness & fever, acute medical incidents
Behavior Prior to Seizure
- Environmental stimuli (like sound or touch) can sometimes provoke seizures.
- Obtaining a history of events leading to a seizure is vital.
Behavior During and After the Seizure
- Describing behavior during the seizure is critical to diagnosis.
- Examples include limb movements, communication, and awareness.
- Important to assess behavior after the seizure (postictal state), including level of consciousness, confusion, and ability to communicate.
- Presence of 'focal findings' (such as hemiparesis) is helpful for localization.
Other History Elements
- Developmental history (plateaus, loss of milestones) is important.
- Previous illnesses (e.g., meningitis) are relevant.
- Family history (consanguinity, inherited disorders) is crucial.
- Details about drug (prescription and illicit) use should be sought from teenagers.
Examination
- Eye examination is important with attention to congenital defects, retinal changes, signs of infection and early infections.
- Neurological examination assesses for sustained head/eye deviation, focal myoclonus, automatisms, and other physical findings.
- Cardiac examination (ECG) is important if cardiac issues are suspected, and abdominal examination can reveal liver/spleen enlargement suggestive of a storage disease.
- Skin examination, including examination for skin lesions (e.g., ash-leaf spots in tuberous sclerosis) and the presence of any hypopigmentation, are vital.
Laboratory and Genetic Testing
- Rapid glucose testing is initially important.
- Other blood and/or urine tests (electrolytes, liver/kidney functions, calcium, magnesium, toxicology, and more) may be necessary depending on the situation.
- Genetic testing relevant to the clinical context.
Neuroimaging
- MRI is generally preferred over CT scans, especially in initial evaluations.
- Imaging is especially important if focal seizures or new neurologic findings present.
Electroencephalography (EEG)
- EEG supports the diagnosis of epilepsy.
- EEG can aid in determining seizure type and epilepsy syndrome.
- An EEG is generally done both awake and during sleep.
- Sleep-deprived EEG might be indicated for suspected cases.
Importance of Additional Investigations
- If clinical history, imaging and EEG do not give a cause, additional evaluation for metabolic, genetic, or immune-mediated disorders might be required.
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Description
Test your knowledge with this quiz focused on genetic conditions and diagnostic challenges in infant epilepsy. Explore whole exome sequencing, phenotypic information resources, and the nuances of seizure classification. Ideal for students and professionals in genetics and pediatric neurology.