Epilepsy in Infants: Genetic Insights
45 Questions
0 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

Which of the following genetic conditions is NOT included in the epilepsy gene panel for infants?

  • West syndrome
  • Cystic fibrosis (correct)
  • Alpers disease
  • Angelman syndrome
  • What is the main purpose of whole exome sequencing in infants presenting with epilepsy?

  • To sequence the entire exome for comprehensive analysis (correct)
  • To focus specifically on neurological abnormalities
  • To identify specific genes causing known epileptic conditions
  • To diagnose only known epilepsy syndromes
  • What is a common challenge in diagnosing seizures in infants?

  • Infants showing no signs of illness
  • High incidence of confirmed seizures
  • Lack of modern diagnostic tools
  • Difficulty distinguishing between epileptic and nonepileptic events (correct)
  • Which online resource mentioned is used to compile phenotypic information on genetic disorders?

    <p>Genetic Testing Registry</p> Signup and view all the answers

    Which of these conditions could mimic a seizure but is classified as a nonepileptic event?

    <p>Neonatal hypoglycemia</p> Signup and view all the answers

    What type of events can mimic seizures due to cardiovascular dysfunction?

    <p>Episodic dizziness</p> Signup and view all the answers

    Which statement correctly describes the role of clinical history in seizure diagnosis?

    <p>It is crucial for accurately diagnosing seizures.</p> Signup and view all the answers

    What condition is characterized by a transient improvement in glucose transporter deficiency during acute hyperglycemia?

    <p>GLUT1 deficiency syndrome</p> Signup and view all the answers

    Which of the following is NOT a characteristic of true epileptic events?

    <p>Complete absence of any prior history</p> Signup and view all the answers

    Which of the following is a key feature of familial GLUT1 deficiency?

    <p>Absence epilepsies with variable onset</p> Signup and view all the answers

    What rare cause of familial idiopathic epilepsy was identified in recent studies?

    <p>GLUT1 mutations</p> Signup and view all the answers

    What type of genetic testing is discussed in relation to epilepsies?

    <p>Clinical gene panels</p> Signup and view all the answers

    What is highlighted as an emerging role in early-life epilepsies according to recent studies?

    <p>Genetic testing</p> Signup and view all the answers

    What is the primary basis for diagnosing seizures?

    <p>Clinical history</p> Signup and view all the answers

    What characterizes unprovoked seizures?

    <p>They occur spontaneously and expected to recur in the absence of treatment.</p> Signup and view all the answers

    Which of the following is NOT a criterion for the diagnosis of epilepsy?

    <p>A history of provoked seizures only</p> Signup and view all the answers

    What is true about provoked seizures?

    <p>They result from identifiable proximate causes.</p> Signup and view all the answers

    Which statement about the resolution of epilepsy in children is correct?

    <p>Epilepsy is resolved if the patient is older than the active age of the syndrome.</p> Signup and view all the answers

    What does an epilepsy syndrome indicate?

    <p>A collection of conditions causing unprovoked seizures</p> Signup and view all the answers

    What distinguishes provoked seizures from unprovoked seizures?

    <p>Provoked seizures have identifiable proximate causes.</p> Signup and view all the answers

    Which factor is usually considered after the initial evaluation when diagnosing seizures?

    <p>Neuroimaging and lab studies</p> Signup and view all the answers

    What MRI sequences should be included for children less than one year of age?

    <p>Sagittal, axial, and coronal high-resolution T2-weighted sequences</p> Signup and view all the answers

    What percentage of children with a first unprovoked seizure had significant MRI abnormalities in a specific case series?

    <p>16 percent</p> Signup and view all the answers

    What is a potential benefit of magnetic resonance spectroscopy in children with epilepsy?

    <p>It can distinguish neoplasm from dysplasia.</p> Signup and view all the answers

    What MRI abnormalities are associated with a higher likelihood of medical intractability in children with temporal lobe epilepsy?

    <p>Hippocampal sclerosis, tumor, cortical dysplasia</p> Signup and view all the answers

    When should a follow-up MRI study be considered for children less than two years of age with persistent seizures?

    <p>After 30 months of age</p> Signup and view all the answers

    Which statement about the utility of EEG in children with epilepsy is correct?

    <p>Every child with unexplained seizures should have an EEG awake and while sleeping.</p> Signup and view all the answers

    Which imaging technique is better at identifying calcifications due to congenital infections?

    <p>CT scan</p> Signup and view all the answers

    Which of the following structural abnormalities is not commonly found on MRI in children with epilepsy?

    <p>Chronic inflammatory diseases</p> Signup and view all the answers

    What is the primary reason many laboratories practice sleep deprivation before an EEG?

    <p>To increase the chances of detecting epileptiform discharges</p> Signup and view all the answers

    What is the ideal timing for obtaining an EEG after a seizure?

    <p>As soon as possible, preferably within 24 hours</p> Signup and view all the answers

    What was the finding regarding the diagnostic yield of initially normal EEGs when repeated with sleep deprivation?

    <p>An increase of 11 percent in abnormal results was found</p> Signup and view all the answers

    Which condition is noted as having seizures primarily in the morning?

    <p>Juvenile myoclonic epilepsy</p> Signup and view all the answers

    Why can sleep deprivation be challenging for parents and caregivers during an EEG?

    <p>Sleep-deprived children may be more difficult to manage</p> Signup and view all the answers

    What percentage of initially normal EEGs was found to have epileptiform abnormalities upon a repeat EEG with sleep deprivation in one study?

    <p>35 percent</p> Signup and view all the answers

    What is the consequence of performing more than three repeat EEGs?

    <p>It provides little additional information</p> Signup and view all the answers

    What does postictal slowing on an EEG indicate?

    <p>Nonspecific background abnormalities</p> Signup and view all the answers

    What aspect of history is crucial when assessing an infant or child with possible seizures?

    <p>Frequency and duration of the episodes</p> Signup and view all the answers

    Which type of neuroimaging is recommended for infants with new-onset focal seizures?

    <p>Computed tomography (CT)</p> Signup and view all the answers

    Which aspect should be included in the general medical examination of a child suspected of having seizures?

    <p>Skin examination</p> Signup and view all the answers

    What is the role of EEG in the evaluation of children suspected of seizures?

    <p>It helps define the epilepsy syndrome and directs therapy</p> Signup and view all the answers

    When is immediate or urgent neuroimaging indicated for children with seizures?

    <p>When there is prolonged altered mental status following an event</p> Signup and view all the answers

    Which of the following elements is NOT emphasized in the evaluation of a child suspected to have epilepsy?

    <p>Siblings' academic performance</p> Signup and view all the answers

    What aspect of the EEG can enhance its diagnostic yield?

    <p>Obtaining tracing in both awake and sleep states</p> Signup and view all the answers

    What should be prioritized in a child's medical history when evaluating for epilepsy?

    <p>History of drug use, both prescription and illicit</p> Signup and view all the answers

    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.

    Studying That Suits You

    Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

    Quiz Team

    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.

    More Like This

    Infant Health and Pregnancy Guidelines
    48 questions
    Infant Care and Neurological Health
    97 questions
    Infant Temperament and Attachment Quiz
    6 questions
    Convulsions in Infants and Children
    5 questions
    Use Quizgecko on...
    Browser
    Browser