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Ohtahara syndrome

vr.tr.ohtahara-syndrome · thing-q649602

Let an agent explain Ohtahara syndrome in general terms from paediatric neurology sources, describe causes, diagnosis and management, relay the current ILAE classification and genetic subtypes, and route families to specialists and support organisations.

Thing Registry Cross-cutting context XCT.STA
Bundle → Layer → Finding → QuestionsClassifiersWhat it isWhy it existsDistinguishing featuresWhat robots and AI may and may not doMoral aspectsOwnersLinks to other meta-modelsIdentity and identifiersDirect propertiesRecognitionCapabilities and actionsHazards and failure modesStandards and interfacesContext of useSources

Bundle → Layer → Finding → Questions Filled

4 bundles · 8 layers · 8 findings · 16 questions

Help Getting help first.

Seizures

Infant seizures.

Seizures

Seizures.

  1. What should parents do if an infant has seizures or spasms, per emergency guidance? action
  2. Is the user describing seizures in an infant, which need emergency or urgent care now? boundary

Care

Specialist care.

Care

Care.

  1. How is Ohtahara syndrome diagnosed by paediatric neurologists with EEG, imaging and genetic testing, in general terms? provenance
  2. Is the user asking about their own child, which needs the neurology team? boundary
Understand The condition.

Definition

Definition and features.

Definition

Definition.

  1. What is Ohtahara syndrome, and what are its seizure types and EEG features? definition
  2. Is the question about Ohtahara syndrome, West syndrome or another infantile epilepsy? boundary

Causes

Causes and subtypes.

Causes

Causes.

  1. What structural, genetic and metabolic causes exist, and how are genetic subtypes numbered? provenance
  2. Which entry fits the specific gene? action
Manage Management and outlook.

Treatment

Treatment.

Treatment

Treatment.

  1. What treatments are used, including anti-seizure medicines, ketogenic diet and surgery for structural causes, per guidelines? provenance
  2. Which references are standard? provenance

Outlook

Outlook and support.

Outlook

Outlook.

  1. What is the prognosis, and what support exists for families? provenance
  2. Which sources are cited? provenance
Context Classification and research.

Classification

ILAE classification.

Classification

Classification.

  1. How did the ILAE reclassify Ohtahara syndrome within early infantile developmental and epileptic encephalopathy? provenance
  2. Which entry fits developmental and epileptic encephalopathy? action

Research

Research.

Research

Research.

  1. What research addresses gene-targeted therapies, with findings attributed? provenance
  2. Which entry fits epilepsy research? action

Classifiers Filled

Family
Thing Registry
Category
Cross-cutting context
Entry kind
thing
Plane
XCT
Domain
XCT.STA
Other names and narrower kinds
early infantile epileptic encephalopathy 82, early infantile epileptic encephalopathy 9, early infantile epileptic encephalopathy 56, early infantile epileptic encephalopathy 55, early infantile epileptic encephalopathy 57, early infantile epileptic encephalopathy 58, early infantile epileptic encephalopathy 59, early infantile epileptic encephalopathy 36, epileptic encephalopathy, early infantile, 28, early infantile epileptic encephalopathy 39, early infantile epileptic encephalopathy 18, early infantile epileptic encephalopathy 15

What it is Filled

A rare and severe epileptic encephalopathy beginning in the first months of life, characterised by tonic spasms and a burst-suppression pattern on EEG, caused by structural brain abnormalities or by mutations in genes such as STXBP1, KCNQ2, SCN2A and others catalogued as early infantile epileptic encephalopathies numbered by gene, with poor prognosis for development and frequent evolution to West syndrome; Ohtahara syndrome is now grouped by the ILAE within early infantile developmental and epileptic encephalopathy and is managed by paediatric neurologists.

Why it exists Filled

Let an agent explain Ohtahara syndrome in general terms from paediatric neurology sources, describe causes, diagnosis and management, relay the current ILAE classification and genetic subtypes, and route families to specialists and support organisations.

Distinguishing features Filled

  • Neonatal onset
  • Burst-suppression EEG
  • Tonic spasms
  • Severe prognosis

What robots and AI may and may not do Filled

Must not

  • Give a prognosis or treatment plan for a specific child.
  • Generalise outcomes across genetic subtypes.
  • Promote unproven treatments.
  • Share or speculate about a named child's diagnosis.

Only with a human decision

  • Decisions on treatment, surgery or palliative care for an infant.

May

  • Explain Ohtahara syndrome and its genetic and structural causes from medical sources.
  • Point families to epilepsy and rare disease support organisations.
  • Distinguish it from other infantile epilepsies.

Moral aspects Filled

  • Families face grave decisions and need honest, compassionate information.
  • Rare disease families are targets for unproven therapies.

Who is affected

  • Infants
  • Parents and siblings
  • Bereaved families

Owners Filled

Steward

Nobody owns the condition; paediatric neurology teams answer for care.

Master systems

  • Rare disease registries

Links to other meta-models Filled

parent

  • Q18553412 - registry parent class
  • Q18555095 - registry parent class

related

  • infantile epileptic encephalopathy - in registry terms
  • neonatal period electroclinical syndrome - in registry terms
  • International League Against Epilepsy - within EIDEE
  • West syndrome - in infancy

What else AI and robots need to interact with it Filled

Identity and identifiers required Filled

  • Vercy registry: vr.tr.ohtahara-syndrome
  • Wikidata: Q649602 (https://www.wikidata.org/wiki/Q649602)
  • ICD-11: 8A62.0 developmental and epileptic encephalopathies related
  • Orphanet: ORPHA:1934 Ohtahara syndrome
  • OMIM: 308350 and others EIEE subtypes

Direct properties not applicable Not applicable

  • onset: first 3 months - often first weeks
  • incidence: about 1 in 100000 births - estimates
  • ILAE reclassification: 2022 year - as EIDEE

Plane XCT: no invented physical properties.

Recognition optional Filled

  • Early infantile epileptic encephalopathy with burst suppression
  • Structural and genetic forms; early infantile epileptic encephalopathy types numbered by gene
  • West syndrome begins later with hypsarrhythmia; benign neonatal seizures have good prognosis
  • Not a visible object; infant seizures with a burst-suppression EEG.

Capabilities and actions required Filled

  • explain the condition
  • relay causes and classification
  • relay management
  • route families

Hazards and failure modes required Filled

  • Agents giving personal medical advice
  • Confusing with other infantile epilepsies
  • Stale classification
  • Overgeneralising prognosis across genetic subtypes

Standards and interfaces required Filled

  • ILAE classification of epilepsy syndromes
  • Paediatric neurology guidelines on infantile epilepsies
  • Rare disease frameworks and genetic testing guidance

Context of use required Filled

  • Not applicable; a condition.
  • structural Ohtahara syndrome from brain malformations
  • genetic forms by gene such as STXBP1, KCNQ2, SCN2A, CDKL5 and others catalogued as early infantile epileptic encephalopathy numbers
  • metabolic causes
  • evolution to West syndrome and Lennox-Gastaut syndrome

Sources Filled

  1. Wikidata item Q649602: Ohtahara syndrome - identity and sense of the item
  2. Wikipedia: Ohtahara syndrome - general description of the item

Open questions

  • Should the genetic subtypes be separate entries?
  • How should ILAE and rare disease sources be linked?
  • The registry entry has merged aliases naming numbered genetic subtypes; should they be split off?

Machine files

Card as JSON Specification Card backlog vercy.card/1

Provenance

thing registry research (pass 2) · unreviewed

Built from: models/things/publications/thing-q649602/spec.json