Living with Intellectual developmental disorder with seizures and language delay
A genetic condition with delays in thinking and language, seizures, and behavior differences.
Understanding Intellectual developmental disorder with seizures and language delay
It causes delays in intellectual and language development in early childhood, and seizures that vary in start and type. Behavior differences can include hyperactivity, autism spectrum disorder, anxiety, and sleep disorders. Some people have different facial features, crossed eyes, or feeding difficulties.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Delayed speech and language
- Seizures
- Autistic behavior
- Anxiety
- Full cheeks and a flat back of the head
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes (mutations) in the SETD1B gene cause this condition. It is inherited in an autosomal dominant pattern, so one changed copy of the gene is enough. Most cases are new in a family (de novo).
Also known as: iddseld; setd1b-ndd; setd1b-related neurodevelopmental disorder
Patient organizations
- Epilepsy FoundationIntellectual developmental disorder with seizures and language delay · United States
- Simons SearchlightIntellectual developmental disorder with seizures and language delay · United States
You are more than your diagnosis
Perspectives from people navigating life with Intellectual developmental disorder with seizures and language delay.
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