Living with Pitt-Hopkins-like syndrome
A rare genetic condition with severe intellectual disability, no speech, breathing episodes and early-onset seizures.
Understanding Pitt-Hopkins-like syndrome
Motor development is normal or only mildly delayed. People may have episodes of unusual breathing, early-onset seizures and a wide mouth. Unusual sleep-wake cycles, autism-like behavior and repeated movements often occur too.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Severe intellectual disability
- No speech
- Episodes of unusual breathing
- Seizures starting early in life
- Unusual sleep-wake cycles
- Autism-like behavior and repeated movements
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
Pitt Hopkins Research 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: Pitt Hopkins Research 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 Pitt Hopkins Research Foundation
- 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
GARD says this is a genetic condition but doesn't name a gene or describe an inheritance pattern.
Also known as: pthsl
Patient organizations
- Pitt Hopkins Research FoundationPitt-Hopkins-like syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Pitt-Hopkins-like syndrome.
Explore research for Pitt-Hopkins-like syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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