Actionable Answers: Practical Guidance for Families Living with Pitt Hopkins Syndrome

Living with Pitt Hopkins syndrome can mean navigating a long list of questions.

Why has my child’s behavior suddenly changed? Could something be hurting them? Is this a seizure or a breathing spell? Why aren’t they sleeping? Is constipation contributing to their behavior? How can we help them communicate more effectively? What should we be asking our doctors?

For families, these questions can be overwhelming — particularly because Pitt Hopkins syndrome affects each individual differently and many of its symptoms can overlap or influence one another.

At the Pitt Hopkins Research Foundation’s 2026 Conference, Jessica Duis, MD, MS, shared practical strategies for families and clinicians based on her experience caring for individuals with Pitt Hopkins syndrome. Her family presentation, Actionable Answers: Practical Strategies for Helping Your Child with Pitt Hopkins Syndrome Thrive, focused on real-world strategies families can discuss with their medical, therapy and school teams. Her companion clinician presentation, Pitt Hopkins Syndrome for the Practicing Clinician: Natural History and Management of Complex Cases, explored the challenges of recognizing and managing PTHS across the lifespan.

Dr. Duis’ clinical experience includes caring for patients with PTHS from around the world. In her presentation, she reported seeing 63 individuals with PTHS over the previous year, with more than half of those visits involving adults with PTHS.

The information below summarizes key themes and practical guidance from those presentations.

A Message for Every PTHS Family: You Know Your Child Best

One of the most important messages from Dr. Duis is simple:

Trust what you are seeing.

Families may notice that something is different long before they have an explanation for it. In Dr. Duis’ experience, parents often first noticed developmental concerns, low muscle tone, reduced movement, feeding difficulties, excessive crying or a child falling behind expected milestones.

Her presentation also highlighted the gap that can exist between when families first recognize that something isn’t right and when a diagnosis is ultimately made. In the group of patients discussed in her presentation, the average age when families first became concerned was approximately 5.8 months, while the average age at diagnosis was approximately 3.1 years.

For families who have experienced that uncertainty, the message is reassuring: you were not imagining it, and you were not wrong to be concerned.

Dr. Duis encourages families to bring their observations and questions to their medical teams and to continue advocating when something doesn’t seem right. As she puts it in her family presentation, families should take what applies to their child, leave what doesn’t, and bring their questions.

Communication

Communication: Start Early — and Don’t Wait for “Ready”

Communication is one of the most important areas for children and adults with Pitt Hopkins syndrome.

Dr. Duis recommends starting communication support early rather than waiting for a child to demonstrate that they are “ready” for a formal augmentative and alternative communication (AAC) system.

That can mean starting with picture cards, simple communication boards or other low-tech tools while a more formal AAC system is being evaluated or developed. Communication goals can also be incorporated into a child’s Individualized Education Program (IEP), helping ensure that communication strategies are not limited to the home.

Consistency matters

A communication system is most useful when everyone uses it.

Families, teachers, therapists and caregivers should work toward using the same system consistently across settings. A child shouldn’t have one way to communicate at home and a completely different expectation at school.

Dr. Duis also emphasizes modeling communication rather than simply prompting it. Parents and caregivers can use the communication device or board themselves while narrating what they are doing. The goal is to demonstrate how communication works rather than only asking the child to produce a particular response.

Presentations from past conferences:

A Family’s Journey with AAC – Jessica Fletcher

Beyond Requesting: Why Literacy Matters & How to Get There – Audrey Lapidus

Questions to discuss with your team

Does my child have an effective way to communicate wants, needs, pain and discomfort?
Should we introduce or expand AAC?
Can communication goals be added to the IEP?
Are the same communication strategies being used at home, school and therapy?
Are we modeling the communication system enough?

GI & Feeding

GI & Feeding: Look Beyond Constipation

Gastrointestinal problems can have a significant impact on quality of life for individuals with Pitt Hopkins syndrome.

Dr. Duis’ presentations emphasize looking at GI concerns as part of the larger picture rather than treating constipation or feeding problems as isolated issues.

Some of the practical strategies discussed include movement routines, consistent daily routines, dietary review, adequate hydration and fiber, and addressing reflux. The presentations also discuss magnesium, probiotics and MCT or coconut oil as approaches that some families discuss with their medical teams.

Movement can be particularly practical. Dr. Duis specifically discusses activities such as leg bicycling and core exercises as part of a routine for supporting GI function.

For families dealing with persistent or severe constipation, Dr. Duis also discusses stimulant laxatives such as senna when directed by a medical professional and the possibility of an appendicostomy/Malone procedure (MACE) for individuals who continue to require frequent enemas or suppositories.

Why GI problems matter beyond the GI system

GI discomfort can be difficult to recognize in someone who has limited communication. Pain or discomfort may show up instead as:

Irritability
Changes in behavior
Poor sleep
Increased crying
Changes in appetite
Increased breathing or behavioral episodes

This is one reason Dr. Duis emphasizes looking for connections between symptoms rather than treating each symptom independently.

Questions to discuss with your team

Could constipation, reflux or another GI problem be contributing to a change in behavior?
Is my child’s current bowel regimen working effectively?
Are there ways to reduce the need for frequent enemas or suppositories?
Should we evaluate feeding or swallowing concerns?
Could a GI specialist with experience in complex constipation or motility disorders be helpful?

Sleep

Sleep: Rule Out the Cause, Then Build a Routine

Sleep problems are common concerns for many families, but Dr. Duis encourages families to first ask why sleep has changed.

Before assuming that a child simply has a sleep problem, consider whether something else is interfering with sleep.

Possible contributors discussed in the presentation include:

GI discomfort
Pain
Reflux
A change in routine
A change in environment
A new stressor

Once other contributors have been considered, Dr. Duis recommends building a predictable sleep routine with consistent bedtime cues and wind-down strategies.

For some children, an enclosed or safety-modified bed may also be helpful.

Medication may be necessary for some children, particularly school-age children. Dr. Duis emphasizes that needing medication for sleep is common and not a failure.

Questions to discuss with your team

Could pain, constipation or reflux be interfering with sleep?
Has anything changed recently in my child’s routine or environment?
Do we have a consistent bedtime routine?
Is my child’s sleeping environment safe?
Should we discuss behavioral or medication-based sleep support?

Behavior

Behavior & Mood: Ask “What Changed?”

When a child with Pitt Hopkins syndrome suddenly behaves differently, one of the most useful questions may be:

What changed?

Dr. Duis encourages families and clinicians to look for an underlying cause before assuming that a new behavior is simply behavioral.

Potential contributors include pain, illness, GI discomfort, changes in routine, a new teacher or aide, or another change in the child’s environment.

For someone who cannot easily tell you that their stomach hurts, that they are experiencing reflux, or that something at school has changed, behavior may be the way they communicate that something is wrong.

Build structure

Visual schedules, consistent routines and reliable communication systems can help reduce frustration and make expectations more predictable.

Dr. Duis also highlights behavioral therapy and occupational therapy as important tools. Medication can have a role when appropriate, but her approach is to address environmental and therapeutic factors first and then layer medication on when needed, starting with thoughtful dosing and reassessment. She recommends titrating medications slowly and starting at a low dosage.

Questions to discuss with your team

What changed before this behavior started?
Could my child be in pain?
Could GI problems be contributing?
Has something changed at school?
Is my child able to communicate what they need?
Would behavioral therapy or occupational therapy help?

Breathing

Breathing Abnormalities: Know When to Investigate

Breathing abnormalities are a recognized concern in Pitt Hopkins syndrome, and families may become very familiar with episodes of hyperventilation or other unusual breathing patterns.

Dr. Duis recommends paying attention to whether breathing episodes interfere with daily activities and whether there appears to be a specific trigger or source of distress. Her presentations also discuss several medications that clinicians may consider in certain circumstances when breathing episodes are frequent or disruptive.

Don’t overlook swallowing and aspiration

Another important concern raised by Dr. Duis is silent aspiration.

Someone may aspirate without producing the obvious coughing or choking that families typically associate with aspiration. Her clinician presentation notes concern about dysphagia and silent aspiration, particularly in the context of long-term pulmonary health. The presentation discusses considering imaging and an aggressive pulmonary regimen when clinically appropriate.

If you have concerns about swallowing, recurrent respiratory problems, unexplained changes in breathing or other pulmonary symptoms, talk with your child’s medical team.

Seizures

Seizures, Breath-Holding Spells or Stereotypies?

One of the most challenging issues in Pitt Hopkins syndrome can be figuring out exactly what is happening during an unusual episode.

A child may have movements, changes in breathing, eye movements, falls or altered behavior that could potentially represent different things.

Dr. Duis’ clinician presentation specifically discusses the challenge of distinguishing seizures, breath-holding spells and stereotypies.

Take a video.

This may be one of the simplest and most valuable recommendations from the entire presentation.

If your child has an episode that concerns you, safely record it when possible and share the video with the medical team. A video can provide information that is difficult to communicate through words alone.

Dr. Duis also emphasizes that a normal EEG does not necessarily rule out seizures when the clinical concern remains.

Her presentation notes that seizures were present in approximately 20% of the individuals in her clinical experience and recommends prompt evaluation of repeated concerning episodes. She also emphasizes that families should have a rescue medication plan and know how to use it.

Levetiracetam (Keppra) is not often well tolerated for those with Pitt Hopkins, with common side effects including behavior changes and difficult sleeping. Dr. Duis recommends avoiding if possible.

Lamotrigine (Lamictal), brivaracetam (Briviact) and oxcarbazepine (Trileptal) are often well-tolerated, but consult with your child’s neurologist for what is best for him/her.

Questions to discuss with your team

Could this episode be a seizure?
Could it be a breath-holding spell or stereotypy?
Can I capture an episode on video?
Does my child need additional seizure evaluation?
Do we have a seizure rescue plan?
Does everyone who cares for my child know what to do during an emergency?

Supplements

Supplements: Information to Discuss With Your Medical Team

Families frequently ask about supplements that might help with sleep, GI function, mood or behavior.

Dr. Duis’ family presentation includes several supplements and compounds that families commonly ask about, including:

These were presented as starting points for conversations with a medical team — not as prescriptions.

Different supplements can have different effects, interactions, risks and quality concerns. CBD, in particular, can have legal and product-quality considerations that vary by location.

Before starting a supplement

Talk with your child’s physician or pharmacist about:

Why you are considering it
What benefit you hope to see
Appropriate dosing
Potential side effects
Possible interactions with medications
How long to try it
How you will determine whether it is actually helping

Adults with PTH

Pitt Hopkins Syndrome Doesn’t End at 18

Pitt Hopkins syndrome is a lifelong condition, and the questions families face can change considerably as their child becomes an adult.

Dr. Duis’ recent clinical experience includes a substantial number of adults with PTHS. In her presentation, she identified new or unexplained behaviors, severe GI distress and gut dysmotility, and spine pathology among concerns that may arise in adults.

At the same time, there is still much that researchers and clinicians do not understand about the natural history of Pitt Hopkins syndrome in adulthood.

That makes continued observation, documentation, research and communication between families and medical teams particularly important.

Families shouldn’t assume that a new symptom is simply “part of Pitt Hopkins” or something that must be accepted. A meaningful change deserves attention.

Watch the full presentation below.

If You Remember Nothing Else

Video what you don’t understand.

If you see an unusual movement, breathing episode, seizure-like event or other behavior that concerns you, safely record it when possible. A video can be extremely helpful to your medical team.

Look for the “why.”

When behavior, sleep or mood changes, consider pain, GI problems, illness, communication frustration, changes at school or other environmental changes. You know your child best and will be best at recognizing when things are different than baseline.

Start communication support early.

Don’t wait for your child to be “ready.” Explore communication supports and work toward consistent use across home, school and therapy. Like a neurotypical child, your child shouldn’t have to prove they are ‘ready’ to communicate – presume they are and give them opportunities to show what they are able to.

Think about symptoms as connected.

GI problems, sleep, behavior, breathing, pain and communication can influence one another. Look for symptom cycling and how one issue may be causing several symptoms – i.e. constipation causing pain, behavior issues, irritability, poor sleep, and not wanting to eat/drink.

Trust your knowledge of your child.

You are an essential member of your child’s medical team. If something doesn’t seem right, speak up and ask questions.

A Note About This Information

The Pitt Hopkins Research Foundation is providing this information as an educational resource for families and caregivers.

The information on this page summarizes material presented by Jessica Duis, MD, MS, during the Pitt Hopkins Research Foundation’s 2026 Conference. It is intended to help families understand topics they may wish to discuss with their child’s healthcare providers.

This information is not medical advice, a diagnosis, or a substitute for individualized medical care. Every individual with Pitt Hopkins syndrome is different, and treatments that may be appropriate for one person may not be appropriate for another.

Some of the information presented by Dr. Duis includes specific medications, supplements, diagnostic testing and medical procedures. These should only be considered or undertaken in consultation with an appropriately qualified healthcare professional who understands the individual’s medical history and needs. Families should not start, stop or change medications or supplements based solely on information contained on this page.

If your child or adult loved one is experiencing a new, severe or rapidly worsening medical symptom — particularly difficulty breathing, loss of consciousness, prolonged or repeated seizure-like activity, or another medical emergency — seek immediate medical attention.

The Pitt Hopkins Research Foundation does not endorse or recommend any particular medication, supplement, medical procedure, physician or treatment based solely on the information presented here.