Evidence-based clinician guide
Practical, strengths-based guidance for supporting families of children with developmental and epileptic encephalopathies (DEEs), from first diagnosis through to ongoing care.
This guide is designed for paediatric neurologists, paediatricians, allied health professionals, nurse specialists, genetic counsellors and general practitioners. It translates the best available evidence into actions, language and trusted resources that can be used in clinical practice.
Section 1
Families frequently describe the diagnostic period as deeply distressing and, for some, traumatic. Studies show that parents of children with epilepsy experience high rates of post-traumatic stress symptoms, anxiety, depression and acute stress responses. 1, 2 Clinicians should approach these conversations with sensitivity, pacing and validation.
Information about the suspected or confirmed DEE, including what is known and what remains uncertain.
Guidance covering what this means for daily life, safety, school and family functioning—not only medical information.
Time to absorb information and ask questions without feeling rushed.
Immediate connection to patient organisations and reputable websites. Families report these as their most valued support.
Support for siblings and grandparents, who often have their own questions and anxieties.
Prepare the conversation carefully, support families during the appointment and make the next steps clear before they leave.
Before the appointment
During the appointment
Before they leave
These examples can help clinicians explain the situation, acknowledge uncertainty and create space for questions.
Explaining the diagnosis“We’re seeing symptoms that align with a group of conditions called developmental and epileptic encephalopathies. Here’s what that means, and here’s what we’re looking for next.”
Acknowledging uncertainty“There’s still information we don’t have yet. I’ll walk you through what we’re doing to find answers.”
Creating space“Take your time. This is a lot. What questions do you have right now?”
Connecting to support“[Name of patient organisation] has excellent resources written by families. Here are some trusted websites I recommend.”
Up to 50% of patients with a DEE remain undiagnosed. 3 Without a confirmed label, families often feel as though they have no clear place of belonging.
Lack of diagnosis can intensify stress. Validate this directly:
“It’s completely understandable to feel unsettled when we don’t yet have a clear diagnosis. Many families describe this phase as emotionally heavy.”
For more on genetic testing pathways, read this article by Associate Professor Elizabeth Palmer .
A plain-language summary is a short, easy-to-understand explanation of the condition. It avoids jargon, uses everyday language and focuses on what families need during the early diagnostic phase.
Examples of existing summaries
Section 2
The list below will never be complete, as new DEE genes are constantly being discovered. Use it as a first point of reference. Many developmental and epileptic encephalopathies will not have a dedicated patient organisation. In these cases, use the condition-agnostic organisations.
These organisations provide support across epilepsy, genetic conditions or rare conditions more broadly, including when there is not yet a diagnosis or a dedicated condition-specific group.
National epilepsy support
Education and community
Rare genetic conditions
Genetic Epilepsy Team Australia
National rare disease peak body
These organisations provide information and connection relating to particular genes, syndromes or conditions associated with developmental and epileptic encephalopathies.
Australia
Australia
All organisation links open in a new browser tab.
Section 3
These Australian and international resources provide reliable information about rare conditions, developmental and epileptic encephalopathies, genetic health care, family support, professional education and research.
Australia’s national peak body for people living with rare diseases. Provides policy updates, advocacy and links to Australia-specific supports and services.
Useful resources
A state-based network focused on community support and awareness. Offers information, networking opportunities and signposting to NSW-specific services, events and supports.
Useful resources
A European network of specialised epilepsy centres. Offers up-to-date rare epilepsy information and expert-reviewed resources trusted internationally.
Useful resources
An Australian government-supported resource offering genetics-based fact sheets on childhood syndromes. Clinically accurate, simple explanations for rare genetic conditions, inheritance patterns and developmental impacts.
Useful resource
An international clinician-facing resource providing clinically relevant and medically actionable information about genetic conditions. Regularly updated, with new conditions continually being added. Widely used by clinical geneticists and genetic counsellors.
Useful resource
A reputable United States-based rare disease database. Provides clear, medically reviewed condition summaries for thousands of rare conditions, including many DEEs.
Useful resource
National epilepsy organisation providing education, first-aid materials and support services. A trusted place to direct families for seizure first-aid guidance, safety information and community support.
Useful resources
A NSW-based clinical network supporting paediatric clinicians, families and services caring for children with complex medical and developmental needs. Provides family-friendly education and wellbeing resources, coping strategies, grounding tools and guidance for navigating the emotional and practical challenges of caring for a child with a complex condition.
Useful resources
A United States-based collaborative, patient-driven network bringing together rare epilepsy organisations, families, clinicians and researchers. Provides accessible information about rare epilepsies, updates on research initiatives and opportunities to participate in collaborative projects.
Useful resources
All resource links open in a new browser tab.
Section 5
Family members of children with developmental and epileptic encephalopathies experience high levels of stress, exhaustion and anxiety. Proactive attention to caregiver wellbeing is essential and directly affects their capacity to sustain long-term care.
Gently open the conversation“I want to check in with you as well. How are you coping at the moment?”
Normalise“Caring for a child with complex needs is emotionally heavy. Feeling overwhelmed at times is a completely human response.”
Offer options without pressure“If you ever want to talk to someone, I can help arrange psychology or counselling. Short practical tools, breathing resets, sleep advice and coping strategies can make a real difference.”
Signpost low-barrier resources“If you prefer something you can explore in your own time, these short videos have practical tools many parents find helpful.”
Finding a Way video series
Respond with validation before moving into problem-solving. Clarify what kind of support would be most useful now.
Acknowledge the courage“I really appreciate you telling me this. It takes strength to speak up.”
Clarify what they need“Are you looking for emotional support, practical coping strategies, or someone to talk to regularly? What feels hardest at the moment?”
Match the pathway to the carer’s priorities, preferred level of support and readiness to engage.
| Type | Access | Cost |
|---|---|---|
| GP Mental Health Care Plan | GP referral | Medicare — up to 10 sessions per year |
| Psychology or counselling | GP referral or self-referral | Varies — Medicare rebate may be possible |
| Carer Gateway counselling and coaching | Call 1800 422 737 | Free |
| Peer support groups | Patient organisations or Belongside Families | Free |
Low-barrier family resource
These six positive psychology videos are designed for parents of children with severe epilepsy that persists over a long time.
The videos reflect different voices and different stages in the journey shared by families, including the joys and heartache experienced when caring for children with severe epilepsy.
Watch the Finding a Way videos
These organisations offer peer support, counselling, education, referrals, coaching or culturally appropriate carer support.
Family-led peer support, education and webinars.
Visit websiteFree counselling, coaching and respite. Call 1800 422 737.
Visit websiteInformation, education and referral services.
Visit websiteCulturally appropriate information and carer support.
Visit websiteAll support and resource links open in a new browser tab.
Section 6
Siblings play a central, yet often invisible, role in families of children with developmental and epileptic encephalopathies. Even small clinical actions can substantially improve siblings’ understanding, connection and wellbeing.
Many siblings wonder, “Will I get this condition?” or “What causes seizures?”, even when parents try to explain.
Siblings may experience anxiety, sadness, confusion and guilt. There is also evidence of elevated depression rates among adult siblings.
Siblings may supervise, assist with daily routines or manage safety during seizures, often with little guidance or recognition.
Ask about siblings directly, make information accessible and ensure that future planning does not create an unspoken expectation that siblings will become carers.
| Clinical action | What to do |
|---|---|
| Ask about siblings | “How are your other children coping?” “Brothers and sisters often have their own questions. I’m happy to talk with them too.” |
| Explain clearly | Offer age-appropriate explanations of what DEEs are, why seizures happen, and what the sibling’s role is and is not. Resources can include children’s books about epilepsy and disability. |
| Validate emotions | Explain that mixed feelings are common and ask siblings directly. They may appear to be coping on the outside while struggling privately. “It’s okay if your other children feel mixed emotions. Many siblings do.” |
| Connect siblings | There are very few DEE-specific sibling resources. Suggest sibling programs, peer-led online spaces and condition-agnostic workshops for siblings of children with disability, rare conditions or chronic illness. |
| Future planning | Involve older siblings in future-planning discussions without creating expectations of caregiving. Refer to social work for guardianship and long-term care planning. |
Broader sibling and young-carer organisations can provide practical information, peer connection, mentoring and guidance for families.
National organisation for sibling support, workshops, programs and parent guidance.
Visit websiteSupport for young carers, including siblings, through programs, mentoring and community.
Visit websiteInformation, school-support guidance and an online community for young carers.
Visit websiteSimple, direct language can help siblings understand that their feelings are valid, that the condition is not their fault and that they are not responsible for managing everything.
Normalising mixed feelings“It’s really okay to have lots of different feelings about your brother or sister’s condition.”
Addressing worry or fear“If the seizures or hospital visits feel scary sometimes, you’re not the only one. Lots of kids your age feel that way too.”
Acknowledging frustration“It can be really hard when plans change or when your family’s routine is different. It’s okay to feel annoyed or upset about that.”
Reducing guilt“Nothing about this is your fault. Your sibling’s condition isn’t caused by something you did or didn’t do.”
Recognising their role“You’re an important part of your family, but it’s not your job to fix or manage everything.”
Inviting conversation“If anything ever feels confusing or heavy, you can tell me or another trusted adult. We’re here to help you too.”
All sibling-support resource links open in a new browser tab.
Section 7
Transition planning is one of the most neglected and distressing areas for families affected by developmental and epileptic encephalopathies. The evidence base remains limited, but what families consistently report gives clear direction for what better care can look like.
These resources are not DEE-specific, but represent the strongest available transition guidance for young people with complex conditions.
The most widely used evidence-based transition framework for young people with special healthcare needs. Includes tools, checklists and a six-step process clinicians can adapt.
Visit resourceRoyal Children’s Hospital Melbourne guidance supporting young people with complex health needs moving to adult care. Includes clinician guidance and family resources.
Visit resourceThe NDIS has specific processes for young people turning 18. Documentation and plan reviews should begin well before this threshold to reduce the risk of funding gaps.
Visit resourceDownloadable resources on transition to adult care for families and clinicians managing rare epilepsies.
Visit resourceBegin planning early, strengthen the handover between services and involve the people who will be affected by future care arrangements.
| Problem families report | What clinicians can do |
|---|---|
| Starting too late |
Begin transition conversations by age
14 to 16, even if formal transfer is
years away. Frame this as planning for stability
rather than preparing for the loss of paediatric care.
“We’re not making any decisions today. I just want to make sure you have the information you need for whenever the time feels right. Starting early helps avoid long waitlists later.” |
| Poor handover |
Prepare a comprehensive written handover summary for
adult providers. This should include:
Where possible, facilitate a joint appointment or telehealth handover between paediatric and adult teams. Identify adult neurologists or physicians with experience in complex epilepsy or rare disease before transfer occurs. |
| Siblings excluded | With parent consent, invite older siblings to transition conversations. Siblings often anticipate future caregiving responsibilities but receive no information or preparation. Provide future-care resources and link the family with social work for guardianship and long-term planning discussions. |
| NDIS funding gaps |
Start NDIS plan reviews and documentation at least
12 months before the young person turns 18
.
The shift from Early Childhood or Local Area Coordinator pathways to adult planning can result in significant funding disruption if left too late. Connect families with a Support Coordinator or social worker with NDIS experience early. |
| Emotional barriers |
Many families avoid transition conversations because
of fear, grief or the life-limiting nature of some
DEEs. Clinicians may also avoid them for similar
reasons. Acknowledge this directly and allow the pace
to be set by the family.
“Talking about the future doesn’t mean we’re giving up on the present. It helps create stability for your family.” “Many families feel worried about these conversations at first. You’re not alone in that. We can move at whatever pace feels right.” |
| Practical service gaps |
Adult services for people with complex epilepsy and
intellectual disability are limited in Australia. Be
honest with families about this.
Proactive steps include:
|
These examples can help make transition conversations feel more gradual, collaborative and emotionally safe.
When families feel unprepared“I know we haven’t talked about this much yet. That’s something I want to change. Let’s start mapping out what the next few years might look like, so nothing comes as a surprise.”
When families are grieving“It makes complete sense that this feels hard. These conversations carry a lot of weight. We can take this at whatever pace works for you.”
When siblings are present“You might be thinking about what things will look like in the future too. Would it be okay if we talked about that together?”
All transition-resource links open in a new browser tab.
Section 8
The recommendations throughout this guide are grounded in peer-reviewed evidence and the systematic review that informed its development. The citations below support the evidence statements used earlier on the page.
The numbered references below correspond with the citations in the Diagnosis section.