Ongoing Care, Monitoring, and Quality of Life

While the initial focus of a Developmental and Epileptic Encephalopathy 85 (DEE85) diagnosis is often on seizure control, the long-term journey involves a broader view of your child’s health and happiness. Because this condition is caused by a variant in the SMC1A gene, it can affect multiple systems in the body, requiring a coordinated “multidisciplinary” team of specialists to provide holistic care ^[1][2].

Managing Non-Neurological Health

Children with DEE85 require careful monitoring of more than just brain activity. Research has identified several key areas that need ongoing attention:

• Cardiac Health: Approximately 20% of children in a large international study of DEE85 were found to have cardiovascular (heart) malformations ^[3]. A baseline evaluation by a pediatric cardiologist, which may include an echocardiogram (an ultrasound of the heart), may be discussed depending on the child’s presentation, examination, and local guidance ^[3].
• Respiratory Care: Difficulties with breathing (respiratory compromise) were reported in over half of infants in the neonatal period within the same study ^[3]. This neonatal finding does not automatically mean every child has a lifelong respiratory disorder. However, ongoing monitoring for apnea (pauses in breathing) or issues with swallowing that could lead to lung infections (aspiration) is a vital part of long-term care based on symptoms.
• Growth Monitoring: Doctors will track your child’s “serial growth,” with a particular focus on head circumference. In DEE85, head growth often slows down after birth (postnatal microcephaly), even if it was normal at birth ^[3].
• General Health: Routine care domains relevant in severe developmental epilepsy include sleep, reflux, constipation, vision, hearing, and bone health/orthopedics.

Building Your Therapy Team

Because DEE85 is associated with global developmental delay, early and consistent therapy is the cornerstone of supporting your child’s potential ^[4]. Your team will likely include:

1. Physical Therapy (PT): Focuses on gross motor skills, such as sitting, standing, or walking. PTs also help prevent “contractures” (stiffening of the muscles) and recommend equipment like braces or specialized seating ^[3][5].
2. Occupational Therapy (OT): Helps with fine motor skills, like grasping objects, and addresses “sensory needs”—how your child processes sights, sounds, and touch ^[5].
3. Speech-Language Pathology (SLP) & AAC: While speech may be limited, communication is still possible. Augmentative and Alternative Communication (AAC)—which can range from simple picture boards to high-tech eye-gaze devices—helps children express their needs and emotions ^[5][6].
4. Feeding and Nutrition: Specialized support may be needed to ensure your child can eat safely without choking and is getting enough calories for growth ^[5].

Quality of Life and Supportive Care

The goal of care in DEE85 is to maximize comfort and participation in family life. This is where palliative care (or supportive care) can be invaluable. This specialty is not just for the end of life; rather, it focuses on managing complex symptoms, reducing the burden of too many medical appointments, and supporting the mental health of the entire family ^[1][7].

Understanding the Long-Term Path

Parents often ask about the “prognosis” or what the future holds. In the largest study of DEE85 to date, most children experienced significant developmental challenges and drug-resistant seizures ^[3]. However, “prognosis” is not a fixed number or a guaranteed outcome.

• Survival: Long-term outcome and survival data are currently limited, and life expectancy is not reliably known. Discuss individualized risks, such as epilepsy-related safety and Sudden Unexpected Death in Epilepsy (SUDEP), directly with your neurologist.
• Variability: Your child’s specific variant, their response to seizure medications, and the presence of any other health issues (like heart defects) all play a role in their individual journey ^[8][9].

The focus of ongoing care is often on “meaningful milestones”—the small, vital gains in communication, movement, and comfort that improve your child’s daily life and your family’s experience together ^[5].