Building Your Care Team and Treatment Plan

Managing Christianson Syndrome (CS) requires a team of experts working together. Because this is a multisystemic disorder—affecting the brain, bones, and growth—no single doctor can manage it alone ^[1][2]. As a caregiver, you are the “captain” of this team, ensuring that each specialist has the full picture of your child’s health ^[3].

Building Your Multidisciplinary Team

A comprehensive care team for CS typically includes these key specialists:

• Pediatric Neurologist/Epileptologist: Focuses on managing intractable epilepsy, monitoring for ESES, and tracking cerebellar degeneration ^[4][5].
• Medical Geneticist: Provides ongoing information about the SLC9A6 mutation and discusses potential clinical trials or future gene therapies ^[4][6].
• Pediatric Orthopedist: Screens for atlantoaxial instability (AAI) and manages other bone or joint issues ^[7].
• Gastroenterologist (GI): Addresses common feeding issues and gastrointestinal dysfunction ^[1].
• Therapy Team: Includes Physical Therapy (PT) for mobility and balance, Occupational Therapy (OT) for sensory sensitivities (like touch aversion), and Speech-Language Pathology (SLP). Early engagement with an SLP is crucial to explore Augmentative and Alternative Communication (AAC) devices, since boys with CS are typically nonverbal ^[8][9].

Surveillance and Monitoring Roadmap

Standard care for CS involves regular “check-ins” to monitor the progressive nature of the syndrome ^[10].

Preparing for Specialist Visits

Because CS is rare, your child’s doctor may not have seen many cases. Bringing organized records helps them provide better care ^[2].

• Genetic Test Results: Bring the full lab report showing the specific SLC9A6 mutation ^[4].
• Seizure Log: Document the date, time, duration, and look of every seizure. Include a “failed medication list” showing what drugs were tried and why they were stopped ^[5].
• Video Library: Short videos of your child’s seizures, unusual movements, or walking (gait) can be more helpful than descriptions.
• Growth Charts: Keep a record of head circumference, height, and weight to help doctors spot postnatal microcephaly trends early ^[10].

Treatment Goals: Quality of Life

Current treatment focuses on managing symptoms rather than a cure.

• Epilepsy: Doctors may try various medications, though many children remain drug-resistant and require close, ongoing management from a specialist ^[5].
• Behavior and Sleep: Managing sleep disruptions is a priority, as poor sleep often worsens daytime behavior and seizure control ^[11].
• Sensory Sensitivities: Work with an Occupational Therapist on practical home strategies for touch aversion. This often includes using firm, deep pressure rather than light touch, or finding seamless, soft clothing to minimize distress ^[8].
• Safety: Because of pain hyposensitivity, the care plan must include daily “body checks” for injuries the child may not feel ^[8][12].