Below is a summary from the consensus about what families should expect
from their doctors treating their loved one with SCN8A, a glossary of terms and phrases,
and resources to help educate, support and connect families, communities, physicians, and researchers.
Home ➔ Diagnosis & Treatment of SCN8A ➔ SCN8A Important Information
Explore essential SCN8A resources including guidelines on what to expect from your SCN8A clinician. This video discusses crucial topics such as effective communication strategies with healthcare providers, the development of comprehensive care plans including seizure action, and adult transition planning. Keep reading to discover additional resources.
1. It's vital that a clinician be aware of the wide diversity of SCN8A and the 5 well-defined phenotypes.
2. Clinicians that treat patients with SCN8A should keep up to date with the latest research on SCN8A, like the global consensus for treatment.
3. Doctors should listen to your and value your input and priorities for care.
4. Clinicians need to provide proactive referrals for early intervention, specialists, and complex care as appropriate.
5. Engages in open discussion of SUDEP and measures to reduce risks
6. For the best care of those with SCN8, healthcare providers will collaborate with other treating specialists.
7. SCN8A doctors and families need to partner in development of a Seizure Action Plan.
8. As SCN8A children grow up into adults it becomes essential that clinicians provide transition documents and collaborate with adult neurologist along with other care providers.
Community Support. and Engagement Opportunities
Autism Spectrum Disorder: A neurological condition characterized by challenges in social interaction, communication, and repetitive behaviors.
Autonomic Dysfunction: When the autonomic nervous system, which controls bodily functions like heart rate and digestion, doesn’t work correctly.
Behavioral Dysregulation: Difficulty in managing emotional and behavioral responses to situations.
CBD: A chemical compound from the cannabis plant, used for medical purposes without causing a high.
Cognition: Mental processes involved in gaining knowledge and understanding, including thinking, remembering, and problem-solving.
Comorbidity: The presence of two or more medical conditions in a person at the same time.
Consensus: General agreement among a group of people or experts.
Contraindicated: Advised against; a situation where a particular treatment or procedure should not be used because it may be harmful.
Developmental Delay (DD): Slower than normal development in children in skills like walking or talking.
Emotional Dysregulation: Difficulty in controlling or managing emotional responses.
Epilepsy: A neurological disorder marked by recurrent, unprovoked seizures.
Feeding Issues: Problems with eating, which can include difficulty swallowing, eating too little, or refusing foods.
Fine Motor: The use and coordination of small muscles, typically in the hands and fingers, for tasks like writing, buttoning, or picking up small objects.
Gain of Function (GOF): A change in a gene that causes it to become more active or gain a new function.
Gastrointestinal Issues (GI): Problems related to the digestive system, including the stomach and intestines.
Generalized Epilepsy (GE): A type of epilepsy where seizures begin across both sides of the brain.
Gross Motor Skills: Abilities that involve the large muscles of the body, used for activities like walking and jumping.
Hypotonia: Reduced muscle tone, resulting in floppy or weak muscles.
Intellectual Delay (ID): Slower or less complete development of the mind, affecting abilities like learning, reasoning, and problem-solving.
Ketogenic (Keto) Diet: A diet high in fats and low in carbohydrates, often used to help control seizures in epilepsy.
Loss of Function (LOF): A change in a gene that causes it to become less active or lose its normal function.
Movement Disorders: Conditions that cause abnormal voluntary or involuntary movements or reduced movement.
Neuro-developmental Disorder (NDD): A disorder that affects the development of the brain and nervous system, leading to challenges in personal, social, academic, or occupational functioning.
Optimal Treatment: The best possible treatment, taking into account effectiveness, safety, and individual patient needs.
Orthopedic Issues: Problems related to the bones, joints, and muscles.
Phenotype: The observable physical and behavioral traits of a person, determined by both genetic makeup and environmental influences.
Polypharmacy: The use of multiple medications by a patient, often more than medically necessary.
Prognosis: The expected course and outcome of a disease, based on average outcomes.
Pulmonary Issues: Problems related to the lungs and respiratory system.
Resective Surgery: A type of surgery where part of the body, often part of the brain, is removed to treat a condition.
SCN8A: A gene that is important for the function of nerve cells in the brain and can be linked to certain medical conditions when it has a mutation.
Seizure Types: Different kinds of seizures, each with specific characteristics. They include:
Seizure Freedom: A state where a person experiences no seizures for a certain period, often due to successful treatment.
SeL(F)IE: Self Limited (Familial) Infantile Epilepsy – an epilepsy phenotype, which may or may not be inherited, that may be severe in infancy but largely resolves.
Sleep Disturbances: Problems related to sleeping, like trouble falling asleep, staying asleep, or abnormal behaviors during sleep.
Sodium Channel: A protein in nerve cells that helps control the flow of sodium ions, important for sending signals in the brain.
SUDEP Risk: The risk of Sudden Unexpected Death in Epilepsy, where a person with epilepsy dies suddenly and unexpectedly.
VNS: Vagus Nerve Stimulation, a treatment involving a device that sends electrical impulses to the brain via the vagus nerve to control seizures.
Join weekly Alliance SCN8A Family meetings – connect, learn from Dr. Hammer and other families, and support expanded understanding of how disease affects all our children.
Comorbidities | >50% Estimated Frequency | Severity Level | Change Over Time | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Neurological | Level of Consensus | Severe | Moderate | Mild | No Impairment | Level of Consensus | Worsen | Stable | Mixed | Improve | Resolve | Level of Consensus |
Fine Motor Delays | Strong | Moderate | Moderate | |||||||||
Gross Motor Delays | ||||||||||||
Movement Disorders | ||||||||||||
Hypotonia Moderate | ||||||||||||
Cortical Blindness/CVI | ||||||||||||
Autonomic Dysfunction | ||||||||||||
Sleep Disturbances | ||||||||||||
SUDEP Risk | ||||||||||||
DD/ID/Cognitive | ||||||||||||
Speech/Communication Delays | ||||||||||||
Intellectual Disability (ID) | ||||||||||||
Behavioral Dysregulation | ||||||||||||
Emotional Dysregulation | ||||||||||||
Autism Spectrum Disorder (ASD) | ||||||||||||
Organ Systems | ||||||||||||
Orthopedic Issues | ||||||||||||
Gastrointestinal (GI) | ||||||||||||
Feeding Moderate | ||||||||||||
Pulmonary |
Severe DEE | Significant Deterioration | Modest Deterioration | Limited Change | Moderate Improvement | Significant Improvement | Level of Consensus |
---|---|---|---|---|---|---|
Epilepsy | ||||||
Cognition | ||||||
Development |
– Keep Exploring –
Home ➔ Diagnosis & Treatment of SCN8A ➔ SCN8A Important Information
IMPORTANT: While this consensus data provides new and valuable insights about best practices in the diagnosis and treatment of SCN8A, this is not medical advice. It can inform clinicians and caregivers alike in developing optimal treatment plans for each individual.
Disclaimer for Consensus and Individual Variation
This consensus process was carried out by a panel of expert clinicians who actively treat patients with SCN8A-related disorders. Guidelines determined from a consensus differ from those determined from a population-based study*. The extent of consensus reached is restricted by the number of patients seen by each clinician and the portion of the disease spectrum these patients represent.
Consensus guidelines serve as a recommended starting point for clinicians to treat patients based on the best evidence available. If an affected individual does not fit the expected profile, it is important to reassess your treatment plan and revise accordingly. Reassessment of the consensus guidelines will occur as new data become available and the number of patients seen by clinicians increases.
Guidelines based on future consensus processes will therefore reflect advancements in clinical care.
*Population-based studies reveal general trends for large subsets of the population. It is important to remember that each individual is unique and may not necessarily follow these trends regarding developmental progression, seizure remission, or effective treatment.