Intellectual disability, microcephaly, epilepsy, and ataxia syndrome is the long, descriptive name for a very rare brain development condition that most doctors call Christianson syndrome. It mainly affects boys and is linked to a change (mutation) in a gene on the X chromosome called SLC9A6. This gene helps brain cells control the acid level inside tiny “bags” in the cell called endosomes. When the gene does not work well, brain cells do not grow and connect in the normal way. Children usually have severe learning problems (intellectual disability), a small head (microcephaly), repeated seizures (epilepsy), and problems with balance and walking (ataxia).
Intellectual disability, microcephaly, epilepsy, and ataxia syndrome is a very rare genetic brain condition. It is often linked to harmful changes (mutations) in a gene called SLC9A6, which makes a protein named NHE6. This protein helps control the acid level inside tiny “recycling bags” in brain cells called endosomes. When the gene does not work, these endosomes become too acidic, and brain cells cannot grow and connect in a normal way. This causes small head size (microcephaly), learning problems, seizures (epilepsy), poor balance, and movement problems (ataxia).
Babies with this syndrome usually look normal at birth. Over time, parents may notice slow development, trouble sitting or walking, little or no speech, and seizures. Many children also have swallowing and feeding problems, drooling, low muscle tone at first, then stiffness, and sometimes eye movement or vision problems. Doctors sometimes call this SLC9A6-related syndrome or a form of Christianson syndrome, because SLC9A6 mutations are a key cause.
Other names
Doctors and researchers use many different names for this same condition. These names all point to the same basic syndrome or to very closely related descriptions.
Some other names include:
Christianson syndrome – the short and most common name.
Intellectual developmental disorder, X-linked, syndromic, Christianson type – stresses that it is an X-linked genetic condition causing a group of symptoms.
Intellectual disability, microcephaly, epilepsy, and ataxia syndrome – a descriptive name listing the main features.
SLC9A6-related syndromic intellectual disability – shows that the SLC9A6 gene is involved.
X-linked Angelman-like syndrome or Angelman-like syndrome, X-linked – because the behavior and movement problems can look similar to Angelman syndrome.
MRXSCH or MRXS Christianson – research codes meaning “X-linked mental retardation, Christianson type” in older language.
All these names describe the same core disorder, even if the wording and emphasis are slightly different.
Types and patterns of the syndrome
There is no strict official list of “types” like Type 1, Type 2, etc., for this syndrome. Instead, experts describe different patterns in how the condition appears in different people.
Common patterns include:
Typical Christianson syndrome in males. Boys with a clear harmful change in SLC9A6 often have severe intellectual disability, very little or no speech, small head, seizures, ataxia, and hyperactive movements.
Carrier females with mild or no symptoms. Many mothers or sisters who carry the SLC9A6 change are healthy or have only mild learning or speech problems, because they have another normal X chromosome.
Milder SLC9A6-related epilepsy or neurodevelopmental disorder. New studies show that some SLC9A6 variants can cause milder problems, such as partial epilepsy with less severe learning issues, so there seems to be a spectrum from mild to classic Christianson syndrome.
Even though doctors talk about these patterns, they are all part of one broad SLC9A6-related syndrome, not fully separate diseases.
Causes and risk factors
The main cause is a change (mutation) in the SLC9A6 gene on the X chromosome. This gene makes a protein called NHE6, which helps control acid levels inside brain cell endosomes. When it does not work, brain development is disturbed, leading to the syndrome.
Pathogenic SLC9A6 mutation
A harmful mutation in SLC9A6 is the direct cause in almost all known cases. This stops the gene from making a fully working NHE6 protein in brain cells, and this is the root reason for the syndrome.X-linked inheritance from a carrier mother
Because the gene is on the X chromosome, a mother who carries a damaged copy can pass it to her son. Sons usually show the full condition because they have only one X chromosome.De novo (new) mutation in SLC9A6
Sometimes the mutation is not inherited but appears for the first time in the child. This is called a de novo mutation and can still cause the full syndrome.Loss-of-function variants (nonsense or frameshift)
Many boys have “loss-of-function” mutations that cut the protein short or shift the reading frame, so almost no normal NHE6 is made. This strongly disrupts brain cell function.Splice-site mutations in SLC9A6
Some mutations affect how the gene’s code is cut and joined (splicing). This can remove or change important parts of the protein and again lead to the syndrome.Missense mutations changing key amino acids
Other patients have missense mutations, where one building block of the protein is swapped for another. If this happens at a critical spot, NHE6 cannot work properly and symptoms appear.Abnormal endosome pH (too acidic inside the cell)
NHE6 helps pump protons out of endosomes. When it fails, endosomes become too acidic. This can harm how brain cells process signals and traffic proteins, adding to intellectual disability and seizures.Impaired neuronal circuit development
Studies show that loss of NHE6 changes how brain circuits form, including pathways that rely on growth factor signaling (such as TrkB). This can cause long-lasting problems in learning and movement.Cerebellar atrophy (shrinkage) due to gene defect
Imaging often shows the cerebellum (part of the brain for balance) is small or shrinks over time. This is a consequence of the gene problem and helps explain the ataxia.Cerebral atrophy and brain volume loss
Some patients also have more general brain shrinkage. This loss of brain tissue is another structural effect of the gene mutation and contributes to severe disability.Disrupted synaptic function
Endosomal problems can disturb how synapses (connections between brain cells) recycle receptors and transporters, which makes brain signaling less efficient and may promote epilepsy.X-linked dominant pattern in families
The condition usually behaves like an X-linked dominant disorder, where one damaged copy in males is enough to cause severe disease, and some carrier females can also be affected.Skewed X-inactivation in carrier females
In females, one X chromosome is randomly turned off in each cell. If more cells turn off the healthy X (skewed inactivation), carrier girls or women may show learning or speech problems.Modifier genes and genetic background
Other genes in the person’s DNA may make symptoms milder or more severe, which is why not all people with the same SLC9A6 mutation look exactly the same.Environmental stress on a vulnerable brain
Illnesses with high fever, poor nutrition, or lack of early therapy do not cause the syndrome but can worsen seizures and development in a brain already made fragile by SLC9A6 mutation.Epileptic activity damaging brain networks
Recurrent, uncontrolled seizures can themselves harm brain networks over time, adding extra difficulty with learning and movement.Cerebellar dysfunction from early life
Because the cerebellum is affected very early, children may never build normal balance and coordination skills, leading to lifelong ataxia and motor delay.Neurodevelopmental vulnerability in infancy
Symptoms usually begin in infancy, a time when the brain grows very fast. A gene defect at this stage has a stronger impact than if it appeared later.Possible overlap with Angelman-like pathways
Some clinical features overlap with Angelman syndrome, and research suggests shared or interacting pathways in brain signaling and plasticity, which may shape the final clinical picture.Rare autosomal conditions in the differential (not true cause)
Other rare disorders, such as “neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS),” can look similar but are caused by different genes (for example SARS1). These are not causes of Christianson syndrome but important to rule out when searching for the exact diagnosis.
Symptoms and clinical features
Children do not all look the same, but many share a core group of symptoms.
Intellectual disability
Most children have moderate to profound intellectual disability. This means they learn and understand much more slowly than other children, and they need help for most daily activities throughout life.Very limited or absent speech
Many boys with this syndrome never develop spoken words, or they may say only a few simple words. They often communicate mainly through sounds, gestures, and facial expressions.Microcephaly (small head size)
The head is smaller than expected for age and sex. Sometimes the head is normal at birth and becomes relatively smaller over time (postnatal microcephaly) as the brain does not grow normally.Epilepsy (recurrent seizures)
Seizures often start in the first years of life. They can be many types, including generalized and mixed seizure patterns, and in some boys they are hard to control.Ataxia (poor balance and coordination)
Children usually have trouble sitting, standing, and walking. Movements can be shaky or unsteady, and many children need support to move around safely.Developmental delay in motor skills
Milestones such as rolling, sitting, crawling, and walking are reached much later than in other children, if at all. Some children learn to walk but lose this ability later.Hypotonia (low muscle tone)
Babies may feel “floppy” when held. Low muscle tone can make feeding, head control, and later motor skills more difficult.Hyperkinesis or restless movements
Many children show constant, quick movements, fidgeting, or hyperactive behavior, which can make care and therapy more challenging.Happy or smiling demeanor
A frequent feature is a very cheerful facial expression with frequent smiling and episodes of unprovoked laughter, which is why the condition is sometimes called “Angelman-like.”Feeding difficulties and poor weight gain
Some infants have trouble sucking or swallowing. Reflux, vomiting, or low appetite may appear, and some children need special feeding support to grow.Gait problems and frequent falls
When children can walk, their gait is often wide-based and unstable. They may fall often because of ataxia and poor coordination.Eye problems and abnormal eye movements
Some patients have strabismus (crossed eyes), poor visual tracking, or other eye movement problems, which may affect vision and balance.Sleep disturbances
Difficulty falling asleep, frequent night waking, and irregular sleep patterns are common and can affect both the child and the family.Behavioral challenges
Irritability, aggression, self-stimulation, and sensory problems (for example, being very sensitive to noise) may occur and need behavioral and environmental support.Possible additional health issues
Some patients may have scoliosis, gastrointestinal problems, or other organ issues, though these are less constant than the brain and movement problems.
Diagnostic tests
Doctors use a mix of clinical examination, developmental tests, laboratory and genetic tests, electrodiagnostic tests, and imaging to confirm this syndrome and to rule out other conditions.
Physical examination tests
1. General physical and neurological examination
The doctor looks at the child’s overall health, muscle tone, reflexes, movement, and responses. This first full check can show signs of intellectual disability, ataxia, and other neurological features that suggest a syndromic condition.
2. Growth and head circumference measurement
The child’s weight, height, and head size are measured and plotted on growth charts. A head size below the normal range for age (microcephaly) supports the diagnosis.
3. Gait and balance assessment
If the child can stand or walk, the doctor watches how they move. A wide-based, unsteady gait and poor balance are typical features of ataxia in this syndrome.
4. Dysmorphology examination (face and body)
A specialist may carefully examine facial features (such as long narrow face, prominent jaw, open mouth) and body shape. A pattern of features together with neurological signs can point toward Christianson syndrome.
Manual developmental and functional tests
5. Developmental milestone assessment
Standard developmental scales are used to test skills such as sitting, walking, social interaction, and problem solving. These tools show the degree of global developmental delay.
6. Cognitive and adaptive behavior testing
When possible, psychologists use tests of understanding and daily living skills (adaptive behavior scales). These help measure the level of intellectual disability and guide support needs.
7. Speech and language evaluation
Speech therapists assess understanding, sound production, and alternative ways of communication. In this syndrome, they usually find very limited or absent speech and recommend communication aids.
8. Physiotherapy and fine-motor assessment
Physiotherapists and occupational therapists test posture, muscle strength, hand use, and coordination. These assessments document ataxia, hypotonia, and fine-motor difficulties and help plan therapy.
Laboratory and pathological tests
9. Basic blood tests (screening)
Blood tests such as complete blood count, electrolytes, and liver and kidney function are done to rule out other causes of seizures or developmental delay and to prepare for medications. They do not diagnose the syndrome but are part of safe care.
10. Metabolic screening tests
Tests such as blood amino acids, lactate, ammonia, and urine organic acids may be done to rule out metabolic diseases that can also cause seizures and microcephaly. A normal result supports a genetic, non-metabolic cause like SLC9A6 mutation.
11. Thyroid and other hormone tests
Thyroid hormone tests and sometimes other hormone checks are performed, because hormone problems can also affect growth and development. Normal hormone tests help narrow the diagnosis toward a primary neurogenetic disorder.
12. Chromosomal microarray analysis (CMA)
CMA looks for missing or extra pieces of chromosomes. It is often one of the first genetic tests for children with global developmental delay. A normal CMA pushes doctors to look at single genes like SLC9A6.
13. SLC9A6 gene sequencing
This is the key test. DNA from the child is checked base by base for changes in the SLC9A6 gene. Finding a clearly harmful variant confirms the diagnosis of Christianson syndrome.
14. Broader gene panel or exome sequencing
Sometimes doctors use a panel of many intellectual disability or epilepsy genes, or even whole-exome sequencing, to find the mutation. This is useful when the clinical picture is not classic or when several rare disorders are being considered.
15. Carrier testing for family members
Once a mutation is identified, mothers, sisters, and other relatives can be tested to see if they carry the same change. This helps with family planning and understanding who might have mild symptoms.
Electrodiagnostic tests
16. Electroencephalogram (EEG)
EEG records the brain’s electrical activity using electrodes on the scalp. In this syndrome, EEG often shows abnormal patterns that match epilepsy. The test helps confirm seizures and guide treatment choices.
17. Video-EEG monitoring
In some children, long-term EEG with video is used to capture actual seizure events. This helps doctors link specific movements or behaviors with seizure activity and adjust medicines.
18. EMG and nerve conduction studies (in selected cases)
If there is concern about muscle weakness or peripheral nerve problems, doctors may test how well nerves and muscles transmit electrical signals. This is not routine for every child but can help rule out other neuromuscular diseases.
Imaging tests
19. Brain MRI
MRI uses magnets and radio waves, not X-rays, to take detailed pictures of the brain. In this syndrome, MRI often shows cerebellar atrophy and sometimes general brain atrophy, which supports the clinical diagnosis.
20. Brain CT scan
CT uses X-rays to create brain images. It is less detailed than MRI but may be used in emergencies or when MRI is not available. It can show major structural brain changes and help rule out other causes of seizures.
21. Cranial ultrasound in infants (supportive test)
In very young babies with an open “soft spot” (fontanelle), ultrasound can give a rough view of brain size and structure. It may suggest microcephaly or brain atrophy early, leading to faster referral for MRI and genetic testing.
Non-Pharmacological Treatments (Therapies and Others )
Early intervention programs
Early intervention means starting therapy in the first months or years of life, as soon as a developmental problem is noticed. Teams often include physiotherapists, occupational therapists, speech therapists, and psychologists. They use play-based exercises to improve movement, talking, and thinking. Starting early helps the brain build better alternative pathways and may reduce later disability severity, especially in children with early brain injury or genetic syndromes.Special education and individualized education plan (IEP)
Children with intellectual disability need teaching that matches their learning speed and style. In special education, teachers break tasks into very small steps, repeat often, and use pictures and hands-on activities. An individualized education plan (IEP) sets clear goals for reading, writing, math, communication, self-care, and behavior. Regular reviews help adjust the plan as the child grows.Behavioral therapy
Behavioral therapy teaches new skills and reduces difficult behaviors (like self-injury or aggression) using rewards, clear rules, and consistent routines. Therapists work with parents to understand what triggers behaviors and what the child is trying to communicate. Step by step, the child learns safer and more helpful ways to express needs and feelings.Speech and language therapy
Many children with microcephaly and intellectual disability have delayed speech and trouble understanding language. Speech-language therapists use pictures, games, and simple words to build understanding and expression. They may also train alternative and augmentative communication (AAC) tools, such as picture boards or communication apps, so the child can ask for things and join family conversations even if spoken words are limited.Occupational therapy (OT) for daily living skills
OT focuses on everyday tasks such as dressing, feeding, writing, using the toilet, and play. The therapist adapts tools (special spoons, pencil grips, seating) and breaks tasks into tiny steps. For ataxia, they may suggest weighted cups or utensils and stable chairs to reduce spilling and falls, helping the child become more independent and confident.Physiotherapy for strength and gait
Physiotherapy uses exercises, stretching, and task-specific practice (like repeated stepping and standing) to improve strength, balance, and walking. In ataxia, carefully designed coordination and gait training programs have been shown to improve walking quality and reduce falls when done regularly over weeks to months.Balance and coordination exercises
Specific balance tasks (standing on different surfaces, stepping in different directions, using balance boards with support) are used to train the cerebellum and sensory systems. For ataxia, daily practice of structured balance exercises can improve stability and confidence, even though the brain damage itself may not be reversible.Seizure first-aid and safety education
Families, teachers, and caregivers need training on what to do during a seizure: stay calm, protect the head, roll the person to the side, and time the seizure. They also learn when to call emergency services and how to use rescue medicines if prescribed. Education reduces fear, prevents injuries, and helps seizures be managed more safely at home and school.Ketogenic or modified diet programs (under supervision)
For some people with hard-to-control epilepsy, high-fat ketogenic diets or modified Atkins diets can reduce seizure frequency. These diets must be started and monitored by a specialist team and dietitian, because they carry risks like nutritional deficits and kidney stones. They are especially considered when standard medicines do not work well.Assistive communication devices (AAC)
Tablets with communication apps, eye-gaze devices, and simple picture boards can give a “voice” to children who cannot talk clearly. The system is customized to the child’s daily life words (family members, favorite foods, basic needs). Regular practice in therapy and at home builds independence and reduces frustration and behavior problems linked to not being understood.Environmental modifications and fall-prevention
Because of ataxia and seizures, the home and school environment should be made safer. This may include non-slip flooring, grab bars, railings, gate barriers, corner protectors, and avoiding bunk beds. Simple changes can greatly lower the risk of head injuries and fractures during falls or unexpected seizures.Structured routines and visual schedules
Children with intellectual disability often feel calmer when days are predictable. Visual schedules (pictures showing “wake up – breakfast – school – therapy – play – sleep”) help them understand what comes next and reduce anxiety and meltdowns, especially during transitions like getting dressed or going to bed.Psychological counseling for child or adolescent
Older children and teenagers may feel different, sad, or frustrated about their limitations. Psychologists provide simple, supportive therapy to explore feelings and build coping skills. They may use play, drawings, or stories and may also screen for anxiety or depression, which can be more common in epilepsy and chronic disability.Family and caregiver support groups
Parents caring for a child with complex disabilities often feel alone and exhausted. Support groups and parent training programs connect families, share practical tips, and teach stress-management strategies. This emotional support can reduce burnout and improve the child’s overall care.Respite care services
Respite services provide short-term care for the child so parents can rest, attend appointments, or spend time with other children. This may be in the home, a day center, or a short stay in a specialized facility. Regular respite can help families cope over the long term and reduce the risk of family breakdown.Vocational training for older children and adults
As the child grows, training in simple work skills (like sorting, packaging, gardening, or computer tasks) can prepare them for supported employment or day programs. Focus is on matching tasks to abilities, improving social skills, and helping the person contribute meaningfully to their community.Rehabilitation technologies (exergames, robotics)
Newer rehab programs sometimes use video-game-style exercises, treadmills with body-weight support, or robotic devices to train walking and arm movements. These technologies can make intensive practice more fun and help motivate children with ataxia to keep exercising regularly.Sleep hygiene programs
Poor sleep can worsen seizures, behavior, and learning. Simple strategies include fixed bedtimes, calming routines, limiting screens before bed, and ensuring a dark, quiet bedroom. Sometimes sleep studies are needed to look for sleep apnea or night-time seizures. Improving sleep often helps daytime attention and mood.Nutritional counseling
Dietitians assess growth, feeding problems, and swallowing safety. They suggest textures that are easier to chew and swallow, and balanced meals that provide enough calories, protein, vitamins, and minerals. For children on ketogenic or other special diets, dietitians monitor lab tests and adjust the plan to reduce side effects.Multidisciplinary care coordination
Because the child may see many specialists (neurology, genetics, rehab, psychology, education), a care coordinator or case manager can help organize appointments, share information, and support the family with services and benefits. This reduces confusion and helps everyone work toward the same goals.
Drug Treatments
Very important: These medicines must only be started, changed, or stopped by a doctor. Doses below are typical examples from clinical and FDA-label information, but your own dose may be different. Never adjust medicines on your own.
Levetiracetam
Levetiracetam is a broad-spectrum antiseizure medicine often used first because it works for many seizure types and has fewer drug interactions. It binds to the synaptic vesicle protein SV2A, which seems to stabilize neurotransmitter release and reduce abnormal brain firing. Doctors usually start with a low dose twice daily and slowly increase. Common side effects include tiredness, irritability, and mood changes, so behavior must be watched closely.Valproic acid / sodium valproate
Valproate is another broad-spectrum drug useful for generalized seizures, absence seizures, and mixed seizure patterns. It increases the calming brain chemical GABA and may block certain sodium and calcium channels. It is given in divided doses with food. Side effects can include weight gain, tremor, hair thinning, and rarely liver or pancreas problems, so blood tests are needed. It must be used very carefully in females of child-bearing age due to serious pregnancy risks.Lamotrigine
Lamotrigine stabilizes nerve cell membranes by blocking voltage-gated sodium channels and reducing release of glutamate. It can help focal and generalized seizures and may have mood-stabilizing benefits. The dose must be increased very slowly to lower the risk of skin rashes, including rare but serious reactions like Stevens–Johnson syndrome. It is taken once or twice a day as tablets or dispersible tablets.Carbamazepine
Carbamazepine is most effective for focal seizures and focal seizures that spread. It blocks sodium channels to reduce rapid repetitive firing in brain cells. It is usually given two or three times daily, starting low and increasing slowly. Side effects can include dizziness, double vision, low sodium levels, and rare blood or liver problems, so regular blood tests and monitoring are important.Oxcarbazepine
Oxcarbazepine is related to carbamazepine but tends to have fewer drug interactions. It also acts mainly by blocking sodium channels. It is used for focal seizures in children and adults and is given twice daily. Common side effects are sleepiness, dizziness, and low sodium levels. Doctors watch blood sodium and adjust doses carefully, especially in children with other medications.Topiramate
Topiramate has several actions: it blocks sodium channels, enhances GABA activity, and weakly blocks some glutamate receptors. It is used for focal and generalized seizures and sometimes for migraine prevention. It is usually given twice daily. Side effects may include weight loss, tingling in hands and feet, slowed thinking, and kidney stones, so good hydration and regular checks are needed.Zonisamide
Zonisamide blocks sodium and T-type calcium channels and has mild carbonic anhydrase inhibition. It can help focal and some generalized seizures as an add-on medicine. It is usually given once or twice daily. Side effects can include sleepiness, loss of appetite, kidney stones, and rarely overheating in young children, so fluid intake and temperature must be watched.Lacosamide
Lacosamide works by slowly inactivating sodium channels, which helps stabilize over-excited neurons. It is used mainly for focal seizures and can be given as tablets or intravenous infusions. Side effects may include dizziness, headache, and changes in heart rhythm in vulnerable patients, so doctors may check an ECG when needed.Gabapentin
Gabapentin is used as add-on therapy for focal seizures and for nerve pain. It binds to the alpha-2-delta subunit of calcium channels, reducing excitatory neurotransmitter release. It is usually given three times daily and is cleared by the kidneys, so dose adjustments are needed in kidney disease. Common side effects include sleepiness, dizziness, and weight gain.Pregabalin
Pregabalin is similar to gabapentin and also targets the alpha-2-delta subunit of calcium channels. It is used for focal seizures and nerve pain. It is taken twice daily and has predictable absorption. Side effects include dizziness, blurred vision, and weight gain. Doctors adjust dose based on kidney function and seizure control.Clobazam
Clobazam is a benzodiazepine used as an add-on for many seizure types, especially in epileptic encephalopathies. It enhances GABA’s calming effect at GABA-A receptors. It is usually given once or twice a day. Side effects include drowsiness, drooling, and dependence with long-term use, so doctors may try to keep the dose as low as effective.Clonazepam
Clonazepam is another benzodiazepine used for certain seizure types, including myoclonic seizures. It also enhances GABA-A receptor activity. It can be effective but often causes sedation and drooling and may lose effect over time (tolerance), so it is usually used as a secondary option or for rescue.Phenytoin
Phenytoin blocks voltage-gated sodium channels and is used mainly in emergency situations for status epilepticus and sometimes chronic focal seizures. It can be given by mouth or intravenously. Side effects include gum overgrowth, balance problems, skin rashes, and long-term cosmetic changes, so long-term use is now less common. Abrupt stopping can trigger severe seizures.Phenobarbital
Phenobarbital is a barbiturate that strongly enhances GABA activity and depresses brain excitability. It is one of the oldest antiseizure drugs and still used in some low-resource settings or very severe epilepsy. It can be very sedating and may affect learning and behavior, so many doctors prefer newer drugs when possible.Ethosuximide
Ethosuximide blocks T-type calcium channels and is mainly used for absence seizures. If a child with this syndrome has typical absence seizures, ethosuximide may be chosen. Side effects include stomach upset, weight loss, and rare blood problems, so monitoring is needed. It is usually taken once or twice daily.Rufinamide
Rufinamide is often used for Lennox-Gastaut syndrome and other severe childhood epilepsies with multiple seizure types. It modulates sodium channels and reduces seizure spread. It is taken with food, usually twice daily. Side effects can include nausea, headache, and tiredness. Doctors titrate the dose carefully according to weight and response.Vigabatrin
Vigabatrin irreversibly inhibits GABA-transaminase, increasing GABA levels in the brain. It is especially useful for infantile spasms linked to tuberous sclerosis. Its major risk is permanent visual field loss, so eye monitoring is essential. Because of this, doctors weigh benefits and risks very carefully before using it.Perampanel
Perampanel is an AMPA-receptor antagonist used as add-on therapy for focal seizures and generalized tonic-clonic seizures. It reduces excitatory glutamate signaling. It is taken once daily at night. Possible side effects include dizziness, sleepiness, and rare behavior changes like irritability or aggression, so families should report mood changes quickly.Brivaracetam
Brivaracetam is similar to levetiracetam, also binding to SV2A with high affinity. It is used for focal seizures and can be given orally or intravenously. It may cause fewer mood side effects in some patients, but monitoring is still needed. Doctors adjust doses based on seizure control and side effects.Rescue medicines (buccal midazolam, rectal diazepam)
For very long or cluster seizures, doctors may prescribe rescue benzodiazepines to be given in the cheek (buccal) or rectally at home. These do not prevent daily seizures but can stop a prolonged seizure and reduce the risk of status epilepticus while waiting for emergency care. Families must receive careful training on when and how to use them.
Dietary Molecular Supplements
Supplements should only be used under medical supervision, especially in children, to avoid overdosing or interactions.
Folic acid – Supports DNA and brain development; deficiency is linked to neural tube defects and neurodevelopmental problems. Doctors may recommend age-appropriate doses in children with poor diet or certain medications that lower folate.
Vitamin D – Important for bone health and brain development. Low prenatal and early-life vitamin D has been linked to higher risk of some neurodevelopmental disorders, so doctors may recommend supplements if blood levels are low.
Omega-3 fatty acids (EPA/DHA) – Found in fish oil, they help build brain cell membranes and may modestly improve behavior, attention, or mood in some neurodevelopmental conditions, though results are mixed.
Iron – Needed for oxygen transport and brain development. Iron deficiency can worsen fatigue and learning difficulties. Supplementation is only given after blood tests confirm deficiency, because too much iron can be harmful.
Iodine – Essential for thyroid hormone, which is critical for brain development. In areas with low iodine intake, supplements or iodized salt are used to prevent intellectual disability due to hypothyroidism. Doses must follow national guidelines.
Vitamin B12 – Supports myelin (nerve insulation) and energy pathways. Low B12 can cause developmental delay, weakness, and anemia. Doctors may suggest B12 supplements or injections if levels are low, but high doses without need are avoided.
Choline – A building block for cell membranes and acetylcholine (a key brain transmitter). Some research suggests choline may support memory and attention, but routine use is not yet standard; doctors may consider it case by case.
Magnesium – Involved in nerve signaling and muscle function. In some children with sleep problems or muscle cramps, magnesium may be helpful, but evidence for seizure control is limited. Dose must be adjusted for age and kidney function.
Multivitamin preparations – In children with feeding difficulties or restricted diets (for example on ketogenic diet), a complete multivitamin can prevent multiple micronutrient deficiencies. The product and dose should be age-appropriate and supervised by a dietitian or doctor.
Probiotics – These are “good bacteria” that support gut health. They may improve constipation or diarrhea in some children on special diets or many medicines, although evidence for direct effects on seizures or cognition is still limited.
Immunity-Boosting, Regenerative and Stem-Cell-Related Drugs
These options are not standard for most children with this syndrome. They are used only in specific conditions or research settings under specialist teams.
Intravenous immunoglobulin (IVIG)
IVIG is a pooled antibody product given by infusion. It can calm an overactive immune system in autoimmune brain conditions like autoimmune encephalitis or some intractable epilepsies, reducing brain inflammation and seizure frequency. It is dosed by weight in the hospital and can cause headache, fever, or rare serious reactions, so close monitoring is needed.High-dose corticosteroids (e.g., methylprednisolone)
Steroids strongly reduce inflammation and immune activity. In autoimmune brain diseases or epileptic encephalopathies, pulses of intravenous steroids may rapidly improve seizures and neurologic symptoms. Long-term use can cause weight gain, high blood pressure, mood changes, and bone thinning, so doctors aim for short courses and slow tapers.ACTH (adrenocorticotropic hormone) for infantile spasms
ACTH is an injectable hormone used mainly in infants with epileptic spasms. It stimulates the adrenal glands to produce steroids and can dramatically reduce spasms in some babies. Treatment is time-limited and requires monitoring for high blood pressure, infection risk, and electrolyte changes.Hematopoietic or umbilical cord blood stem-cell therapies (experimental)
In selected neurodevelopmental disorders such as cerebral palsy, clinical trials have tested bone-marrow or cord-blood stem cells to support brain repair. Results show small but measurable motor improvements in some children, but treatment remains experimental and is done only in approved research centers.Mesenchymal stem-cell therapies (experimental)
Mesenchymal stem cells from bone marrow or cord tissue may release anti-inflammatory and growth factors that support brain and nerve repair. Trials are ongoing and long-term safety and best dosing are still being studied, so this is not a routine therapy and should never be sought through unregulated clinics.Targeted biologic agents in autoimmune epilepsy (e.g., rituximab)
In severe autoimmune epilepsies that do not respond to usual treatments, biologic drugs like rituximab (which targets B-cells) may be used in hospital settings. They aim to reduce harmful auto-antibodies and control seizures. These medicines have important risks and are reserved for carefully selected cases after full specialist evaluation.
Surgeries and Procedures
Vagus nerve stimulation (VNS)
VNS involves implanting a small device under the chest skin with a wire wrapped around the vagus nerve in the neck. The device sends regular gentle electrical pulses to brain circuits to reduce seizure frequency and severity. It does not cure epilepsy but can lower seizures over months to years and may improve alertness in some patients.Epilepsy resective surgery
If seizures come from one damaged area of the brain and medicines fail, surgeons may remove or disconnect that focus. Careful tests (EEG, MRI, sometimes intracranial electrodes) are done to check safety for movement and language. In good candidates, surgery can greatly reduce or even stop seizures, improving development and quality of life.Corpus callosotomy
In children with very frequent drop attacks (sudden falls) that cause injuries, surgeons sometimes cut part of the corpus callosum, the bridge connecting the two brain halves. This can reduce spread of seizures and lower fall frequency, though other seizure types may remain. It is considered when other treatments fail and injury risk is high.Orthopedic surgeries for deformities
Chronic ataxia, muscle imbalance, and poor tone can lead to scoliosis, hip dislocation, or severe contractures. Orthopedic surgeons may perform tendon lengthening, hip reconstruction, or spinal fusion to reduce pain, improve sitting balance, and ease care, even if walking does not fully normalize.Feeding tube placement (gastrostomy)
If swallowing is unsafe or the child cannot eat enough because of severe disability or seizures, a feeding tube into the stomach (PEG or gastrostomy) can provide reliable nutrition and medication delivery. This can improve growth, reduce aspiration pneumonia, and make daily care easier for families.
Prevention Strategies
Many causes of this syndrome cannot be fully prevented, especially when due to genetic changes, but risks can sometimes be reduced.
Good prenatal care, including regular checkups and managing maternal illnesses.
Folic acid and recommended prenatal vitamins before and during early pregnancy.
Avoiding alcohol, smoking, and recreational drugs in pregnancy.
Vaccination against infections that can harm the fetus (e.g., rubella, as advised locally).
Safe childbirth practices to reduce severe birth asphyxia or trauma.
Early treatment of newborn jaundice, infections, and low blood sugar.
Preventing head injury with car seats, helmets, and safe home environments.
Early hearing and vision screening and prompt treatment.
Adhering strictly to prescribed seizure medicines to prevent repeated uncontrolled seizures.
Genetic counseling for families with known genetic causes to discuss recurrence risks and options.
When to See Doctors
Parents and caregivers should see a doctor or emergency service immediately if seizures last more than 5 minutes, occur back-to-back without recovery, cause breathing problems or severe injury, or are very different from usual seizures. Any sudden loss of skills (like walking or talking) or new severe headache, vomiting, or behavior change also needs urgent review. Routine follow-up with neurology, rehabilitation, and primary care is important at least every few months in childhood to adjust medicines, therapies, and educational supports as needs change.
What to Eat and What to Avoid
Eat: Balanced meals with fruits, vegetables, whole grains, and adequate protein to support growth and brain health.
Eat: Calcium- and vitamin-D-rich foods (dairy, fortified products, safe sun exposure) to protect bones, especially with antiseizure medicines that affect bone density.
Eat: Iron-rich foods (meat, beans, lentils, fortified cereals) if the child is at risk of anemia, following doctor or dietitian advice.
Eat: Foods with omega-3s like oily fish (where culturally acceptable) or doctor-approved supplements to support brain health.
Avoid: Skipping meals, extreme diets, or unsupervised fasting, because low blood sugar and dehydration can trigger seizures.
Avoid: Energy drinks and large amounts of caffeine in adolescents, which may worsen sleep and seizure control.
Avoid: Alcohol and recreational drugs in older adolescents and adults, as they strongly increase seizure risk and interact with medications.
Avoid: Overuse of over-the-counter supplements or herbal products without medical advice, because high doses can damage organs or interact with medicines.
Special diets: Follow ketogenic or other medical diets only under specialist supervision, with regular blood tests and growth monitoring.
Hydration: Encourage regular fluids, especially if on drugs that raise kidney stone risk (like topiramate, zonisamide) or during hot weather.
Frequently Asked Questions
Can this syndrome be cured?
No single treatment can cure the underlying brain changes. However, seizures can often be reduced, movement and communication can improve, and life skills can grow with long-term therapy, good seizure control, and strong family and school support.Will every child walk and talk?
This depends on how severe the brain damage is and what other medical problems are present. Some children learn to walk with or without aids and use words or AAC devices. Others remain dependent for mobility and communication. Early, intensive therapy gives the best chance to reach each child’s own highest level.Do seizures always mean epilepsy?
A single seizure during fever or acute illness does not always mean epilepsy. Epilepsy is usually diagnosed when there are two or more unprovoked seizures, or one seizure with very high risk of more. In this syndrome, epilepsy is common and needs careful long-term management.Can antiseizure medicines make learning worse?
Some medicines can cause tiredness, slower thinking, or behavior changes. Doctors try to choose drugs with the best balance of seizure control and side effects, especially in children with intellectual disability. Families should report any new problems so doses or medicines can be adjusted.Is ataxia always permanent?
Ataxia often comes from cerebellar damage, which usually does not fully heal. However, strength, coordination, and function can still improve with physiotherapy, balance exercises, and assistive devices. Some medication-related ataxia may improve when doses are changed.Can diet alone control seizures?
For a small group of children, ketogenic or related diets can greatly reduce seizures, but they are not a simple home remedy. They require strict monitoring and are usually used when several medicines have failed. Diet is one piece of treatment, not a replacement for medical care.Are stem-cell therapies a standard treatment now?
No. Stem-cell therapies for neurodevelopmental disorders are still experimental. Some trials show small improvements, but many questions remain about long-term safety and who benefits. Families should only consider such options in regulated clinical trials, never in unproven private clinics.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: January 15, 2026.
