Christianson syndrome is a rare genetic condition that mainly affects the brain and nervous system. It usually shows up in the first year of life. Babies and children have slow development, severe learning problems, very little or no speech, trouble with balance and walking, small head size, and seizures. Many children lose skills they had before, such as the ability to walk.
Christianson syndrome is a rare, life-long, genetic brain condition. It happens because of a change (mutation) in a gene called SLC9A6, which sits on the X chromosome. This gene normally helps brain cells control acid and salt balance inside tiny bags called endosomes. When the gene does not work, brain cells do not develop and talk to each other in a normal way. Children usually have severe learning difficulties, trouble with balance and walking, seizures, small head size after birth, eye movement problems, and often autistic-like behaviour.[1]
This syndrome is caused by changes (mutations) in a gene called SLC9A6, which sits on the X chromosome. Because the gene is on the X chromosome, boys are usually more severely affected, while girls may be mildly affected or sometimes show no clear symptoms. There is no cure yet, but early therapy and good support can help the child’s comfort, learning, and quality of life.
Other names
Doctors and researchers may use different names for the same condition. These names all point to Christianson syndrome or a very closely related SLC9A6-related disorder:
SLC9A6-related syndrome – because it is caused by mutations in the SLC9A6 gene.
Intellectual developmental disorder, X-linked, syndromic, Christianson type – a formal name used in genetics databases for this X-linked learning and development disorder.
X-linked Angelman-like syndrome – an older term, because the symptoms can look similar to Angelman syndrome (happy mood, little speech, seizures, ataxia).
SLC9A6-related neurodevelopmental disorder – a broader term that covers the full range of brain development and behavior problems linked to SLC9A6.
Types
There is only one basic disease (all are due to SLC9A6 mutations), but doctors sometimes talk about “types” or “forms” based on severity, mutation type, or who is affected.
1. Classic Christianson syndrome in males
This is the most common form. Boys have severe developmental delay, very little or no speech, seizures starting early in life, problems with balance and walking, small head size, and a happy or excitable mood with frequent smiling and laughter.
2. Severe early-onset epileptic form
Some boys have seizures that start very early and are hard to control with medicines. These children may have more rapid skill loss, more severe movement problems, and earlier loss of walking. This is still Christianson syndrome but on the more severe end of the spectrum.
3. Milder or atypical male form
A few boys may have features of Christianson syndrome but with milder intellectual disability, better motor skills, or partial speech. Their MRI and genetic test still show SLC9A6-related disease, but daily life abilities may be a little better than in classic cases.
4. Symptomatic female carriers
Girls who carry one changed copy of SLC9A6 can sometimes show developmental delay, learning problems, behavior changes, or mild movement issues, depending on X-inactivation (which X chromosome is active in their cells). Others may be almost symptom-free.
5. SLC9A6 deletion or complex rearrangement form
In some patients, a chunk of the X chromosome including SLC9A6 is missing or rearranged, not just a small mutation in the gene. These large changes can cause Christianson syndrome plus features from nearby genes, leading to more complex or mixed symptoms.
Causes
The root cause of Christianson syndrome is always a harmful change in the SLC9A6 gene. All “causes” listed below are different ways or situations in which that gene change can happen or act.
Loss-of-function mutation in SLC9A6
Most patients have mutations that stop the SLC9A6 gene from making a working NHE6 protein. Without this protein, brain cells cannot control endosomal pH properly, which affects brain development and function.Nonsense mutations
A nonsense mutation is a DNA change that creates a “stop” signal too early in the gene. The protein is cut short and cannot work, which leads to the Christianson syndrome features.Frameshift mutations
Small insertions or deletions of DNA can shift the reading frame of the gene. This usually creates a long string of wrong amino acids and then an early stop, again giving a non-working NHE6 protein.Splice-site mutations
Some mutations affect how the gene’s RNA is cut and joined (splicing). The wrong exons are included or skipped, leading to an abnormal or missing NHE6 protein.Missense mutations
In a missense mutation, one amino acid in the protein changes to another. If this change hits an important part of NHE6, the protein may be unstable or unable to regulate ion transport, causing disease.Large deletions involving SLC9A6
Sometimes a bigger piece of the X chromosome, including SLC9A6, is missing. This completely removes the gene and may also remove nearby genes, leading to Christianson syndrome plus extra features.De novo (new) mutations
In many families, the mutation is not present in either parent but appears for the first time in the child. This is called a de novo mutation and happens by chance during egg or sperm formation.Inherited X-linked mutation from carrier mother
In some cases, the mother carries the SLC9A6 mutation on one of her X chromosomes and passes it to her son. The son has only one X chromosome, so he will show the syndrome if that X carries the faulty gene.Germline mosaicism in a parent
Rarely, a parent may have the mutation in some of their egg or sperm cells but not in their blood cells. This “mosaic” state can cause more than one affected child even though blood tests in the parent look normal.Skewed X-inactivation in females
Females have two X chromosomes. Normally one is turned off in each cell. If the X with the healthy SLC9A6 is switched off more often, the female carrier may show symptoms because more cells use the X with the mutation.Disruption of endosomal pH regulation
SLC9A6 encodes NHE6, a sodium-hydrogen exchanger in endosomes. When NHE6 does not work, endosomes become too acidic. This disrupts recycling of receptors and growth signals in neurons and contributes to brain development problems.Impaired neuronal arborization and synapse formation
Studies in animal models and cells show that loss of NHE6 leads to poor growth of nerve cell branches and fewer synapses. This is a key mechanism behind the intellectual disability and motor problems.Progressive cerebellar neuron loss
Over time, Purkinje cells in the cerebellum can die, leading to shrinking (atrophy) of the cerebellum and worsening balance and walking. This neurodegenerative process is part of the disease cause in older children.Family history of X-linked intellectual disability
In some families, several males across generations have severe intellectual disability and similar features. Later genetic testing shows a shared SLC9A6 mutation as the underlying cause.Consanguinity (parents related by blood)
When parents are related, they may share rare genetic variants. This sometimes helps reveal rare X-linked conditions like Christianson syndrome in extended families, although the gene itself is still SLC9A6.Co-existing genetic modifiers
Other genetic changes outside SLC9A6 may make the syndrome milder or more severe in different individuals, although they are not the main cause. This can partly explain why symptoms vary.Xq26.3 microdeletion syndromes
Some patients have microdeletions around Xq26.3 that include SLC9A6. In such cases, the microdeletion is the immediate cause, and Christianson syndrome is part of the broader deletion syndrome.Pathogenic variants in endosomal trafficking regions of NHE6
Mutations affecting key ion transport or trafficking regions of the NHE6 protein are particularly damaging, leading to severe forms of Christianson syndrome.Mutations discovered on exome or genome sequencing
Many recent cases have been identified when exome or genome sequencing is done for children with unexplained intellectual disability and epilepsy, revealing previously unknown SLC9A6 mutations.Random DNA replication errors
At the deepest level, these mutations arise from natural copying errors when DNA is made in reproductive cells. This background mutation rate is a general cause of many rare genetic disorders, including Christianson syndrome.
Symptoms
Global developmental delay
Babies may learn to smile, sit, crawl, and walk much later than other children. They may also be slow to use their hands or respond to their surroundings. This delay is usually noticed in the first year of life.Severe intellectual disability
Most children have major learning problems. They may not learn to talk, read, or do complex tasks. They often need help with everyday activities throughout life.Absent or very limited speech
Many children never speak clear words. Others may say only a few simple words or sounds. They still can communicate using smiles, eye contact, sounds, or gestures.Seizures (epilepsy)
Seizures often start between 1 and 2 years of age. Different seizure types can occur, and they may be hard to control with medicines. Seizures can worsen when the child is sick or very tired.Ataxia (balance and coordination problems)
Children may have unsteady, wide-based walking, shaky movements, and trouble with coordination. As the cerebellum becomes smaller over time, walking can become harder, and some children lose the ability to walk.Loss of motor skills (regression)
Some children can sit or walk for a time and then lose these skills in later childhood. This regression is linked to progressive changes in the brain, especially in the cerebellum.Microcephaly (small head size)
The head grows more slowly than expected after birth. Over time, the head size falls below the normal curve for age. This is a common and noticeable sign.Happy or excitable mood
Many children have frequent smiling, laughter without a clear reason, and a generally happy or excitable mood. This “happy demeanor” can look similar to what is seen in Angelman syndrome.Hyperactivity and movement restlessness
Children often move a lot, fidget, or have difficulty sitting still. They may have increased movements of the arms and legs and may appear constantly “on the go.”Abnormal eye movements and strabismus
There may be problems with moving the eyes together, “crossed eyes” (strabismus), or limited eye movement. Some children have eye movement problems called ophthalmoplegia.Feeding difficulties and reflux
Babies may have trouble sucking, swallowing, or keeping food down. Gastroesophageal reflux disease (GERD) is common and can cause vomiting, irritability, or poor weight gain.Growth problems and low weight
Many children are shorter and lighter than other children of the same age. Poor feeding, reflux, and high energy use from constant movement and seizures can all reduce growth.Characteristic facial features
Some children have a long narrow face, prominent nose, strong lower jaw, open mouth, large ears, and deep-set eyes. These facial features can help doctors suspect the diagnosis but are not always present.Drooling and swallowing problems
Uncontrolled drooling is common and may be due to low muscle tone around the mouth and poor control of swallowing. This can increase the risk of skin irritation and chest infections from aspiration.Autistic features and behavior difficulties
Some children show limited eye contact, unusual social interaction, repetitive behaviors, or sensory problems. These autistic features add to learning and communication difficulties.
Diagnostic tests
Physical exam
General pediatric and neurologic examination
A doctor checks the child’s overall health, muscle tone, reflexes, head size, and level of alertness. They look for signs like small head size, low muscle tone, and developmental delay. This first exam helps decide which tests to do next.Growth and head-circumference measurement
The child’s height, weight, and head size are plotted on standard growth charts. Falling below normal curves, especially for head size, supports a possible diagnosis of Christianson syndrome or other neurodevelopmental disorders.Detailed developmental assessment
Doctors or therapists assess milestones such as rolling, sitting, walking, and language. Using structured tools, they determine the level of delay in motor, language, social, and daily living skills.Craniofacial and dysmorphology evaluation
A clinical geneticist examines facial shape, jaw, nose, eyes, and other body features. Recognizing a pattern of long narrow face, open mouth, and other features can suggest Christianson syndrome and guide genetic testing.Behavior and mood observation
Clinicians observe how the child interacts, smiles, laughs, and responds to people and the environment. A happy demeanor with frequent unprovoked laughter, plus developmental delay and seizures, raises suspicion for Christianson syndrome or Angelman-like conditions.
Manual tests (bedside or clinic tests)
Muscle tone and strength testing
By gently moving the child’s arms and legs and asking older children to push or pull, the examiner checks for low tone (hypotonia) and weakness. Many children with Christianson syndrome have low tone in infancy and later stiffness with movement problems.Coordination tests (finger-to-nose, heel-to-shin)
Older children may be asked to touch their nose then the examiner’s finger, or slide the heel along the opposite shin. Poor coordination, overshooting, or shaky movements point toward cerebellar ataxia.Balance testing (sitting and standing)
The examiner watches how well the child sits without support, stands, and walks. Many children show a wide-based, unsteady walk and difficulty standing still, which reflects cerebellar and motor system problems.Eye movement examination
Doctors ask the child to follow a moving object or look quickly between two targets. They check for limited movement, jerky tracking, or crossed eyes. Abnormal eye movements support the diagnosis and may point toward Christianson syndrome.Swallowing and feeding assessment
Feeding specialists or speech therapists observe how the child sucks, chews, and swallows liquids and solids. They look for choking, coughing, or reflux. This helps plan safe feeding methods and manage GERD.
Lab and pathological tests
Targeted SLC9A6 gene sequencing
A blood sample is taken and the SLC9A6 gene is read letter by letter. Finding a pathogenic mutation confirms the diagnosis of Christianson syndrome. This is currently the key laboratory test.Chromosomal microarray (CMA)
CMA looks for missing or extra pieces of chromosomes, including deletions in the Xq26 region that contain SLC9A6. This test may be done early in the evaluation of intellectual disability.Intellectual disability or epilepsy gene panel
Sometimes a panel of many genes linked to intellectual disability or epileptic encephalopathy is used. SLC9A6 is often included, and the result can pick up mutations in children with unclear diagnosis.Whole exome or genome sequencing
If earlier tests are negative, exome or genome sequencing can search widely across many genes. This approach has found new SLC9A6 mutations and broadened the known spectrum of Christianson syndrome.Basic metabolic screening
Blood and urine tests for amino acids, organic acids, lactate, and other markers help rule out metabolic diseases that can mimic Christianson syndrome. These tests are usually normal in Christianson syndrome but are important to exclude other diagnoses.
Electrodiagnostic tests
Electroencephalogram (EEG)
EEG records the brain’s electrical activity with small scalp electrodes. In Christianson syndrome, EEG often shows abnormal patterns consistent with epilepsy and can help classify seizure types and guide treatment.Video-EEG monitoring
In some children, longer EEG recordings with video are used. This helps link clinical events (such as staring spells or jerks) with EEG changes and can show how frequent and severe seizures are over a day or more.Electromyography (EMG) and nerve conduction studies (when needed)
These tests measure the electrical activity of muscles and the speed of nerve signals. They are not routine for Christianson syndrome but can be used if doctors suspect an additional neuromuscular problem contributing to motor difficulties.
Imaging tests
Brain MRI (magnetic resonance imaging)
MRI is a key test. Many children with Christianson syndrome show cerebellar atrophy (shrinking of the cerebellum), enlarged spaces around the brain, and overall reduced brain volume. These changes may worsen with age and match the child’s ataxia and regression.Follow-up MRI or other neuroimaging
Repeat MRI scans over the years can show how the cerebellum and brain structures change over time. In some centers, CT or ultrasound may be used early, but MRI is preferred for detailed images. Tracking these changes helps doctors understand disease progression.
Non-pharmacological treatments
These approaches do not use medicine. They help the child’s brain, body, and daily life.
1. Early developmental stimulation
From baby age, play-based therapy uses sounds, colours, touch, and movement to wake up the brain. Simple games like reaching for toys, mirror play, songs, and gentle stretching help brain connections grow. The purpose is to support overall development, even if progress is slow. The mechanism is “use it or lose it”: repeated practice keeps nerve pathways active and helps the brain adapt.
2. Physiotherapy for posture and balance
Physiotherapists use gentle stretches, strengthening, and balance exercises to help with low muscle tone, ataxia (unsteady movements), and contractures. The purpose is to improve sitting, standing, walking, and prevent joints becoming stiff. The mechanism is gradual training of muscles and joints, plus helping the nervous system learn more stable movement patterns.
3. Occupational therapy (daily living skills)
Occupational therapists teach skills like holding a spoon, dressing, brushing teeth, and using switches or simple devices. The purpose is to make the child as independent as possible in daily life. The mechanism is breaking big tasks into tiny steps, practising them often, and using special tools (adapted cutlery, grips, chairs) to match the child’s abilities.
4. Speech and language therapy
Many children with Christianson syndrome have little or no speech. Speech therapists help with understanding language, trying sounds, and using facial expressions or signs. The purpose is to improve communication and reduce frustration. The mechanism is repeated practice of sounds, words, and communication patterns, plus exercises for lips, tongue, and breath control.
5. Augmentative and alternative communication (AAC)
AAC includes picture boards, symbol books, sign language, and electronic devices that “talk” when buttons are pressed. The purpose is to give the child a reliable way to express needs, choices, and feelings, even without spoken words. The mechanism is replacing missing speech with visual or electronic language systems that the child can learn step by step.
6. Special education and individualized learning plans
Children usually need a special school or mainstream school with strong support. An individual plan sets simple, realistic goals in communication, movement, and self-care. The purpose is to give structured learning at the child’s level. The mechanism is using repetition, visual supports, and predictable routines, which suit children with complex learning difficulties.
7. Behaviour therapy and autism supports
Some children show autistic features, irritability, or self-stimulation. Behaviour therapists use positive reinforcement, visual schedules, and calm routines. The purpose is to reduce challenging behaviour and improve social skills. The mechanism is teaching replacement behaviours and using rewards to strengthen good habits while avoiding punishment that may worsen anxiety.[1]
8. Seizure action plan and emergency training
Families, teachers, and carers are taught what to do during a seizure: keep the child safe, time the seizure, and know when to use emergency medicines prescribed by the neurologist. The purpose is to reduce injury and avoid status epilepticus. The mechanism is simple, rehearsed steps that make emergencies less chaotic and get help quickly.
9. Ketogenic or modified ketogenic diet (under specialist care)
For some children with hard-to-treat epilepsy, a high-fat, low-carb ketogenic diet may reduce seizures. A case report in Christianson syndrome showed major seizure improvement with a precision ketogenic plan.[3] The purpose is to use ketones (fat-based fuel) instead of glucose for the brain. The mechanism is not fully understood but may stabilize nerve activity. This diet must be done only in a specialist centre, as it can have serious side effects.
10. Feeding and swallowing therapy
Speech or occupational therapists work on chewing, swallowing, and safe drink thickness. They may suggest certain head positions, slow feeding, and special bottles or cups. The purpose is to reduce choking and keep nutrition safe. The mechanism is teaching better muscle coordination in the mouth and throat.
11. Nutritional support and gastroenterology care
Some children do not gain weight because of poor feeding or reflux. Dietitians plan higher-calorie meals, special formulas, or tube feeds. Gastroenterologists may advise on reflux and constipation. The purpose is to keep growth and energy as normal as possible. The mechanism is matching calorie and nutrient intake to the child’s needs, sometimes using feeding tubes.
12. Posture, seating, and orthotics
Custom chairs, standing frames, and foot orthotics help keep the spine straight and support hips and knees. The purpose is to prevent scoliosis, hip dislocation, and pressure sores. The mechanism is giving external support so weak muscles do not let the body collapse into harmful positions.[2]
13. Mobility aids and wheelchairs
As the condition progresses, some children need walkers or wheelchairs. The purpose is to allow safe movement and participation in daily life, even when independent walking is not possible. The mechanism is replacing lost motor function with mechanical support so the child can still explore and interact with the world.
14. Vision and eye movement support
Eye doctors and therapists can suggest glasses, eye patches, or visual aids for strabismus, nystagmus, or other eye problems. The purpose is to give the best possible vision, which helps learning and movement. The mechanism is correcting focus and training the brain to use visual information better.
15. Sleep hygiene and environmental adjustments
Regular bedtime, dim light, quiet surroundings, and relaxing routines can help when sleep is poor. The purpose is to improve sleep quality without always relying on medicines. The mechanism is training the body clock and reducing stimulation before sleep.
16. Pain assessment tools for non-verbal children
Children with Christianson syndrome can have pain from reflux, constipation, or orthopedic problems but may not be able to say where it hurts. Special pain scales for non-verbal children help carers read facial expressions, crying, and body posture.[4] The purpose is to detect pain early. The mechanism is structured observation rather than guessing.
17. Dental and oral care programs
Regular tooth-brushing support, fluoride, and planned dental visits under sedation or anaesthesia may be needed. The purpose is to prevent dental pain and infections that can worsen feeding and behaviour. The mechanism is consistent cleaning plus professional treatment, adapted to the child’s tolerance.
18. Psychosocial support for families
Parents may feel stress, sadness, or exhaustion. Counselling, support groups, and respite care give emotional and practical help. The purpose is to protect caregiver mental health and prevent burnout. The mechanism is sharing the load and offering coping strategies and community support.
19. Regular multidisciplinary follow-up
Children benefit from regular visits with neurology, genetics, rehabilitation, orthopaedics, gastroenterology, and ophthalmology teams.[1][2] The purpose is to catch new problems early and adjust therapies as the child grows. The mechanism is planned surveillance and teamwork instead of waiting for crises.
20. Palliative and complex care services (if needed)
For very severe cases, palliative care teams help manage difficult symptoms, support decisions, and focus on quality of life. The purpose is comfort and dignity, not “giving up”. The mechanism is careful symptom control, coordinated services, and support for the whole family.
Drug treatments
Important: There is no medicine approved to cure Christianson syndrome itself. Medicines are used to treat seizures, spasticity, reflux, sleep problems, behaviour, pain, and infections. Most are approved by the FDA for epilepsy or other conditions, not specifically for Christianson syndrome.[5] Exact drug choices and doses must be decided by a paediatric neurologist or other specialist.
I will list 20 commonly used medicines in similar epileptic and neurodevelopmental conditions. Use this list only as background information.
1. Valproic acid (Depakene / Depakote – anti-seizure)
Valproic acid is a broad-spectrum anti-epileptic drug approved for many seizure types. The purpose in Christianson syndrome is to reduce generalized and mixed seizures and possibly improve mood stability. The mechanism involves increasing GABA (a calming brain chemical) and changing sodium and calcium channels. Dose is based on weight and blood levels and must follow the product label and doctor’s plan. Side effects can include weight gain, tremor, liver problems, and serious pregnancy risks.
2. Levetiracetam (Keppra / Spritam – anti-seizure)
Levetiracetam is another broad-spectrum anti-seizure medicine used widely in children. The purpose is to lower seizure frequency and intensity. Its mechanism is binding to a synaptic protein called SV2A, which helps control neurotransmitter release. Dose is adjusted by weight and kidney function. Common side effects include irritability, mood change, and sleep problems, so behaviour must be watched carefully.
3. Topiramate (Topamax – anti-seizure)
Topiramate is used for focal and generalized seizures, and in some Lennox-Gastaut–like epilepsy, which has also been described in Christianson syndrome.[3][6] The purpose is seizure reduction when first-line drugs are not enough. It works on sodium channels, GABA, and glutamate receptors. Side effects may include slowed thinking, weight loss, kidney stones, and tingling feelings.
4. Lamotrigine (Lamictal – anti-seizure, mood stabilizer)
Lamotrigine helps with focal and generalized seizures and sometimes mood regulation. The purpose in this setting is to add seizure control and possibly improve affect. It blocks voltage-gated sodium channels and may reduce glutamate release. It must be started very slowly to avoid serious skin rashes (Stevens–Johnson syndrome). Doctors follow strict titration schedules from the label.
5. Clobazam (Onfi / Sympazan – benzodiazepine for seizures)
Clobazam is a benzodiazepine approved for seizures in Lennox-Gastaut syndrome and often used as add-on therapy. The purpose is to help control frequent drop attacks or prolonged seizures. It enhances GABA, the main calming neurotransmitter. Side effects include sleepiness, drooling, behaviour change, and dependence with long-term use.
6. Rescue benzodiazepines (e.g., diazepam, midazolam – emergency use)
These medicines are used as “rescue” in a seizure action plan to stop prolonged seizures or clusters. The purpose is to prevent status epilepticus and emergency hospital visits. They act quickly on GABA receptors to calm the brain. Side effects include drowsiness and slowed breathing, so carers must follow the doctor’s exact instructions.
7. Melatonin (sleep support)
Melatonin is a natural hormone that helps control sleep–wake rhythm. In one Christianson syndrome case report, melatonin improved sleep with no major side effects.[7] The purpose is to improve sleep onset and quality. The mechanism is resetting the body clock. Doses and timing vary; too much can cause morning sleepiness or vivid dreams.
8. Baclofen (oral – for spasticity)
Baclofen is a muscle relaxant used in cerebral palsy and other spastic conditions. The purpose is to reduce stiffness, ease movement, and reduce pain from tight muscles. It acts as a GABA-B receptor agonist in the spinal cord. Dose is increased slowly. Side effects include drowsiness, weakness, and, if suddenly stopped, dangerous withdrawal.
9. Botulinum toxin injections (for focal spasticity)
Botulinum toxin can be injected into over-active muscles in legs or arms to reduce stiffness. The purpose is easier positioning, hygiene, and fewer contractures. The mechanism is temporary blocking of nerve signals to the muscle. Effects last about 3–6 months. Side effects are usually local weakness; systemic effects are rare but possible.
10. Proton pump inhibitors (e.g., omeprazole – reflux)
These medicines reduce stomach acid. The purpose is to treat gastro-oesophageal reflux, which is common in children with severe disabilities and can cause pain, vomiting, or aspiration. They block the proton pumps in stomach lining cells. Long-term use should be reviewed regularly because of possible nutrient and infection risks.
11. Laxatives (e.g., polyethylene glycol – constipation)
Chronic constipation can worsen discomfort, reflux, and behaviour. Osmotic laxatives draw water into the stool to soften it. The purpose is comfortable, regular bowel movements. The mechanism is physical, not neurological. Dose is adjusted slowly; overuse can cause diarrhoea or electrolyte changes.
12. Antisialogogue medicines (e.g., glycopyrrolate – drooling)
These medicines reduce saliva in children with severe drooling that causes skin breakdown or aspiration risk. The purpose is to keep the mouth and chin drier and reduce chest infections from saliva inhalation. They work by blocking muscarinic receptors. Side effects can include dry mouth, constipation, and urinary retention.
13. Mood stabilizing / behavioural medicines (used cautiously)
In some older children or adults, medicines like SSRIs (for anxiety/depression) or atypical antipsychotics (for severe aggression) may be tried. The purpose is to make daily care safer and calmer. The mechanism depends on the drug (e.g., serotonin or dopamine effects). These medicines have serious side effects, so specialists monitor weight, blood tests, and movement.
14. Analgesics (paracetamol, ibuprofen – pain and fever)
Simple pain relievers help with everyday pain, teething, or fever. The purpose is comfort and better sleep. Paracetamol works in the brain to reduce pain and fever; ibuprofen also reduces inflammation. Doses must follow weight-based instructions exactly; overdoses can harm the liver or kidneys.
15. Anti-spasticity pumps (intrathecal baclofen – advanced cases)
In some older children with severe spasticity, a pump can deliver baclofen into the spinal fluid. This is both a surgery and a medicine. The purpose is strong spasticity control with lower total dose. The mechanism is direct action at spinal GABA-B receptors. Pump problems or sudden stoppage can be dangerous, so this is reserved for specialized centres.
16. Anti-reflux pro-kinetic agents (selected cases)
In some children with severe reflux and slow stomach emptying, doctors may use pro-kinetic medicines. The purpose is to help food move through the stomach quicker. The mechanism is increasing gut muscle activity. These drugs can have neurological side effects, so risk–benefit is carefully considered.
17. Anti-epileptic alternatives (e.g., oxcarbazepine)
In some patients, other anti-seizure drugs may be tried depending on seizure type and individual response. The purpose is seizure control with acceptable side effects. The mechanism often involves sodium channel blocking or other brain pathways. Choice depends on EEG patterns, comorbidities, and drug interactions.
18. Vitamin D and bone health medicines (if deficient)
Because of low mobility, poor diet, or anti-epileptic drugs, bone density can be low. Vitamin D, calcium, or sometimes bisphosphonates may be used. The purpose is to support strong bones and prevent fractures. Mechanisms include helping calcium absorption and slowing bone breakdown.
19. Antibiotics (for recurrent chest or urinary infections)
Children with swallowing problems may get repeated chest infections. Infections are treated with antibiotics as needed. The purpose is to clear infection and prevent sepsis. The mechanism is killing or stopping growth of bacteria. Overuse should be avoided to reduce resistance.
20. Individual trial of other anti-seizure combinations
Because Christianson syndrome seizures can be hard to control, doctors may try several combinations before finding the best one. The purpose is to reach the lowest seizure burden with acceptable side effects. The mechanism depends on each drug. This is a slow, careful process done only by specialists, often using EEG and blood tests to guide choices.
Dietary molecular supplements
There is no strong proof that any supplement cures Christianson syndrome. Some may help general brain and body health, or support seizures and bones. All should be discussed with the care team to avoid interactions.
Omega-3 fatty acids (fish oil or algae oil) – May support brain cell membranes and reduce inflammation. Often used for general brain health and sometimes for mood. Dose is based on weight and product; too much can upset the stomach or affect bleeding.
Vitamin D – Important for bones, muscle function, and immune health. Children with limited sun, feeding problems, or anti-epileptic drugs often need extra. Blood levels guide dose; high doses without testing can be harmful.
Calcium – Needed for bones and normal muscle and nerve signals. If intake is low or vitamin D is low, supplements may be used. Dose depends on age; too much can cause kidney stones or constipation.
Magnesium – Helps with nerve and muscle function and may have a mild calming effect. Sometimes used when levels are low or in constipation formulas. Excess magnesium can cause diarrhoea or, rarely, dangerous heart effects.
Carnitine – Helps cells use fat for energy. Valproic acid can lower carnitine levels, so supplements are sometimes used when blood levels are low. Carnitine may support energy and liver function but can cause fishy body odour or stomach upset.
Coenzyme Q10 (CoQ10) – A molecule involved in cell energy production. Some families use it hoping to support mitochondria and reduce fatigue, although evidence is limited. Usually well tolerated in moderate doses but may cause stomach upset.
B-complex vitamins – B1, B6, B12 and others support nerve function and energy. Given in standard doses, they can help correct deficiencies. Extremely high doses, especially B6, can cause nerve problems, so balanced products and medical advice are important.
Probiotics – “Good bacteria” to support gut health, especially when children need frequent antibiotics or have reflux and constipation. Healthy gut bacteria may affect immunity and even brain function. In immune-weakened children, they must be used carefully.
MCT oil (medium-chain triglycerides) – Often used as part of ketogenic or high-fat medical diets for epilepsy. It provides easily used fat energy and helps maintain ketosis. It can cause diarrhoea or stomach pain if increased too quickly.
Iron and trace minerals (zinc, selenium) – If blood tests show deficiency, supplements may improve energy, immunity, and cognitive function. Doses must follow lab results. Too much iron is toxic and can damage organs.
Immune-booster, regenerative and stem-cell-related drug approaches
For Christianson syndrome, there are no approved immune-booster, regenerative, or stem cell drugs. Research is ongoing in related neurodevelopmental and neurodegenerative disorders.
Gene therapy targeting SLC9A6 (experimental) – Future gene therapy might add a working copy of the SLC9A6 gene to brain cells. The purpose would be to correct the root cause. The mechanism is using viral vectors to deliver DNA. At present, this is laboratory and animal research only, not standard care.
Neurotrophic factor therapies (experimental) – Drugs or biologics that increase growth factors like BDNF or NGF may help support neuron survival in some conditions. The idea is to protect or repair brain cells. There is no approved product for Christianson syndrome, and such treatments would only be used in clinical trials.
Stem cell transplantation (research concept) – Transplanting stem cells into the brain or spinal cord aims to replace or support damaged neurons. For Christianson syndrome, this remains theory and research. Risks include immune reaction, tumours, and surgery complications.
Immune-modulating biologics (not specific for Christianson syndrome) – In other neurological diseases with inflammation, biologics (like monoclonal antibodies) can change immune activity. Christianson syndrome is mainly a developmental, not inflammatory, disease, so these are not standard and would only be considered in research settings.
Mitochondrial support drugs (research) – Some experimental drugs aim to improve cell energy factories (mitochondria). Because many neurodevelopmental disorders show energy stress, these may one day help, but none are approved for Christianson syndrome at this time.
Clinical trial medicines (future) – As more is learned from large Christianson syndrome cohorts, targeted medicines may be tested in trials.[1][6] Families can ask their genetics or neurology team about registries and research, but should never use unregulated “stem cell” treatments advertised online.
Surgeries and procedures
Gastrostomy tube (G-tube) placement
A small tube is placed through the skin into the stomach in an operating theatre. It is done when a child cannot safely eat or drink enough by mouth. The purpose is safe feeding, good growth, and easier medicine delivery.Anti-reflux surgery (fundoplication) in selected cases
Surgeons wrap the top of the stomach around the lower oesophagus to reduce reflux. It is considered when severe reflux does not respond to medicines and threatens the lungs. The purpose is to stop acid going up and reduce vomiting and aspiration risk.Scoliosis correction surgery
Metal rods and screws may be used to straighten a curved spine. This is considered if scoliosis is severe and affects sitting, lungs, or comfort. The purpose is to improve posture, breathing, and pain control.Orthopaedic surgeries for hips and contractures
Procedures can include tendon lengthening or hip reconstruction when joints are dislocated or fixed. The purpose is better sitting, easier care, and pain relief. Surgery is usually combined with long-term physiotherapy and bracing.Vagus nerve stimulation (VNS) implantation
A small device is placed under the chest skin with a wire to the vagus nerve in the neck. It sends tiny pulses to help reduce seizures in drug-resistant epilepsy. The purpose is fewer or milder seizures when medicines and diets are not enough.
Prevention and long-term care
Because Christianson syndrome is genetic, we cannot prevent the condition itself in an affected child. But we can prevent many complications:
Keep vaccinations up to date to prevent serious infections.
Use seizure action plans and regular neurologist review to reduce emergency seizures.
Treat reflux and feeding problems early to prevent aspiration pneumonia.
Maintain good bowel habits and treat constipation to avoid pain, blockage, and poor appetite.
Use good posture support to prevent scoliosis and joint contractures.
Protect skin with good hygiene, moisture barriers, and pressure relief to prevent sores.
Encourage safe movement and supported standing to help bones and circulation.
Maintain regular dental care to prevent tooth pain and infection.
Offer psychosocial support to reduce caregiver burnout, which can harm care quality.
Provide genetic counselling for the family so parents and relatives understand recurrence risk and options for future pregnancies.
When to see doctors (urgent and routine situations)
Seek urgent medical help or emergency care if:
Seizure lasts longer than the time on your seizure plan, or seizures repeat without full recovery.
The child has breathing trouble, blue lips, or very noisy breathing after a seizure or vomiting.
There is repeated vomiting, no wet nappies or urine for many hours, or signs of dehydration.
The child has high fever with seizures, stiff neck, or unusual drowsiness.
There is severe pain, especially in the tummy, hips, or back, or sudden change in movement.
See the usual doctors soon (not necessarily emergency) if:
Feeding slowly worsens, weight gain stops, or coughing with meals increases.
New or more frequent seizures appear.
Sleep becomes very disturbed for many nights.
Behaviour changes suddenly (more irritability, crying, or aggression) without clear reason.
You feel unable to cope at home and need extra support or equipment.
Always follow the specific safety instructions your own team has given you.
Diet: what to eat and what to avoid
What to eat (with dietitian advice):
Balanced meals with fruits, vegetables, whole grains, and protein (eggs, beans, fish, meat) to give vitamins, minerals, and energy.
Enough fluids (water, suitable juices, prescribed formulas) to prevent dehydration and constipation.
High-calorie foods like nut butters, oils, cream, or special formulas when weight gain is poor (only if safe for the child’s swallowing and allergy status).
Fibre-rich foods such as fruits, vegetables, and whole grains to help prevent constipation, adjusted for the child’s tolerance.
If on ketogenic or special diet, follow the diet team’s exact plan; they will measure and balance fats, proteins, and carbohydrates.
What to avoid or limit (unless doctors say otherwise):
Very hard, dry, or crumbly foods that increase choking risk (nuts, hard biscuits) if swallowing is weak.
Large amounts of sugary drinks and sweets, which add empty calories and worsen dental problems.
Highly processed salty snacks, which may disturb fluid balance and appetite.
Unplanned “home-made” ketogenic diets without medical guidance, which can cause serious illness.
Herbal or “immune-boosting” products from the internet that are not checked by your doctors – they may interact with anti-seizure drugs or be unsafe.
Frequently asked questions
1. Is Christianson syndrome curable?
No. Christianson syndrome is a life-long genetic condition. At present, there is no cure to fix the SLC9A6 gene. Treatment focuses on seizures, feeding, movement, learning, and comfort. Research on gene-based and other advanced therapies is still in early stages.[1][6]
2. Can my child learn new skills?
Yes. Progress is usually slow and limited, but with early therapy, some children learn to sit, stand with support, use simple signs or pictures, and show clear preferences. Even small gains can improve quality of life.
3. Will my child walk?
Some children walk with help for part of their childhood; others never walk independently. Over time, movement can worsen, and many will need wheelchairs for longer distances. Physiotherapy, orthotics, and surgery can help maintain comfort and function.[2]
4. How serious are the seizures?
Seizures are common and can be hard to control. Some children have syndromes like Lennox-Gastaut, with frequent, mixed seizures.[6] Many improve with a combination of anti-seizure medicines, diets, and sometimes VNS. A seizure plan is essential.
5. What is life expectancy?
We still do not know the full life span because Christianson syndrome is rare, and many adults have only recently been recognised.[6] Some individuals live into adulthood, but serious seizures, infections, or feeding problems can shorten life. Good supportive care may help reduce risks.
6. Does Christianson syndrome cause pain?
The condition itself does not directly “cause pain,” but children can have painful problems like reflux, constipation, contractures, scoliosis, or hip dislocation. Many children cannot describe pain, so carers must watch for changes in crying, sleep, or movement.[4]
7. Is Christianson syndrome the same as autism?
No. Many children have autistic features, such as poor eye contact or repetitive behaviour, but Christianson syndrome is a specific genetic disorder. A child can have both Christianson syndrome and a diagnosis of autism spectrum disorder.
8. Can girls be affected?
Yes, but usually more mildly because girls have two X chromosomes and may still have some cells with a normal copy of the gene. Symptoms can still be significant and need support.[1]
9. Is Christianson syndrome inherited?
It is X-linked. Sometimes the mutation is inherited from a mother who may have few or no symptoms; other times it appears “new” (de novo) in the child. Genetic counselling can explain individual family risk.
10. Should my child get all vaccines?
In most cases, yes. Vaccines are very important to prevent infections in children with complex medical needs. The timing of some vaccines (for example during uncontrolled seizures) may be adjusted by your doctor, but skipping vaccines can be dangerous.
11. Can my child go to school?
Yes. Many children attend special education or mainstream schools with support. Education teams can adapt the environment, use communication aids, and focus on simple, meaningful goals like choice-making and social interaction.
12. How can I know if a new treatment on the internet is real?
Check if it is part of a registered clinical trial or recommended by recognised centres or charities. Be very cautious of expensive “stem cell cures”, secret methods, or treatments offered without proper evidence or regulation. Always discuss new ideas with your medical team first.
13. Can diet alone control seizures?
For some children with epilepsy, a ketogenic diet can greatly reduce seizures, and there is at least one report of benefit in Christianson syndrome.[3] However, diet is not a cure and does not work for everyone. It must be supervised by an experienced team and usually combined with medicines.
14. What research is happening now?
Recent studies have described more patients, natural history (how the condition changes over time), and the full range of symptoms.[1][6] This information is needed before trying new treatments. Families can join registries and studies through genetics clinics or patient organisations.
15. What is the most important thing I can do as a parent or carer?
You know the child best. Keeping a simple diary of seizures, sleep, feeding, pain behaviours, and mood can greatly help doctors adjust treatment. Seeking emotional support for yourself is also vital; a supported caregiver can provide safer, more loving care over the long term.
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.
