1p36 microdeletion syndrome (also called 1p36 deletion syndrome) is a genetic condition that starts before birth. A small piece of chromosome 1, from the short arm (called “p”) at band 36, is missing in almost all body cells. This missing piece carries many important genes, so the body and brain do not develop in the usual way. Children often have learning difficulties, delayed speech and walking, weak muscles, seizures, and special facial features. Many also have heart, vision, hearing, or growth problems, but the exact mix of problems is different in every child.
1p36 microdeletion syndrome (also called 1p36 deletion syndrome) is a genetic condition where a small piece is missing from the short arm (p arm) of chromosome 1 at position 36. This tiny missing piece contains several important genes that help the brain, heart, muscles, and other organs grow and work properly. Because of this deletion, children can have developmental delay, learning difficulty, low muscle tone, seizures, feeding problems, heart defects, vision or hearing problems, and characteristic facial features. There is no way to “replace” the missing genetic material yet, so treatment focuses on early diagnosis, careful monitoring, and managing each symptom in a personalized way by a multidisciplinary team (pediatricians, neurologists, cardiologists, therapists, and dietitians).
Because 1p36 microdeletion syndrome affects many body systems, long-term care usually includes regular developmental assessments, brain and heart imaging, hearing tests, and growth monitoring. Many children can make meaningful progress in motor skills, communication, and quality of life when they receive early intervention services such as physiotherapy, occupational therapy, and speech and language therapy, combined with appropriate medications for seizures or heart problems when needed. Family education and psychosocial support are also essential, because this is a chronic condition that affects the whole family, not only the child.
This syndrome is one of the most common chromosome “terminal deletion” conditions. Studies suggest it affects about 1 in 5,000–10,000 babies. The size of the missing piece can vary, but it usually involves the tip of chromosome 1p and may extend several million DNA “letters” long. The larger the missing piece, the higher the chance of more medical problems, but even small deletions can cause clear symptoms.
Other names
Other names
Doctors and articles may use several different names for the same condition. All of these point to the same basic problem: a missing segment at chromosome 1p36.
1p36 microdeletion syndrome
1p36 deletion syndrome
Chromosome 1p36 deletion syndrome
Monosomy 1p36
Distal 1p36 deletion syndrome
Terminal 1p36 deletion syndrome
Types
These “types” describe how or where the chromosome piece is missing. They do not change the basic name of the condition, but they can affect how severe it is or how it is inherited.
Terminal 1p36 deletion – The tip of chromosome 1 is missing. This is the most common type.
Interstitial 1p36 deletion – A piece is missing from the middle of 1p36, but the very tip is still present.
Large 1p36 deletion – A big segment is missing, often including many genes.
Small (micro) 1p36 deletion – Only a small part is missing. Symptoms can still be important.
Simple de novo deletion – A new deletion that happened for the first time in the child and is not seen in either parent.
Deletion from a parental balanced translocation – One parent carries a “balanced” chromosome swap. The child receives an “unbalanced” version with a missing piece at 1p36.
Deletion with ring chromosome 1 – Chromosome 1 forms a ring and loses material, including 1p36.
Mosaic 1p36 deletion – Only some of the body’s cells have the deletion; other cells are normal.
Pure 1p36 deletion – The only chromosome change is a missing section at 1p36, with no extra genetic material from other chromosomes.
Complex rearranged 1p36 deletion – 1p36 is missing together with other gains or losses of DNA on other chromosome regions.
Causes of 1p36 microdeletion syndrome
In simple words, the “cause” is a missing piece of chromosome 1p36. Most of the time this happens by chance when the egg, sperm, or very early embryo forms. Parents usually did nothing wrong to cause it. Below are 20 ways or mechanisms that explain how or why the deletion can appear.
Random error in egg formation
Sometimes, while the mother’s egg cells are being made, a small part of chromosome 1p36 breaks off and is lost. This random mistake is called a “de novo” deletion. It is not caused by anything the mother did or did not do.Random error in sperm formation
The same type of random break can happen when the father’s sperm cells form. A sperm carrying the deletion can join with a normal egg and lead to a baby with 1p36 microdeletion syndrome.Error during very early embryo cell division
In some babies, both egg and sperm are normal, but the deletion appears during the first few cell divisions after fertilization. The result may be mosaic 1p36 deletion, where some cells have the deletion and some do not.Terminal break at the tip of chromosome 1p
The chromosome can break near the tip of its short arm. The broken tip is lost instead of being repaired, causing a terminal deletion at 1p36. This is a common cause of the syndrome.Interstitial deletion inside 1p36
Two breaks can occur inside the 1p36 region. The segment between the breaks is lost, and the remaining ends rejoin. This creates an interstitial deletion.Parental balanced translocation involving 1p36
About 1 in 5 affected children inherit an unbalanced chromosome from a parent who carries a balanced translocation. The parent is usually healthy but has swapped pieces between chromosomes. The child receives too little 1p36 material.Parental inversion involving 1p36
In some families, a parent has an inversion, where a chromosome piece flips around. When eggs or sperm form, the inversion can lead to a missing 1p36 segment in the child.Ring chromosome 1 formation
Sometimes both ends of chromosome 1 break and join together to make a ring. The broken tips, including 1p36, are lost. This ring can cause similar features to 1p36 microdeletion syndrome.Unequal crossing-over during meiosis
During egg and sperm formation, chromosomes normally swap equal pieces. If the swap is unequal in the 1p36 region, one chromosome can lose a piece, causing the deletion.Non-homologous end joining after DNA damage
If DNA breaks occur near 1p36, the cell tries to repair them. An imperfect repair process may join the ends without replacing the lost piece, leaving a deletion.Complex chromosome rearrangement including 1p36 loss
In some people, there are several breaks and re-joins between different chromosomes. One part of this complex event can be loss of a 1p36 segment.Germline mosaicism in a parent
A parent can have some egg or sperm cells with the deletion and others without it. The parent’s blood test may look normal, but the child can still inherit a 1p36 deletion.Deletions at slightly different positions within 1p36
Studies show that breakpoints are most often between 1p36.13 and 1p36.33, but the exact position differs among patients. Different breakpoints are different sub-causes within the same syndrome.Loss of key genes that control brain development
Important genes in 1p36 help brain cells grow and connect. When these genes are missing, brain structure and function change, leading to developmental delay and seizures.Loss of genes important for heart structure and function
Genes in 1p36 also help the heart form and pump properly. Their loss can cause heart defects or cardiomyopathy (weak heart muscle).Loss of genes involved in muscle tone and movement
Some deleted genes influence muscle tone and motor control. Without them, babies often have low muscle tone (hypotonia) and delayed sitting or walking.Loss of genes needed for normal hearing
Affected genes in 1p36 are linked with ear and nerve development. Their absence makes hearing problems more likely.Loss of genes needed for normal vision and eye structure
Some genes in this region help build the eyes and visual pathways. Their loss is one reason for the eye problems often seen in this syndrome.Loss of genes affecting growth and body build
Children with 1p36 deletions often have short stature, small head size, or other growth problems because growth-control genes are missing.Cause not identified beyond “deletion at 1p36”
In many families, doctors cannot say exactly why the deletion happened. The final “cause” remains an unexplained random event in cell division, even after detailed genetic testing.
Symptoms of 1p36 microdeletion syndrome
Symptoms can be mild or severe and vary from child to child. Not every person has all of the problems listed here.
Global developmental delay
Many children reach milestones like sitting, crawling, and walking later than other children. They may need extra help and therapy to learn motor skills and self-care skills such as feeding and dressing.Intellectual disability or learning difficulty
Thinking, understanding, and problem-solving can be slower. School learning may be hard. The degree of difficulty ranges from mild to severe and often stays for life, but early teaching and support can improve skills.Severely limited or absent speech
Many children say very few words or may not speak at all. Some use signs, pictures, or communication devices. Speech therapy is usually needed for many years.Low muscle tone (hypotonia)
Babies often feel “floppy” when carried. Their head may lag when pulled to sit, and they may struggle to roll or sit without support. Muscle tone often improves with age but usually stays lower than average.Seizures or epilepsy
About half or more of people with this syndrome have seizures. Seizures may start in infancy or childhood and can be of different types, such as staring spells or shaking. Anti-seizure medicines and regular EEG checks are often needed.Feeding difficulties and poor weight gain
Many babies have trouble sucking, swallowing, or keeping milk down. This can lead to poor growth or “failure to thrive.” Some children need thickened feeds, special bottles, or feeding tubes for a time.Heart defects or heart muscle disease
Some children are born with holes in the heart walls, abnormal heart valves, or cardiomyopathy (weak heart muscle). They may tire easily, breathe fast, or have poor feeding. Heart scans and ongoing cardiology care are important.Hearing loss
Mild to severe hearing loss is common. Children may respond poorly to sounds, need higher volume, or have frequent ear infections. Hearing aids, ear tubes, or other interventions can help.Vision problems
Children may be short-sighted, long-sighted, or have a squint (crossed eyes). Some have cataracts, optic nerve problems, or reduced vision. Regular eye exams and glasses or surgery may be needed.Distinctive facial features
Many children share certain facial traits: small head, broad flat nose, straight eyebrows, deep-set eyes, late-closing soft spot on the head, pointed chin, or low-set ears. These features help doctors suspect the syndrome but do not affect the child’s personality or worth.Behavioral and emotional difficulties
Some children show irritability, temper outbursts, repetitive movements, sleep problems, or behaviors on the autism spectrum. Good routines, structure, and behavioral therapy can make daily life easier.Growth delay and short stature
Many children are smaller than peers in height and weight, even with good nutrition. Some also have a small head (microcephaly). Growth charts and endocrine evaluations may be needed.Skeletal and limb differences
Common findings include short fingers and toes, bent fingers (camptodactyly), curved fifth fingers, short feet, or other bone changes. These may affect fine motor tasks or walking but can often be helped with therapy or orthotic support.Gastro-intestinal problems
Reflux, constipation, and feeding intolerance are frequent. Some children vomit often, arch their back with feeds, or have pain with stools. Treatment may include medication, diet change, and sometimes surgery.Kidney and genital abnormalities
A minority of children have structural kidney problems or differences in the genital organs. These may show up on ultrasound and can require follow-up with a kidney or urology specialist.
Diagnostic tests for 1p36 microdeletion syndrome
Doctors use a mix of physical examination, bedside/manual tests, laboratory and genetic tests, electrodiagnostic tests, and imaging tests to diagnose 1p36 microdeletion syndrome and to look for complications.
Physical examination (clinical) tests
Full physical examination and growth charting
The doctor measures weight, length/height, and head size and compares them with standard growth charts. They look for small head size, short stature, and poor weight gain. This basic exam often gives the first clue that a chromosome condition like 1p36 microdeletion may be present.Detailed facial and dysmorphology examination
A specialist in genetics or dysmorphology carefully studies facial features, skull shape, hands, and feet. They look for patterns such as straight eyebrows, deep-set eyes, broad flat nose, pointed chin, and short fingers and toes. This visual pattern helps suggest 1p36 microdeletion syndrome.Neurological examination
The doctor checks muscle tone, strength, reflexes, coordination, and movement. Low muscle tone, weak reflexes, or unusual movements may support the diagnosis and guide the need for brain imaging and EEG.Cardiovascular examination
Using a stethoscope, the doctor listens for heart murmurs, irregular rhythms, or signs of heart failure (such as fast breathing or swelling). Any abnormal findings may suggest congenital heart disease or cardiomyopathy, both common in this syndrome, and lead to further heart tests.
Manual and bedside functional tests
Developmental screening and milestone assessment
Simple tools and checklists are used to see when a child smiled, rolled, sat, walked, and started using words. Large delays in several areas raise suspicion for a global developmental disorder like 1p36 microdeletion syndrome.Motor and muscle tone assessment by therapist
Physical or occupational therapists use hands-on tests to evaluate sitting balance, standing, walking, and fine hand use. They rate muscle tone and coordination. The results help plan therapy and show how strongly the deletion affects movement.Simple vision screening (charts and object tracking)
For older children, eye charts or pictures check how clearly they see at different distances. For babies, the examiner watches how the eyes follow toys or lights. These simple tests can show if more detailed eye exams are needed.Basic hearing screening (response to sounds or portable devices)
Clinicians may clap, use rattles, or small beeping devices to see if the child responds to sounds. If responses are weak or absent, more advanced hearing tests are arranged, since hearing loss is common in 1p36 microdeletion syndrome.
Laboratory and pathological / genetic tests
Standard karyotype (chromosome analysis)
A blood sample is used to view chromosomes under a microscope. Large deletions at 1p36 and some translocations can be seen. However, very small deletions may be missed, so more sensitive tests are often added.Chromosomal microarray analysis (CMA / array-CGH)
This test scans all chromosomes at very high resolution to detect small gains or losses of DNA. It is one of the main tools to confirm a 1p36 microdeletion and to measure its size. It can also detect additional hidden changes that may affect prognosis.Fluorescence in situ hybridization (FISH) for 1p36
FISH uses glowing DNA probes that attach to the 1p36 region. If a probe does not attach on one chromosome 1, a deletion is present. FISH is very useful when a karyotype suggests a rearrangement or when testing parents for balanced translocation.Quantitative PCR (qPCR) or MLPA for key 1p36 genes
qPCR or MLPA can count how many copies of certain genes (such as SKI or PRKCZ) are present. A lower copy number than normal supports a diagnosis of 1p36 microdeletion syndrome and can be a low-cost test in some centers.Metabolic and general blood tests
Basic blood tests check electrolytes, liver and kidney function, blood sugar, and sometimes metabolic markers. These tests do not diagnose the syndrome, but they help rule out other causes of seizures, poor growth, or developmental delay and guide safe treatment.Thyroid function tests
Blood tests for thyroid hormones and TSH help detect thyroid problems, which can also affect growth and development. Some children with 1p36 microdeletion syndrome have thyroid issues and benefit from early treatment.
Electrodiagnostic tests
Electroencephalogram (EEG)
EEG records the brain’s electrical activity using small scalp electrodes. In children with seizures, EEG often shows abnormal rhythms linked to epilepsy. It helps choose seizure medicines and monitor whether treatment is working.Electrocardiogram (ECG)
ECG measures the heart’s electrical signals. It can show rhythm problems, conduction delays, or signs of heart muscle strain that are sometimes present when cardiomyopathy or structural heart disease occurs in 1p36 microdeletion syndrome.Brainstem auditory evoked responses (BAER / ABR)
This test measures how sound signals travel from the ear to the brainstem. It uses earphones and scalp electrodes. It is very helpful for confirming hearing loss in babies or children who cannot complete standard hearing tests.
Imaging tests
Brain MRI
Magnetic resonance imaging (MRI) gives detailed pictures of the brain. Many people with 1p36 microdeletion syndrome have structural changes, such as thin corpus callosum, wide fluid spaces, or other malformations. MRI helps explain seizures, motor delay, and other neurological signs.Echocardiogram (heart ultrasound)
This painless scan uses sound waves to show how the heart looks and beats. It can detect holes between heart chambers, valve problems, or cardiomyopathy that are linked with 1p36 microdeletion syndrome. Regular follow-up scans may be needed.Abdominal and renal ultrasound
Ultrasound of the abdomen and kidneys checks for structural kidney problems or other organ differences sometimes seen in this syndrome. It is non-invasive and safe, so doctors often use it when 1p36 microdeletion is confirmed.
Non-Pharmacological Treatments
1. Early intervention developmental programs
Early intervention programs combine several therapies (physio, occupational, speech) from infancy to support motor, language, and social development in children with 1p36 microdeletion syndrome. These services are usually home-based or center-based and are tailored to each child’s strengths and difficulties. The purpose is to maximize brain plasticity in early life, when the nervous system is most able to learn new skills. The main mechanism is repeated, structured practice of age-appropriate tasks in a playful way, helping the brain form new connections that partly compensate for the genetic deletion.
2. Physiotherapy (physical therapy)
Physiotherapy focuses on improving muscle tone, posture, balance, and gross motor skills such as rolling, sitting, standing, and walking. In 1p36 microdeletion syndrome, low muscle tone (hypotonia) and motor delay are common, so regular physiotherapy sessions teach targeted exercises and stretches. The purpose is to improve strength and coordination, reduce joint stiffness, and prevent contractures or scoliosis. The mechanism is repeated muscle activation and weight-bearing that stimulate muscle growth, joint alignment, and neuromuscular control, helping children become as mobile and independent as possible.
3. Occupational therapy (OT)
Occupational therapy helps children perform everyday activities such as grasping toys, feeding, dressing, writing, and using assistive devices. In 1p36 microdeletion syndrome, fine-motor delay and sensory issues are common, so OT uses play-based tasks and adaptive tools to build hand skills and self-care independence. The purpose is to increase participation at home and school and reduce caregiver burden. The mechanism is activity-based training that improves hand–eye coordination, sensory processing, and problem-solving using graded challenges and environmental modifications.
4. Speech and language therapy
Speech and language therapy supports understanding and expression of language, speech clarity, and feeding–swallowing skills. Many children with 1p36 microdeletion have delayed or absent spoken language, so therapy may start with simple sounds, gestures, and picture systems. The purpose is to develop the best possible communication method, reduce frustration, and support safe swallowing. The mechanism is repetitive practice of sounds, words, and communication routines, sometimes combined with oral-motor exercises that strengthen lips, tongue, and jaw muscles.
5. Augmentative and alternative communication (AAC)
AAC includes picture boards, symbol-based apps, communication books, and electronic devices that “speak” for the child. For children with severe speech delay, AAC gives a way to express needs and choices even if verbal speech is limited. The purpose is to support language development, reduce behavior problems caused by communication frustration, and improve participation in school and family life. The mechanism is visual and symbol-based language that bypasses some speech motor difficulties, while still stimulating underlying language networks in the brain.
6. Behavioral and psychological therapy
Some children with 1p36 microdeletion syndrome have behavioral challenges, self-stimulatory behaviors, anxiety, or autistic-like features. Behavioral therapy and child psychology support help families understand triggers, set routines, and use reinforcement to encourage positive behaviors. The purpose is to reduce aggression, self-injury, or severe tantrums and improve emotional regulation. The mechanism is structured behavior plans, visual schedules, and stepwise desensitization that teach alternative coping skills and new, more adaptive behavior patterns.
7. Feeding and swallowing therapy
Feeding therapists (often speech or occupational therapists with extra training) work on sucking, chewing, swallowing, and safe textures. Children with 1p36 microdeletion syndrome may have poor suck, reflux, or aspiration risk, especially in infancy. The purpose is to ensure safe nutrition, reduce choking risk, and improve weight gain. The mechanism is gradual exposure to different textures, positional changes, pacing of feeds, and sometimes thickened liquids, all guided by swallow studies if needed.
8. Nutritional counseling
Dietitians assess calorie, protein, and micronutrient needs and adjust diet to support growth, especially when feeding is difficult or energy needs are higher due to seizures or heart disease. The purpose is to prevent under-nutrition, obesity, and micronutrient deficiencies. The mechanism is calculation of age- and weight-based energy needs, designing meal plans, texture modifications, and sometimes specialized formulas or enteral feeds for children who cannot meet needs orally.
9. Cardiac rehabilitation and monitoring programs
Because many children with 1p36 microdeletion have congenital heart defects or cardiomyopathy, structured cardiac follow-up and mild, supervised exercise programs are important. The purpose is to monitor heart function, adjust activity level, and detect early signs of heart failure. The mechanism is periodic echocardiograms, ECGs, and controlled exercise that can maintain cardiovascular health while staying within safe limits defined by the pediatric cardiologist.
10. Respiratory physiotherapy
If low muscle tone and scoliosis reduce lung expansion, or if recurrent chest infections occur, respiratory physiotherapy may be used. The purpose is to clear mucus, improve ventilation, and reduce pneumonia risk. The mechanism is breathing exercises, postural drainage, assisted coughing techniques, and sometimes devices for positive airway pressure, all tailored to the child’s abilities and heart status.
11. Vision therapy and low-vision support
Vision assessments identify squint, refractive error, or cortical visual impairment. Treatment may include glasses, patching, or visual stimulation activities. The purpose is to maximize usable vision and support learning, since many skills depend on seeing clearly. The mechanism is early correction of visual problems and structured visual activities that train the brain to interpret visual signals more effectively.
12. Hearing aids and auditory rehabilitation
Hearing loss is relatively common in 1p36 microdeletion syndrome, so children need early hearing tests and, when indicated, hearing aids or cochlear implants plus auditory therapy. The purpose is to provide clear sound input for speech and language development. The mechanism is amplification or direct stimulation of the auditory nerve, combined with training that helps the brain learn to interpret sounds and speech more accurately.
13. Seizure safety and caregiver training
Families are taught how to recognize seizures, what to do during an event, and when to seek emergency care. The purpose is to reduce injury, prevent drowning or falls, and reduce fear around seizures. The mechanism is practical education about positioning, timing, rescue medications prescribed by the neurologist, and safety adaptations at home, such as padding sharp edges and supervising bathing.
14. Orthotics, standing frames, and mobility aids
Orthotic devices such as ankle–foot orthoses, standing frames, and walkers help children with low tone or contractures stand and walk more safely. The purpose is to improve alignment, prevent deformity, and increase participation in play and school. The mechanism is external support that stabilizes weak joints, distributes weight better, and encourages more symmetrical movement patterns over time.
15. Sleep hygiene and behavioral sleep interventions
Sleep problems are common in children with neurodevelopmental disorders. Simple measures such as fixed bedtimes, calming routines, darkness, and limiting screens can help. The purpose is to improve sleep quality for both child and family, which also supports daytime behavior and learning. The mechanism is stabilization of circadian rhythm and reduction of arousal before bedtime using consistent routines and environment.
16. Psychological and social support for families
Parents and siblings often experience stress, grief, and burnout when caring for a child with complex needs. Counseling, peer support groups, and respite services help families cope. The purpose is to protect caregiver mental health and improve family functioning. The mechanism is emotional support, sharing of strategies, and planned respite to reduce chronic stress and improve resilience.
17. Genetic counseling for parents and relatives
Genetic counseling explains the cause of 1p36 microdeletion syndrome, recurrence risk, and reproductive options such as prenatal or preimplantation genetic diagnosis in future pregnancies. The purpose is informed decision-making and realistic expectations. The mechanism is step-by-step explanation of the chromosome deletion using family pedigree, genetic tests (karyotype, microarray), and written information, often involving clinical geneticists and counselors.
18. Educational support and individualized education plans (IEPs)
Children with 1p36 microdeletion syndrome usually need special education services, classroom accommodations, and sometimes one-to-one support. The purpose is to match teaching methods to cognitive level, communication style, and sensory needs. The mechanism is an IEP or similar plan that sets achievable goals and uses visual supports, simplified language, and extra time to help the child succeed academically and socially.
19. Multidisciplinary clinic follow-up
Regular visits to a multidisciplinary clinic (neurology, cardiology, genetics, therapy, dietetics) ensure that problems are detected and treated early. The purpose is coordinated care rather than fragmented, one-off visits. The mechanism is scheduled, team-based reviews where professionals share information, update treatment plans, and support the family in long-term planning.
20. Palliative and supportive care when needed
In severe cases with complex heart disease, uncontrolled seizures, or major feeding and breathing problems, palliative care teams may be involved. The purpose is not to “give up,” but to focus on comfort, symptom control, and family priorities. The mechanism is careful management of pain, breathlessness, and feeding issues, plus emotional and spiritual support, while still offering active treatments that match the family’s goals.
Drug Treatments
Remember: these medicines treat specific problems in 1p36 microdeletion syndrome (such as seizures or heart failure). They are not cures for the genetic deletion itself, and must only be prescribed and dosed by specialists following official prescribing information.
Below, “dosage and time” are described in very general terms (for example, “twice daily” or “slowly increased”). Exact mg/kg doses must follow the official label and your doctor’s instructions.
1. Levetiracetam (Keppra, Spritam and generics)
Levetiracetam is a modern antiepileptic drug often used as first-line therapy for focal and generalized seizures in children and adults, including those with structural brain disorders such as 1p36 microdeletion syndrome. It belongs to the class of “broad-spectrum antiepileptic drugs” and is usually given by mouth twice a day, with dosing based on weight and gradually increased to achieve seizure control. Its main purpose is to reduce seizure frequency and severity by binding to the SV2A protein in synaptic vesicles, which modulates neurotransmitter release and stabilizes neuronal firing. Common side effects can include sleepiness, irritability, behavior changes, and dizziness; rare but serious mood or psychiatric effects require careful monitoring.
2. Topiramate (Topamax and related products)
Topiramate is another broad-spectrum antiepileptic drug used as monotherapy or add-on therapy for partial seizures, primary generalized tonic-clonic seizures, and Lennox–Gastaut syndrome, conditions that can overlap with seizure patterns seen in 1p36 microdeletion syndrome. It is taken once or twice daily, starting at a very low dose and slowly increasing over weeks to reduce side effects. The purpose is seizure control and, in some older patients, migraine prevention. Mechanistically, topiramate blocks voltage-dependent sodium channels, enhances GABA activity, antagonizes AMPA/kainate receptors, and inhibits carbonic anhydrase. Side effects may include weight loss, tingling, cognitive slowing, kidney stones, and mood changes, so regular review is essential.
3. Valproate (valproic acid / divalproex preparations)
Valproate is a long-used antiepileptic drug effective for many seizure types, including generalized seizures and mixed seizure disorders that may occur in 1p36 microdeletion syndrome. It is usually given two or three times daily, with doses adjusted to body weight and blood levels. The purpose is to reduce seizure frequency by increasing GABA levels, modulating sodium and calcium channels, and stabilizing neuronal activity. Important side effects include weight gain, tremor, hair loss, liver toxicity, and blood problems; it is highly teratogenic, so its use in females of child-bearing potential requires strict precautions.
4. Lamotrigine
Lamotrigine is a newer antiepileptic that can be used for focal and generalized seizures, sometimes chosen when mood stabilization is also desired in older patients. It is started at a very low once-daily dose and slowly increased over weeks to reduce the risk of severe skin reactions. The purpose is seizure control by blocking voltage-gated sodium channels and reducing glutamate release. Side effects include rash (rarely serious), dizziness, headache, and nausea; any rash must be evaluated urgently.
5. Clobazam
Clobazam is a benzodiazepine-type antiepileptic often used as add-on therapy for difficult-to-control seizures. It is usually given one or two times per day, with gradual titration. The main purpose is to reduce seizure frequency by enhancing GABA-mediated inhibition in the brain. Side effects include drowsiness, drooling, behavior changes, and possible tolerance over time, so doses are kept as low as possible.
6. Diazepam / midazolam rescue medication
Rectal diazepam or buccal/intranasal midazolam is sometimes prescribed as a “rescue” medicine for prolonged seizures or seizure clusters. They are not daily preventives but emergency treatments, given once during a seizure according to a written plan. The purpose is to stop dangerous long seizures quickly and reduce the risk of status epilepticus. Mechanistically, they are benzodiazepines that rapidly enhance GABA signaling; side effects include sleepiness, unsteadiness, and, rarely, breathing suppression, so strict dosing and training are essential.
7. ACE inhibitors – for example, lisinopril
Children with 1p36 microdeletion syndrome and cardiomyopathy or certain congenital heart defects may receive ACE inhibitors such as lisinopril to help the heart pump more effectively. Lisinopril is usually given once daily, with dose adjusted by weight and blood pressure. The purpose is to reduce heart workload, improve cardiac output, and limit adverse remodeling by blocking the renin–angiotensin–aldosterone system. Side effects include low blood pressure, kidney function changes, high potassium, and cough; ACE inhibitors must be avoided in pregnancy due to fetal toxicity.
8. Beta-blockers – for example, carvedilol
Beta-blockers such as carvedilol may be used for cardiomyopathy or certain arrhythmias associated with 1p36 microdeletion syndrome. They are usually given twice daily, with slow dose increases. The purpose is to lower heart rate, decrease oxygen demand, and improve heart function over time. Mechanistically, carvedilol blocks beta-adrenergic receptors (and partly alpha-receptors), reducing harmful stress hormone effects on the heart. Side effects include low blood pressure, slow heart rate, fatigue, and cold hands and feet.
9. Loop diuretics – for example, furosemide
When cardiomyopathy or heart failure causes fluid overload and lung congestion, diuretics such as furosemide may be prescribed. Dosing is based on weight and given once to several times daily depending on severity. The purpose is to remove excess fluid, relieve breathlessness, and reduce heart workload. The mechanism is inhibition of sodium and chloride reabsorption in the kidney’s loop of Henle, increasing urine output. Side effects include dehydration, electrolyte imbalance (low potassium, sodium), and kidney function changes, so labs and weight are monitored closely.
10. Digoxin (in selected heart failure cases)
In some children with complex heart conditions, digoxin may be used to strengthen heart contractions and control certain arrhythmias. It is usually given once or twice daily, with dosing carefully calculated from weight, kidney function, and blood levels. The purpose is to improve cardiac output and control heart rate by inhibiting the Na⁺/K⁺-ATPase pump and increasing intracellular calcium in heart cells. Side effects include nausea, vomiting, appetite loss, and dangerous heart rhythm changes if levels are too high, so strict monitoring is essential.
11. Proton pump inhibitors (PPIs) – for example, omeprazole
Gastro-oesophageal reflux is common in children with hypotonia and feeding problems. PPIs like omeprazole are given once or twice daily before meals to reduce stomach acid. The purpose is to relieve heartburn, protect the oesophagus from acid damage, and reduce pain that can worsen feeding difficulty. Mechanistically, PPIs block the H⁺/K⁺-ATPase proton pump in gastric parietal cells, reducing acid secretion. Side effects may include headache, diarrhoea, and, with long-term use, possible changes in mineral absorption and infection risk.
12. H2-receptor antagonists – for example, famotidine
As an alternative or step-down from PPIs, H2 blockers such as famotidine may be used for milder reflux symptoms. They are usually taken once or twice daily. The purpose is to reduce gastric acid production by blocking histamine H2 receptors on stomach cells. Side effects are generally mild, including headache and gastrointestinal upset, but dosing must still be adjusted for age and kidney function.
13. Baclofen for spasticity
If a child develops spasticity or muscle stiffness in addition to hypotonia, baclofen may be used to relax muscles. It is given several times a day, starting at a low dose and slowly increasing. The purpose is to reduce muscle stiffness, pain, and contractures, making physiotherapy and daily care easier. Mechanistically, baclofen is a GABA-B receptor agonist that reduces excitatory neurotransmission in the spinal cord. Side effects include drowsiness, weakness, and, if stopped suddenly, withdrawal symptoms, so changes must be gradual.
14. Botulinum toxin injections for focal spasticity
When spasticity mainly affects a few muscle groups, botulinum toxin injections may be used. Treatment is repeated every few months, guided by a specialist. The purpose is to temporarily relax overactive muscles, allowing easier stretching, positioning, and functional use. Mechanistically, botulinum toxin blocks acetylcholine release at the neuromuscular junction. Side effects may include local weakness and, rarely, systemic spread; dosing and injection sites are carefully planned.
15. Melatonin for sleep regulation
Melatonin, a hormone involved in sleep–wake cycles, is often used in children with neurodevelopmental disorders who have difficulty falling asleep. It is usually given once in the evening before bedtime. The purpose is to improve sleep onset and sometimes sleep duration by supporting the body’s natural circadian rhythm. Side effects are generally mild, such as morning drowsiness or vivid dreams, but doses should still be supervised by a doctor.
16. Levothyroxine for hypothyroidism (if present)
If thyroid testing shows hypothyroidism, levothyroxine (synthetic T4) is used to replace missing hormone. It is taken once daily on an empty stomach, with dose adjusted to body weight and blood tests. The purpose is to support growth, brain development, and energy levels. Mechanistically, levothyroxine restores normal thyroid hormone levels, influencing metabolism and many organ systems. Side effects mainly occur with over- or under-replacement and include restlessness, rapid heartbeat, or tiredness.
17. Iron therapy for iron-deficiency anaemia
Some children with feeding difficulties may develop iron-deficiency anaemia. Oral iron supplements given once or twice daily with vitamin C help restore iron stores. The purpose is to improve haemoglobin, energy, and cognitive function. Mechanistically, iron is needed for haemoglobin and many enzymes; supplementation supports red blood cell production. Side effects include stomach upset, constipation, or dark stools; overdoses are dangerous, so storage safety is vital.
18. Vitamin D and calcium (when prescribed as medicines)
When significant deficiency or bone fragility is documented, vitamin D and calcium may be prescribed as medicinal doses rather than simple supplements. They are usually given once or twice daily, with regular monitoring. The purpose is to support bone mineralization, reduce fracture risk, and aid muscle function. Mechanistically, vitamin D increases calcium and phosphate absorption, and calcium provides the mineral substrate for bone. Excess dosing can cause high calcium levels and kidney stones, so medical supervision is required.
19. Antiemetics for severe reflux-related nausea
In selected cases with severe reflux-related nausea and poor feeding, short-term antiemetics may be used alongside acid suppression and feeding therapy. The purpose is to reduce vomiting episodes and allow gradual nutritional rehabilitation. Mechanistically, these drugs act on central or peripheral receptors involved in nausea pathways. Side effects depend on the specific drug and may include drowsiness or movement disorders; therefore, such medicines are used with caution and for limited periods.
20. Vaccines (routine and additional, counted here as critical “biologic drugs”)
Routine childhood vaccines, and sometimes extra vaccines such as pneumococcal and influenza vaccines, are especially important in children with heart or lung problems. They are given according to national schedules and special-risk recommendations. The purpose is to prevent serious infections that could cause hospitalizations or worsen heart and lung function. Mechanistically, vaccines expose the immune system to harmless antigens, building protective immunity. Side effects are usually mild (fever, soreness), and benefits greatly outweigh risks in medically fragile children.
Dietary Molecular Supplements
(Briefly, because of length, I’ll summarise each supplement’s role and mechanism. Exact dose must always be decided by the child’s doctor or dietitian.)
Omega-3 fatty acids (fish oil or algae oil) – Support brain and eye development, may modestly help behavior and inflammation. Mechanism: incorporation into neuronal cell membranes and modulation of inflammatory eicosanoids.
L-carnitine – Sometimes used when children take certain antiepileptics or have poor energy metabolism. It helps transport long-chain fatty acids into mitochondria for energy production, which may support muscle endurance and reduce fatigue.
Coenzyme Q10 (ubiquinone) – An antioxidant and electron carrier in mitochondria that may support heart and muscle energy in cardiomyopathy, though evidence is modest. Mechanism: improves electron transport chain function and reduces oxidative stress.
Multivitamin with trace elements – Ensures baseline intake of vitamins and minerals when diet is limited. Mechanism: supports numerous enzymatic reactions, immune function, and tissue repair.
Vitamin D3 – Critical for bone mineralization and immune function; mechanism as above, improving calcium absorption and bone strength.
Calcium (dietary or supplemental) – Supports bone growth in children with limited mobility or anticonvulsant use that affects bone health. Mechanism: provides mineral substrate for bone and neuromuscular function.
Probiotics – May help with constipation, diarrhoea, or antibiotic-associated gut issues. Mechanism: restore healthy gut microbiota, influence gut barrier and immune responses.
Medium-chain triglyceride (MCT) oil – Sometimes used in high-fat or ketogenic-style diets for epilepsy, because MCTs are easily absorbed and can increase ketone production. Mechanism: rapid hepatic metabolism to ketones, which may have an antiepileptic effect in some children.
Zinc – Used only when deficiency is documented, as it is important for immune function and wound healing. Mechanism: cofactor in many enzymes and transcription factors.
Selenium – In selected cases with proven deficiency, selenium supports antioxidant enzymes such as glutathione peroxidase, which may be relevant in cardiomyopathy and muscle function.
Immune-Boosting and Regenerative / Stem-Cell–Related Approaches
For 1p36 microdeletion syndrome, there are currently no approved stem-cell drugs that cure the chromosomal deletion. Any stem-cell or gene-modifying treatment is experimental and should only be accessed in ethically approved clinical trials.
Optimised vaccination and infection prevention – The most effective “immune booster” is keeping routine and extra vaccines up to date, combined with good hygiene and smoke-free environments.
Palivizumab (in high-risk infants as per guidelines) – A monoclonal antibody given during RSV season to some infants with significant heart or lung disease to prevent severe RSV infection; it is not specific to 1p36 but may be considered in similar risk profiles.
Intravenous immunoglobulin (IVIG) – In rare cases with documented immune deficiency or certain autoimmune complications, IVIG may be used to support or modulate immune responses, but this is not routine in 1p36 microdeletion.
Hematopoietic stem cell transplantation (HSCT) – HSCT is not a standard therapy for 1p36 microdeletion syndrome itself, but might be used if a child independently develops a severe blood or immune disorder where HSCT is the standard of care. It replaces diseased bone-marrow cells with donor stem cells.
Cardiac regenerative research – Experimental research is exploring stem-cell and gene-based therapies for cardiomyopathy, but for now, children with 1p36-related cardiomyopathy are treated with standard heart-failure medications and surgery when needed, not unproven stem-cell injections.
Balanced nutrition, sleep, and physical activity – These are practical, everyday “immune-supporting” measures, improving resilience to infection and overall health without risky unregulated products.
Surgeries and Procedures
Cardiac surgery for structural heart defects – Children with 1p36 microdeletion syndrome may have septal defects, valve problems, or left ventricular non-compaction requiring surgery. The procedure depends on the defect (for example, closure of a ventricular septal defect) and is done to improve oxygen circulation and prevent heart failure.
Gastrostomy tube (G-tube) placement – When oral feeding is unsafe or insufficient, surgeons place a feeding tube directly into the stomach through the abdominal wall. This is done to secure reliable nutrition, medications, and fluids, reduce aspiration risk, and improve growth.
Orthopaedic surgery for hip dysplasia or scoliosis – If conservative measures fail, surgery may be required to correct hip dislocation or severe spinal curvature. The aim is to improve sitting balance, reduce pain, and prevent further deformity.
Ear, nose, and throat (ENT) procedures and cochlear implants – Ventilation (grommet) tubes may be inserted for recurrent ear infections, and cochlear implants may be considered for severe hearing loss. These procedures are done to protect hearing and support speech and language development.
Neurosurgical procedures such as vagus nerve stimulation (VNS) – In cases of drug-resistant epilepsy, VNS or other epilepsy surgeries may be considered after detailed evaluation. The goal is to reduce seizure frequency and severity when medicines alone are not enough.
Prevention Strategies
Pre-conception and prenatal genetic counseling for families with a known 1p36 deletion.
Early diagnosis via genetic testing when developmental delay and typical features are noticed, allowing early intervention.
Regular cardiac screening to detect and treat heart problems before they cause severe symptoms.
Timely vaccination and infection prevention measures to reduce pneumonia, bronchiolitis, and other serious infections.
Early feeding assessments to prevent aspiration, failure to thrive, and severe reflux complications.
Regular vision and hearing checks to prevent avoidable sensory deprivation and support language development.
Routine dental care and oral hygiene to prevent dental disease, which can be challenging in children with feeding difficulties.
Physiotherapy and orthopaedic monitoring to prevent contractures and severe scoliosis.
Safety adaptations at home (seizure safety, fall prevention, water safety) to reduce injuries.
Regular mental-health support for the family to prevent caregiver burnout and breakdown of care.
When to See a Doctor
Caregivers should seek emergency help if a child with 1p36 microdeletion syndrome has breathing difficulty, blue lips, severe chest retractions, a seizure lasting longer than the rescue plan allows, repeated seizures without full recovery between them, new weakness on one side of the body, or sudden loss of consciousness. These may be signs of serious heart or brain problems and need urgent assessment.
They should arrange urgent (same-day) medical review if the child has rapid weight loss, feeding refusal, persistent vomiting, signs of heart failure (fast breathing at rest, sweating while feeding, swollen legs or abdomen), high fever that is not settling, or major changes in seizure pattern or behavior. Early review can prevent hospital admission and help adjust medicines or feeding plans.
Regular planned follow-up with neurology, cardiology, genetics, and therapists is recommended even when the child seems stable, because growth brings new challenges and treatment needs. Families should keep a written care plan and know exactly which hospital to attend in emergencies.
Diet: What to Eat and What to Avoid
Eat energy-dense, nutritious meals – Offer small, frequent meals rich in calories and protein (eggs, dairy, legumes, meat, fish) to support growth and tissue repair.
Use texture-modified foods when chewing or swallowing is difficult – Purees, mashed foods, and thickened liquids can reduce choking risk while still providing nutrients.
Include fruits, vegetables, and whole grains – These provide fibre, vitamins, and minerals important for immune function and gut health, helping prevent constipation common in low-mobility children.
Ensure adequate fluid intake – Sufficient water or appropriate fluids prevent dehydration and support circulation and digestion, especially in hot climates or during illness.
Limit very sugary drinks and ultra-processed snacks – Frequent sugary drinks and junk food can worsen weight issues, dental problems, and energy swings.
Avoid foods with high choking risk – Whole nuts, hard sweets, popcorn, and large raw carrot or apple pieces should be avoided or changed to safer forms (such as finely grated or cooked).
In reflux, avoid trigger foods if identified – Spicy, very fatty, acidic, or carbonated foods may worsen reflux in some children; a dietitian can guide trial modifications.
Follow specialist guidance for special diets (eg, ketogenic diet for epilepsy) – These diets should only be done under a neurology and dietetics team because they require precise calculation and monitoring.
Avoid unregulated “miracle” supplements or restrictive fad diets – These can cause serious nutrient deficiencies or interact with medicines, especially in children with complex conditions.
Regularly review growth charts with the care team – Diet should be adjusted based on weight, height, and body-mass trends to avoid both under-nutrition and obesity.
Frequently Asked Questions
1. Is there a cure for 1p36 microdeletion syndrome?
At present there is no way to replace the missing chromosome segment, so there is no cure. Treatment focuses on early therapies, careful monitoring, and tailored management of seizures, heart problems, feeding difficulties, and learning needs to maximise each child’s abilities and quality of life.
2. Can children with 1p36 microdeletion syndrome learn to walk and talk?
Many children do learn to sit, stand, and walk with time and physiotherapy, although the age of milestones is usually delayed. Speech outcomes vary; some children use short phrases, while others rely more on sign language or picture communication systems. Intensive early intervention and AAC support can make a big difference.
3. Are seizures always present in 1p36 microdeletion syndrome?
Seizures are common but not universal; about half of children are reported to have epilepsy. When seizures occur, antiepileptic drugs such as levetiracetam or topiramate, chosen by a neurologist, are often effective, although some children have difficult-to-control epilepsy requiring multiple drugs or procedures.
4. How serious are the heart problems?
Heart problems range from mild structural defects that improve over time to significant cardiomyopathy (including left-ventricular non-compaction) that needs long-term medication or surgery. Regular cardiology reviews are essential, because early treatment of heart failure can improve outcomes.
5. Will my next baby also have 1p36 microdeletion syndrome?
In many families, the deletion happens for the first time in the affected child and recurrence risk is low; in others, a parent may carry a balanced rearrangement or mosaic change. Genetic counseling and parental chromosome testing are needed to estimate recurrence risk and discuss options like prenatal or preimplantation genetic diagnosis.
6. What specialists should be involved in care?
Typical teams include a pediatrician, clinical geneticist, neurologist, cardiologist, dietitian, physiotherapist, occupational therapist, speech therapist, and sometimes orthopaedic surgeon, ENT specialist, ophthalmologist, and psychologist. Regular multidisciplinary review helps coordinate complex care.
7. Is school possible for children with 1p36 microdeletion syndrome?
Yes. Most children benefit from inclusive or special education settings with individualized education plans, communication support, and therapies built into the school day. With the right supports, many develop social relationships and meaningful functional skills.
8. Can lifestyle changes alone control seizures or heart disease?
Lifestyle measures like good sleep, avoiding missed doses of medicines, and preventing infections are very important, but they do not replace antiepileptic or heart-failure medications when these are needed. Treatment plans usually combine medicine, therapy, and healthy routines.
9. Are stem-cell clinics offering a real treatment for 1p36 microdeletion?
Currently, no stem-cell or gene therapy has been proven safe and effective for 1p36 microdeletion syndrome in large trials. Commercial “stem-cell cures” outside regulated research are often unproven and risky. Families should discuss any trial only with their specialist team and check that it is approved by reputable ethics and regulatory bodies.
10. How often should my child have heart and brain tests?
Frequency depends on the child’s specific findings. Usually, echocardiograms and ECGs are repeated at intervals decided by the cardiologist, and brain imaging is done when seizures or other neurological signs change. Your team will set an individualized schedule.
11. Can diet significantly change the course of the syndrome?
Diet cannot change the underlying chromosome deletion, but good nutrition can improve growth, strength, and immune function, and special diets such as ketogenic diets may help some children’s seizures when supervised by specialists. Malnutrition or extreme fad diets can make outcomes worse.
12. What is the long-term outlook (prognosis)?
Prognosis varies widely and depends on the severity of heart disease, seizure control, feeding difficulties, and associated anomalies. Some individuals achieve basic independence in daily living with support, while others remain highly dependent. Regular medical care and early interventions can improve quality of life and survival.
13. Does 1p36 microdeletion syndrome get worse over time?
The genetic deletion is present from birth and does not spread, but health problems such as scoliosis, contractures, or heart failure can develop or progress with growth if not monitored. On the positive side, many children continue to learn skills and become more interactive over time.
14. Are there international support groups?
Yes. Parent support organisations and online groups dedicated to 1p36 deletion syndrome share experience, resources, and practical tips, and can help families feel less isolated. Clinicians often recommend reputable national or international groups rather than informal social media pages.
15. What should families remember most about treatment?
The most important message is that treatment is individualized and comprehensive: early and ongoing therapies, evidence-based medicines for seizures and heart disease, careful nutrition, regular monitoring, and strong family support all work together. There is no single magic drug, but a coordinated plan can significantly improve comfort, participation, and quality of life for many children with 1p36 microdeletion syndrome.
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 16, 2026.
