Glossary A - Z
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Autism spectrum disorder
Autism spectrum disorder (ASD) is a neurodevelopmental disorder. People with ASD can have difficulty understanding non-verbal signals and have difficulties in social interactions. They often show repetitive patterns of behaviour and special interests. Specialised therapies can improve quality of life. People with KCNQ2 can also show autistic characteristics. Autism is not a disease, but a different way of experiencing the world.
Assistive devices
There are a variety of aids that can be used to support people in need of care in their everyday lives: Care beds, wheelchairs, walking aids, bath lifts, communication aids. Advice from specialists can help you choose the right aids. As a rule, applications are made to the relevant care insurance fund, health insurance fund or social welfare authority. It is important to find out about applying for aids at an early stage and to seek support from advice centers.
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Become a supporting member of KCNQ2 e.V.
We warmly invite everyone to become a supporting member of KCNQ2 e.V. and to shape the future of our children and families together. You can find the application form here: Become a supporting member – KCNQ2. We look forward to welcoming you!
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Caring relatives
The majority of children with KCNQ2 gene defects are cared for by their parents or one of their parents. The demands are very high, both physically and mentally/emotionally. In addition, work, care and family (including other siblings) must be reconciled. A stable social environment and an individual support system help to expand the scope and counteract excessive demands.
As many parents cut back on their jobs to care for their disabled children, care insurance pays pension contributions for family carergivers.
Childcare center
Of course, KCNQ2 children should also attend daycare centers. This is actually very meaningful and important. They get lots of new stimuli there and learn from the other children. Integrative kindergartens offer special care places and support opportunities. After a preliminary assessment, the best possible place is found for the child. Integrative assistants can ensure a more relaxed and adapted process according to the child’s needs.
Children’s hospice
A children’s hospice is a facility that cares for children with life-shortening illnesses and their families. The families are offered support, relief and medical care. In addition, the children’s hospice also offers psychosocial support for the whole family to help them through this difficult time. It gives families the opportunity to spend time together and create memories.
Chromosome
KCNQ2 is a gene that is located on the 20th chromosome of our DNA. Chromosomes are located in the nucleus of human cells and carry genetic information. Each chromosome has a long (q) and a short arm (p). Each chromosome is further subdivided into many numbered bands. The numbered bands indicate the position of the thousands of genes on each chromosome.
Conversion
Depending on the severity of the disability, it may be necessary to make minor or major adaptations to the house/apartment. Sometimes a railing or a ramp may be enough to get into the house, sometimes complex modifications are necessary. A one-off application for €4000 can be made via the health insurance fund. There are also occasional time windows in which the KFW subsidy for handicapped-accessible conversions can be applied for. Advice can be obtained from architects, banks and social counseling services.
Counselling
The diagnosis and symptoms of KCNQ2 are a cause for concern. It turns the lives of families upside down. To provide support, support and help, there are many organisations and associations that look after families with seriously ill children.
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De novo mutation
This is a newly created mutation in a genome that was not inherited from a parent.
Developmental disorder
Most children with KCNQ2 gene defects show developmental disorders in one or more areas, e.g. motor, social, cognitive and verbal. The disorders can range from mild to severe. Each child develops differently and at their own pace. Early supportive therapies such as physiotherapy, occupational therapy and speech therapy can help to minimise the disorders.
Diaper care
From around 3.5/4 years of age, a permanent prescription for incontinence care can be issued by the pediatrician. Children have now reached an age at which children without disabilities have learned to control their excretions. Depending on the health insurance company, the permanent prescription can be submitted to the medical supply store, for example.
Diet
A special diet can help in the treatment of epilepsy, especially the ketogenic diet. This diet is high in fats and low in carbohydrates, which causes the body to produce ketone bodies that serve as an alternative source of energy. Studies have shown that this diet can reduce the frequency of seizures in some patients, particularly in children who do not respond to conventional medication. However, it is important to start the diet under medical supervision as it requires strict guidelines and may have potential side effects. A balanced nutrient intake and regular check-ups are crucial to ensure health during the diet.
Disability
The term disability refers to a restriction that impairs the child’s physical, mental or emotional abilities. The severity and extent of disabilities caused by the KCNQ2 gene defect can vary depending on the individual course of the disease. Affected children usually require medical care, early intervention and supportive therapies to maximise their development. There are laws and programmes in place to protect the rights of people with disabilities and provide them with equal opportunities and access to education, healthcare and other important resources.
Disability will
A disabled person’s will is a will drawn up specifically for people with disabilities. In such a will, special provisions can be made to ensure that the needs and interests of the disabled heir are adequately taken into account. A disabled person’s will is intended to ensure that the disabled heir receives appropriate care and support even after the death of the testator.
Doctor’s appointments
KCNQ2 children usually have many doctor’s appointments on the programme. This can be challenging as they often require more time and patience. It may help to take someone with you for support. Clear communication with the doctors is crucial to ensure the best possible care for the children. A list with key points and questions for the consultations helps to keep an overview and not forget anything. It can also be helpful to plan appointments in advance to minimise waiting times and prepare the child for the visit.
Donations
The KCNQ2 e.V. is a non-profit organization and relies on donations and contributions. We are happy about every donation, which then benefits our families and research. Here https://kcnq2.de/spenden/ you can find the donation details.
Dysphagia
Many children have a swallowing disorder, which can take different forms. In some cases, food has to be pureed and liquids thickened so that children can eat and drink without choking. In some children, the swallowing disorder is so severe that they have to be fed via a tube. In most cases, children are recommended speech therapy.
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Early intervention
Early intervention can help to optimally support the development of children with disabilities and promote their abilities. This can be done through targeted therapeutic measures. It is important that early intervention starts early in order to provide children with the best possible support. It serves to strengthen motor, cognitive, language and social skills.
EEG
The electroencephalogram (EEG) is a diagnostic procedure used to record the electrical activity of the brain. Electrodes are placed on the scalp to measure the electrical signals of brain activity. The EEG is often used to diagnose and monitor epilepsy and other neurological disorders. The results of the EEG are presented in the form of wave patterns that are interpreted by neurologists.
Emergency call
It can happen that a special situation requires a call to the emergency. In the case of KCNQ2 children, this is usually a severe epileptic seizure. As soon as the parents and/or caregivers are unsure, the recommendation is to call the emergency services. Medical monitoring of the child is also important after the emergency medication has been administered. Please do not be afraid to call for help.
Epilepsy
Epilepsy is a neurological disorder characterised by recurrent seizures. These seizures can take different forms, from brief absences to severe seizures. Epilepsy can occur at any age and has many different causes, including genetic defects, brain injuries, infections or metabolic disorders. Epilepsy is one of the main features of the KCNQ2 gene defect. It is important that patients are regularly monitored by a neurologist to control their symptoms. It can resolve within months or years. However, some patients require medication for the rest of their lives.
Everyday life
Everyday life with an impaired child can present a variety of challenges. Parents and family members often have to find extra time and resources to fulfil their child’s needs. This can include organising therapies, visits to the doctor, special care, medical decisions or even bureaucratic hurdles. It is important that parents also receive support and relief and take time out from time to time. Despite all the challenges, everyday life with children with disabilities has many wonderful moments. There is joy in every step forward and happiness is found in the smallest things.
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You also find the KCNQ2 association on Facebook under the following link KCNQ2 e.V. | Facebook
Food
Eating and drinking is a difficult topic for many KCNQ2 children and their families. Chewing and swallowing disorders make daily food intake difficult. Some children can chew and eat regularly, some only like porridge, some are tube-fed. Here too, every child develops differently. It is important not to lose patience and to seek help from doctors and therapists if necessary. Providing food on the go also requires good planning and preparation.
Future
Our children are little surprise packages – no one can say until when or what they will achieve and accomplish. The KCNQ2 gene defect is rare and as each child also has a different variant of the gene defect, it is not possible to make comparisons between children or make predictions.
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Gain-of-function
Gain-of-function mutations in the KCNQ2 gene can lead to increased activity of the KCNQ2 protein, which is responsible for regulating the electrical activity of nerve cells. Increased activity of the KCNQ2 channel can lead to altered function of nerve cells, which can have an impact on electrical signal transmission in the brain. This mutation can lead to seizures, developmental delays and other neurological problems.
Genetic defect
A genetic defect is a change or mutation in the DNA that leads to a disorder or malfunction of the gene. If a genetic defect is present, the affected gene can either not produce a protein at all or produce it incorrectly, which can lead to health problems.
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Health cure
A cure with impaired children can be an important way of giving both the children and their parents time out and relaxation. During the cure, the children receive special therapeutic measures that are tailored to their individual needs. This can include physiotherapy, occupational therapy or speech therapy, for example. At the same time, parents have the opportunity to relax and recharge their batteries.
Human genetic testing
Human genetic testing refers to the analysis of genetic material to identify genetic variants, mutations or chromosomal abnormalities. These tests help to identify the genetic causes of diseases, assess the risk of certain genetic diseases and investigate the inheritance of genetic variants within families.
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Integrative Helpers
Integrative helpers support people with special needs. These can be people with disabilities, with a migration background or with mental illness. They work in various areas, such as kindergartens, schools and social institutions. They help to break down barriers and offer guidance and support. They help to promote the integration of people with special needs into society.
Improvisation
With a disabled child, improvisation is necessary in some situations. You always have to face new challenges and adapt to unexpected situations. This calls for creativity and flexibility. It is important not to become dependent on fixed plans and expectations. It requires a certain composure and acceptance. But it is also a source of creative solutions and an enriching experience.
Incontinence
Some KCNQ2 children may also have bladder and bowel problems. As the KCNQ2 gene plays a role in the regulation of neuronal activity, mutations in this gene can affect the normal function of the nervous system, which can have an impact on bladder and bowel control.
Independence
Here too, there is a broad spectrum of how independent KCNQ2 children can become. From light support in everyday life to taking over the complete care and all everyday activities. Some children require support at an intensive care level.
Infections
Every child will have to go through several infections in the first few years of life. Each child is differently susceptible. Children with KCNQ2 and epilepsy may require special observation and consultation with doctors during infections, especially if they have a fever.
You can also find the KCNQ2 association on Instagram: kcnq2_e_v
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Integrative place
In general, it is a place or position intended for the integration of people with special needs into a particular environment or community. It can be a place in an inclusive daycare center or school. It enables children with disabilities or developmental delays to learn and play together with other children. The integrative place must be applied for in advance from the city/district. There is also a preliminary examination and assessment.
Intensive care unit
In most cases, newborn KCNQ2 children require intensive medical care. Seizures occur within the first few days after birth. Medication is administered in an attempt to reduce the seizures and initial examinations are arranged.
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KCNQ2
KCNQ2 is a gene that codes for the production of a protein that ‘appears’ in the nerve cells of the brain and heart. Mutations in this gene can lead to various disorders, including KCNQ2 encephalopathy syndrome.
KCNQ2 variant
The individual variant of the genetic defect is described in the report from the Human Genetics Institute. The combination of letters and numbers indicates where the mutation is located on the gene. Sometimes children have the same variant. But even then, they can develop completely differently.
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Level of care
The care level indicates how independent a person is. The (cash) benefits paid by the care insurance fund are also based on this. This is based on reports from the medical service and later regular appointments for care advice (e.g. via an outpatient child care service). The application for a care degree is submitted to the health insurance company.
Life expectancy
There are no direct studies or data establishing a direct link between the KCNQ2 mutation and life expectancy. The impact on life expectancy may vary from patient to patient, depending on the specific type of mutation, severity of symptoms and response to treatment.
Long-term care insurance
The long-term care insurance funds are affiliated to the normal health insurance funds and are responsible for everything to do with long-term care. This is where, for example, applications are made for aids or the settlement of preventive care.
Loss-of-function
Loss-of-function means that the normal function of the potassium channels is impaired or fails completely. Potassium channels are responsible for regulating the flow of potassium ions in and out of nerve cells. If the function of these channels is impaired, this can lead to a reduced ability of the cell to regulate electrical signals. The potassium ions can no longer be transported effectively.
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Main features of the KCNQ2 gene defect
The main characteristics are the following symptoms: seizures, developmental delays or disorders (motor, cognitive, speech), movement disorders (hypotonia, spasticity). There are other characteristics, but these vary from child to child.
Making fun
Life with the KCNQ2 gene defect is not all worries and fears. On the contrary: you learn how intense and wonderful the time with a KCNQ2 child is. And making nonsense is absolutely part of it. Having fun together and getting up to mischief is great and generates a lot of positive energy. What child doesn’t love that? And many of them can show their joy and laugh so heart-warmingly.
Medication
There are various medications that can be used to treat KCNQ2-associated disorders. These include antiepileptic drugs, benzodiazepines and sodium channel blockers. However, treatment must be tailored to the individual patient, as the effectiveness of the medication can vary depending on the specific mutations and symptoms. It is important that the medication is taken regularly and at certain intervals. It is also essential to carry emergency medication with you when traveling.
Membership (active)
We would be delighted if you would join KCNQ2 e.V. as an active member and help shape the life of the association! Be part of it! We warmly welcome you! Contact us at info@kcnq2.de
MRI
Magnetic resonance imaging (MRI) is a procedure that produces high-resolution cross-sectional images of the body without using ionizing radiation. Instead, MRI uses strong magnetic fields and radio waves to create detailed images. It is often used to diagnose and monitor diseases of the brain, spine and joints. It can also be used to assess soft tissue injuries, tumors and vascular diseases.
Muscular hypotension
Muscular hypotonia is low muscle tone or low tension in the muscles. This can cause the muscles to be flaccid and make it difficult to maintain an upright posture or perform movements. Treatment can vary depending on the cause and severity and can include various therapies, aids and supportive measures.
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Networking KCNQ2
Exchange is important! Not only because you no longer feel so alone, but also because you don’t have to constantly reinvent the wheel. Other families often have similar challenges – you get great suggestions for how to proceed, tips on resources, good arguments in the event of contradictions, positive experiences, etc. Here with us you will find both individual consultations and opportunities to exchange ideas with other parents. The KCNQ2 e.V. association is also networked with other associations and organizations throughout Europe and worldwide. This also enables the exchange of research, studies and experiences across national borders.
Neuropaediatric
Neurology is the science of the nervous system and the associated diseases and treatments. Neuropaediatric is the specialist field that deals with disorders of the nervous system in children and the associated physical and mental developments.
Newsletter
The newsletter of KCNQ2 e.V. regularly informs all interested parties or those affected about news in the context of KCNQ2. Whether events such as parent meetings, fundraising campaigns or the results of studies – click here to register: https://kcnq2.de/anmeldeformular-newsletter/
Non-verbal behavior
A typical symptom of the KCNQ2 gene defect is language development disorder. Some children cannot communicate at all using language, i.e. spoken words. It is a great challenge to manage without language (from the child’s side) and still know what the child needs, feels or wants to express. Many families find their own individual way of communicating using signs, gestures, facial expressions or aids such as talkers, picture cards or apps. Help can be found at advice centers for augmentative and alternative communication (AAC).
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Objection
Unfortunately, urgently needed aids are often rejected first. However, it is worth making an objection and explaining why this is needed after all. Personal letters, pictures or letters from treating therapists and doctors and attaching them to the objection can be helpful.
Orthoses and shoes
Many children need orthoses due to their weak muscle tone. Orthoses are orthopedic aids that stabilize and relieve joints, muscles or bones and keep them in the correct position. Orthoses are available for various parts of the body, such as the feet/ankles. These are custom-made by an orthopedic technician and paid for by the health insurance company on presentation of a prescription (from the paediatrician). If normal shoes do not fit, orthotic shoes are also available.
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Palliative care
Sometimes the manifestations of the characteristics are so severe or additional illnesses are added that the child has a life-limiting path ahead of it or it is no longer compatible with life and the child dies. Palliative medicine deals with the treatment of seriously ill patients whose illness is no longer curable. This highly emotional time before, during and after death can be accompanied by a palliative care team. They are an important support for the family in medical matters and in providing psycho-emotional support. The focus is on holistic care. Treatment can take place on an inpatient or outpatient basis.
Permanent stress
The constant stress of living with impaired children (with epilepsy) can be a major challenge for the children and their families. The constant worry about possible seizures, everyday life and coping with emotional stress can lead to ongoing stress. It is important to get support as a family to deal with the psychological, emotional and social impact of the condition. Regular medical care, psychosocial support and time out help to prevent the stress from taking over.
Physiotherapy
Physiotherapy is essential for most children with KCNQ2 gene defects and often starts when they are just a few weeks or months old. Active and passive techniques are used to improve the body’s ability to move and function. This involves strengthening the muscles and training certain movement sequences, e.g. sitting, standing up or walking independently. Great results can be achieved through regular training in therapy and at home.
Potassium channel
Potassium channels are proteins that occur in cell membranes and regulate the permeability for potassium ions. These channels play a crucial role in the conduction of excitation in nerve cells and the regulation of membrane potential in many cell types. By opening and closing the potassium channels, potassium ions can flow from the inside of the cell to the outside or vice versa, which influences the electrical activity of the cell. Disturbances in the function of potassium channels can lead to various diseases such as neurological disorders, cardiac arrhythmias and muscle diseases.
Prescriptions
Prescriptions are required for aids, medication and therapies. For incontinence care from the age of 3 to 4 or physiotherapy, for example, there is also the option of a permanent prescription. The necessary prescriptions can be obtained from the treating pediatrician or neuropaediatrician or at the SPC. Sometimes permanent prescriptions can be issued so that you don’t have to worry about getting new ones every few days.
Preventive care (substitute care)
Depending on the child’s level of care, parents are entitled to a certain amount of money to look after the child while they are unable to do so themselves. The money can be used for an unrelated person. Reasons for absence include illness, visits to the doctor, shopping, sport or a short break to take a deep breath.
Psychological counseling
The diagnosis of the KCNQ2 gene defect is initially a shock for many parents. Life is turned upside down and you have to reorganize yourself and overcome numerous challenges. If it all gets too much, psychological counseling centers can provide help to bring order to the chaos of the head and heart.
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Rare diseases
A disease is said to be rare if fewer than 5 in 10,000 people are affected by a particular disease. There are around 7000 rare diseases worldwide. Due to ever newer and more modern research possibilities, further diseases are added every year. In Germany, around 4 million people live with a rare disease. 80% of rare diseases are genetic. 70% show first symptoms in (early) childhood. The zebra is the common symbol for rare diseases.
Rehab
There are various “intensive therapies” that can support the child with developmental steps, e.g. “on your feet” (UniReha Cologne), Swimlab (Swimlab international), etc. There are also special clinics for mother-child cures or family cures to recharge your batteries. A stay in a rehabilitation clinic is applied for and requested via the health insurance company.
Rehab buggy
Rehab buggies are baby carriages for children with special needs right through to adulthood. They can be individually configured, e.g. with additional pads and straps. When applying for a rehab buggy, it is important to check whether you only need a rehab buggy or whether the child needs more support when sitting. A special rehab buggy/special care wheelchair may then be necessary.
Respite services
Respite services are additional support services for people in need of care and their relatives. All people in need of care in care grades 1-5 are entitled to respite services for outpatient care if they are cared for at home. The relief amount can be used, for example, for help in the household, for care companions, for day and night care and for short-term care.
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School for children with special needs
This is a specialized school designed to meet the needs of students with special educational and/or physical needs. Special schools offer adapted curricula and teaching methods to help students with various forms of disabilities or developmental delays. Special schools usually offer a variety of therapeutic services, such as speech therapy, physiotherapy and psychological support.
Scientific research
Research on KCNQ2 is focused on understanding the exact role of the gene in the development of epilepsy and other neurological disorders. The scientists are investigating the effects of mutations in this gene on the function of the potassium channel and the electrical activity of nerve cells. The aim is to develop better treatment approaches and therapies for patients with KCNQ2 mutations.
Sensory integration
Sensory integration enables us to perceive, understand and respond appropriately to our environment. It is a process in which the brain processes information from the various sensory organs to enable an appropriate response to stimuli.
People with sensory integration disorder have difficulty processing stimuli, which leads to problems in perception, communication and social interaction. Sensory integration therapy aims to improve sensory processing and increase quality of life. The main therapy is occupational therapy. It is based on targeted stimulation or the targeted provision of stimuli, e.g. through riding therapy.
Sign language
Sign language is a visual language. It is based on a combination of hand gestures, body posture, facial expressions and mouth movements. Sign languages are languages in their own right and have regional and cultural variations. For KCNQ2 children who cannot or cannot yet speak, it can help them to express themselves, exchange information and build social relationships. There are simplified hand signs for children.
Sign-supported communication
Sign-supported communication is a method used to support the communication of people with speech or communication disorders. Signs, gestures, facial expressions, pictures or other visual aids are used. The use of communication devices or apps also helps people with limited communication skills to express themselves.
Spasticity (spasm)
This is excessive tension in the muscles caused by damage to the central nervous system. This tension in the muscles forces the extremities into dysfunctional patterns of action. This means that the muscle contracts too much. The contraction/spasm of the muscles cannot be controlled. In the long term, spasticity can lead to painful joint misalignments. Special therapies can help to alleviate the pain and improve the symptoms.
SPC
Social pediatric centers accompany families with neurologically or otherwise developmentally impaired children into adulthood. The neuropaediatrician examines the developmental status and supports the families – they listen to the family’s questions and concerns. They support the families in determining the appropriate therapies, write the prescriptions for aids and support them with professional reasons in the event of contradictions. At regular follow-up appointments, the child is examined holistically and appropriate therapists are consulted for co-assessment.
Psychological support is also offered there.
Speech
KCNQ2 children are affected by language disorders in different ways. The spectrum ranges from slight delays to not acquiring verbal language. For non-verbal children, AAC offers various ways of communicating (talkers, gestures, picture cards, etc.).
Speech therapy
Speech therapy deals with the diagnosis, treatment and prevention of speech, language, voice and swallowing disorders. The therapy includes articulation exercises, breathing and voice therapy, swallowing exercises and the use of communication aids. As KCNQ2 children usually speak late or not at all and often have difficulty swallowing, speech therapy can be helpful. This is prescribed by the treating doctor.
Standing device/standing trainer
Children who are unable to stand independently due to their hypotonic muscle tone and/or developmental disorder can be taught to stand with the help of various standing devices. The standing position is important for the cardiovascular system, digestion and skeletal development in the leg and hip area. Each child is individually assessed to see which piece of equipment is suitable for them.
Stereotypies
Recurring, identical movement sequences and patterns or actions that cannot be influenced. They can be used for self-regulation/calming down in stressful situations or “just happen”.
Stress/strain
Every family, especially families with a disabled child, know the various stresses and strains that everyday life with a KCNQ2 gene defect entails. The resulting stresses (psychological and physical) are very subjective and also depend on how you can cope with them. Sometimes it helps to realise which resources can reduce the subjective stress (e.g. support from the social environment, sport or relaxation, development of everyday structures or use of aids).
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Talker
The Talker is an AAC aid that enables the child to communicate with the environment.
Therapeutic education
Curative education focuses on the promotion and support of people with special needs. The aim of curative education is to support people with physical, mental, emotional or social impairments and to promote their participation in social life. Special needs teachers work in schools, kindergartens, institutions for the disabled and early intervention centers. They work closely with therapists, doctors, social workers and parents.
Therapy chair
The chair is the most important aid for everyday life at home for children who cannot sit independently. It is a high-tech chair in which the child can sit with good guidance. Depending on the need for support, an anatomically shaped seat cushion, various pads, individual straps, seat pants, abduction wedge, etc. are made. This support helps the child to sit safely – without having to exert force or effort. This gives the child free resources for playing and learning.
Therapies (additional therapies)
Every child is individual. For this reason, we consider which therapies can support each child’s development. Therapies can be (examples)
- Physiotherapy
- Medical vibration training (Galileo training)
- Speech therapy
- Curative early intervention
- Early visual support
- Therapeutic riding
- Sensory integration therapy
- Occupational therapy
- Music therapy
- Trauma therapy
- Swimming therapy
- Neuromotor development support
Time
With children with disabilities, life is usually very tightly scheduled. Fixed medication times, fixed meal times, therapies, examinations, etc. However, these constant structures also help to bring regularity and security into everyday life for the child and family. Once you have got used to the new rhythm, there is plenty of time for enjoyable experiences in the individual time slots between duties.
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Vacation
Vacations with children with disabilities are “differently beautiful”. Depending on the severity of the disability and the age of the child, a lot of luggage is involved. But basically, everything is possible, from air travel to camping. It is best to discuss this with the treating doctors before the first vacation. In the case of active epilepsy, it is helpful if there is a children’s clinic with neuropaediatrics nearby.
Vitamins
Some epilepsy medications are “vitamin robbers”. Adapting the diet to the child’s needs can also occasionally lead to an insufficient intake of certain vitamins or nutrients. It is best to discuss this with the paediatrician or neuropaediatrician, check and administer additional medication if necessary.
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Walking/Learning to walk
Due to muscular hypotonia (reduced muscle tone), a KCNQ2 child’s ability to learn to walk may be impaired. Physiotherapy plays an important role in treatment. Orthopaedical aids such as orthoses or standing trainers can also support learning.
Warning devices
Depending on the severity of the genetic defect and the epilepsy, monitoring devices for the night, such as a pulse oximeter, are helpful in order to detect seizures in the child at any time and to be able to act if necessary. Pulse oximeters are prescribed by the treating doctor or neuropaediatrician and are provided and maintained by medical technology service companies. There are other monitoring systems on the market: Nightwatch, Epi-care, bed sensors, etc.
Weckhuysen, Sarah (Prof. Dr.)
Prof. Sarah Weckhuysen is one of Europe’s leading researchers into new genes and genetic mechanisms involved in epilepsy. She is a neurologist and professor at the University of Antwerp (Belgium). The association KCNQ2 e.V. regularly supports her work with donations. She has already given talks at parents’ meetings and reports on the status of research, new studies and medication.
Wheelchair
The wheelchair is an important aid for everyday life outside the home. It is smaller and more maneuverable than a rehab buggy or a special rehab buggy and therefore makes visits to the doctor, shopping or excursions easier. It can be used as a therapy chair when out and about, with friends or in restaurants.