SYNGAP Elternhilfe e.V.
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Description of patient organisation
As a parent support group and patient organisation, we are committed to helping families with children and adults who have a SYNGAP1 gene mutation, the SYNGAP1 syndrome.
Our work focuses on three areas.
Awareness / public relations to raise the profile of SYNGAP1 and help more patients to be diagnosed early. We also have a diagnosis group for children with developmental disabilities - Towards Diagnosis.
Patient work, where we mainly offer exchange of experiences and counselling. Workshops for parents are also planned. Internationally, we are in exchange with other Syngap patient organisations through the Syngap Global Network and can also provide contacts here.
Research is important to us to better understand SYNGAP1 syndrome and so that one day there will be more targeted effective therapies for our children. We support researchers in their projects and also get actively involved. International networking through the SYNGAP Global Network is the key to success.
SYNGAP1 syndrome, or SYNGAP1 dependent developmental epileptic encephalopathy, involves three main features:
Developmental disorder: The children usually reach developmental milestones late. In some cases, they do not reach them at all. Most children have an intellectual disability. In rare cases, it is just a learning disability. Motor skills are also delayed. Most Syngap children eventually learn to walk. Their gait then often appears wide-legged or reminiscent of a penguin. Fine motor skills are also often limited. In order to learn things that other children take for granted, they often need step-by-step training with hand guidance.
Epilepsy: More about 90% of Syngap children have epilepsy or a conspicuous EEG. However, the seizures are not always immediately recognisable. They often start between the 2nd and 3rd year of life. They are usually short seizures of a few seconds, such as (atypical) absences, myoclonic-astatic epilepsy, eyelid myoclonia and falling seizures. These manifest as brief pauses, fluttering of the eyelids, rolling of the eyes upwards, and/or brief loss of muscle tone. As triggers, parents describe things like fatigue, stress, sensory stimuli (such as touch, sound or light). A special feature of SYNGAP1 is so-called eating epilepsy, i.e. seizures triggered by eating. This has been found in at least 25% of the children. Not all Syngap children have this symptom. But there are probably many more, as the seizures could also be interpreted as tiredness or indulgent eating. If this form of epilepsy is observed in a child, it is important to test for a SYNGAP1 mutation using genetic testing.
Autism: About 50% of syngap children have a SYNGAP1 diagnosis. Since autism diagnosis is difficult in non-speaking people with intellectual disabilities, the percentage will actually be higher here as well. Most syngap children cannot speak or can speak only a little. Therefore, they urgently need appropriate aids for AAC such as a talker and accordingly also a speech therapy experienced with it. Syngap1 children often show challenging behaviour. They often have typical obsessions such as water, music, lifts, escalators, fans or driving in any form.
Our work focuses on three areas.
Awareness / public relations to raise the profile of SYNGAP1 and help more patients to be diagnosed early. We also have a diagnosis group for children with developmental disabilities - Towards Diagnosis.
Patient work, where we mainly offer exchange of experiences and counselling. Workshops for parents are also planned. Internationally, we are in exchange with other Syngap patient organisations through the Syngap Global Network and can also provide contacts here.
Research is important to us to better understand SYNGAP1 syndrome and so that one day there will be more targeted effective therapies for our children. We support researchers in their projects and also get actively involved. International networking through the SYNGAP Global Network is the key to success.
SYNGAP1 syndrome, or SYNGAP1 dependent developmental epileptic encephalopathy, involves three main features:
Developmental disorder: The children usually reach developmental milestones late. In some cases, they do not reach them at all. Most children have an intellectual disability. In rare cases, it is just a learning disability. Motor skills are also delayed. Most Syngap children eventually learn to walk. Their gait then often appears wide-legged or reminiscent of a penguin. Fine motor skills are also often limited. In order to learn things that other children take for granted, they often need step-by-step training with hand guidance.
Epilepsy: More about 90% of Syngap children have epilepsy or a conspicuous EEG. However, the seizures are not always immediately recognisable. They often start between the 2nd and 3rd year of life. They are usually short seizures of a few seconds, such as (atypical) absences, myoclonic-astatic epilepsy, eyelid myoclonia and falling seizures. These manifest as brief pauses, fluttering of the eyelids, rolling of the eyes upwards, and/or brief loss of muscle tone. As triggers, parents describe things like fatigue, stress, sensory stimuli (such as touch, sound or light). A special feature of SYNGAP1 is so-called eating epilepsy, i.e. seizures triggered by eating. This has been found in at least 25% of the children. Not all Syngap children have this symptom. But there are probably many more, as the seizures could also be interpreted as tiredness or indulgent eating. If this form of epilepsy is observed in a child, it is important to test for a SYNGAP1 mutation using genetic testing.
Autism: About 50% of syngap children have a SYNGAP1 diagnosis. Since autism diagnosis is difficult in non-speaking people with intellectual disabilities, the percentage will actually be higher here as well. Most syngap children cannot speak or can speak only a little. Therefore, they urgently need appropriate aids for AAC such as a talker and accordingly also a speech therapy experienced with it. Syngap1 children often show challenging behaviour. They often have typical obsessions such as water, music, lifts, escalators, fans or driving in any form.
Care provisions
This support group organisation offers the following
- Participation in registries
- Social / legal advice
- Internal forum
- Regular meetings
- Newsletter / Association journal
Mentioned facilities 2
Preview of the represented diseases 1
6.57705374041776251.323887299999996SYNGAP Elternhilfe e.V.
Last updated:
26.01.2022