Version 1: Standard Learning Module Text
Module Title
Module: What is SYNGAP1?
Key Message
Everyone with SYNGAP1 is different.
Some people require a great deal of support, while others need less.
With the right care and understanding, people with SYNGAP1 can live happy lives.
What is SYNGAP1?
SYNGAP1 is a rare genetic condition.
It happens when a person’s genes change before birth.
Doctors do not yet know why this gene change happens.
It is not caused by anything parents did or did not do.
SYNGAP1 affects how the brain develops.
This can slow down basic development skills, especially in babies and children.
Developmental Skills That May Be Affected
Some people with SYNGAP1 may find it harder to:
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Walk
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Talk
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Sit independently
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Hold or use objects
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Learn new skills
SYNGAP1 can look similar to Global Developmental Delay, but it has a different name because the gene change is different.
Behaviour, Communication, and Mental Health
SYNGAP1 can affect:
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How people behave
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How they communicate
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How they interact with others
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How they feel emotionally
Some people may:
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Find it hard to listen for long periods
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Struggle to focus
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Act without thinking (impulsivity)
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Show challenging behaviour
Some people may:
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Hit themselves or others
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Bite hands, arms, or nails
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Repeat the same actions
Safety is very important, and support plans may be needed.
SYNGAP1 may affect mental health, but not everyone will experience mental health difficulties.
Health and Associated Conditions
Some people with SYNGAP1 may also have:
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Epilepsy (seizures)
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Autism
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Muscle weakness, affecting movement
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Sensory sensitivities (noise, lights, touch)
Some people:
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May not feel pain until it becomes severe
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May flap their hands
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May struggle with eye contact
Eating and Physical Needs
Some children and adults may have:
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Eating or feeding difficulties
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Trouble chewing or swallowing
In some cases, a feeding tube may be needed to help with nutrition.
Diagnosis and Support
SYNGAP1 can be hard to diagnose.
If you are concerned:
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Talk to a doctor or health professional
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A genetic blood test may be needed
If you are concerned about someone else:
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Talk to them if possible
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Speak to their parent, carer, or support worker
Early support can make a big difference.
Useful Organisations
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SYNGAP1 UK
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Genetic Alliance UK
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Cure SYNGAP1
Version 2: Easy Read Version
What is SYNGAP1?
SYNGAP1 is a rare condition.
It happens when a gene changes before birth.
No one knows why this happens.
It is not anyone’s fault.
How Does SYNGAP1 Affect People?
SYNGAP1 affects how the brain works.
People may find it hard to:
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Walk
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Talk
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Learn
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Use their hands
Everyone with SYNGAP1 is different.
Behaviour and Feelings
Some people may:
-
Find it hard to listen
-
Act without thinking
-
Repeat the same actions
-
Hurt themselves or others
Keeping people safe is important.
Health Needs
Some people may also have:
-
Epilepsy
-
Autism
-
Weak muscles
-
Eating difficulties
Some people:
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Do not feel pain easily
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Are sensitive to noise or bright lights
Getting Help
If you are worried:
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Talk to a doctor
If you are worried about someone else:
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Talk to their family or carer
With the right support, people can live happy lives.
Version 3: Quiz – Standard Version
1. What is SYNGAP1?
a) A learning style
b) A rare genetic condition
c) A mental illness
d) An injury
2. When does SYNGAP1 usually begin?
a) In adulthood
b) After school starts
c) Before birth
d) After an accident
3. Which skills may be affected? (Choose two)
a) Walking
b) Talking
c) Wearing glasses
d) Driving
4. True or False:
SYNGAP1 is caused by something parents did wrong.
5. Name one condition that can occur with SYNGAP1.
Study the text on this site or elsewhere, try the quiz, check your answers, good luck. Don't worry, remember this is only a practice for those of you working or and studying in the disability and mental health field. Remember this blog and book to come isn't just for students, trainees, workers etc but parents, carers, families and the people with conditions too. Only do the quiz if you need to or and want to.
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