In brief
Rett syndrome mostly affects girls. A little girl seems to develop normally in the first months, then starts to lose some speech and use of her hands, and repeated hand movements appear, like wringing or clapping. An early diagnosis ends a long search for answers and opens the way to a care plan that helps your daughter communicate and move as well as she can.
Overview
Many families are first told their daughter has autism, because communication drops in both. But Rett syndrome has its own signs, most of all losing purposeful use of the hands and repeated hand movements. We listen to your daughter’s story since birth and watch her videos, then confirm with a genetic test.
Signs that call for a doctor’s opinion
- Stopped saying words she used to say
- No longer holds things or uses her hands as before
- Often wrings, claps or mouths her hands
- Her head is growing more slowly than expected
- Sometimes holds her breath or breathes fast
Seek emergency care straight away for:
- Seizures
- Choking often while eating or drinking
- Lips turning blue during breathing episodes
How is the assessment done at the clinic?
- 1
We hear your daughter’s story
When her skills appeared and when they began to fade, with videos from different ages.
- 2
We observe and examine
Her movement, hands, communication and breathing.
- 3
We tell it apart from autism
We explain the difference clearly.
- 4
We confirm and plan
A genetic test, then a full care plan.
Tests that may be requested
Not every child needs all of these; tests are chosen from what the assessment shows.
Genetic test
A simple blood sample that confirms the diagnosis in most cases.
A wider genetic test
If the first test is normal but we still suspect it.
EEG
If there are seizures or movements that need checking.
Nutrition and back checks
To keep an eye on weight and the spine.
Care and follow-up
- Treating seizures and other symptoms
- Physio, speech therapy and tools that help her express herself
- Keeping an eye on eating, breathing and her back
What to bring
- Videos of your daughter before and after the change
- Earlier head measurements if you have them
- Any previous genetic tests
- Your notes about sleep, breathing and eating
Frequently asked questions
We were told it’s autism. How do we know if it’s Rett?
In Rett, a girl loses use of her hands, repeated hand movements appear, and head growth may slow. A visit and a simple genetic test make it clear.
Can boys have Rett syndrome?
Very rarely. Most cases are in girls.
Is there anything we can do for our daughter?
Yes. A care plan helps her move and communicate, eases symptoms and makes daily life more comfortable. And you are not alone on this journey.
Could it happen again with another child?
In most cases the change happens for the first time in the girl and isn’t inherited, but we talk through your own family’s situation.
This information is educational and should not be used to diagnose your child or change treatment without a medical assessment.