I first encountered Rett Syndrome a few months back when I was told it was “like” autism. As my son is autistic I take something of an interest in the subject. (In fact Rett Syndrome is not really like autism but they do share some signs and symptoms in common).
That being said I thought it might be useful to share some of my finding with my readers. Both of course to create awareness of Rett Syndrome but also to spark a discussion among parents of children with Rett Syndrome about the condition and how they deal with it.
Okay so what is Rett Syndrome? Well it is described as a neurodevelopmental disorder. Which means that it only starts showing symptoms after a few months rather than at birth. In fact almost all people with Rett Syndrome are almost always likely to be female. Around 1 in 12,000 people are diagnosed with Rett Syndrome which means that it is described as a rare condition. It is caused by a genetic mutation.
Typically Rett Syndrome develops in 4 stages.
a) The first is slow development and late making of developmental milestones. As well it can include:-
general floppiness
some difficulty feeding
abnormal hand movements (for example flapping)
little of interest in toys
poor co-ordination
This occurs between 6-18 months.
b) The next stage is referred to as regression (which can be seen as similar to some forms of autism). At this stage the child will lose many quite a few of their abilities. This can include:-
social withdrawal as sometimes found in autism
difficulty in walking
meltdowns and significant distress
hard to use hand as with a typically developing
breathing problems
sleeping problems
slow head growth/small head
This seems to occur between 1 and 4 years of age.
c) The third stage is referred to as the plateau.
problems with weight gain
teeth grinding (or bruxism)
difficulty holding things and using the hands generally
difficulty with moving generally
Girls can also develop epilepsy at this stage and/or have heart problems. That being said some of the earlier symptoms can improve. While this stage starts between 2 and 10 many girls will remain here rather than develop into stage four.
d) The fourth stage is is general issues with movement. Often this involves:-
spasticity such as stiffness of the limbs
scoliosis or bending/twisting of the spine
losing the ability to walk
This stage may last many years.
Though there is no cure for Rett Syndrome there are many ways of managing the condition. Occupational therapy and physiotherapy works well. A diet promotes growth and the typical therapies for scoliosis and epilepsy.
For more information and an excellent overview of Rett Syndrome can I suggest you have a look at Rett UK’s web site here.
Thanks very much for your interest
We have a daughter, 30 who was diagnosed with Rett syndrome at the age of 11. Until then she had been diagnosed as Autistic and in fact in the early days her symptoms were similar to a child with Autism. It wasn’t until later when the Autism seemed to disappear and other physical symptoms appeared and presumably she was going through stage 4 of regression that we had a different diagnosis. Not knowing anything about Rett syndrome Rett UK were invaluable, offering support and an opportunity to meet others who had been through the same as us.
I have a 15 year old with rett syndrome, we noticed around nine months that she wasn’t reaching her normal milestones, it took a further nine months before we saw a paediatrician and a further 18 months till we got a clinical diagnosis. She had a variety of tests done before we got to Great Ormond street hospital, in terms of blood tests checking for various chromosome abnormalities but none checked for rett, eeg, mri brain scans, then one appointment the paediatrician saw her teeth grinding and hand wringing and suggested it could be rett. We had a clinical diagnosis quite quickly at gosh, followed 6 months later by bloody test confirmation.
She is at stage 4 and things have settled down.
Advice I would give to new parents would be contacted rett UK. Don’t get caught up trying to find a cure by yourselves. A cure will come but you need to focus on supporting your child it’s a really tough time and only now feel comfortable to say we are settled with her condition, don’t let rett define your child, font get caught up in the label, my child has taught me do much about the real values in life.