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Rett syndrome ??

(5 Posts)
user1495921158 Sat 27-May-17 23:08:18


I'm really concerned about my 19 months DD. She hit or her gross motor milestones a bit later than usual (sat at 6/7, crawled on 4 at 11 months)
At 14 months, she was finally pulling up, cruising at 15, standing alone at 17. Now she can take 4 /5 steps on her own before losing balance. Those steps are weird tho. She has a wide gait and her legs are stiff, she walks like a robot.
She crawls fast and started knee walking 2 weeks ago.
She points a lot to what she wants and only has 3 words (approximations) other than mama and dada.
her receptive language is not at peers level neither (she will get very simple commands but can't point to body parts or pictures in a book)
she can feed herself, has imaginative play, no sensory issue ...

Lately I realized she has a lot of hand motions. She flaps her hands when excited, she also opens and closes her fist really fast multiple times a day, touches her face a lot (mainly her mouth) and on 2 occasions, I saw her doing the typical hand wringing.
Now I'm in total disarray.

I would like to know if anyone here as some experience with RTT ?
Do hand stereotypes kick in one day or do they appear progressively

AssassinatedBeauty Sun 28-May-17 06:18:29

What has made you think of Rhett syndrome, which is quite rare? Are there other physical symptoms that worry you? Have you had a recent check up with a HV or GP?

tessiebear4 Sun 28-May-17 07:48:59

She sounds totally normal to me!

user1495921158 Sun 28-May-17 09:02:57

@AssassinatedBeauty: As I said, she's 19 months and still not walking on her own. She can take a few steps but with a weird gait and one leg quiet stiff (not always the same). Lately, she seems to be regressing in cruising and transitions. She used to cruise like a pro and roll very fast from her back to a sitting position. Now she has to try multiple times and when she cruises, she seems more unsteady than before.

she also has more and more weird hand motions. one of them is to extend her arm with her fist closed and press her thumb and index together multiple times. She does this more and more everyday.
She will touch her face multiple times, pull her hair for no reason and does quiet a lot of flapping.

I first thought about Rett when I saw her do the wringing motion. It seems to be very specific in Rett. She did it twice in the last 48h.
What I wanted to know is if a child can do this and not have Rett ?

Also, how normal it is that she is so delayed ? She doesn't have any physical problem (hypotonia, hyper mobility, hips problem) was not preterm or sick.

AssassinatedBeauty Sun 28-May-17 09:48:50

When was the last time a HV or GP saw her? Did they have any concerns? If it's been a while since she's been seen by anyone then maybe it's worth seeing someone to discuss it. You could video the more unusual behaviours so that you can show them exactly what you mean rather than just trying to describe it.

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