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In France - Téhani


Tehani (Copier).JPG



Tehani was born in September 2011, she is a very small girl who is still hypotonic and does not sit alone.

The 22q13.3 deletion was diagnosed in June 2013.

It was not until his 10 months as a pediatrician we finally taken seriously in our doubts and said she was hypotonic. It was then that medical research has begun.

Tehani has been hospitalized three times in emergency, since December 2012, after vomiting because she dehydrates very quickly and so we were treated to every 3 to 4 days in Performance, with a battery of tests, n 'gave nothing.

There are 5 months, Tehani, awoke a little more in the world that surrounds her. She always watched over her big brother (3 years) than us, and then she began to look us in the eyes, we smile and laugh when his brother clowns. She loves music, that he sings songs to gestures, and loves turning the pages of books.

She happily like the car, but does not support that you stop at the stop sign or red light, she prefers speed.

It creaks a lot of teeth for a year, and this summer she broke a molar.

Regarding meals, Tehani eat very well but mixed with small pieces or that it crushed between his tongue and palate, if the pieces are too big for her, she pushes his tongue out of his mouth .

It has two physical therapy sessions, and one session per week of speech and CAMSP she psychomotor one session, and one session of creative awakening.



Creation date : 19/09/2013 · 09:09
Last update : 19/09/2013 · 09:16
Category : In France
Page read 2891 times


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22q13 deletion - Phelan-McDermid syndrome
To inquire Getting informations Medical research
  • • 

To consult

= Elever un enfant porteur de la délétion 22q13 (en anglais)

= Elever un enfant porteur de la délétion 22q13 (traduction française)

= Sites d'apprentissage de la propreté (en anglais)

= Relation entre gêne Prosap 2 et délétion 22q13 (en anglais)

= Relation entre gêne Prosap 2 et délétion 22q13 (en français)

= Relation entre gêne Shank 3 et autisme - Institut Pasteur- (en français)

= Etude sur 33 patients : relation entre la taille de la délétion et le développement/comportement (Me Mattéi) (en français)

= La douleur sur internet (en français)

= Vivre avec une maladie rare en France - Guide Orphanet (en français)

= Guide Unapéi - Vivre avec un enfant différent -

= Plaquette UNIQUE sur la délétion 22q13 (en français)

= Article "genetics in medecine" sur la relation entre autisme et anomalies génétiques (en français)


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