3P25 Deletion Syndrome. - Today we welcomed back a two year old little girl for her second
assessment. She has an exceptionally rare genetic disorder known as 3p25 deletion syndrome. This is so rare that since the first person was reported in the medical literature in 1978, only around 50 people with a 3p25 deletion involving no other chromosome(s) have been described in the medical literature. Today after 10 months on the Snowdrop programme she had made some very significant developmental gains. Her visual ability has moved from the 4 month level to the 12 month level. Her auditory development has moved from the 8 month level to the 18 month level. Gross motor skills have improved from not even sitting, to standing against furniture, - she is well on the way to developing a standing balance. Language has moved from the 7 month level of babbling, to the 14 month level of possessing two words of speech, - 'dada' and 'go.' Socialisation has moved from the 8 month level to the 18 month level. It just shows that genetic expression can be fought against. Well done to mum and dad who have brought about this dramatic change!
Showing posts with label Global developmental delay. Show all posts
Showing posts with label Global developmental delay. Show all posts
Saturday, 6 October 2018
Monday, 3 April 2017
Treating Global Developmental Delay.
Today we welcomed back a 2.5 year old little boy for his fourth assessment. He had developmental delay in many areas prior to starting the Snowdrop programme, but now he is age appropriate in visual development in that he is able to recognise familiar people in photographs and recognise himself in a mirror. He is also age appropriate in social development where he is understanding the emotions of those around him, throwing age appropriate tantrums and beginning to cross over from 'parallel play' into joined play with other children. He is not far behind in auditory development, following instructions and clearly understanding more complex sentences and more and more vocabulary. He is also on the verge of walking, it is just a matter of confidence and time. Hand function has also improved dramatically. - His left hand was only half as able developmentally as the right, but now it is difficult to separate the two hands. A very different little boy to the one I met a year and a half ago.
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