3P25 Deletion Syndrome.

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!

Today's Assessment, 22nd May 17. West Syndrome and CVI

Today we welcomed back a 3 year old little boy and his family for his 4th assessment. He has West Syndrome and CVI and has been on the Snowdrop programme for 15 months.

 West Syndrome consists of group of symptoms characterized by epileptic/infantile spasms, abnormal brain wave patterns called hypsarrhythmia and intellectual disability. The spasms that occur may range from violent jackknife or "salaam" movements where the whole body bends in half, or they may be no more than a mild twitching of the shoulder or eye changes. These spasms usually begin in the early months after birth and can be difficult to control, requiring steriod treatment.

Cortical visual impairment, (CVI) is a form of visual impairment caused by the brain not being able to process information from the eyes passing along the visual pathways in the brain.  In my observation there are varying forms of CVI, caused for instance by the thalamus not exciting the cortex sufficiently to process visual stimuli, to actual injury to the occipital cortices.  Another possibility is that vision becomes 'de-automated!'  Vision is something which just happens to us, we cannot help but see, - it is an automated programme, however I see children who have to be reminded to 'use their eyes!' - It comes in many forms.

With today's little boy we saw clear improvements in the use of vision, which is now 'switched on' for much of the time. He is also understanding more language, responding to simple instructions and his former auditory sensitivity is now gone. His tactile processing problems are resolved and he is now 'high kneeling' and his upper body control is good enough for us to begin working towards developing a standing balance. He also demonstrated that he now has 2 words of speech. He is though, very busy and we have to work further on slowing him down a little. His biggest change in my eyes is in sociability, he now really tries hard to interact. Well done to his parents who work so hard with him. It was great to see you again.

Snowdrop. - A Week of Developmental Assessments. Week beginning 9th May 2016

We began the week by seeing a 7 year old little boy with ADHD for his second assessment. Such an intelligent, gentle little boy caught up in a whirlwind of his own hyperactivity, but definitely calmer than his first assessment and his attention definitely easier to capture. Sometimes it can take time to slow hyperactive kids down, but I feel we are making progress.

On Tuesday we saw a 4 year old little girl who has PVL and developmental delay. Today was her 7th assessment and although she still has significant problems, she is streets ahead of that 1 year old I first saw who was locked away within herself. She is using her vision beautifully to explore her environment, understanding more language, making choices, crawling on all fours and we are not far away from standing. Like me though, she is totally motivated by food!

On Wednesday we welcomed a 4 year old little boy for his 9th assessment. He has a diagnosis of severe cerebral palsy and was forecast not to live. Yes he still has many problems, but he is absolutely streets ahead of where he would have been and is thriving. His visual and auditory cognition have risen to where they will soon be at the top of the developmental profile, - he can sit, can stand with support and his tactile processing issues are resolved, as is his inner anxiety. His muscle tone is much improved and we now have 3 words of speech, (with many more to come I think). There is a massive difference in his awareness of and engagement with his environment and the people in it. It has taken a while and a great deal of hard work, battling against epilepsy too, to achieve all this, - but look how far he has come in comparison to that initial prognosis, which was as bad as it can get!

On Thursday, we welcomed a 7 year old little girl back for her 3rd assessment. Her diagnosis is cerebral palsy and CVI. Today I watched her visually steering her hands, taking the top off a pen and replacing it with great precision, which is great because hand function is also a problem. Visually and auditorially she is now 'switched on' and has visual and auditory abilities at the top of the profile, is trying to get herself into the 4 point crawling position and has an expanding vocabulary of words. A super assessment with a highly intelligent little girl.

We finished the week by meeting a great new family with a 20 month old little boy who has no formal diagnosis but what the medical people feel looks like developmental delay / cerebral palsy. He is such a bright gregarious little chap, I could have stayed there all day with him. Again, a little one with huge things going for him despite his developmental problems. A lovely way to end the week.

I Can See and Hear.

This morning was the 4th assessment of a little girl whose diagnosis is 'spastic quadriplegic cerebral palsy.' 'cortical visual impairment' and 'bilateral severe/moderate hearing loss.' When we first saw her she was 2.5 years old and in the 18 months she has been on the Snowdrop programme, she has moved to the top of the developmental profile in both visual and auditory development. Such a lovely, intelligent little girl.