1p36 deletion syndrome affects between 1 in 5,000 to 1 in 10,000 children. It is characterised by severe intellectual impairment, lack of language development, temper tantrums and other behavioural issues. There can be structural abnormalities in the brain which also cause low muscle tone and difficulties in swallowing. Children can take a long time in rolling over, sitting, etc The only treatments which have been widely used are physiotherapy and music therapy, which have had limited impact.
6 months ago I was delighted to welcome a 12 month old little girl with 1p36 deletion onto the Snowdrop programme where we try to harness the inherent plasticity of the brain in order to stimulate development. Today the little girl in question attended with her parents for her first reassessment. we saw some promising improvements. She is now rolling and sitting, her visual performance was improved and she is now listening to the voices around her, which gives her a chance to begin decoding language. She also now recognises her own name. Hand function is also showing good improvement with the development of a pincer grip and we also have gains in social development. As I say, children with this disorder usually have feeding and drinking problems due to their difficulties with swallowing, but we seem to have had a positive effect here with this little one eating and drinking with impunity.
All this in the face of a genetic expression which is acting to prevent development. If we can do this in 6 months of programme, imagine what we can achieve in the long term!