1P36 Deletion Syndrome.

1p36 Deletion Syndrome according to Genetics Home Reference is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).

People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). Affected individuals also have distinctive facial features including deep-set eyes with straight eyebrows; a sunken appearance of the middle of the face (midface hypoplasia); a broad, flat nose; a long area between the nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped.

People with 1p36 deletion syndrome may have vision or hearing problems. Some have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia.

 We were very pleased to welcome a two and a half year old little boy back today for his second assessment. He has 1p36 Deletion Syndrome and when we first saw him, he posted some pretty low scores developmentally, but it was obvious that the potential for improvement was there! So he has been on the Snowdrop programme for 7 months and at his assessment today, his visual development had moved upwards from the 8 month level to the 14 month level. His auditory development was up from the 7 month level to the 14 month level. In gross motor development he is working towards developing a standing balance and he is well on his way to it! In terms of language he has moved from the 6 month level to the 14 month level and I heard him say two words today, 'more,' and 'go.' Hand function is also improving with his right hand now operating at the 15 month level and social development which was at the 6 month level is also now at the 15 month level. He is so much more engaged with his environment and all this improvement has been gained against the backdrop of a genetic expression which is trying to drag him down. Absolutely stunning reassessment, well done to mum and dad!  If you require any information about Snowdrop, simply email info@snowdrop.cc