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

Infantile Spasms.

It never occurred to me, up until it was pointed out today that I don't include updates for our children on the distance programme. So here goes one. Over the past few days I have completed the third distance reassessment on a 22 month old little girl who suffered infantile spasms. When we first started the Snowdrop programme she was 11 months old and already age appropriate in visual development, but did have a strabismus and poor magnocellular processing. She is now just above age level with an improving strabismus and normal magnocellular processing. Auditory development was just below age level and now it is just above age level. In terms of gross motor skills, she is now showing signs that she is ready for us to start developing a standing balance and her language is now at the level where she is producing 'scribble talk' and beginning to try a few words. Fine motor development which was at the 4 month level is now touching the 15 month level and it was great seeing her trying to build with blocks and feed herself with a spoon. Social development is not far from age appropriate levels. She has made some nice progress in the last year. Well done!  

If your little one has experienced infantile spasms, which have affected their development and want more information, contact us on info@snowdrop.cc

HIE Grade 3.

Perinatal asphyxia, more appropriately known as hypoxic-ischemic encephalopathy (HIE), is characterised by clinical and laboratory evidence of acute or subacute brain injury due to asphyxia. The primary causes of this condition are systemic hypoxemia and/or reduced cerebral blood flow (CBF).  At Snowdrop we see many children who have suffered HIE.  It is graded in rank of severity, grade 3 being the most severe.

Today we welcomed back a 23 month old little girl for her 5th assessment. She had suffered an HIE grade 3, which is severe and I first saw her when she was just 6 weeks old. Since that time, she has come along wonderfully and it was great to see her walk into Snowdrop today for the first time. She is now well ahead of her age level in visual cognition and auditory cognition, (30 months and 40 months respectively), her language is age appropriate in that she is now putting two words together in what is known as 'telegraphic speech' and her social development is also age appropriate. The only problems which remain are use of the left hand, which is coming along nicely and refinement of her walking, which as she has only been walking for a few weeks, may come naturally and will in any case continue to improve as we improve tactile performance in the left side limbs. Well done folks, I don't need to see you for a year! (we will keep in touch though in the meantime).

If you need to contact Snowdrop, you can do so at info@snowdrop.cc