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!

Premature Birth, - Brain Haemorrhage, - Ventriculitis, - Meningitis.

Today we welcomed a two and a half year old little boy back for his 5th assessment. He had been born 12 weeks early with fluid on the brain, a brain bleed on both sides, ventriculitis, and he contracted ecoli bacterial meningitis at 8 days old. He nearly died, he was having bad seizures, so much that his body was jerking off the bed and his mum and dad were told there would be long term effects of this meningitis as he was so sick. Unfortunately he got meningitis another TWO times. He had an MRI which showed brain damage and unfortunately he had to have a shunt fitted as the third bout of meningitis finally cleared up. The hydrocephalus was very severe and neurosurgeon mentioned more brain damage. As you may imagine, the prognosis for someone who has been through that level of neurological trauma is not good. So today was a joyous day because after 2 years on the programme we were able to discharge him as completely well! He now has the developmental profile which someone of his age who is uninjured would have and he is hitting all his milestones. He is indistinguishable from his twin brother. Well done to mum and dad, you rescued him!

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

Down's Syndrome

Down syndrome is a chromosomal disorder caused when an error in cell division results in an extra 21st chromosome.There can be impairments in cognitive ability and physical growth, mild to moderate developmental disabilities, and a higher risk of some health problems.

Through a series of screenings and tests, Down syndrome can be detected before or after birth.

The likelihood having Down syndrome is around 1 in every 700 pregnancies. It is determined by many factors, but research suggests there is a higher risk if the mother delivers at over 35 years of age.

Before the age of 30 years, fewer that 1 in 1000 pregnancies will be affected by Down syndrome. After the age of 40 years, this figure rises to about 12 in 1,000.

Snowdrop has experienced some really good results in treating the developmental problems produced by Down's syndrome and this article is a good example of that. http://www.madeformums.com.baby/downs-syndrome-mums-story/42812.html

This morning we welcomed another little boy of 2.5 years, with Down's syndrome for his first assessment. It turns out he is a very good judge of character as he would not have anything to do with me! I had to work through his mum, but we got there in the end. We are hoping for similar results to the little girl in the article.

3P25 Deletion Syndrome.

3P25 syndrome is a very rare genetic disorder affecting something like 1 in 500,000 live births and the problems it can cause for the child can vary widely, creating a spectrum.  Therefore each person with a 3p25 deletion is unique and will have different developmental and medical concerns. No one person will have all of the features listed her – even if their chromosome deletion appears to be exactly the same. However, a number of common features have emerged:

• Low birth weight, most children also grow slowly and remain short. 
• Feeding problems
• Delay in reaching baby ‘milestones’ and later developmental delay 
• Hypotonia - floppiness 
• Need for support with learning 
• Ptosis – an inability to fully raise the upper eyelid 
• Unusual facial features, such as wide-spaced eyes, low set ears, and a long groove between the nose and upper lip 
• Small head (microcephaly)
• The head is sometimes an unusual shape 
• Autism and challenging behaviour 
• Many children have a cleft palate or other palate anomalies 
• Extra fingers and/ or toes 
• Dimple near the base of the spine 
• Bowel or intestinal problems 
• Seizures 
• Hearing impairment, temporary in some children 
• Kidney problems 
• Heart conditions 
• Pits/ tiny holes in the cheek just in front of the ears 
• Scoliosis or other mild skeletal problems 

This afternoon a new family with an absolutely beautiful 14 month old little girl joined us on the Snowdrop programme. She has 3p25 deletion syndrome, but mum and dad have already worked so hard with her and done really well. Let's hope we can add even more to their achievements. She is such a cutie!