Tuesday, 12 December 2017

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.

Monday, 4 December 2017

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!