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!

Thursday, 23 November 2017

Neonatal Alloimmune Thrombocytopenia

 Neonatal Alloimmune Thrombocytopenia is a disease that affects babies in which the platelet count is decreased Platelet antigens are inherited from both mother and father. NAIT is caused by antibodies specific for platelet antigens inherited from the father but which are absent in the mother.  Fetomaternal transfusions (or fetomaternal hemorrhage) results in the recognition of these antigens by the mother's immune system as non-self, with the subsequent generation of allo-reactive antibodies which cross the placenta. NAIT, hence, is caused by transplacental passage of maternal platelet-specific alloantibody and rarely human leukocyte antigenn (HLA) allo-antibodies (which are expressed by platelets) to fetuses whose platelets express the corresponding antigens. NAIT occurs in somewhere between 1/800 and 1/5000 live births. More recent studies of NAIT seem to indicate that it occurs in around 1/600 live births in the Caucasian population.

 Today we met a 5 year old little boy and his parents for their initial assessment for the Snowdrop programme. The little one had suffered brain injury through neonatal alloimmune thrombocytopenia, which had caused cerebral bleeding and hydrocephalus. His visual abilities are almost completely absent, but he does understand some language, (but only produces a few words). He experiences tactile hypersensitivity and is constantly producing self-stimulatory vestibular behaviours. His left side limbs are very weak and his left hand is hardly used. Looking forward to getting him started and seeing what we can achieve

Thursday, 16 November 2017

Cockayne Syndrome.

According to Genetics Home Reference, Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.
People with Cockayne syndrome have a serious reaction to an antibiotic medication called metronidazole. If affected individuals take this medication, it can cause life-threatening liver failure.
Cockayne syndrome is sometimes divided into types I, II, and III based on the severity and age of onset of symptoms. However, the differences between the types are not always clear-cut, and some researchers believe the signs and symptoms reflect a spectrum instead of distinct types. Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some researchers consider it to be a separate but similar condition, others classify it as part of the Cockayne syndrome disease spectrum.  It is estimated to occur in 2 to 3 per million newborns in the United States and Europe.
Today we welcomed a 5 year old little girl who has Cockayne syndrome onto the Snowdrop programme.  Such a poor little princess who could only just see me at close range and who had very little motor abilities.  However, there is always hope and all we can do is to work methodically on the problems she displays.  The brain is incredible and I have seen the wonders it can perform, even in some of the most severe cases.  Let's see if we can't improve things for this little one.
sometimes. Let's see if we can't improve things for this little one. 

Monday, 13 November 2017

Autism, Sensory processing and Social Communication.

One of the defining attributes of what the world likes to call 'autism' is problems with sensory processing.  I have yet to meet a youngster with autism who does not have some sort of sensory processing issue, be it visual, auditory, tactile, etc, or indeed all the senses.  This is so important because it is these sensory input channels to the brain which dictate the way in which we see, hear and feel the world around us.  This in turn then influence what a child produces by way of the output pathways of gross and fine motor behaviour, vestibular behaviour, fine motor function, language, social communication and emotional behaviour. 

Today we welcomed a four year old little boy and his family from eastern Europe for their first assessment. The little on has a diagnosis of autism, but his major problems lie in the areas of sensory processing and social communication. Of course these two areas are linked.  Because he experiences auditory hypersensitivity, he doesn't like to interact with people he doesn't know, in particular with children.  Children are unpredictable and produce many sounds at the frequencies to which he is sensitive.  His visual magnocellular pathway is under-active, (this pathway helps us to notice movement and aids with visual accommodation) which is why he is focussed on objects which move, in particular objects which spin, (he is unwittingly trying to activate that pathway by creating more and more movement).  Some children with problems here will sit and wave their hands in front of their eyes in an attempt to stimulate this pathway.  This is also why he holds objects close to his eyes in order to observe them.  He spins himself around and spends time upside down in a clear attempt to stimulate the vestibular pathways, which he needs because his balance is very poor, (his brain innately understands this, hence the self - stimulation. - The brain shows us what it needs, we just need to observe)!

He was a delightful little chap who has lots of possibilities. Our first steps, as always are to try to improve sensory processing, because as I say, if the input channels which feed information into the brain are not working correctly, then neither will the output channels because they are operating on faulty information. Let's see how he fares on the Snowdrop programme.

Friday, 10 November 2017

IDIC-15, Chromosome 15q, - DUP 15q syndrome.

Isodicentric chromosome 15 syndrome is a developmental disorder with a broad spectrum of features. The signs and symptoms vary among affected individuals.
Poor muscle tone is commonly seen in individuals with isodicentric chromosome 15 syndrome and contributes to delayed development and impairment of motor skills, including sitting and walking.

Babies with isodicentric chromosome 15 syndrome often have trouble feeding due to weak facial muscles that impair sucking and swallowing; many also have backflow of acidic stomach contents into the esophagus (gastroesophageal reflux). These feeding problems may make it difficult for them to gain weight.

Intellectual disability in isodicentric chromosome 15 syndrome can range from mild to profound. Speech is usually delayed and often remains absent or impaired. Behavioral difficulties often associated with isodicentric chromosome 15 syndrome include hyperactivity, anxiety, and frustration leading to tantrums. Other behaviors resemble features of autistic spectrum disorders, such as repeating the words of others (echolalia), difficulty with changes in routine, and problems with social interaction.

About two-thirds of people with isodicentric chromosome 15 syndrome have seizures. In more than half of affected individuals, the seizures begin in the first year of life.

About 40 percent of individuals with isodicentric chromosome 15 syndrome are born with eyes that do not look in the same direction (strabismus). Hearing loss in childhood is common and is usually caused by fluid buildup in the middle ear. This hearing loss is often temporary. However, if left untreated during early childhood, the hearing loss can interfere with language development and worsen the speech problems associated with this disorder.

Today's family travelled from central Europe to see us with their beautiful 15 month old little girl. She has IDIC-15 which occurs in around 1 in 30,000 births. This was her second assessment, the first one having been a distance assessment, so she has been doing the Snowdrop programme for 6 months. Despite the genetic disorder trying to slow down development, she had made many gains, in visual development, where she is now looking at pictures in a book, auditory development where she is now understanding a few words. In gross motor development she is on the verge of crawling and she is actually moving herself forward. We also see improved hand function and socialisation. Well done to a mum and dad who travelled such a long way and who have worked so hard to fight a genetic condition which is working to stop development. To make gains despite this is truly remarkable.

Wednesday, 8 November 2017

Cerebral Palsy / Developmental Delay.

I often wonder about the term 'cerebral palsy.'  What does it mean?  There are various types of this condition, spastic cerebral palsy, athetoid cerebral palsy, dystonic cerebral palsy, ataxic cerebral palsy, dyskinetic cerebral palsy and mixed cerebral palsy.  All of these are associated with a varying spectrum and degree of developmental delay, in various, or all areas of development.  CP is a description of symptoms, - symptoms which can be so wide ranging and of differing degrees of severity as to make the term virtually meaningless.  Some children with CP can also have elements of what is known as ADHD, Autism and other conditions too.  It is as though when a child suffers a 'neurological incident' he / she places their hand into a bag of symptoms and scatters them onto a table.  Some fall into the circle marked 'CP,' others fall into the circles marked 'autism' or ADHD.  These disgnoses can be 'fuzzy concepts where the boundary of one condition crosses over into the territory of the next, and so it was with the visit of today's little one to Snowdrop.

Today we welcomed back a 3 year old little boy for his fourth assessment. He has a mixed diagnosis, some saying CP and others developmental delay, - essentially it amounts to the same thing. He was a bright button from the start, but now at 3 years old he is performing cognitively at the 5 - 6 year level. His previous tactile undersensitivity has gone and in the 18 months he has been on programme, his language development has jumped from the 16 month level to the 48 month level. The most difficult area for him has always been gross motor development, but he is now taking pleasing steps forward and he is now quadruped crawling. He dressed up specially for us today, wearing a bow-tie, - he looked really cool. I just wish I had his hair, - don't ever dare cut it! Well done to mum and dad, you have worked wonders.

By the time they settle on this one's diagnosis, he'll be fine!