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!

Tuesday, 7 November 2017

Neonatal Arterial Stroke.

Many people associate strokes with age, but they might be surprised to learn that a great many young children suffer strokes.  Stroke happens in about 1 in 4,000 live births. The risk of stroke from birth through age 18 is almost 11 in 100,000 children per year.  So it is a great deal more common than one might imagine.

Today we met a nearly 3 year old little girl who has developmental delays due to a neonatal arterial stroke. She was absolutely delightful, just starting to walk and talk, mum and dad, as with all mums and dads have already performed wonders with her. Can't wait to get her started on the Snowdrop programme.

We have a few children on our programme who have suffered varying types of stroke and most of them are making good progress.  Let's hope this little girl follows in their footsteps.


Monday, 6 November 2017

Cerebral Infarction, Leukomalacia and HIE

Today we welcomed a nearly 3 year old little girl and her family back to Snowdrop for her fourth assessment. She had suffered a cerebral infarction, leukomalacia and HIE, but she also has retinal dysplasia which curtails visual ability markedly. For those of you who are unfamiliar with these terms, please allow me to explain.

(1). Cerebral Infarction. - This refers to a loss of brain tissue in an area, caused by lack of oxygen.

(2).  Leukomalacia. - This is loss of white matter, (the myelin sheath which surrounds axons and enables the electro-chemical signal created in the neuron to travel at great speed).

(3). Hypoxic Ishaemic Encephalopathy, (HIE) is a type of brain damage that occurs when an infant's brain doesn't receive enough oxygen and blood. So really it is another way of framing an infarction.

Even though she has retinal dyslpasia, she made eye contact, pulled my glasses off, (a favourite pastime of children) and I noticed her follow my wife, who was a short distance away. Auditory cognition is now above age level with her previous sound sensitivity having been resolved. Her tactile processing issues also seem to be resolved and socially she is an absolute delight, performing at near age level. Such a friendly, playful little twee, it is so nice to see her making progress.

Friday, 3 November 2017

1p36 Deletion Syndrome

1p36 deletion syndrome affects between 1 in 5,000 to 1 in 10,000 children.  It is characterised by severe intellectual impairment, lack of language development, temper tantrums and other behavioural issues.  There can be structural abnormalities in the brain which also cause low muscle tone and difficulties in swallowing. Children can take a long time in rolling over, sitting, etc The only treatments which have been widely used are physiotherapy and music therapy, which have had limited impact.  

6 months ago I was delighted to welcome a 12 month old little girl with 1p36 deletion onto the Snowdrop programme where we try to harness the inherent plasticity of the brain in order to stimulate development.  Today the little girl in question attended with her parents for her first reassessment.  we saw some promising improvements. She is now rolling and sitting, her visual performance was improved and she is now listening to the voices around her, which gives her a chance to begin decoding language. She also now recognises her own name. Hand function is also showing good improvement with the development of a pincer grip and we also have gains in social development.  As I say, children with this disorder usually have feeding and drinking problems due to their difficulties with swallowing, but we seem to have had a positive effect here with this little one eating and drinking with impunity.

All this in the face of a genetic expression which is acting to prevent development. If we can do this in 6 months of programme, imagine what we can achieve in the long term!