Snowdrop, - A Week of Developmental Assessments. Week Beginning 16th May 2016

We had three assessments this week, on Monday we saw a 5 year old little girl for her fourth assessment. She has 'Phelan McDermid' syndrome, which is basically where a chunk is taken from chromosome 22, - it is quite rare and can produce all sorts of problems, but commonly comes through with autism type issues. I was overjoyed today when for the first time she walked into the room, looked me straight in the eyes, flung her arms around me and gave me a cuddle. Other improvements were both hands working cooperatively for the first time, spontaneous interaction, - she was constantly trying to involve me in her play. It was also good to see her and her little sister 'tussling' over possession of a toy, - a very natural, normal scene. we have a little girl who is beginning to emerge out of her bubble, - we have 'chinks in the armour.' Now to prize them open!

On Tuesday we saw a 3 year old little girl who does not have a diagnosis. She does have severe neurodevelopmental problems however and she was returning with her mum and dad for their first reassessment and what a stunning difference there was. Visually she has moved from the 12 month level to the 24 month level, with similar surges forward in auditory development where she is understanding much more language. She even produced independent forward movement when I placed her on her tummy. In fact there were improvements in every area of development. Yes, she still has problems, but is she moving in the right direction, - definitely! She is a concealed intelligence, but I can see her! Well done to all!

 On Thursday we received a two year old little boy who has developmental delay, for his third assessment and my, how he is coming along. When he first started the Snowdrop programme 10 months ago, his vision which is affected by optic nerve dysplasia was at the 12 month level. Now however, he is much more visually 'switched on' and is operating at more like the 30 month level. His auditory abilities which were at the very basic levels of a 3 month old baby are now at the 24 month level where he is understanding simple sentences, listening to stories and understanding what some parts of his body are called. His tactile processing problems are much improved and we are just starting to work on developing a standing balance, where before, he wasn't even sitting. He has made huge gains in every area since we first met. He is a delightful little chap with a great family around him.

Another very satisfying week!

Snowdrop. - A Week of Developmental Assessments. Week beginning 9th May 2016

We began the week by seeing a 7 year old little boy with ADHD for his second assessment. Such an intelligent, gentle little boy caught up in a whirlwind of his own hyperactivity, but definitely calmer than his first assessment and his attention definitely easier to capture. Sometimes it can take time to slow hyperactive kids down, but I feel we are making progress.

On Tuesday we saw a 4 year old little girl who has PVL and developmental delay. Today was her 7th assessment and although she still has significant problems, she is streets ahead of that 1 year old I first saw who was locked away within herself. She is using her vision beautifully to explore her environment, understanding more language, making choices, crawling on all fours and we are not far away from standing. Like me though, she is totally motivated by food!

On Wednesday we welcomed a 4 year old little boy for his 9th assessment. He has a diagnosis of severe cerebral palsy and was forecast not to live. Yes he still has many problems, but he is absolutely streets ahead of where he would have been and is thriving. His visual and auditory cognition have risen to where they will soon be at the top of the developmental profile, - he can sit, can stand with support and his tactile processing issues are resolved, as is his inner anxiety. His muscle tone is much improved and we now have 3 words of speech, (with many more to come I think). There is a massive difference in his awareness of and engagement with his environment and the people in it. It has taken a while and a great deal of hard work, battling against epilepsy too, to achieve all this, - but look how far he has come in comparison to that initial prognosis, which was as bad as it can get!

On Thursday, we welcomed a 7 year old little girl back for her 3rd assessment. Her diagnosis is cerebral palsy and CVI. Today I watched her visually steering her hands, taking the top off a pen and replacing it with great precision, which is great because hand function is also a problem. Visually and auditorially she is now 'switched on' and has visual and auditory abilities at the top of the profile, is trying to get herself into the 4 point crawling position and has an expanding vocabulary of words. A super assessment with a highly intelligent little girl.

We finished the week by meeting a great new family with a 20 month old little boy who has no formal diagnosis but what the medical people feel looks like developmental delay / cerebral palsy. He is such a bright gregarious little chap, I could have stayed there all day with him. Again, a little one with huge things going for him despite his developmental problems. A lovely way to end the week.

Mowat Wilson Syndrome

Today I saw one of the most incredible transformations of a little boy. The little one in question has Mowat-Wilson syndrome,  Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder include distinctive facial features, intellectual disability, delayed development and intestinal disorder
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Mowat-Wilson syndrome is often associated with an unusually small head, (microcephaly), structural brain abnormalities, and intellectual disability ranging from moderate to severe. Speech is absent or severely impaired, and affected people may learn to speak only a few words. Children with Mowat-Wilson syndrome also have delayed development of motor skills such as sitting, standing, and walking.

We first saw the little chap in question 5 months ago when he was 15 months old, - he was not sitting, not crawling, not understanding any language, had poor hand function and was generally behind in every area of development. Today, after 5 months on the Snowdrop programme, I met a little boy transformed! He was visually and auditorially curious, understanding some language, sitting, crawling in a good cross pattern, trying to pull himself to stand and well on the way to developing a standing balance. His hand function was dramatically improved, to the point where he was using a pincer grip in both hands and trying to feed himself with a spoon. Dramatic gains in 6 out of 7 developmental areas, against the background of a genetic expression trying to prevent that! Not a bad start to the week and another little superstar is born!

Neonatal Alloimmune Thrombocytopenia

Today we saw a little boy who had neonatal alloimmune thrombocytopenia at birth which caused him to suffer brain haemorrhages. We first saw him 2 years ago and since he started the programme the progress in language development, hand function, social development and in his level of understanding has been phenomenal. He is also well on the way to developing a standing balance, which will be a step away from walking. He got a bit upset with me today, which upset me because I want children to come and have a good time. Such an intelligent little boy though, he will go far!  Just shws what is possible with effort and patience.

Autism and the Snowdrop Programme.

Today we met a lovely new family who have a 7 year old little boy with autism. He is a great little guy with a lot going for him. Reminds me of another little chap who used to be on programme named Leo, who some of you will remember seeing on video, (above). 

Leo was a mess of sensory processing problems, so much so that he could not come to see us for his first assessment, we had to conduct the assessment remotely.  By the time of his second assessment, we had made such inroads into his problems that he and his mum were able to travel to see us.  Ultimately, he did really well on the programme and his diagnosis of autism was withdrawn.  The little chap we saw today also has lots going for him. Looking forward to getting him started.

Development in the Face of Lissencephaly

Today we saw a 19 month old little boy who has been on the Snowdrop Programme for 5 months. He has Lissencephaly, (a genetic condition which essentially means that his cortex does not have the folds which are normally there, it is smooth). This was his 2nd assessment and there were some nice improvements to see in vision, tactile perception, hand function and reciprocal communication. Again, this proves that even in the face of altered genetic expression, we can still stimulate development.

I Can See and Hear.

This morning was the 4th assessment of a little girl whose diagnosis is 'spastic quadriplegic cerebral palsy.' 'cortical visual impairment' and 'bilateral severe/moderate hearing loss.' When we first saw her she was 2.5 years old and in the 18 months she has been on the Snowdrop programme, she has moved to the top of the developmental profile in both visual and auditory development. Such a lovely, intelligent little girl.

West Syndrome. - A Family Fight Back on the Snowdrop Programme.

Today we saw a little boy with West Syndrome for his first reassessment and wow has he made progress in every area of development! 

When we first saw him, he was 10 months old and visually he was operating at the functional level of a 4 month old.  Now, he is 17 months old, which means he has been on the Snowdrop programme for 7 months and is operating visually at the 12 - 14 month level.  In terms of auditory development and comprehension, he has progressed from the 4 month level to the 9 month level.  Tactile perception has transformed from being grossly under-sensitive to being normal.  He has gone from sitting to crawling on all fours and also high kneeling.  He is beginning to try to pull himself to stand. His hand function has gone from basic reaching and grasping to having a sophisticated pincer grip in both hands and both hands working cooperatively. His social development is now age appropriate. 

It just goes to show that even against the flow of genetic expression, progress can be made!

ADHD and Sensory Processing Disorder.

Today, to end a busy week, we met another lovely new family to the programme with a little boy who is just much too physically active and just cannot stop.  He has extreme ADHD.  He also has huge sensory processing and attentional issues. underneath it all is a beautiful, intelligent little boy. We shall endeavour to lead him out of the world in which he is trapped into a calmer, organised world of normal sensory experience.  We have the techniques to slow him down, so that he can then develop and use his attentional abilities properly.  Only then will he join 'our world' and begin to learn the way he should.  Watch this space!

Antihistamine Promotes Remyelination

With thanks to Medscape, a fascinating piece of research about antihistamine and remyelination which will also be applicable to children on the Snowdrop programme who have myelination issues.  

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A common antihistamine available over the counter has shown evidence of remyelination in patients with multiple sclerosis (MS) in a double-blind, placebo-controlled trial.

The study showed that clemastine — at a dose just a little higher than that approved for allergies — reduced the transmission delay in the optic nerve seen in patients with MS and chronic demyelinating optic neuropathy.

"We are extremely excited about these results," lead author, Ari Green, MD, medical director, University of California San Francisco (UCSF) MS Center, commented to Medscape Medical News. "Our main message is that it appears to be possible to repair injury to nerve cells in MS by remyelination. We have been taught that the brain can't repair itself, but our results suggest that this is not true. This could have consequences for many other neurodegenerative diseases as well as MS."

The results were released April 12 in advance of their presentation at the upcoming American Academy of Neurology (AAN) 2016 Annual Meeting.

The phase 2 crossover study — which is said to be the first randomized controlled trial documenting efficacy for a candidate remyelinating agent in MS — compared twice-daily oral clemastine to placebo in 50 patients with MS and chronic demyelinating optic neuropathy. The study period was 150 days.

The primary efficacy endpoint, latency delay on visual evoked potential (VEP; the time for transmission of signal from the retina to the visual cortex), was reduced by 1.9 ms/eye for the period on treatment with clemastine (P = .003).

Dr Green explained that VEP records the speed of transmission in the optic nerve from the visual stimulus to the processing of the image in the visual cortex of the brain.

"Good myelination of the nerve enables the signal to travel faster. For example, in an unmyelinated fiber, the signal would travel at a speed of 1 m/s. In contrast, a myelinated fiber would transmit the signal at about 100 m/s, 100 times faster. Demyelination as seen in MS-related optic neuritis can delay transmission by 30 to 50 ms. Clemastine seems to restore some of this loss."

The researchers also looked at a functional endpoint — low-contrast visual acuity — and saw a strong trend for improvement, but this did not reach statistical significance (P = .089).

In terms of side effects, clemastine treatment was associated with mild worsening of fatigue on the Multidimensional Assessment of Fatigue scale (P = .017).

Reflection of Nerves Throughout the CNS

Dr Green said that although this study just focused on the optic nerve, it probably reflects what is going on throughout the central nervous system. "We are using vision as a method of testing the principle of remyelination. The optic nerve is an obvious place to start as it is logistically practicable. We believe, however, that it should reflect nerve condition generally and acts like a surrogate marker for the rest of the CNS [central nervous system]."

But he urged caution to patients with MS. "I do not want to make false promises, and I am not advocating that MS patients take clemastine on the basis of this one study. But if they chose to do so, they should have the supervision of a physician and preferably enroll in a clinical study."

Clemastine was identified as a potential remyelinating agent in a screening program developed by a UCSF team led by Jonah Chan, PhD, using precursor cells of oligodendrocytes (the cells that make myelin).

"These oligodendrocyte precursor cells are present in the brain but don't seem to mature and make oligodendrocytes," Dr Green explained. "We are looking for agents which stimulate the precursor cells to differentiate into oligodendrocytes and produce new myelin to repair the damaged neurons. Chan et al tested many different existing drugs and found that clemastine did just that."

The researchers have identified a specific muscarinic receptor at which clemastine is acting to bring about this effect. "It is probable that the drug is only partially saturating the receptor, so we may not be seeing the full effect," Dr Green said.

But because clemastine also acts at many other receptors, his group is looking into developing new agents that act specifically at this receptor, which may be more appropriate for myelin repair. "We also know that there are other nonmuscarinic receptors that appear to bring about similar results, so there are a few possibilities under investigation," he added.

"The screening method has identified the biology. Now we have to fine-tune that biology," Dr Green commented.

Biogen is also developing a compound known as anti-LINGO, which has shown evidence of remyelination. Dr Green noted that the anti-LINGO study recently reported involved patients with a current episode of optic neuritis. "So they showed an acute action, whereas patients in our study had not had a recent episode of optic neuritis and so we have shown evidence of benefit in the chronic phase."

Commenting on the study for Medscape Medical News, Lily Jung Henson, MD, chief of neurology, Piedmont Healthcare, Atlanta, Georgia, said, "This is really exciting preliminary news. The results seem to suggest that clemastine may be effective in remyelination, for which we have no therapies."

She cautioned that larger studies will be needed with patients treated for longer periods of time for confirmation. "As clemastine is an anticholinergic, it will be interesting to see if it causes any worsening of some MS symptoms, such as cognitive difficulties, urinary hesitancy, or constipation," she added.

The study was funded by the University of California, San Francisco.

American Academy of Neurology (AAN) 2016 Annual Meeting. Emerging Science Abstract 008. To be presented April 19, 2016.

Case Study. - A Child with ADHD.

Today's was the 3rd reassessment of a little boy who first came to see us around 18 months ago. He was a little one lost in the tempest of his own hyperactivity. As a consequence, attentional systems had failed to develop and this in turn had affected his ability to learn, understand and produce language, to socialise and to produce sophisticated programmes for gross and fine motor development. Today, 18 months later, we still have problems with levels of physical activity, although these problems are drastically reduced. He is at the top of the developmental profile in visual and auditory cognition and in gross motor development. He has also made huge gains in language production, fine motor development and socialisation. Great to see!