Friday, 2 December 2011

The child with CHARGE SYNDROME

Patrick
Here is another case study from my files. As always it is totally anonymous, with no identifying features. But it is the case of a little boy with CHARGE syndrome. I am including this partly for a new parent I saw this week who has a little girl diagnosed with CHARGE. Her child is less than a year old. But this little boy is a bit older. It may help to see the sort of thing to expect if your child has CHARGE. But of course every child is different and no two children with CHARGE are alike either.

Distance and near vision
Patrick’s vision is variable from day to day and even from moment to moment. At best Patrick’s distance vision is 6/60, at worst 6/130. 6/60 is the top line of the eye chart. It means he sees at 6 metres what other people can see at 60 (130) metres. He can see large details, shapes, lights, and near objects, so long as he is peering close, if they are at least 3-5 millimetres in size. With this level of vision Patrick is able to distinguish thick lines and large shapes, but not in a complex scene or against a crowded background. Patrick’s left eye has better vision than his right eye and his visual field is restricted by 45 degrees on his left side. Patrick also has a coloboma (incomplete iris and retina), which is part of the CHARGE cluster of symptoms; it is therefore likely his field of vision has patches and holes, which is still to be investigated.

Attention and visual novelty
Patrick looks at picture cards and shows interest in things he is familiar with. He is not immediately interested in unfamiliar things and he takes a little while to become used to new things. Patrick has a cerebral visual impairment, which means he has significant difficulty analysing and processing visual information. He enjoys watching the Baby Einstein DVD, which is designed for those who benefit from large shapes and visual simplicity and he maintains attention throughout. The reduced amount of visual information, plain backgrounds and size of the images and the make this ideal for Patrick to encourage fixing and following. He manages to watch the 32 inch screen at home from about 2-3 metres away. He also enjoys playing with simple puzzles and push button toys.

Smooth pursuit
Generally Patrick is slow in following a moving object and his eyes take a while to adjust to something moving. Patrick’s nanny has tried various DVDs with him.  The French DVD ‘Trotro part en vacances’ is particularly good for his tracking because the movement is slow and images are drawn with large thick lines with a strong contrasting background.

Monocular vision
Patrick has a very weak right eye and relies upon his left eye for gathering information and navigating around his environment. He used to wear a patch but now wears glasses. Patrick tends to turn his head to use his left eye. However although Patrick finds patching the left eye irritating, it still serves to stimulate the weaker right eye. With some training (and patching) there could be some useful vision in the right eye. Patrick likes mirrors and reflections, and can play for extended periods peering close with his left eye at a small hand held mirror. As a test of his peripheral vision I held up an object close to his right side and he did not notice it while the same object on the equivalent position on the left side immediately caught his attention. This demonstrates the absence or poverty of vision on his right side.

Appropriate activities and educational games
Patrick benefits from a multi-sensory approach and simplified, uncluttered visual materials. The nanny has made a sensory book, with enhanced photos of family members, and tactile material. Faces are stuck on a contrasting plain background. Patrick enjoys looking at this book. Patrick can match a large well-contrasting 4-part shape puzzle with no difficulty, with good interest and at a good speed. He has more difficulty with a smaller Teddy puzzle to match the clothes / body parts to the hole. He does not see the hole clearly. This is because of the poor contrast in the puzzle and also his difficulty in judging depth of field. Patrick needs toys with good contrast. Patrick likes holding a six piece puzzle of animal shapes and trying to fit them in the hole. He cannot yet fit them precisely but he makes a good effort.

Mobility
Although CHARGE severely affects the body’s balance system Patrick has developed good compensatory mechanisms and is now walking unaided without falling; only occasionally does he fall over; he may need some monitoring in case he falls over backwards. Patrick now does not bump into things at home or in a familiar environment and he navigates well around.

Social skills
Patrick presently is used to playing with his toys and interacting with adults, and at nursery he is beginning (very slowly) to interact with children his age. He needs to develop his social interaction skills; he will benefit from an open nursery where he can be modelled communication and turn-taking.

Cognitive development
Vision plays such a major part in understanding the physical world that if a child misses out on first hand visual experiences it is likely his concepts may not be formed correctly.  This may therefore cause some cognitive delay. In addition Patrick’s poor attention levels may also play a part in limiting his cognitive development.

Modified learning materials
Patrick benefits from books that are visually adapted for a child with low vision. Pictures should be outlined using a thickness of at least 3-5mm. Backgrounds should be plain, simple and uncrowded and should provided strong contrast with the foreground images. There should be wide spacing between elements of the picture and there should be a minimum of two subjects or focal points on the page. Preferably there would be one main subject in the picture. Patrick would benefit from an approach using objects of reference and such objects should ideally be real objects or parts of a real object that would be appropriate and relevant to Patrick. 

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