A baby with CHARGE syndrome

Here is a summary of my recent visit to a sweet little girl we’ll call Joyce (pseudonym). Joyce is eight months old and has a diagnosis of CHARGE syndrome. So far I have only made one visit but this is how I found her responding to visual stimuli. This was a particularly useful visit as I went with two other colleagues, a hearing impairment specialist and a speech and language therapist. It is always a good practice to make such joint visits.  I post this so that the family can refer to it and in the hope that others may find it helpful. Please feel free to post a comment or suggestion.

I noticed that-

• Joyce follows a flashing light toy that also emits sound. 
• Joyce gave me eye or face contact at about half a metre; that is she looked towards me.
• Joyce looked towards a white tie with black spots 3mm in size. 
•  Joyce has colobomas to her retina, which according to the parents, affect about half the visual field.
• Mother thinks she has upper visual field deficit but has good lower field vision. She reports that the back of the eye, the retina, is half white and half red in reflex.
• Joyce sees details at a maximum distance of 12 inches; beyond this she loses interest and turns away.
• Parents report that Joyce drops an object and looks for it. The speech therapist pointed out that object permanence starts at about 8months.
• Joyce fixes on black and white patterns at 10cm. She gives a good response from the high contrast patterned cards – ‘Wee see like babies’ - Weegallery.com.
• Joyce is interested in her hands; this is the start of eye hand coordination or hand regard. She uses both hands together. I suggested to the mother that she puts gloves on Joyce or tie something visual (and sound emitting) on her hands to encourage hand regard and develop eye-hand coordination.
• Mother says Joyce looks at a book with lots of colours and not very thick lines.   I examined this book and noted that it would be really hard for Joyce to make sense of the pictures, as all the colours merge together. But she no doubt finds the colour interesting.  The colourful pictures may attract her but I do not think she can see the details.
• Joyce does not smile back to a smile. This may be linked to her reduced visual acuity. However she smiles when she hears someone laughing.

Presentation of her eyes

• Joyce has bilateral convergent squints. No patching has been mentioned, or glasses. Joyce has difficulty controlling her eye movements. No glasses have been prescribed.
• Joyce has nystagmus (wobbly eyes) – I was told it was worse when she was 3 months old but seems a bit better now.

Additional sensory needs

Joyce also has a hearing impairment (HI) - No hearing on her left side but some on the right. For Joyce localisation of sound is a problem. This is relevant to her visual impairment because with the squint she may also have a difficulty locating objects. The combination of this difficulty in her two major distance senses will generally be a challenge to her mobility skills. 

The speech and language therapist recommends introducing objects of reference, and suggests she use an object from her routine.

Currently she is lying down a lot; it will be better to stimulate her vision when she is supported sitting upright. 

I used a shiny belt with a mother of pearl effect to gain her attention. She found it interesting and held the metal buckle for a while.

This is a summary. Maybe some of my readers might make some suggestions. Clearly Joyce needs a programme of visual stimulation to maximise her vision.