Because Kabuki Syndrome is such a newly described syndrome (1981), there are still very limited places to get information. At present there is a support group in Holland, one forming in the UK, and ours in Canada/USA. We are all very inter-connected and keep each other abreast with information.

Most available information is still in the form of the genetic articles (about 100 of them). The articles report on the various characteristics found. As time passes, more characteristics are discovered and it is always questionned whether this is typical for the syndrome or not related to it at all.

However, that will get you lots of medical knowledge of Kabuki, but not much else. You are likely more interested in the development and therapies of the children. Like many syndromes, Kabuki has a wide variance in abilities and disabilities.

Having read hundreds of letters from parents, having met a number of children, and raising our own 11 yr old daughter with Kabuki, has opened our eyes to the incredible variances the children have. For instance, some children are barely speaking at 6 years of age (using mostly signing), while others speak your ear off. However, virtually all the children do need speech therapy. Often they don't finish their words (failing to say the last sound) and so their words seem to run together. Their speech is also dependent on how much (if any) hearing loss they have.

Intellectually there's also a wide variance. Although most children have mild to moderate intellectual disabilities, some do not. There are some who are able to follow the regular curriculum. They may still need assistance with speech and fine motor, but cognitively, they do very well. It seems to me that many parents write that their children do quite well with reading skills, but find math very difficult. Others are not yet reading as teenagers. Here's an example. This past summer we met with a 9 year old boy with Kabuki. He could read the entire fast food menu at an ice cream stand. He actually read simple novels for enjoyment. This amazed us since our daughter, Tara, 11, can only read about 40 words. However, this boy had a VERY short attention span - constantly moving from one activity to the next. Tara, on the other hand is able to stay with an activity for over an hour. So, as you see, parenting and teaching these 2 children would be much different!

Virtually all the children have fine and gross motor delays, but again, to varying degrees. Sometimes we read of children who do quite well in school and are therefore minimally cognitively affected but have great difficulty printing - so much so that they mostly use the computer. And then there's our Tara who has considerably more disability congnitively, but can print quite well - at about the level of a 5 year old. And this leads us to wonder - how do we actually measure cognitive skills? There's so many aspects to intelligence!

Gross motor includes issues of balance. The children are usually able to climb monkey bars, slides, swings, etc. But riding a 2-wheeler, coordination with balls, etc all will take longer. They may not walk, run with the same refinement as other children their age. Many have very loose ligaments which means their muscles need to do much more work. That may be why they tend to tire more easily. Some will have problems with their joints dislocating (partly due to the lax ligaments, and sometimes due to joint anomalies).

Social development also varies. Many parents write of their children being very loving, hugging everyone, striking up conversations with anyone who'll listen. And others have autistic tendencies, not very social, and behaviour issues. Often the children do not have a good understanding of what's socially acceptable - for instance we're still reminding our older children to close bathroom doors when in public bathrooms. It seems they take language very literally and don't notice the visual cues we often use when speaking - sarcasm, facial expressions, etc.