Kabuki Syndrome is a newly described syndrome (1981) and therfore there are still limited places to get information. At present there are support groups in Holland, France, the UK, Japan, and this one 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 genetic articles (over 200 of them). The articles report on the various characteristics found. As time passes, more characteristics are discovered and reported. It is always questioned whether the new characteristic is typical for the syndrome or not related to it at all.
The genetic articles give us medical knowledge of Kabuki, but not much in regards to what we can expect in every-day life. You are likely more interested in the development and therapies of the children. As is the case with many syndromes, Kabuki has a wide variance in abilities and disabilities.
Virtually all children have some sort of speech delay and will require speech therapy. There are numerous contributing factors – hypotonia, palate abnormalities, teeth misalignment, and hearing loss. Some children are barely speaking at 6 years of age, using mostly signing, while others begin this process at a more typical age. Most have difficulty with pronounciation - often not finishing their words (failing to say the last letter), making it sound as though their words run together. There are also a number of children who have a nasal sound to their speech because of anomalies with their palate, allowing air to escape through their nose. Hearing loss may contribute to speech delays. Hypotonia is a factor in poor oral control, especially for those children that have been tube fed for a number of years.
Intellectual ability will vary, most children having a mild to moderate disability. Some children are able to follow the majority of the regular curriculum with minor adaptations. Most children, though, will need more extensive adaptations made. The schooling methods vary depending on the child and location. Some are mainstreamed in the regular classrooms with instructional assistants, others attend special education classes with some mainstreaming, others yet are home schooled. Speech therapy and occupational therapies are often part of their curriculum. Printing skills (a fine motor task) can often be somewhat overcome with modern technology. Many children use computers in their later years. Parents write that math skills are difficult for their children. Reading is accomplished by many. But there are also children for whom this is very difficult. Some children are reading short novels by their middle years, others are still working on sight reading a few words in their teens.
All children have fine motor delays, but again, to varying degrees. Printing is often a challenge. Some children use paper with raised lines to make it easier to stay within the lines. Computers are often introduced for lengthier compositions. Occupational and sensory integration therapists introduce various therapies. Body brushing, hand weights, vestibular therapies, proprioceptive therapies, etc all assist the child to ‘awaken’ the senses.
Gross motor delays are common. They 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 loose ligaments which means their muscles must take over the job that their ligaments are not doing. This is made doubly difficult in light of the fact that many have hypotonia (low muscle tone). That may be why the children tend to tire more easily. Some will have problems with their joints dislocating ,partly due to the lax ligaments, muscle hypotonia, and sometimes due to joint anomalies.
Social development varies. Many parents write of their children being very loving, hugging everyone, striking up conversations with anyone who'll listen. Others have autistic tendencies, are not very social, and have behavioral issues. Often the children do not have a good understanding of what's socially acceptable - for instance we're still reminding older children to close bathroom doors when in public restrooms. It seems they take language very literally and don't notice the visual cues we often use when speaking - sarcasm, facial expressions, etc.