The spectrum of characteristics associated with Kabuki syndrome is certainly varied. As with any newly described syndrome it is, at first, difficult to know if certain presenting characteristics are typical of the syndrome or simply typical for that individual.
It has become increasingly obvious as time passes, and more and more families write of their child's behaviors, that many individuals with Kabuki display autistic-type behaviors. This observation is not solely as the result of surveys or studies but from the many letters from families to Kabuki Syndrome Network and the Kabuki email mailing list.
What is autism?
Autism is a spectrum disorder. This means the symptoms and characteristics can present themselves in a wide range of combinations and from mild to severe. (Sounds like Kabuki!) In other words, two children with the same diagnosis can be very different from each other and have varying abilities/disabilities. Autism is a combination of several developmental challenges. According to the Autism Society of America, the following areas are among those that may be affected:
Communication - language develops slowly or not at all; uses words without attaching the usual meaning to them; communicates with gestures instead of words; short attention span
Social Interaction - spends time alone rather than with others; shows little interest in making friends; less responsive to social cues such as eye contact or smiles
Sensory Impairment - may have sensitivities in the areas of sight, hearing, touch, smell, and taste to a greater or lesser degree
Play - lack of spontaneous or imaginative play; does not imitate others' actions; does not initiate pretend games
Behaviors - may be overactive or very passive; throws tantrums for no apparent reason; perseverates (shows an obsessive interest in a single item, idea, activity or person); apparent lack of common sense; may show aggression to others or self; often has difficulty with changes in routine
Behaviors often associated with our children
Communication - almost all families report language delays
Social Interaction - some report their child being very social, others report child having little interest in friendships, preferring to play alone, often able to speak more freely with adults than peers
- poor eye contact (50% according to survey done by KSN)
-poor at understanding the unspoken "rules" of socialization
-don't understand the give-and-take of a conversation or how to end one
-very literal thinkers, unable to think abstractly
-unable to 'read between the lines'
Sensory Impairment - oversensitive to touch (such as playdough, walking barefoot)
- oversensitive to loud noises
- oversensitive to smell (cooking smells, etc)
- oversensitive to visual stimuli
- oversensitive to food tastes and textures (often causing gagging)
- self-stimulatory behaviors such as hand flapping, head shaking, rocking, repeating phrases over and over (over 50% according to survey done by KSN)
- self injuring behaviors such as biting self and head banging
- very oral, chewing on non-food items (over 60% according to survey done by KSN)
Play - some do not seek out friendships, preferring to play alone or with adults
- others seek friendships but prefer younger children
- many like to play the same thing or watch the same videos over and over
Behaviors - extreme need to know what to expect throughout the day and exact schedule of events (about 60% according to survey done by KSN)
- repeating of questions over and over
- difficulty waiting
- interrupting often
- talking to self (about 60% according to survey done by KSN)
What does this mean for our children?
It is important to know that developmental delay in general can be accompanied by several types of symptoms and behaviors that one sees with autism (speech and language delay, self-stimulatory behaviors, social impairment, inappropriate behavior). It is true that autism is more easily recognized today and if a child fits into a set of criterion, a diagnosis of autism may come about. This is not to say that the autistic diagnosis is permanent or that it conflicts with the Kabuki diagnosis. With skill development and ongoing intervention, a child may mature and gain ground in an area so that they no longer 'fit' into the autism heading. The fact that our children have Kabuki syndrome is the reason they are demonstrating autistic-like tendencies in the first place. Autism is not necessarily a separate label. More than likely, ALL of our children at some point or other are demonstrating behaviors that could be considered autistic-like. Whether our children have been given an autism label or not, the types of therapy and intervention that we would seek to assist with their areas of need are the same. Many autism treatment approaches are very beneficial for all children facing issues in any of these functional areas.