Neurological Summary

 LehmanIntellectual:  Most individuals with Kabuki Syndrome have mild to moderate intellectual disability, with a small percentage falling in the severe range. Limited research exists on specific developmental outcomes, however one study dedicated specifically to intellectual and adaptive behaviors identified a clear pattern of weakness in visuospatial constructioni and relative strength in verbal and non-verbal reasoning. Another published article, describing the long-term follow-up of three individuals, found that although they were able to achieve independent daily living skills and hold part-time jobs, they required sheltered living environments.

While some level of intellectual disability is common among individuals with Kabuki Syndrome, parents can continue to have high expectations for their affected children. Children with Kabuki syndrome can be helped to achieve their own highest potential through early intervention and therapy. Additionally, appropriate long-term planning for transition to adulthood and independence is essential.

Neurological:  Various neurological issues exist among individuals with Kabuki Syndrome. Most common is hypotonia which can hamper motor development and feeding. Studies do show that hypotonia can improve with age. Other neurological abnormalities include microcephalyi and seizures. There does not appear to be any one type of seizure associated with KS, although the majority have localization-related epilepsy. The age of onset can range from infancy to middle childhood.