1. Introduction
Kabuki syndrome is a rare genetic disease reported by Kuroki et al. and
Niikawa et al.1, 2 The frequency of the disease is
estimated to be 1 in 34,000 people.3 The disease was
defined as a malformation syndrome and reported five major symptoms: (1)
characteristic facial features, (2) skeletal malformations, (3)
dermatoglyphic abnormalities (various patterns on the surface of the
skin), (4) mild to moderate intellectual disability, and (5) growth
deficiency after birth. A majority of patients have pathogenic variant
in KMT2D or KDM6A genes. However, there are a substantial
number of patients who do not show pathogenic mutations in KMT2Dor KDM6A . 4-6 A recent international consensus
proposed that a definitive diagnosis can be made based on a history of
infantile hypotonia, developmental delay, and/or intellectual disability
and typical dysmorphic features and/or pathogenetic variant inKMT2D or KDM6A .4
Most cases are characterized by mild to moderate intellectual
disability, and a few patients have severe
disabilities.7, 8 There are several case reports of
patients with Kabuki syndrome who exhibit features suggestive of autism
spectrum disorders (ASD).9-12 ASD is primarily
characterized by persistent deficits in social interaction and
communication with others. Impairment in such abilities often leads to
difficulties in development of interpersonal relationships. Therefore,
development in communication with other people and experiencing support
through interaction with others is an important issue. Generally, social
communication was not impaired in most children and adolescents with
Kabuki syndrome, although some patients had poor eye-contact and
repetitive behavior.13, 14 Such characteristics may
differ from the typical behavior profile of ASD patients. In addition,
insufficient information is currently available for psychological
treatment for this specific population.15
There are several psychological treatments for children with ASD, such
as social skills training. In Japan, interventions using Dohsa-hou have
been implemented for children with ASD. Dohsa-hou is a psychotherapeutic
approach developed in Japan,16-18 which focuses on
body movement and psychomotor experience in
individuals.19-21 There are several case reports
presenting Dohsa-hou practice for children with ASD.22, 23 In addition, Morisaki suggested three
therapeutic goals in interacting with children with ASD through
Dohsa-hou: experiencing relaxation, self-regulation of behavior, and
sharing intention with others and realizing the presence of others.24 Joint attention and the sharing of intentions with
others are essential aspects of development in social functioning and
interaction in play among children. In addition, various studies have
focused on the role of joint attention in the development of
relationships with others. Joint attention is established through the
interaction between the child and others and between the child and
objects (such as toys) in a binary relationship, followed by the
interaction between the child, objects, and others in a triadic
relationship. 25 This behavior is essential for the
development of shared intentions to notice what others are paying
attention to and has been focused on as a milestone of communication
development necessary for subsequent social interaction
skills.26, 27
As suggested in the literature, such an interaction can lead to the
development of social relationships and joint attention through the
experience of sharing intention with body and movement, even with
children in the pre-verbal stage. Currently, there is limited literature
regarding psychotherapeutic interventions for children with Kabuki
syndrome.15 However, previous reports related to
autistic disorders in other populations may inform treatment
considerations in Kabuki syndrome. Here, we report on a case study of a
child with Kabuki syndrome and ASD, in which the changes in the child’s
behavior were examined through the intervention of Dohsa-hou.