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.