2.1 History
At the beginning of the intervention, Sara was 7 years and 8 months old,
and in the second grade of a special education school. When she was 3
years old, Kabuki syndrome was suspected based on the clinical signs,
and she underwent genetic testing for KMT2D and KDM6Amutations, but no pathogenic mutations were detected by sequencing.
Based on clinical manifestations and typical dysmorphic features of
Kabuki syndrome, she was diagnosed with Kabuki syndrome, based on its
cardinal features of the disorder.
Sara had severe intellectual disability and ASD, and her intellectual
functioning was assessed using the Enjoji-developmental
scale28 as severe intellectual delay (Developmental
quotient=22). The subdomains were as follows: motor domain 36, social
14, and language 17. She was nonverbal, and she could not pay attention
to the objects only with verbal instructions. She had been receiving
physical and occupational therapies once or twice a month at a medical
center from 8 months to 6 years and 7 months.