This article details the clinical presentation of children with Kabuki syndrome (KS) and psychological treatment considerations. A case example is first presented to illustrate the psychological issues associated with this disorder, including developmental disability, chronic physical illness and socioemotional problems. An intervention approach aimed at assisting both this child and family is described. While no psychotherapeutic approach to KS has appeared in the literature, interventions often applied to related disorders may inform one. The treatment literature dealing with developmental disability, chronic physical illness and socioemotional problems are particularly useful in this regard and are described.
The genetic basis for KS and its discovery are then presented with detailed information regarding the specifics of its clinical presentation. Information regarding differential diagnoses is examined to aid primary care and mental health providers in detection and referral for mental healthcare for those presenting with this rare condition. Interventions applied to related disorders are presented to assist mental health professionals in flexibly addressing the psychological manifestations of KS. The implications of this information for primary care physicians is then discussed and suggestions for future research are offered to determine best practices in the diagnosis and treatment of KS.