Kabuki syndrome: diagnostic and treatment considerations.

TitleKabuki syndrome: diagnostic and treatment considerations.
Publication TypeJournal Article
Year of Publication2012
AuthorsKasdon BD, Fox JE
JournalMent Health Fam Med
Date Published2012 Sep

Kabuki syndrome (KS) is a rare genetic disorder first diagnosed in 1981. Unknown by most primary care physicians and clinicians in the mental health fields, children with KS present with unique facial characteristics, mental retardation, health problems and socio-emotional delays that are often mistaken for other diagnostic problems. Literature detailing the psychological and psychosocial features of this disorder is scant, and psychotherapeutic approaches have not been described. In this article, we present a case description and treatment of a child with KS and her family. A brief review of KS is then provided, highlighting its signs and symptoms. Factors related to differential diagnoses are identified to aid primary care and mental health clinicians in better understanding this unique syndrome. Interventions with similar populations are discussed from which a psychological approach to KS is suggested. Finally, implications for primary care physicians are described and suggestions for further research indicated.

Alternate JournalMent Health Fam Med
Citation Key1411
PubMed ID23997823