title: Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases.
abstract: Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a rare genetic disorder first diagnosed in 1981. Kabuki make-up syndrome (KMS) is a multiple malformation/intellectual disability syndrome that was first described in Japan but is now reported in many other ethnic groups. KMS is characterized by multiple congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; intellectual disability; and short stature. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. The KS is associated with mutations in the MLL2 gene in some cases were also observed deletions of KDM6A. This study describes three children with autism spectrum disorders (ASDs) and KS and rehabilitative intervention that must be implemented.
authors.affiliation: Department of Psychological Sciences, Pedagogical and Educational (SPPF), University of Palermo, Palermo, Italy - michele.roccella@unipa.it.
authors.forename: L
authors.initials: L
authors.lastname: Parisi
authors.forename: T
authors.initials: T
authors.lastname: Di Filippo
authors.forename: M
authors.initials: M
authors.lastname: Roccella
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D000067877:Autism Spectrum Disorder / Q000175:diagnosis / Q000209:etiology* / Q000534:rehabilitation; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics; D005145:Face / Q000002:abnormalities* / Q000503:physiopathology; D005260:Female; D017353:Gene Deletion; D006402:Hematologic Diseases / Q000235:genetics / Q000503:physiopathology*; D056466:Histone Demethylases / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D015837:Vestibular Diseases / Q000235:genetics / Q000503:physiopathology*
chemical_list: D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D056466:Histone Demethylases; C523998:KDM6A protein, human