Case Report: Autistic Disorder in Kabuki Syndrome

Abstract

The autism is a neurodevelopmental disorder of which the diagnosis depends on a ‘triad’ of deficits comprising impaired social interaction, impaired communication and restricted interests and repetitive behaviors. Hyperlexia is a syndrome observed in children who have the following characteristics: A precocious ability to read words, far above what would be expected at their chronological age or an intense fascination with letters or numbers, significant difficulty in understanding verbal language, abnormal social skills, and difficulty in socializing and interacting appropriately with people. In 1981, Niikawa and Kuroki described a group of patients who had characteristic facial features, skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. Since, their facial features resembled the make-up actors in Kabuki, the traditional Japanese play, the term ‘Kabuki make-up syndrome’ was suggested (Niikawa and Matsuura 1981; Kuroki et al. 1981). Several patients with Kabuki Syndrome have been found to have autism or autistic-like behavior, with difficulties in both communication and peer interactions (Adam and Hudgins 2005; Ho and Eaves 1997). There exists no clinically available genetic test to confirm the diagnosis. However, five principal displays were defined; ‘Peculiar face’ in 100% of their patients, skeletal anomalies in 92% of their patients, dermatoglyphic abnormalities in 93% of their patients, mild to moderate mental retardation in 92% of their patients, postnatal growth deficiency in 83% of their patients (Adam and Hudgins 2005). In this report, there are some unreported situations for KS with autism, like the pregnancy is occurred by in-vitrofertilization, high-rated IQ and hyperlexia. Because of these situations is different in literature we would like to report and discuss this case.