, Volume 38, Issue 1, pp 198-201

Case Report: Autistic Disorder in Kabuki Syndrome

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Introduction

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).