743. Co-existence of Autism Spectrum Disorder and Kabuki Syndrome in a 12-year-old boy with impaired behavior: A case report

Abstract

Abstract Background Kabuki syndrome (KS) is a multiple malformation syndrome characterized by distinctive facial features (long palpebral fissures; eversion of the lower lateral eyelid; arched eyebrows with sparse or dispersed lateral one-third; depressed nasal tip; and large, prominent ears), intellectual disability, and postnatal growth deficiency. This condition is caused by pathogenic mutations in either KMT2D (autosomal dominant) or KMD6A (X-linked dominant) and generally occurs as a de novo mutation. To date, KS has been diagnosed only in 350 patients worldwide. The prevalence of Autism Spectrum Disorder (ASD) has been reported to be 1 in 88 individuals. In the literature, there are a few studies reporting patients having KS with ASD. The random comorbidity of these two disorders in our patient was thought to be interesting in terms of possible common etiologic features and gene association. Aims & Objectives - To report a rare case of co-occurrence of Kabuki syndrome and Autism Spectrum Disorder in a 12-year-old boy with severe behavioral and neurodevelopmental impairment. -To discuss the potential shared genetic and etiological mechanisms between Kabuki syndrome and Autism Spectrum Disorder, and to highlight the importance of early multidisciplinary assessment in such complex neurodevelopmental disorders. Method: Descriptive study of a clinical case Our patient is a 12-year-old boy, was brought by his mother in 2023, with complaints of no speech, hyperactivity, temper tantrums, self-injury, and impaired social interaction. He is originally from Errachidia in the south-eastern region of Morocco. He is born to first-degree consanguineous parents. The pregnancy was well followed with no complications. Delivery was a medically assisted vaginal birth, with a birth weight of 3000 g and a history of delayed crying at birth. Psychomotor development was marked by a delay in the acquisition of walking and language. Results We determined the lack of speech and eye contact, stereotypical behavior, and impaired social interaction and diagnosed him with autism, severe mental retardation, attention-deficit/hyperactivity disorder (ADHD) via a psychiatric assessment. In addition to a kabuki syndrome and idiopathic generalized epilepsy, that were diagnosed in the pediatrician department. The patient presents an uncertain significance variant on YWHAG that could be related to his clinical phenotype. Discussion & Conclusions Our case is a new example of the coexistence of KS and ASD in addition to the very few cases in the literature, and that could provide opportunities for understanding the genetic etiology of ASD and new scope in terms of novel treatment approaches.