AUTISM SPECTRUM DISORDER AND GENETIC ASSOCIATIONS IN A TERTIARY PRIVATE HOSPITAL IN NORTHERN MEXICO
José Antonio Infante Cantú, Sofía Lucila Rodríguez Rivera, Pediatric Neurologist- General Medicine
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Background: Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic neurobehavioral disorders associated with developmental impairments in social communication skills and stereotypic, rigid or repetitive behaviors. Aims: To review behavioral, psychiatric and genetic associations related to ASD. Methods: Descriptive, prospective, observational and longitudinal study. Inclusion criteria were patients with ASD from July 2022-July 2023 in a tertiary private hospital. Study variables were age, gender, clinical features, level of autism, type of epilepsy, comorbidities, genetic syndromes, epileptic syndromes and type of treatment. Information was captured in Excel and analyzed in SPSS. Results: We review 36 patients with ASD from July 2022-July 2023. Age: 2-31, 10±24.7. Clinical features: self -injurious behaviors 40%, aggression 35%, sleep disorders 25%. Levels of autism 1 (17- 47.2%), 2 (12- 33.3%) and 3 (7- 19.4%). Comorbidities 27 (75%): intellectual disability 15 (41.6%), attention decit hyperactivity disorder (ADHD) 2 (5.5%), Tourette's syndrome 1 (2.7%), global developmental delay 3 (8.3%), developmental language disorder 4 (11.1%), cerebral palsy 1 (2.7%), migraine 1 (2.7%). Genetic syndromes 12 (33.3%): Prader Willli, Angelman, Lafora, Down, Noonan, Usher, fragile X, lissencephaly, callosum corpus dysgenesia, neurobromatosis, tuberous sclerosis, Type II Chiari malformation. Epileptics syndromes 4 (11.1%): West 1 (2.7%), Lennox Gastaut 1 (2.7%), atypical absences 2 (5.5%). Association was found between severe autism and genetic syndromes with statistical signicance (p<0.05). Conclusion: Autism characteristics in genetic syndromes demand attention across time and circumstance, to evidence and support related changes in need.