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Prevalence and Demographic Characteristics of Children with ASD in A Venezuelan Population

Thursday, 2 May 2013: 09:00-13:00
Banquet Hall (Kursaal Centre)
J. A. Chacin1, E. Medrano2, Z. Gonzalez3, V. Toledo3, E. Solís4, A. Costagliola5 and C. Montiel-Nava6, (1)Human Genetic, La Universidad del Zulia, Maracaibo, Venezuela, (2)Pediatric Neurology, Hospital de Especialidades Pediátricas, Maracaibo, Venezuela, (3)Human Genetic, Hospital de Especialidades Pediátricas, Maracaibo, Venezuela, (4)Human Genetics, La Universidad del Zulia, Maracaibo, Venezuela, (5)Epidemiology, La Universidad del Zulia, Maracaibo, Venezuela, (6)La Universidad del Zulia, Maracaibo, Venezuela

Autism is a complex neurodevelopment disorder characterized by deficits in social, language and repetitive behaviors with restricted interests. Recent studies indicate that 1 in 88 individuals have autism. The etiology of autism is unknown, but is considered the most genetic neurodevelopment disorders. Clinical heterogeneity is one reason that difficult to find genes responsible for autism and one of the ways to achieve dimensions is established

Objectives:  The aim of this study is to determine demographics characteristics of a population affected with autism spectrum disorder of Maracaibo.

Methods:  the sample was constituted for children who attended the human genetic clinic and were  born between the years 2000-2004, and at the time of assessment were residents of Maracaibo county; and had a confirmed diagnosis of autism spectrum disorders All children underwent a neurogenetic evaluation to identify medical conditions and/ or genetic syndromes comorbid to the ASD. In order to identify dysmorphic features, neurological abnormalities, and signs of neurocutaneous disorders, a translation of the neurogenetic evaluation form used for AGRE was used. Each child had a complete physical examination, including a neurological examination, an assessment for dsymorphic features, overt physical abnormalities, neurological or motor abnormalities. Karyotyping was performed, and also tests for other genetic syndromes (including Fragile X). During the interviews a detailed medical and developmental history was also obtained, which questioned specifically for non-psychiatric medical illnesses, neurological disorders, medications taken, and treatment responses.

Results:  A total of 148 patients were studied, which is equivalent to a frequency of 1 case per 1000 live births. 111 (75%) were male and 37 (25%) female. 136 (91.89%) patients had idiopathic disorder, while 12 (8.10%) had an associated genetic syndrome. The 3 most frequent reasons for consultation were: low social interaction 131 (88.51%), language disorder 140 (94.59%) and stereotyped movements 93 (62.83). The average age of parents at the time of conception was 33 years and mothers 29 years. 85 patients (57.43%) had a family history of related diseases. Risk factors identified in this sample are age and parental, location in the number of pregnancies and history of affected relatives.


The estimation of the frequency of ASD in Maracaibo County of 1 child per 1000 live birth might be an underestimation, and a function of the ascertainment process used in this study; since it is a clinical sample. However, results are similar to those reported in other epidemiological studies from other countries.  These results are an important contribution to the literature of ASD in Hispanic populations.

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