International Meeting for Autism Research: Medical Conditions and Neurogenetic Syndromes IN Venezuelan Children with ASD

Medical Conditions and Neurogenetic Syndromes IN Venezuelan Children with ASD

Friday, May 13, 2011
Elizabeth Ballroom E-F and Lirenta Foyer Level 2 (Manchester Grand Hyatt)
1:00 PM
C. Montiel-Nava1, J. Pena2 and J. A. Chacin3, (1)La Universidad del Zulia, Maracaibo, Venezuela, (2)Pediatrics, La Universidad del Zulia, Maracaibo, Venezuela, (3)Genetics, La Universidad del Zulia, Maracaibo, Venezuela

It has been established by different studies that additional medical problems are often present in children with Autism Spectrum Disorders (ASD). ASD could also be part of wider neurogenetic entities such as fragile X syndrome, tuberous sclerosis complex, among others.  There are few studies that have examined the distribution and frequency of neurogenetic syndromes and medical condition in Hispanic children.


This study aims to investigate the medical conditions and neurogenetic syndromes in Venezuelan  children with ASD attending an outpatient pediatric facility.


154 children with ages aged 3 through 7 with a confirmed diagnosis of autism spectrum disorders, 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, and a skin examination by Wood’s lamp for signs of tuberous sclerosis.  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. 


36 of the children with ASD (23.38%) also had another medical condition. These entities included Fragile-X (3 children, all boys), epilepsy (19 children), tuberous sclerosis complex (2 children), blindness (2 children), Williams syndrome (1 children), Sotos syndrome (1 children), LHON  (1 children), Warbenburg syndrome (1 children),  Down syndrome (3 children), and other genetic syndromes (3 children).  All the genetic syndromes were present in the autism group, while the epilepsy was more frequent in the PDD group. There were no cases of epilepsy or genetic syndromes in the Asperger´s syndrome children. The medical and genetic conditions were more prevalent in males than females.

In this study, 23.38% of the children had an additional medical condition. 13.34% of the autistic children also had a diagnosis of epilepsy.  Rates of epilepsy are high in autistic samples, with higher rates in those samples with lower cognitive functioning.  However, being our sample of younger children and due to the increased incidence of seizures during adolescence among autistic individuals, these proportions should be regarded as underestimation of the lifetime risk of epilepsy in autism.   Fragile X has also been reported to be prevalent among autistic individuals, and we found that 1.94% of our children with autism also have this genetic abnormality. The rate of 1.29% of autistic children with associated TS is close to the 1% rate reported by other studies.


Results of this study reveal once again the association between some medical conditions and ASD. The findings suggest the need to be vigilant about the possible development of comorbid medical and neurogenetic conditions in children with ASD. Our results imply that for children seen in outpatient pediatric settings in Venezuela,  comorbid neurogenetic conditions are an expected occurrence.

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