RESUMEN
Previous research indicates that infection, especially from viruses in the family Herpesviridae, may play a role in the etiology of some cases of autism spectrum disorder (ASD). Using a case-control design and the polymerase chain reaction with site-specific primers, we screened newborn and childhood blood samples for the presence of eight human herpesviruses. Herpesvirus DNA was detected in 4 of 225 ASD individuals and 2 of 235 controls, with the most frequently detected virus being HHV-6B. Although this study does not detect a significant ASD-Herpesviridae association, it is limited by the use of site-specific primers. We suggest that new techniques using bioinformatics to search next-generation sequencing databases will be more revealing of possible ASD-virus associations.
Asunto(s)
Trastorno del Espectro Autista/virología , Infecciones por Herpesviridae/epidemiología , Técnicas de Diagnóstico Molecular/estadística & datos numéricos , Trastorno del Espectro Autista/sangre , Trastorno del Espectro Autista/epidemiología , Estudios de Casos y Controles , Niño , Femenino , Infecciones por Herpesviridae/sangre , HumanosRESUMEN
BACKGROUND: Research indicates that the etiology of autism has a strong genetic component, yet so far the search for genes that contribute to the disorder, including several whole genome scans, has led to few consistent findings. However, three studies indicate that the complement C4B gene null allele (i.e. the missing or nonfunctional C4B gene) is significantly more frequent in individuals with autism. Due to the close proximity of the CYP21A2 gene to the C4B locus (3 kb) it was decided to examine samples from autistic subjects, including many with known C4B null alleles for common CYP21A2 mutations. METHODS: Samples from subjects diagnosed with autism and non-autistic controls (controls) previously typed for C4B null alleles were studied. Allele specific polymerase chain reaction (PCR) methods were used to determine 8 of the most common CYP21A2 genetic mutations, known to completely or partially inhibit 21-hydroxylase, the enzyme encoded by the CYP21A2 gene. RESULTS: Although the combined autism and control study subjects had 50 C4B null alleles only 15 CYP21A2 mutations were detected in over 2250 genotypes. Eight mutations were detected in the autistic samples and 7 in the controls. The frequency of CYP21A2 mutations was similar between the autism and control samples. Only one individual (autistic) carried a chromosome containing both C4B null allele and CYP21A2 mutations.
Asunto(s)
Alelos , Trastorno Autístico/genética , Complemento C4b/genética , Predisposición Genética a la Enfermedad , Polimorfismo Genético , Esteroide 21-Hidroxilasa/genética , Trastorno Autístico/diagnóstico , Trastorno Autístico/enzimología , Estudios de Casos y Controles , Complemento C4b/deficiencia , Femenino , Ligamiento Genético , Genotipo , Humanos , Masculino , Eliminación de SecuenciaRESUMEN
The effect that treatment with stimulant medication has on the intellectual performance of children with attention deficit hyperactivity disorder (ADHD) was examined. Thirty-one children diagnosed with ADHD were given a WISC-III before any treatment was implemented. At least 1 year later, children were retested. At this time, 24 of the children were taking stimulant medications. Children receiving medications had significant increases in IQ scores, but no changes were found for those not taking medications. Changes in IQ scores were moderately related to parents' perceived efficacy of the medication and parent-reported compliance with medication but were not strongly related to changes in parent-reported ADHD symptoms.