RESUMEN
In a sporadic case of autism and language deficit due to auditory processing defects, molecular genetic studies revealed that a chromosomal deletion occurred in the 13q12-->q13 region. No chromosome abnormalities were detected in the parents. We determined that the deletion occurred on the paternally derived chromosome 13. There are two previous reports of chromosome 13 abnormalities in patients with autism. The deletion in the subject described in this paper maps between the two chromosome 13 linkage peaks described by Bradford et al. (2001) in studies of subjects with autism and language deficits. The 9-Mb region deleted in the patient described here contains at least four genes that are expressed in brain and that play a role in brain development. They are NBEA, MAB21L1, DCAMKL1 and MADH9. These genes therefore represent candidate genes for autism and specific language deficits.
Asunto(s)
Trastorno Autístico/genética , Aberraciones Cromosómicas , Cromosomas Humanos Par 13 , Trastornos de la Audición/genética , Percepción del Habla , Preescolar , Mapeo Cromosómico , Ligamiento Genético , Humanos , Hibridación Fluorescente in Situ , Trastornos del Lenguaje/genética , MasculinoRESUMEN
OBJECTIVE: To examine the efficacy of intravenous porcine secretin for the treatment of autistic disorder. METHOD: Randomized, double-blind, placebo-controlled, crossover design. Fifty-six subjects with autistic disorder received either a secretin or placebo infusion at baseline and the other substance at week 4. Subjects were given the Autism Diagnostic Observation Schedule (ADOS) and other pertinent developmental measures at baseline and at weeks 4 and 8 to assess drug effects. RESULTS: For the primary efficacy analysis, change of ADOS social-communication total score from week 0 to week 4, no statistically significant difference was obtained between placebo (-0.8 +/- 2.9) and secretin groups (-0.6 +/- 1.4; t54 = 0.346, p < .73). The other measures showed no treatment effect for secretin compared with placebo. CONCLUSION: There was no evidence for efficacy of secretin in this randomized, placebo-controlled, double-blind trial.
Asunto(s)
Trastorno Autístico/tratamiento farmacológico , Secretina/administración & dosificación , Trastorno Autístico/diagnóstico , Trastorno Autístico/psicología , Niño , Preescolar , Estudios Cruzados , Método Doble Ciego , Femenino , Humanos , Lactante , Infusiones Intravenosas , Masculino , Determinación de la Personalidad , Secretina/efectos adversosRESUMEN
This study examined age differences in autobiographical memory and extended findings concerning hypermnesia in laboratory tasks to a real world event, the announcement of the verdict in the O. J. Simpson murder trial. Older and younger adults repeatedly recalled the event in a single session. Interviews were coded for amount and type of accurate information and for errors. The age groups did not differ in ability to recall the gist of the event or in the number of errors made. Younger adults were better at remembering when the event had occurred. Both age groups showed hypermnesia. The results are discussed in terms of the importance of autobiographical memory across the life span and the phenomenon of hypermnesia in everyday memory.
