The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 years

ObjectiveChildren with epilepsy attending a condition-specific overnight camp were evaluated for behavioral changes over 3 consecutive years, using a modification of the Vineland Adaptive Behavioral Scale.MethodsTrained counselors completed pre- and postcamp assessments for each camper. Repeated-measures MANOVA was used to analyze effects of the camp experience for each year, with respect to gender and age. Repeated-measures ANOVA was conducted to evaluate long-term effects from year-to-year comparisons for return campers, following three successive camp experiences.ResultsA significant change in social interaction was observed over 3 years. Despite some decline at the start of camp in consecutive years, the overall trend for return campers suggests a positive cumulative impact of continued camp participation, with improvements in the domains of social interaction, responsibility, and communication.ConclusionA condition-specific camp designed for children with epilepsy can improve adaptive behaviors and social interactions. Overall net gains appear to increase over time, suggesting additional benefits for return campers.     

Expression of imprinted genes in human preimplantation development

Imprinted gene expression in preimplantation development has been extensively studied in the mouse. Different imprinted genes vary in their time of onset of expression and also in the timing and tissue-specificity of mono-allelic expression. We have surveyed a range of imprinted genes for expression, and mono-allelic expression, in human development. Due to the scarcity of human embryos available for research, we first prepared amplified cDNA from replicate samples of human oocytes, four-cell, eight-cell and blastocyst stages. We then analysed these cDNAs for expression of a range of imprinted genes. Three of six genes analysed (SNRPN, PEG1 and UBE3A) are clearly expressed in preimplantation embryos. Expression was confirmed by direct analysis of embryos for these genes. For one of the expressed genes, SNRPN, we have shown that expression is mono-allelic from the paternal allele in human preimplantation embryos. This gene is also mono-allelically expressed in mouse preimplantation embryos. In our earlier work, we investigated the molecular mechanisms governing mono-allelic expression of the paternal allele of the Xist gene in preimplantation mouse embryos. We found that mono-allelic expression was correlated with differential methylation of Xist promoter sites in egg and sperm, and specific binding of a protein only to the methylated maternal (egg) allele. However, extension of these studies to the human showed that, unlike the mouse, XIST is expressed from both parental alleles in human preimplantation embryos. Since perturbation of imprinting is associated with disease and tumourigenesis, it is important to know the expression profiles of imprinted genes in human embryos and to monitor for normal imprinted gene expression with the introduction of new procedures in assisted conception.     

Expression of a testis-specific member of the olfactory receptor gene family in human primordial germ cells

Olfactory receptors are G protein-coupled transmembrane receptors. Genes encoding olfactory receptors constitute a large gene family of approximately 1000 total member genes. In mammals, a subset of member genes is specifically expressed in the testis (and not in the olfactory mucosa) and olfactory receptor proteins have been identified in elongated spermatids and mature spermatozoa of dogs. It is postulated that olfactory receptors may recognize signal molecules present in the female genital tract and play a role in chemotaxis of spermatozoa towards the oocyte. In a previous study, we identified 10 cDNA sequences, corresponding to genes specifically expressed in human primordial germ cells (PGC), by differential display. Sequence analysis revealed that one of these sequences appeared to be a member of the olfactory receptor gene family. To investigate this further, we have used degenerate oligonucleotide primers corresponding to conserved amino acid sequences of olfactory receptor proteins to amplify all the olfactory receptor genes expressed in the PGC. Sequence analysis of a total of 30 cloned sequences disclosed that one member gene, which was previously isolated from a human testis cDNA library by others, was also preferentially expressed in our PGC. Our results suggest that specific members of the olfactory receptor gene family may have a function in germ cells in the migratory phase of their life cycle.