- Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil. [Multicenter Study]
- GMGenet Mol Res 2015 Jun 18; 14(2):6897-905
- The objective of this study was to perform a study of fragile X syndrome (FXS) in São Luís, Maranhão, in males residing in five specialized institutions. Two hundred thirty-eight males with intel-lec…
The objective of this study was to perform a study of fragile X syndrome (FXS) in São Luís, Maranhão, in males residing in five specialized institutions. Two hundred thirty-eight males with intel-lectual disability of unknown etiology participated in this study. Blood samples were processed and stored until DNA extraction. Screening for FMR1 gene mutations was performed using non-isotopic polymerase chain reaction amplification and DNA sequencing using an ABI Prism 3130 automated sequencer. Two individuals (0.84%) were positive for FMR1 mutations. One had a mutation due to expansion of the CGG repeat beyond normal levels and the other had a deletion in exon 1 of the FMR1 gene, which was confirmed by sequencing. Both probands were over 18 years old, which demonstrates the late diagnosis of the condition in these individuals and reinforces the need to implement ef-fective programs for early diagnosis of FXS in the state of Maranhão. We found that FXS might be transmitted in the families of the two indi-viduals bearing the mutation, and that it is important to understand the mutation dynamics to provide better counseling to the family members of these two individuals.
- Attachment in adults with intellectual disabilities: preliminary investigation of the psychometric properties of the manchester attachment scale-third party observational measure. [Journal Article]
- JAJ Appl Res Intellect Disabil 2014; 27(5):458-70
- CONCLUSIONS: Support was provided for the reliability and validity of the MAST and a relationship between attachment security, level of intellectual disability and CB. The results of the study and implications of attachment theory for service provision are discussed.
- VARIABLES ASSOCIATED WITH SOCIAL CLASS DIFFERENCES IN THE INTELLIGENCE OF YOUNG CHILDREN. [Journal Article]
- MBMultivariate Behav Res 1973 Jan 01; 8(2):213-26
- Although disagreement still exists over the relative contribu- tions to intelligence of heredity and environment, must authors agree that the mode of action of the latter and the interaction be- twee…
Although disagreement still exists over the relative contribu- tions to intelligence of heredity and environment, must authors agree that the mode of action of the latter and the interaction be- tween them are more important research issues than the question of which predominates. It is scarcely disputed that the influence of the physical and social environment is important. The means by which its influence is accomplished needs considerable clarifica- tion if remedial efforts, short of the complete abolition of social inequality, are to be effective. Hunt (1961) and Anashsi (1965) have bobh argued persuasively that efforts to resolve the nature- nurture conflict are less useful than are efforts to determine the mediators of the effect of the child's environment upon his intel- lectual development.
- [Lectual mania]. [Journal Article]
- AMAnn Med Psychol (Paris) 1959; 117(2):469-90