ABSTRACT
Prader Willi and Angelman syndromes are clinically distinct genetic disorders both mapping to chromosome region 15q11-q13, which are caused by a loss of function of paternally or maternally inherited genes in the region, respectively. With clinical diagnosis often being difficult, particularly in infancy, confirmatory genetic diagnosis is essential to enable clinical intervention. However, the latter is challenged by the complex genetics behind both disorders and the unmet need for characterised reference materials to aid accurate molecular diagnosis. With this in mind, a panel of six genotyping reference materials for Prader Willi and Angelman syndromes was developed, which should be stable for many years and available to all diagnostic laboratories. The panel comprises three Prader Willi syndrome materials (two with different paternal deletions, and one with maternal uniparental disomy (UPD)) and three Angelman syndrome materials (one with a maternal deletion, one with paternal UPD or an epigenetic imprinting centre defect, and one with a UBE3A point mutation). Genomic DNA was bulk-extracted from Epstein-Barr virus-transformed lymphoblastoid cell lines established from consenting patients, and freeze-dried as aliquots in glass ampoules. In total, 37 laboratories from 26 countries participated in a collaborative study to assess the suitability of the panel. Participants evaluated the blinded, triplicate materials using their routine diagnostic methods against in-house controls or externally sourced uncertified reference materials. The panel was established by the Expert Committee on Biological Standardization of the World Health Organization as the first International Genetic Reference Panel for Prader Willi and Angelman syndromes.
Subject(s)
Angelman Syndrome/diagnosis , Angelman Syndrome/genetics , Molecular Diagnostic Techniques/standards , Prader-Willi Syndrome/diagnosis , Prader-Willi Syndrome/genetics , Cell Line, Transformed , Female , Humans , Male , Ubiquitin-Protein Ligases/genetics , World Health OrganizationABSTRACT
Research on adult populations has shown individuals are faster at processing information, i.e., have faster reaction times, from compatible as compared to incompatible assignments. Additionally, research has shown that reaction times decrease when advanced information, i.e., a precue, is provided to the subject. The present study examined whether children would exhibit results similar to those of adults. Subjects were 18 fourth graders (M age 9 yr.) who responded to compatible and incompatible assignments across four precue intervals (0-no precue, 1500, 3000, and 4500 msec.) Analysis of the data indicated that similar to adults, children had faster reaction times to compatible (667 msec., SD=176) than to incompatible assignments (798 msec., SD=218). Results also indicated that as the precue interval increased, reaction times decreased (885, 711, 679, and 660 msec. for the 0-no precue, 1500-, 3000-, and 4500-msec intervals, respectively). These findings suggest that children exhibit typical compatibility effects and are capable of processing advanced information to enhance motor performance.
Subject(s)
Cues , Reaction Time , Space Perception , Spatial Behavior , Child , Humans , SemanticsABSTRACT
This investigation was designed to assess sex-role stereotyping across age groups. Participants (N=668) were girls and boys, students from Grades 3, 5, 8, and 10 at local public schools. All participants completed the Sport and Physical Activities Questionnaire on which were displayed pictures of 31 sport and physical activities. Participants were instructed to designate each activity as a boys' activity, a girls' activity, or a boys' and girls' activity. Chi-square analysis showed age-related differences in distribution of stereotyping of the activities. Over age groups there were more discrepancies between boys' and girls' ratings of activities as sex-specific. These findings suggest that sex-role stereotyping of sports and physical activities becomes more predominant across age groups.
