Reproductive Decision-Making in MMR Mutation Carriers After Results Disclosure: Impact of Psychological Status in Childbearing Options

Reproductive techniques such as prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD), although debated, are legally forbidden in France in case of Lynch syndrome. The preference of mutation carriers about their reproductive options is not systematically considered in France. We aimed to prospectively assess the reproductive preferences of mismatch repair mutation carriers consulting in our institution (2003–2010, n?=?100). We also considered the short- and long-term post-disclosure psychological impact using the Impact of Events Scale-Revised questionnaire to measure the prevalence of posttraumatic stress disorder (PTSD) in those patients. Complete data were obtained for 34 respondents (17 males, 17 females, median age of 33.5 years [22–59]). Seventeen respondents (57 %) preferred spontaneous natural conception versus 28 % and 35 % choosing PND and PGD, respectively. At results disclosure, respondents mainly explained their distress by fear of premature death (43 %) and transmitting mutated genes (42 %). One year later, this last fear remained predominant in 55 % of subjects. None of the main socio-demographical, psychological or medical variables (including fear of transmitting mutations) was significantly associated with the reproductive preferences. Results disclosure had a real and time-decreasing psychological impact on mutation carriers. Reproductive techniques, expected to decrease the hereditary risk, were not significantly preferred to natural conception.     

Medial prefrontal cortex supports source memory for self-referenced materials in young and older adults

Behavioral evidence suggests that young and older adults show a benefit in source memory accuracy when processing materials in reference to the self. In the young, activity within the medial prefrontal cortex supports this source memory benefit at study. In this investigation, we examined whether the same neural regions support this memory benefit in both age groups. Using fMRI, we scanned participants while they studied and retrieved pictures of objects paired with one of three scenes (source) under self-reference and other-reference conditions. At the time of study, half of the items were presented once and half twice, allowing us to match behavioral performance between the groups. Both groups showed equivalent source accuracy benefits for objects encoded self-referentially. Activity in the left dorsal medial prefrontal cortex supported subsequent source memory in both age groups for the self-referenced relative to the other-referenced items. At the time of test, source accuracy for both the self- and other-referenced items was supported by a network of regions including the precuneus in both age groups. At both study and test, little in the way of age differences emerged, suggesting that when they are matched on behavioral performance, young and older adults engage similar regions in support of source memory when processing materials in reference to the self; however, when we did not match performance, age differences in functional recruitment were prevalent. These results suggest that by capitalizing on preserved processes (self-referential encoding), older adults can show improvement in memory for source details that they would typically not remember well, relative to the young.     

The Influence of Clinical Experience and Assessment Method on the Evaluation of Child Behavior Change

This research examined how people’s ability to detect behavior change in simulated child targets is affected by their clinical experience and the assessment method they use. When using summary assessment methods that are widely employed in research and clinical practice, both inexperienced and experienced clinical staff detected changes in the overall frequency of targets’ aggressive behavior, but were not uniquely influenced by changes in targets’ reactions to social events. When using contextualized assessment methods that focused on conditional reactions, experienced staff showed greater sensitivity than novices to context-specific changes in targets’ aggressive and prosocial reactions to aversive events. Experienced staff also showed greater sensitivity to context-specific changes in their overall impressions of change, but only for aggression. The findings show how clinically experienced judges become more attuned to if…then… contingencies in children’s social behavior, and how summary assessment methods may hamper the detection of change processes.     

SOCIOEMOTIONAL AND BEHAVIORAL PROBLEMS IN TODDLERS WITH LANGUAGE DELAY

Toddlers with language delay are at risk for persistent developmental and behavioral difficulties; however, the association between socioemotional/behavior problems and language in young children is not well understood. This study explored socioemotional/behavior problems in a unique sample of toddlers with language delays using a measure developed explicitly for this age group. Toddlers identified by 18 months with receptive and expressive language delay (LD; n = 30) or typical development (TD; n = 61) were evaluated at 18 and 24 months of age using the Infant‐Toddler Social and Emotional Assessment (ITSEA) and the Mullen Scales of Early Learning. Compared to toddlers who had TD, toddlers with LD had significantly more concerning scores at 18 and 24 months on all ITSEA domains. The rate of “clinical concern” on most domains was not high in either group, except that >60% of LD toddlers were in the clinical concern range on the Competence domain. Socioemotional/behavioral problems were dimensionally related to receptive and expressive language, with greater language delay associated with more concerning ITSEA scores. Socioemotional and behavioral problems are related to receptive and expressive language abilities in 18‐ and 24‐month‐olds, indicating the need for screening of both types of concerns in toddlers identified with potential language delays.     

The Relationship Between Treatment Acceptability and Youth Outcome in Group CBT for Youth with ASD and Anxiety

Anxiety is one of the most common co-occurring diagnoses in youth with autism spectrum disorder (ASD). Cognitive behavior therapy (CBT) is an evidence-based treatment that has been tailored for youth with ASD and anxiety and has shown good efficacy in reducing youth anxiety immediately after treatment. One area that has not been widely studied is acceptability of CBT for anxiety in this population. Acceptability includes beliefs about the potential helpfulness and satisfaction with a given treatment and may be important in understanding treatment outcomes. This study focuses on parent, youth, and clinician acceptability of a well-researched CBT program, Facing Your Fears, for youth with ASD and anxiety. Data was collected as part of a larger multi-site study that compared three different instructional conditions for clinicians learning the intervention. Results indicated that parents rated acceptability as higher for the overall treatment compared to youth. Further, youth and parents rated exposure related sessions as more acceptable than psychoeducation, and higher exposure acceptability ratings were predictive of lower youth anxiety levels post-treatment. Clinicians who received ongoing consultation rated treatment acceptability lower than clinicians in the other training conditions. While some clinicians may be hesitant to implement exposure techniques with this population, findings suggest that it is the technique that parents and youth rated as the most acceptable. Results are discussed in terms of treatment and research implications for youth with ASD and their families.     

Behavioral contrast: Research and areas for investigation

Behavioral contrast occurs when a change in reinforcement rate in one context results in a change in behavior in the opposite direction in an unchanged context. Despite decades of study by basic researchers, behavioral contrast has remained largely an unstudied phenomenon among applied researchers. The purpose of this paper is to occasion translational and applied research on behavioral contrast with the aim of predicting and controlling socially significant behavior in unchanged contexts. We present a brief history of contrast and related definitions, review research with human and nonhuman subjects, and suggest future directions for applied and translational researchers.     

Long-term Evaluation of Genetic Counseling Following False-Positive Newborn Screen for Cystic Fibrosis

This cross-sectional mixed method study was a long-term follow-up evaluation of families who participated in an earlier survey of their understanding of cystic fibrosis (CF) genetics and their infants’ false-positive CF newborn screening (NBS) results. Thirty-seven of the original 138 parents participated in the follow-up telephone survey. Results showed parents who received genetic counseling at the time of their infants’ diagnostic sweat tests had significantly higher long-term retention of genetic knowledge than those without genetic counseling. However, both groups still had misconceptions and lacked accurate information about the actual risk associated with being a CF carrier. Most parents either had already informed (65%) or planned to inform (19%) their children about the child’s carrier status. Mean child age at the time of disclosure was 9.2 years. Situational prompts were the most common reasons for informing their children. Neither parental knowledge, medical literacy, nor parental education predicted whether parents informed their children about their carrier status. False-positive NBS results for CF were not associated with parental perceptions of child vulnerability 11–14 years after the testing. Although the sample from this study was small, these findings underscore the benefits of genetic counseling at the time of the diagnostic sweat test and offer information that can assist parents in talking with their children about the implications of having one CFTR mutation.