Communicating BRCA1/2 genetic test results within the family: a qualitative analysis

Genetic testing for BRCA1/2 mutations associated with hereditary breast and ovarian cancer reveals significant risk information about one's chances of developing cancer. It is important to study communication processes in families where members are undergoing genetic testing because the information received is crucial not just to the individual concerned but also to other members of the biological family. This study investigates family communication of BRCA1/2 test results from both the informants' and recipients' perspectives. A total of 10 female patients and 22 of their relatives were interviewed. Patients' and their relatives described feelings of responsibility for sharing genetic information within the family to enable others to reduce their risks of developing cancer. However, there were limits to an individuals' responsibility once key family members had been informed, who then had to take responsibility for continuing dissemination of information. Whilst there was an implicit responsibility to inform the family of a mutation, information was edited or withheld in the best interest of relatives, dependent upon their perceived emotional readiness, resilience and current life stage and circumstances. The pre-existing family culture and the impact previous cancer diagnoses had upon the family also influenced the process of communication. Findings are discussed in relation to extant literature and implications for clinical practice are considered.     

Young infants' generalization of emotional expressions: effects of familiarity

From birth, infants are exposed to a wealth of emotional information in their interactions. Much research has been done to investigate the development of emotion perception, and factors influencing that development. The current study investigates the role of familiarity on 3.5-month-old infants' generalization of emotional expressions. Infants were assigned to one of two habituation sequences: in one sequence, infants were visually habituated to parental expressions of happy or sad. At test, infants viewed either a continuation of the habituation sequence, their mother depicting a novel expression, an unfamiliar female depicting the habituated expression, or an unfamiliar female depicting a novel expression. In the second sequence, a new sample of infants was matched to the infants in the first sequence. These infants viewed the same habituation and test sequences, but the actors were unfamiliar to them. Only those infants who viewed their own mothers and fathers during the habituation sequence increased looking. They dishabituated looking to maternal novel expressions, the unfamiliar female's novel expression, and the unfamiliar female depicting the habituated expression, especially when sad parental expressions were followed by an expression change to happy or to a change in person. Infants are guided in their recognition of emotional expressions by the familiarity of their parents, before generalizing to others.     

Concordance Between Parent Reports of Children's Mental Health Services and Service Records: The Services Assessment for Children and Adolescents (SACA)

The concordance between parent reports of children's mental health services and medical and administrative service records were assessed in a field test of the Services Assessment for Children and Adolescents (SACA) interview instrument. Service use reports from primary caregivers, usually mothers, for their child's emotional or behavioral problems were compared against inpatient, outpatient, and school records in St. Louis, one of the pilot sites for the Multi-Site Study of Service Use, Need, Outcomes and Costs in Child and Adolescent Populations (UNOCCAP). A global any use service variable, comprised of inpatient, outpatient, and school reports, yielded an overall service use concordance kappa of .76 between parent reports and records. Parent reports of inpatient hospitalization services using the SACA yielded the highest agreement with medical records, with kappa statistics of 1.00 for use of any inpatient hospital care and for medication use. Parent reports of specific inpatient services concurred with medical records more moderately, yielding kappas from .50 to .66. Reports of any outpatient mental health services yielded variable rates of agreement, with kappas ranging from .67 for any use of outpatient care, to .66 for medication use, to negligible kappas for specific treatments. Parent reports of school services were weakly related to records for most services, except for moderate agreement (.48) on placement in special classrooms for emotional or behavioral problems. Family burden or impact discriminated more powerfully than other variables between respondents who concurred with records and those who did not.     

Tactile sensitivity in Asperger syndrome

People with autism and Asperger syndrome are anecdotally said to be hypersensitive to touch. In two experiments, we measured tactile thresholds and suprathreshold tactile sensitivity in a group of adults with Asperger syndrome. In the first experiment, tactile perceptual thresholds were measured. Two frequencies of vibrotactile stimulation were used: 30 and 200 Hz. The results demonstrated significantly lower tactile perceptual thresholds in the Asperger group at 200 Hz but not at 30 Hz, thus confirming tactile hypersensitivity but only for one class of stimulus. A second experiment investigated whether self-produced movement affected the perception of touch in a group of adults with Asperger syndrome. A suprathreshold tactile stimulus was produced either by the participant (self-produced condition) or by the experimenter (externally produced condition) and participants were asked to rate the perception of the tactile stimulation. The results demonstrated that, while both Asperger and control groups rated self-produced touch as less tickly than external touch, the Asperger group rated both types of tactile stimulus as significantly more tickly and intense than did the control group. This experiment confirms the finding of tactile hypersensitivity, but shows that the perceptual consequences of self-produced touch are attenuated in the normal way in people with Asperger syndrome. An abnormality in this process cannot therefore account for their tactile hypersensitivity.     

Newborn Screening for Cystic Fibrosis: Parents’ Preferences Regarding Counseling At the Time of Infants’ Sweat Test

Newborn screening (NBS) protocols for cystic fibrosis (CF) are the first regional population-based programs to incorporate DNA analysis into their procedures. Research about these programs can inform policy and practice regarding how best to counsel families with abnormal NBS results. The grounded theory method guided interviews with 33 families whose infants had abnormal CF NBS results. A dimensional analysis of these interviews provided a theoretical framework describing parents’ preferences regarding counseling during their infant's sweat test appointment. This framework describes the contexts and characteristics of the two main dimensions of parents’ preferences: factual information and emotional support. Factual information included learning about the probability of a CF diagnosis, CF disease facts, sweat test procedure, and CF genetics. Social support consisted of offering parents a choice about the timing and amount of CF information, showing empathy for their distress, instilling hope, personalizing counseling, and providing hospitality. This framework also explains the consequences of counseling that matched versus mismatched parental preferences in these domains. Counseling that matched parents preferences reduced parents’ distress while mismatched counseling tended to increase parents’ worry about their infant.     

Assessment of eating disorder psychopathology in obese children and adolescents: interview versus self-report questionnaire

The present study compared two methods for assessing binge eating and related eating disorder psychopathology in obese children and adolescents. A comparison was made between the child version of the Eating Disorder Examination (ChEDE) and the self-report version of the interview (ChEDE-Q). A total of 139 children and adolescents (aged 10-16 years) seeking inpatient treatment for obesity completed the ChEDE questionnaire and were administered the ChEDE interview afterwards. The ChEDE and ChEDE-Q were significantly correlated for the four subscales: restraint, eating concern, weight concern and shape concern. The ChEDE-Q generated consistently higher levels of eating disorder psychopathology. There was a significant discrepancy for the assessment of a more complex feature such as binge eating. Overall, the current study found lower levels of agreement between the EDE and EDE-Q than previously reported in adult samples. It appears that children and adolescents have difficulties in identifying binge-eating episodes when they receive no detailed instruction. It is concluded that a clinical interview is necessary to identify eating disorders in obese children and that a self-report questionnaire can only be used as a screening tool. Even then, thorough clarification of the definition of the eating disorder features is needed when using a self-report questionnaire.     

Artificial time constraints on the Iowa Gambling Task: the effects on behavioural performance and subjective experience

In the last decade, the Iowa Gambling Task (IGT) has become a widely employed neuropsychological research instrument for the investigation of executive function. The task has been employed in a wide range of formats, from 'manual' procedures to more recently introduced computerised versions. Computer-based formats often require that responses on the task should be artificially delayed by a number of seconds between trials to collect skin-conductance data. Participants, however, may become frustrated when they want to select from a particular deck in the time-limited versions--so that an unintended emotional experience of frustration might well disrupt a task presumed to be reliant on emotion-based learning. We investigated the effect of the various types of Iowa Gambling Task format on performance, using three types of task: the classic manual administration, with no time limitations; a computerised administration with a 6-s enforced delay; and a control computerised version which had no time constraints. We also evaluated the subjective experience of participants on each task. There were no significant differences in performance, between formats, in behavioural terms. Subjective experience measures on the task also showed consistent effects across all three formats-with substantial, and rapidly developing, awareness of which decks were 'good' and 'bad.'     

Children's comprehension of sentences with focus particles

We report three studies investigating children's and adults' comprehension of sentences containing the focus particle only. In Experiments 1 and 2, four groups of participants (6-7 years, 8-10 years, 11-12 years and adult) compared sentences with only in different syntactic positions against pictures that matched or mismatched events described by the sentence. Contrary to previous findings (Crain, S., Ni, W., & Conway, L. (1994). Learning, parsing and modularity. In C. Clifton, L. Frazier, & K. Rayner (Eds.), Perspectives on sentence processing. Hillsdale, NJ: Lawrence Erlbaum; Philip, W., & Lynch, E. (1999). Felicity, relevance, and acquisition of the grammar of every and only. In S. C. Howell, S. A. Fish, & T. Keith-Lucas (Eds.), Proceedings of the 24th annual Boston University conference on language development. Somerville, MA: Cascadilla Press) we found that young children predominantly made errors by failing to process contrast information rather than errors in which they failed to use syntactic information to restrict the scope of the particle. Experiment 3 replicated these findings with pre-schoolers.