Genetic Counseling in a Busy Pediatric Metabolic Practice

Patients with inborn errors of metabolism and their families require unique clinical care including management of acute illnesses, screening for long term complications, discussion of the etiology of the condition, connections to social supports, and clarification of the recurrence risks and prenatal testing and treatment options. Our multidisciplinary pediatric metabolic clinic combines the skills of metabolic geneticists, pediatric dieticians, social workers, clinical pharmacists, nurses and genetic counselors to provide optimal and well-rounded care for our patients and their families. Given the inherited nature of most inborn errors of metabolism and the necessary long-term management for these disorders, the genetic counselor’s role in this clinic setting is integral in providing ongoing support and education for patients and their families. This includes coping with the disease burden, helping patients and families adapt to a condition in the family and ensuring adequate understanding of the genetic risks and the available prenatal diagnostic and reproductive choices. Our clinic provides services to a large geographic area with many isolated populations where unique metabolic diseases are highly prevalent secondary to a founder effect. In this paper, we share our experience in providing longitudinal care to children with complex medical needs due to metabolic disorders and highlight the role of the genetic counselor in this clinic setting.     

Parenting and child body mass index: Longitudinal investigation of maternal and paternal influence

The aim of this study was to investigate the cross‐sectional and longitudinal relationships between general parenting and body mass index (BMI) status of children between the ages of 4 and 7 in Australia. A nationally representative sample of 4,423 children (49% female) and their parents was used for the present study. Measures of parental demandingness and responsiveness were completed by parents at child age 4–5 years. Height and weight measurements of children were taken at child age 4–5, and again at 6–7, from which BMI status was calculated. No influence of mothers' parenting on child BMI status was shown, and fathers' responsiveness was found to be predictive of increased risk for overweight/obesity at 6–7 years. While the present study is complicated by measurement issues, findings suggest that increased risk for overweight in young children may be associated with responsiveness in fathers. Obesity prevention programs involving parents should take into account the influence of fathers' parenting on child BMI status.     

Percentile Norms and Accompanying Interval Estimates from an Australian General Adult Population Sample for Self‐Report Mood Scales (BAI,BDI, CRSD,CES‐D,DASS, DASS‐21, STAI‐X,STAI‐Y,SRDS, and SRAS)

Despite their widespread use, many self‐report mood scales have very limited normative data. To rectify this, Crawford et al. have recently provided percentile norms for a series of self‐report scales. The present study aimed to extend the work of Crawford et al. by providing percentile norms for additional mood scales based on samples drawn from the general Australian adult population. Participants completed a series of self‐report mood scales. The resultant normative data were incorporated into a computer programme that provides point and interval estimates of the percentile ranks corresponding to raw scores for each of the scales. The programme can be used to obtain point and interval estimates of the percentile ranks of an individual's raw scores on the Beck Anxiety Inventory, the Beck Depression Inventory, the Carroll Rating Scale for Depression, the Centre for Epidemiological Studies Rating Scale for Depression, the Depression, Anxiety, and Stress Scales (DASS), the short‐form version of the DASS (DASS‐21), the Self‐rating Scale for Anxiety, the Self‐rating Scale for Depression, the State–Trait Anxiety Inventory (STAI), form X, and the STAI, form Y, based on normative sample sizes ranging from 497 to 769. The interval estimates can be obtained using either classical or Bayesian methods as preferred. The programme (which can be downloaded at http://www.abdn.ac.uk/~psy086/dept/MoodScore_Aus.htm ) provides a convenient and reliable means of obtaining the percentile ranks of individuals' raw scores on self‐report mood scales.     

Cortisol response to behavior problems in FMR1 premutation mothers of adolescents and adults with fragile X syndrome: A diathesis-stress model

Mothers of adolescents and adults with fragile X syndrome (FXS) are faced with high levels of parenting stress. The extent to which mothers are negatively impacted by this stress, however, may be influenced by their own genetic status. The present study uses a diathesis-stress model to examine the ways in which a genetic vulnerability in mothers with the premutation of the FMR1 gene interacts with child-related environmental stress to predict their morning cortisol levels. Seventy-six mothers of an adolescent or adult with FXS participated in an 8-day telephone diary study in which they reported on the behavior problems of their son or daughter with FXS each day. We analyzed salivary cortisol collected from mothers at awakening and 30 minutes after awakening on 4 of these days. The results indicated that mothers with greater genetic vulnerability had a lower level of cortisol on mornings following days when their son or daughter with FXS manifested more episodes of behavior problems, whereas mothers with less genetic risk evinced the opposite pattern of higher morning cortisol in response to their child's behavior problems. This finding contributes to our understanding of gene-by-environment interactions and highlights the importance of interventions to alleviate parenting stress in mothers raising children with FXS.     

Selective interference with verbal short-term memory for serial order information: A new paradigm and tests of a timing-signal hypothesis

Many recent computational models of verbal short-term memory postulate a separation between processes supporting memory for the identity of items and processes supporting memory for their serial order. Furthermore, some of these models assume that memory for serial order is supported by a timing signal. We report an attempt to find evidence for such a timing signal by comparing an “item probe” task, requiring memory for items, with a “list probe” task, requiring memory for serial order. Four experiments investigated effects of irrelevant speech, articulatory suppression, temporal grouping, and paced finger tapping on these two tasks. In Experiments 1 and 2, irrelevant speech and articulatory suppression had a greater detrimental effect on the list probe task than on the item probe task. Reaction time data indicated that the list probe task, but not the item probe task, induced serial rehearsal of items. Phonological similarity effects confirmed that both probe tasks induced phonological recoding of visual inputs. Experiment 3 showed that temporal grouping of items during list presentation improved performance on the list probe task more than on the item probe task. In Experiment 4, paced tapping had a greater detrimental effect on the list probe task than on the item probe task. However, there was no differential effect of whether tapping was to a simple or a complex rhythm. Overall, the data illustrate the utility of the item probe/list probe paradigm and provide support for models that assume memory for serial order and memory for items involve separate processes. Results are generally consistent with the timing-signal hypothesis but suggest further factors that need to be explored to distinguish it from other accounts.     

Infants' ability to categorise on the basis of rhyme

Two experiments are described, which investigated 7 - to 13-month-old infants' abilities to categorise syllables according to their ending sounds, or rhymes. Using the Conditioned Headturn (CHT) Procedure, infants were conditioned to turn their head when one set of rhyming CVCs changed to another set of rhyming CVCs. Even the 7 -month-old infants demonstrated an ability to categorise according to rimes. The infants could be separated into three different groups: those who conditioned but did not succeed in a rhyming task; those who succeeded at one rhyming task but not a second; and those infants who succeeded on two rhyming tasks. The infants in the second group were showing an early sensitivity to rhyme. However, they appeared to be learning a very specific rule, listening only for one category of rhyme. The third group of infants was able to extend the initial rule they learned to include new rhymes. This group learned not only to highlight one particular rhyme, but were also able to abstract the previously learned rule to new rhymes, thereby demonstrating a higher level of sophistication in their categorisation of rhymes. These results are discussed in relation to the ontogeny of language learning, and work demonstrating a relationship between rhyming ability and competence in reading and writing.     

Doing Social Identity Leadership: Exploring the Efficacy of an Identity Leadership Intervention on Perceived Leadership and Mobilization in Elite Disability Soccer

Based on social identity principles we explore the efficacy of a leadership intervention in elite disability sport. A 2-year longitudinal design involved an elite male disability soccer team that prepared for a World Championship in Year 1 and then reformed for Paralympic competition in Year 2. Athlete data indicated marginal to significant increases from baseline to intervention phases in social identification, identity leadership displayed by staff, and hours practice completed away from training camps, but no significant change in mobilization of effort (in Year 1 and 2). We discuss the applied implications, study limitations, and opportunities for future researchers.