The Laboratory-Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing

The International Standards for Cytogenomic Arrays (ISCA) Consortium is a worldwide collaborative effort dedicated to optimizing patient care by improving the quality of chromosomal microarray testing. The primary effort of the ISCA Consortium has been the development of a database of copy number variants (CNVs) identified during the course of clinical microarray testing. This database is a powerful resource for clinicians, laboratories, and researchers, and can be utilized for a variety of applications, such as facilitating standardized interpretations of certain CNVs across laboratories or providing phenotypic information for counseling purposes when published data is sparse. A recognized limitation to the clinical utility of this database, however, is the quality of clinical information available for each patient. Clinical genetic counselors are uniquely suited to facilitate the communication of this information to the laboratory by virtue of their existing clinical responsibilities, case management skills, and appreciation of the evolving nature of scientific knowledge. We intend to highlight the critical role that genetic counselors play in ensuring optimal patient care through contributing to the clinical utility of the ISCA Consortium's database, as well as the quality of individual patient microarray reports provided by contributing laboratories. Current tools, paper and electronic forms, created to maximize this collaboration are shared. In addition to making a professional commitment to providing complete clinical information, genetic counselors are invited to become ISCA members and to become involved in the discussions and initiatives within the Consortium.     

The Use of a Family History Risk Assessment Tool within a Community Health Care System: Views of Primary Care Providers

Primary care providers (PCPs) offered input regarding the incorporation of a family health history (FHH) risk assessment tool into a community health care system (CHCS). Sixteen PCPs participated in one of three focus groups. Perceived impediments included the lack of standard screening guidelines, effective screening tests, genetic counseling resources, and services for high-risk patients. The PCPs were concerned about their level of expertise, the cost of preventive health care, and genetic discrimination. They also were concerned about the use of a FHH tool by oncologists within the CHCS because of communication gaps between oncologists and PCPs, lack of clarity regarding follow-up and legal liability, and reimbursement issues. To integrate a FHH tool into a CHCS, PCPs will need consultation and referral services, evidence-based recommendations, and "just-in-time" educational resources. Oncologists who use the tool will need to develop a streamlined communication system with PCPs, establish clearly defined roles, and ensure patient follow-up.     

Motor proficiency and emotional/behavioural disturbance in autism and Asperger's disorder: another piece of the neurological puzzle?

The relationship of motor proficiency with emotional/behavioural disturbance, autistic symptoms and communication disturbance was investigated in children diagnosed with autism and Asperger's disorder (AD). The Movement Assessment Battery for Children was used as a measure of motor impairment, and the Developmental Behavioural Checklist was used as a measure of emotional/behavioural disturbance in the following groups: AD (n?=?22), high functioning autism (HFA) (n?=?23), LFA (n?=?8) and typically developing children (n?=?20). The HFA group had more difficulty with motor items, such as ball skills and balance, than did the AD group. There were significant positive correlations between impairments in motor proficiency (in particular ball skills and balance) and emotional/behavioural disturbance, autistic symptoms and communication disturbance. These findings are consistent with the hypothesis that there are qualitative and quantitative differences in the motor profile between autism and AD. In addition, the association between motor proficiency impairment and emotional/behavioural disturbance in autism and AD emphasizes the importance for screening of co-occurring emotional/behavioural symptoms in individuals with motor difficulties. These findings have implications for the potential use of adjunct motor measures in the diagnosis and definition of autism spectrum disorders.     

The relationship between performance-based self-esteem and self-reported work and health behaviors among Danish knowledge workers

Since knowledge intensive work often requires self-management, one might fear that persons who are dependent on work success for self-esteem will have difficulties in finding a healthful and sustainable balance between internal needs and external demands. Accordingly, we examined to what degree work-related performance-based self-esteem (PBS) was linked to work and health behaviors in 392 knowledge workers (226 women, 166 men). In the women group, multiple binary logistic regression analyses with repeated measurements showed that the PBS score was associated with 10 of the 17 examined work and health behaviors. For men the corresponding figure was 3 of 17. In both men and women, higher PBS scores were positively associated with reports of efforts and strivings for work as well as attending work while ill. In conclusion, statistically significant relationships between PBS and work and health behaviors were more clearly visible among women than men. Whether this gender difference is dependent on the study design, or on true inherent differences between women and men, cannot be concluded with any certainty. However, persons who described themselves as being relatively more dependent on work accomplishments for a high self-esteem, as expressed by the PBS score, seem to display work behaviors that may lessen their restitution time. In addition, they also seem to be more prone to work while sick.     

Habermas, Pupil Voice, Rationalism, and Their Meeting with Lacan’s Objet Petit A

‘Pupil voice’ is a movement within state education in England that is associated with democracy, change, participation and the raising of educational standards. While receiving much attention from educators and policy makers, less attention has been paid to the theory behind the concept of pupil voice. An obvious point of theoretical departure is the work of Jürgen Habermas, who over a number of decades has endeavoured to develop a theory of democracy that places strong significance on language, communication and discourse. This paper is an attempt to gauge the usefulness of Habermas’ approach to understanding the theory of pupil voice, in particular how his theory of universal pragmatics lends itself to a ‘philosophy of between’, a philosophy that finds echoes in the conflicted nature of schooling that ‘pupil voice’ is supposed to rectify to some extent. The paper also explores the drawbacks of a Habermasian approach, in particular his overreliance on rationality as a way of understanding communication. Lacan’s concept of the objet petit a is introduced as an alternative way of understanding pupil voice.     

Early childhood trichotillomania: Initial considerations on phenomenology,treatment, and future directions

Historically, trichotillomania (TTM) in young children (0–3 years old) generally has been considered to be a benign habit that is clinically distinct from the TTM seen in older children and adults. However, early childhood TTM can be an impairing pathological disorder that merits formal intervention. The present article reviews the extant literature on TTM in young children, highlighting the limited available phenomenological data. We discuss a behavioral approach to conceptualization and treatment, highlighting core intervention strategies in three early childhood TTM cases seen in our clinic. We conclude by discussing areas in need of further empirical attention.     

The Relationship between Temperamental Negative Affect,Effortful Control,and Sensory Regulation: A New Look

Temperamental negative affectivity (NA) and effortful control (EC) have long been of interest to psychologists, but sensory regulation (SR) has received less attention. Using confirmatory factor analysis, the present study reexamined the Rothbart model of EC and NA using the Children's Behavior Questionnaire (CBQ; M.K. Rothbart, S.A. Ahadi, K.L. Hershy, & P. Fisher, 2001), along with alternative models of EC, NA, and SR using the CBQ and Short Sensory Profile. The results failed to replicate the Rothbart model of EC and NA, which includes SR within the EC and NA factors. A good fit was found for a three‐factor model (EC, NA, and SR) that was replicated in a holdout sample. A three‐factor model also showed a good fit when EC, NA, and SR items similar to symptoms of behavior problems were eliminated.     

Carry on: spontaneous object carrying in 13-month-old crawling and walking infants

Carrying objects requires coordination of manual action and locomotion. This study investigated spontaneous carrying in 24 walkers who were 13 months old and 26 crawlers who were 13 months old during 1-hr, naturalistic observations in the infants' homes. Carrying was more common in walkers, but crawlers also carried objects. Typically, walkers carried objects in their hands, whereas crawlers multitasked by using their hands simultaneously for holding objects and supporting their bodies. Locomotor experience predicted frequency of carrying in both groups, suggesting that experienced crawlers and walkers perceive their increased abilities to handle objects while in motion. Despite additional biomechanical constraints imposed by holding an object, carrying may actually improve upright balance: Crawlers rarely fell while carrying an object, and walkers were more likely to fall without an object in hand than while carrying. Thus, without incurring an additional risk of falling, spontaneous carrying may provide infants with new avenues for combining locomotor and manual skills and for interacting with their environments.