Article

Supporting Family Adaptation to Presymptomatic and "Untreatable" Conditions in an Era of Expanded Newborn Screening

RTI International, Research Triangle Park, NC 27709-2194, USA.
Journal of Pediatric Psychology (Impact Factor: 2.91). 04/2008; 34(6):648-61. DOI: 10.1093/jpepsy/jsn032
Source: PubMed

ABSTRACT

As technology advances, newborn screening will be possible for conditions not screened today. With an expansion of screening, strategies will be needed to support family adaptation to unexpected and possibly uncertain genetic information provided shortly after birth.
Although candidate conditions for expanded newborn screening will typically be associated with increased morbidity or mortality, for most there is no proven medical treatment that must be implemented quickly. Many will have clinical features that gradually emerge and for which the severity of impact is not predictable. Parents will seek guidance on information, support, and treatment possibilities. This article summarizes issues evoked by expanded newborn screening and suggests strategies for supporting families of identified children.
We propose four components necessary to support family adaptation to pre-symptomatic and "untreatable" conditions in an era of expanded newborn screening: (1) accurate and understandable information; (2) formal and informal support; (3) active surveillance; and (4) general and targeted interventions. We argue that no condition is "untreatable" and that a well-designed program of prevention and support has the potential to maximize benefit and minimize harm.
Pediatric psychologists can play important roles in an era of expanded newborn screening by helping families understand genetic information, make informed decisions about genetic testing, and cope with the potential psychosocial consequences of genetic information.

Download full-text

Full-text

Available from: Debra Skinner
  • [Show abstract] [Hide abstract]
    ABSTRACT: With an eye toward functionally graded plasticity in porous material, a homogenization scheme is developed to determine the overall elastoplastic behavior of a porous material with an interfacial ductile zone. The development involves four key steps: i) a linear comparison composite, ii) the secant moduli of the ductile phases, iii) an energy approach, and iv) a field-fluctuation method. With the aid of a 3-phase spherically concentric solid, the developed theory can be readily used to calculate the overall elastoplastic behavior of the porous material regardless whether the interfacial ductile layer is softer or stiffer than the matrix. To assess its accuracy, an exact local analysis is also carried out under pure dilatation, and comparison between the two indicates a close agreement. The theory is then applied to examine the influence of the ductile interfacial zone on the overall elastoplastic strength. The results show that its volume concentration and its relative stiffness to the ductile matrix can both have a very significant effect on the overall elastoplastic behavior of the porous material.
    No preview · Article · Dec 1998

  • No preview · Article · Nov 2008 · Current problems in pediatric and adolescent health care
  • [Show abstract] [Hide abstract]
    ABSTRACT: Newborn screening began in the 1960s with a condition causing severe intellectual disability, phenylketonuria, a disease that could be remediated through a dietary change that prevented intellectual disability. Since then newborn screening has become a significant public health initiative offered in every birthing hospital in the United States, sometimes for more than 50 conditions. The landscape of newborn screening is changing rapidly, however, as a result of new gene discoveries, technological developments, advocacy efforts, and private market forces. Soon it will be possible to screen for many conditions causing intellectual disability, but for which there will be no immediate medical treatment, evoking issues related to the ethics of disclosing genetic information about “untreatable conditions” and the support systems that would be necessary to help families and children cope with this information. Fundamental questions have been asked about the likelihood of various costs and benefits of early identification, prompting a whole new set of demands for data on the efficacy of earlier psychosocial interventions and the timing of treatments. This chapter reviews the history and current status of newborn screening for intellectual disability, envisions a likely future of possible genetic disclosure, and identifies research questions that will need to be answered to help inform public policy.
    No preview · Article · Dec 2008 · International review of research in mental retardation
Show more