Strong reasons make strong actions. - William Shakespeare1
Human beings are products of both nature and nurture. The degree to which each factor influences the abilities, character, and attitudes that make up any particular human being has been debated as long as human beings have been trying to fathom how they become who they are. People with the genetic syndromes described in this issue of Topics in Language Disorders have genotypes that can be described more fully than ever before, but their phenotypes (products of genotype, plus life experience, plus unexplained variation) are far from being fully understood. The articles in this issue can help build that understanding. The authors provide in-depth reviews of the evidence for language and literacy profiles that are associated with Down syndrome, fragile X syndrome, Williams syndrome, velo-cardio-facial syndrome, and Turner syndrome.
Twenty-first-century practitioners have tools for understanding the human genotype that were not available to our predecessors. In 2003, an international group of scientists completed the 13-year Human Genome Project (HGP). The Web site for the U.S. Department of Energy and National Institutes of Health2 outlines the goals the HGP addressed as being to (a) identify all the genes in human DNA; (b) determine the sequences of the 3 billion chemical base pairs that make up human DNA; (c) store this information in databases; (d) improve tools for data analysis; (e) transfer related technologies to the private sector; and (f) address the ethical, legal, and social issues that may arise from the project.
Although key objectives of the HGP have been met through an impressive international and interdisciplinary effort, it is certainly not the case that all of the interesting questions about human genetics have been answered. Some of the many remaining questions will require the combined efforts of biological and behavioral scientists (such as these authors) and interdisciplinary contributions beyond those required to map the human genome. For example, how do so-called background genes modify the effects of altered genes to produce the human phenotype? How do layered etiologies and genetically altered mechanisms trigger changes that in turn influence behaviors and learning patterns? What are the actual mechanisms via which altered biology modifies abstract neurolinguistic processes of language and literacy learning? Science, both biological and behavioral, is still at the frontier of exploring questions such as these.
A practical question of immediate interest to clinicians and clinical researchers relates to how much positive difference nurture can make (e.g., in the form of familial and societal supports, solid educational experiences, and appropriate interventions) when nature deals a challenging hand. The authors of this issue offer rich information that can help readers clarify reasons and understand patterns that can support their actions aimed at fostering optimal language and literacy development and successful social participation. Opportunities for further research remain wide open. Meanwhile, "strong reasons" (as in knowledge of genetically determined challenges), tempered by healthy respect for individual differences, can help clinicians conceptualize actions that go beyond efforts to fix impaired structures and functions to focus instead on working with participants to meet their individualized language needs (both spoken and written). Complementing selection of targets that are of value to participants and meaningful to others, content in these articles can be used to design interventions that are most likely to fit phenotypic profiles.
Efforts to look for commonalities in categorical conditions carry risks that professionals, including speech-language pathologists, will reconceptualize phenotypes into stereotypes that emphasize impairment and can become self-fulfilling prophecies. The authors of this issue, ably led by issue editor, Leonard Abbeduto, have summarized language and literacy learning challenges faced by individuals with these genetic conditions, but they also have highlighted areas of relative strength-some predictably associated with each condition and some that can be explained only as individual variation.
Service delivery systems and professionals have responsibilities to help individuals with challenging genetic syndromes experience high-quality opportunities to participate in learning and community activities and reap the rewards that literacy can bring. Medical model contributions regarding phenotypic patterns and variations facilitate movement toward this goal. Simultaneously, social model contributions can create opportunities for supportive inclusive instruction, intervention, and interaction. We trust that the readers of this issue will be stimulated to combine elements of both models in formulating sound reasons that can trigger strong actions.
Nickola Wolf Nelson, PhD
Katharine G. Butler, PhD
Editor
Editor Emerita
1The Life and Death of King John (Act 3, Scene 4).(2009). Retrieved April 2, 2009, from http://shakespeare.mit.edu/john/john.3.4.html[Context Link]
2Downloaded on April 2, 2009, from http://www.ornl.gov/sci/techresources/HumanGenome/home.shtml[Context Link]