Quality of life of adults with mental retardation/developmental disabilities who live with family

In this paper, we review the literature related to the quality of life of adults with mental retardation/developmental disabilities (MR/DD) who live at home with their families. We examine the nature of the relationships between adults with MR/DD and their parents and siblings, the social worlds of adults with MR/DD, age-related functional and health issues that affect their quality of life, the range of services and supports provided to them, and familial efforts to plan for their continued well-being when parental care is no longer viable. Individual characteristics associated with these dimensions and/or more compromised quality of life profiles are identified. The paper concludes with recommendations for expanded research on the quality of life of adults with MR/DD who live in the parental home, a topic which has received markedly less attention than the quality of life of adults who live in publicly supported residential settings. MRDD Research Reviews 7:105-114, 2001.     

Positron emission tomography methods with potential for increased understanding of mental retardation and developmental disabilities

Positron emission tomography (PET) is a technique that enables imaging of the distribution of radiolabeled tracers designed to track biochemical and molecular processes in the body after intravenous injection or inhalation. New strategies for the use of radiolabeled tracers hold potential for imaging gene expression in the brain during development and following interventions. In addition, PET may be key in identifying the physiological consequences of gene mutations associated with mental retardation. The development of high spatial resolution microPET scanners for imaging of rodents provides a means for longitudinal study of transgenic mouse models of genetic disorders associated with mental retardation. In this review, we describe PET methodology, illustrate how PET can be used to delineate biochemical changes during brain development, and provide examples of how PET has been applied to study brain glucose metabolism in Rett syndrome, serotonin synthesis in autism, and GABAA receptors in Angelman's syndrome and Prader-Willi syndrome. Future application of PET scanning in the study of mental retardation might include measurements of brain protein synthesis in fragile X syndrome and tuberous sclerosis complex, two common conditions associated with mental retardation in which cellular mechanisms involve dysregulation of protein synthesis. Mental retardation results in life-long disability, and application of new PET technologies holds promise for a better understanding of the biological underpinnings of mental retardation, with the potential to uncover new treatment options.     

Theoretical perspectives on language and communication problems in mental retardation and developmental disabilities

We argue that researchers interested in language and communication problems in mental retardation or any other developmental disorder should view such problems as emerging within the broader context of the behavioral profile, or phenotype, associated with a particular genetic condition. This will require understanding the direct and indirect effects of genes on the development of language and communication and thereby an understanding of the complex relations that exist between language and other dimensions of psychological and behavioral functioning as well as an understanding of the environments in which the developing person acts and is acted upon. We believe that the dominant model for understanding language and communication problems--the nativist approach, which emphasizes the child's innate capacity for acquiring language and characterizes language as consisting of a set of context-free deterministic rules that operate on abstract representations--is inconsistent with an emphasis on indirect genetic effects. We review recent evidence that undermines the nativist approach--evidence concerning the initial state of the language-learning child, the role of environmental input, the competence-performance distinction, and modularity. In place of nativism, we argue for Emergentism, which is a model in which language is seen to emerge from the interaction between the child's biological abilities to map statistical properties of the language input into a distributed representation and the characteristics of the language learning environment and for the purpose of engaging in real-time, meaningful language use.     

Applications of gene targeting technology to mental retardation and developmental disability research

The human and mouse genome projects elucidated the sequence and position map of innumerous genes expressed in the central nervous system (CNS), advancing our ability to manipulate these sequences and create models to investigate regulation of gene expression and function. In this article, we reviewed gene targeting methodologies with emphasis on applications to CNS development and neurodevelopmental disorders.     

Regulatory and ethical principles in research involving children and individuals with developmental disabilities

Children and individuals with developmental disabilities (DD) compared to typical participants are disadvantaged not only by virtue of being vulnerable to risks inherent in research participation but also by the higher likelihood of exclusion from research altogether. Current regulatory and ethical guidelines although necessary for their protection do not sufficiently ensure fair distributive justice. Yet, in view of disproportionately higher burdens of co-occurring physical and mental disorders in individuals with DD, they are better positioned to benefit from research by equitable participation. Greater elucidation of this ethical dilemma is called for by researchers, institutional review boards, and funding agencies to urgently redress the imbalance. This article discusses many of the regulatory principles to ensure better research participation of children and individuals with DD: human rights, validity, distributive justice, beneficence/nonmaleficence, and autonomy.     

BRCA1 testing and informed consent in a woman with mild retardation

Cancer predisposition testing can pose complex genetic counseling issues. This casereport discusses whether it is appropriate to provide BRCA1 testing to a woman withlimited intellectual capacity and documented psychological distress. This case is one ofseveral cancer counseling cases presented to our Genetic Counseling Supervision Groupover the past three and a half years. The Supervision Group provided valuable feedback and supportto proceed with this challenging case.     

The contribution of novel brain imaging techniques to understanding the neurobiology of mental retardation and developmental disabilities

Studying the biological mechanisms underlying mental retardation and developmental disabilities (MR/DD) is a very complex task. This is due to the wide heterogeneity of etiologies and pathways that lead to MR/DD. Breakthroughs in genetics and molecular biology and the development of sophisticated brain imaging techniques during the last decades have facilitated the emergence of a field called Behavioral Neurogenetics. Behavioral Neurogenetics focuses on studying genetic diseases with known etiologies that are manifested by unique cognitive and behavioral phenotypes. In this review, we describe the principles of magnetic resonance imaging (MRI) techniques, including structural MRI, functional MRI, and diffusion tensor imaging (DTI), and how they are implemented in the study of Williams (WS), velocardiofacial (VCFS), and fragile X (FXS) syndromes. From WS we learn that dorsal stream abnormalities can be associated with visuospatial deficits; VCFS is a model for exploring the molecular and brain pathways that lead to psychiatric disorders for which subjects with MR/DD are at increased risk; and finally, findings from multimodal imaging techniques show that aberrant frontal-striatal connections are implicated in the executive function and attentional deficits of subjects with FXS. By deciphering the molecular pathways and brain structure and function associated with cognitive deficits, we will gain a better understanding of the pathophysiology of MR/DD, which will eventually make possible more specific treatments for this population.     

Living circumstances of children and adults with mental retardation or developmental disabilities in the United States, Canada, England and Wales, and Australia

The purpose of this article was to collate evidence to describe where people with mental retardation or developmental disabilities live in five developed countries: United States, Canada, England, Wales, and Australia. Family homes are important dwelling places for people with mental retardation. They are the home of the great majority of children with mental retardation and a considerable proportion of adults with mental retardation. The likelihood of placement outside the family home increases with adulthood and progressively as people age. Adults with mental retardation live in a wide variety of settings, with formal residential provision frequently dependent on the arrangements that the authorities responsible for providing service support have chosen to make. There has been a considerable move away from accommodating people in large segregated and geographically isolated institutions in the countries considered. However, the current range of accommodation includes much with a distinctively different character to the homes where other citizens live. Many people still live in larger groups than would be ordinarily found in typical homes and this may necessitate departure from the architectural norm. In all of the countries considered, there has been a recent trend towards small community settings, compatible with typical housing architecture. This appears furthest advanced in the U.S. but is discernible elsewhere. Availability of residential services at a national level varies between 100 and 155 places per 100,000 total population. Regional variation within countries is even greater. In no case is the national availability considered adequate to meet the demand arising from changing need or expectations. MRDD Research Reviews 7:115-121, 2001. (c) 2001 Wiley-Liss, Inc.     

Genetic research,adolescents, and informed consent

The participation of adolescents in genetic research engenders unusual problems concerning the nature of their informed consent. In this study we analyze 70 consent documents collected from genetics investigators in the United States who conduct research with children and adolescents. We find that many consent documents do not reflect either the current or the developing ethical and legal standards for research with adolescents and that in many cases the documents are simply confusing or unclear. We make recommendations for change to reflect more adequately the changing perspective concerning the autonomous decision-making capacity of adolescents.     

Using telehealth to teach valued skills to adults with intellectual and developmental disabilities

Telehealth uses electronic information and telecommunication technologies to deliver long-distance clinical services. It has successfully been used by clinical professionals to teach family and staff members to provide evidence-based assessment and treatment procedures. There is no research to date, however, evaluating the use of telehealth to directly teach individuals with intellectual and developmental disabilities (IDD). Thus, we evaluated the efficacy of a telehealth intervention using total task chaining with least-to-most prompting delivered via videoconference to 2 adults with IDD. Both participants demonstrated low independent responding during baseline with enhanced written instructions present. During intervention, which included vocal and model prompting, both participants met the mastery criterion for each skill in fewer than 15 sessions, which maintained after 2 weeks. Finally, both participants expressed satisfaction with the goals, procedures, and effects of the intervention. We discuss the broader scope of the intervention for individuals with disabilities when face-to-face services may not be feasible.     

Health-promoting physical activity of adults with mental retardation

This literature review describes the physical activity behavior of adults with mental retardation consistent with the U.S. Surgeon General's recommendation of 30 minutes of moderate intensity physical activity on 5 or more days per week. The proportion of participants achieving this criterion ranges from 17.5 to 33%. These data are likely to be generous estimates of activity as individuals included in physical activity studies to date have been relatively young and healthy volunteers with mild to moderate limitations. Major sources of physical activity were walking and cycling for transport, chores and work, dancing, and Special Olympics. There is a pressing need to conduct studies using appropriately powered representative samples and to validate measures that assess physical activity less directly; including methodologies in which proxy respondents are used. Accurate information about existing patterns of behavior will enhance the development of effective strategies to promote physical activity among persons with mental retardation.     

Shading the truth in seeking informed consent for research purposes

I want to argue for two propositions. First, I suggest that what some researchers may take to be a simple trade-off between minor violations of the truth for the sake of access to far greater truths represents a profound miscalculation with far-reaching and cumulative reverberations. Second, I submit that today's research environment, as demanding, competitive, and sometimes bewildering as it is, offers genuine scope for what Murdoch calls truth-seeking, for imaging and questioning, and for relating to facts through both truth and truthfulness; but that, in so doing, it presents hard choices with respect to methods, and, in turn, to personal integrity--not only in particular research projects but also with respect to that fragile research environment in its own right.     

Some ethical and legal issues in Germany involving informed consent and patenting

This paper elaborates on discussions in Germany regarding some of the ethical and legal issues in the area of the use and patenting of inventions involving human tissue. The issues discussed pertain to the benefits and problems regarding informed consent and the issue of property rights as they relate to the donation of cells and tissue. An earlier version of this paper was presented at an international conference, “The Ethics of Intellectual Property Rights and Patents,” held in Warsaw, Poland on 23–24 April, 2004.     

Informed consent and research involving the newly dead

This paper examines informed consent in relation to research involving the newly dead. Reasons are presented for facilitating advance decision making in relation to postmortem research, and it is argued that the informed consent of family members should be sought when the deceased have not made a premortem decision. Regardless of whether the dead can be harmed, there are two important respects in which family consent can serve to protect the dead: (1) protecting the deceased's body from being used for research that is incompatible with the person's postmortem preferences and values and (2) protecting the deceased's body's from being subject to disrespectful treatment. These claims are explained and justified, and several objections are critically examined. Additional reasons for securing family consent are presented including to protect them from additional emotional distress, to respect their wishes about wanting to have a say, and to maintain public trust in the medical profession and medical research. The paper also examines the scope of disclosure in relation to postmortem research.     

Establishing derived requesting skills in adults with severe developmental disabilities

This project examined whether a history of reinforced relational responding would result in derived requesting skills in 3 adults with disabilities. Participants were first taught to request preferred items using pictures; they were then taught conditional discriminations between pictures and their dictated names and between dictated names and their corresponding text. Finally, requests for preferred items using corresponding text were evaluated. All 3 participants demonstrated derived requesting skills.     

Community-based instruction for independent meal preparation by adults with profound mental retardation

Three adults with profound mental retardation and very limited reading skills were transitioned to community living after spending more than 20 years in a residential facility. Community-based instruction was used to teach them to independently prepare meals. Directed rehearsal and prompting procedures were used to teach them those meal preparation skills that they were unable to perform independently. We present assessment, training and followup data on the preparation of a dessert by the three participants. Following an assessment on the steps needed to prepare the dessert, training was introduced in a multiple baseline across subjects design. Results showed that the participants were able to independently prepare the dessert in up to 21 pre-training and training sessions. Monthly followup for six months showed that they were able to independently prepare the dessert in various community settings of their choice.     

Evaluation of a sexual abuse prevention program for adults with mental retardation.

Programs to teach sexual abuse prevention skills to persons with mental retardation have rarely been evaluated empirically, and typical evaluations are limited to assessment of the participants' knowledge rather than their performance of specific skills. In the present study, 6 adult women with mental retardation were trained in sexual abuse prevention, and performance was assessed using four separate measures: pretests and posttests of knowledge, verbal report, role play, and naturalistic probes. All women learned the skills but failed to exhibit them to criterion during the probes. We discuss the implications for further training and assessment of sexual abuse prevention skills.