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MENTAL RETARDATION.

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Education of Persons with Intellectual Disabilitie↗

[Mortality patterns of non-institutionalized severely retarded children in Tokyo--the third report 1999-2001].

We investigated mortality patterns of severely retarded children who were cared at their homes in Tokyo ten years after our first report. During the past two and a half years (from April 1999 to September 2001), we identified 41 fatal cases. The annual case fatality rate (the mortality rate among the investigated children) was 8.2@1000 in all the school-attending children and was 10.1@1000 in children with severe motor and intellectual disabilities. The rate was less than half of that in our past report and seemed to the lowest among those in several studies. Aggravation of basal disorders, severe respiratory infections and/or sepsis, and unexplained sudden death accounted for most of the death. We conclude that advance of medical service and the propagated medical education of teachers working for special schools play an important role to reduce the mortality in severely retarded children.

Adolescent↗

The long-term effects of children's early-onset disability on marital relationships.

To investigate the long-term effects of a child's chronic illness or severe physical or intellectual disability on parents and their marital relationship, the parents of 89 children, aged 14-17, years were interviewed. The parents returned a questionnaire and a social worker interviewed them. One-fifth of the respondents had experienced the child's disability as contributing positively to the marital relationship, 25% reported impairment in some areas of the marital relationship, while only 7% felt that they had drawn apart from each other. A higher level of occupational education, insecurity at onset, heavy daily demands for care of the child, unequal distribution of tasks between the spouses and a lack of time for leisure activities were found to be risk factors for impaired marital satisfaction. Adequate information, a realistic notion of the illness or disability and practical advice for everyday life seemed to be the protective factors for the marital relationship.

Adaptation, Psychological↗

[Pharmacological treatment of mental retardation].

INTRODUCTION: Mental retardation (MR) is defined by the simultaneous appearance of a low intellectual level and an inability to adapt to the demands of the surroundings, beginning either in childhood or during adolescence. Although it is to expected that in the future it will become possible to treat intellectual disability itself by pharmacological means, at present we can only act on the behavioural and neurological syndromes that accompany MR. DEVELOPMENT AND CONCLUSIONS: This review looks at the different pharmacological agents that may improve the problems that usually make it more difficult for a patient with MR to adapt within the family, at school and in the workplace. The neuropsychiatric disorders that most often require pharmacological treatment include attention deficit, hyperactivity, behavioural disorders, autism, anxiety, aggressiveness, self-injury and affective disorders. The most frequently used drugs are stimulants, atypical antipsychotics and selective serotonin reuptake inhibitors (SSRI). Their characteristics and application in the different situations that require medical attention are described. The pharmacological treatment of certain common genetic syndromes that involve MR and which are highly specific in their behavioural expression are also discussed.

Child↗

Tragedy and catastrophe: contentious discourses of ethics and disability.

Undertaking theoretical-conceptual research, this paper identifies and explores two dominant discourses that seemingly underpin ethical considerations about people with intellectual disability in this current biotechnological era. The discourses, identified as tragedy and catastrophe, are constructed from conjunctions of particular theoretical understandings of disability and particular frameworks of ethics. For example, both tragedy and catastrophe are founded upon notions of disability as personal tragedy; and ethics, especially bioethics, primarily practised as medical ethics. What differs between the discourses is the apparent intent of each, and subsequently the arena in which they are activated. This paper asserts that the identification and deconstruction of these discourses, and their implicit ethical agendas, cannot be ignored and indeed should be challenged, when considering the impact of technological and scientific advances, such as the Human Genome Project. However, there has been little attention given in contemporary ethical discussions as to whether these discourses are contestable, or the power base of their constructions questionable. In fact, the insertion of 'counterstories' from relational experiences with people with disability may offer both alternative understandings and a more appropriate ethical platform from which to engage in critical discussions. The challenges are, then, whether these counterstories can be heard in such a climate; and what currency will bioethics, as a discipline, give them against the very powerful and partnering disciplines controlling the biotechnological revolution?

Biotechnology↗

Large state-level fluctuations in mental retardation classifications related to introduction of renormed intelligence test.

Oppositely valenced forces may be at work to influence rates of placement of children into mental retardation programs. On one hand, educational policies regarding intellectual disability and concerns about overrepresentation of minorities in special education may contribute to lower placement rates; on the other hand, more difficult intelligence test norms may be a countervailing force, increasing placement rates. An analysis of longitudinal data on state and national level placement rates reveals that a lengthy and steep 12-year decline in students receiving mental retardation services reversed shortly after the introduction of the WISC-III in 1991. This phenomenon has relevance for death-penalty cases, because this historical pattern may affect the ability to establish whether an adult meets the developmental period onset criterion for mental retardation.

Adolescent↗

Issues in aging. The role of the nurse in the care of older people with intellectual and developmental disabilities.

Many people with I/DD are growing older and in increasing numbers. Generally people with I/DD experience the same physical process of aging as do individuals without lifelong disabilities with the exception of those individuals who have Down syndrome who may show physical signs of aging as much as 20 years earlier. Individuals with I/DD may experience some unique concerns associated with aging with similar or even higher rates of age-related conditions than do older persons without lifelong disabilities [20]. Geriatric care principles will guide nurses caring for older people with I/DD, beginning with the assessment of functional status to determine interventions for developmental, aging, and health concerns and health promotion. Nursing interventions must be individualized both according to the person's preferences and health status. A primary goal is to prevent acute exacerbation of any underlying pathological process, prevent unnecessary deterioration of the older individual's physical condition, and maintain optimum physical and mental function. Nurses can provide individuals who are aging and their families or caregivers the needed anticipatory guidance about life transitions during the aging years, including palliative end-of-life care. This is an exciting and challenging time for nurses who care for aging people with I/DD. John F. Kennedy once said, "It is not enough for a great nation to have added new years to life. Our objective must be to add new life to those years." As a profession, nurses have historically added years to life. The challenge of nursing is now to add quality life to those years for all older persons with I/DD.

Adolescent↗

Beyond ethical individualism.

Contemporary ethical debate about clinical practice centres primarily on the individual resolution of dilemmas, an approach which is incompatible with the social constructionist focus on human interdependence. Many constructionists argue that virtue ethics (VE) offers a more useful perspective on ethics than either consequentialism or deontology. From this perspective, the purpose of ethics is not to specify the right act in a particular situation, but to understand ethical and unethical practices conceptually, i.e. how these are learned, and how these contribute to and develop the ethical life in an ethical environment. Criticisms of VE are considered alongside discussion of its implications for clinical practice with people who have intellectual disability.

Ethics, Professional↗

Disability: the place of judgement in a world of fact.

Ways of viewing disability, of developing research questions, of interpreting research results, of justifying research methodology, and of putting policies and programmes in place are as much about ideology as they are about fact. It is important to recognize how significant this is to research generally and to the field of intellectual disability in particular. The roots of scientific and socio-economic justification for the allocation of research funding, and of political (or state) action based on research findings can be found in identifiable and shifting ideological frameworks. Therefore, to understand the field, it is useful to explore the social and scientific formulations of disability which underpin the research agenda, and the ways of knowing disability.

Persons with Disabilities↗

The long term neurologic outcome of children from pregnancies complicated by twin-to-twin transfusion syndrome.

OBJECTIVE: To assess long term outcomes of children from pregnancies complicated by twin-to-twin transfusion syndrome. DESIGN: Comparison of children from pregnancies with twin-to-twin transfusion syndrome in Western Australia with a contemporaneous regional comparison cohort of preterm and term infants studied using an identical assessment procedure. POPULATION AND SETTING: All infants aged > or =18 months were identified from a geographically based longitudinal cohort of monochorionic twin pregnancies with an antenatal diagnosis of twin-to-twin transfusion syndrome conducted prospectively since 1992. METHODS: Children were evaluated using age-specific developmental and behavioural assessments. Cerebral palsy was diagnosed clinically and ascertainment confirmed through the Western Australian Cerebral Palsy Register. MAIN OUTCOME MEASURES: Intellectual disability, cerebral palsy, behavioural and cognitive function. RESULTS: Fifty-two children were identified as eligible for study and assessments were performed on 49 (94%). Three surviving children had a diagnosis of cerebral palsy (5.8%). The mean IQ score was 8 points lower in twin-to-twin transfusion syndrome children compared with the comparison cohort although this was mainly due to a decrement of 13 points in those born before 33 weeks of gestation. There was no difference between the donor and the recipient twin in terms of IQ scores (median difference -3, 95% CI -9 to 6). There was no relationship of IQ score to the worst stage of the twin-to-twin transfusion syndrome. Child Behavior Check List and Vineland Adaptive Behavior Scale scores did not differ between twin-to-twin transfusion syndrome children and the comparison group. CONCLUSIONS: Twin-to-twin transfusion syndrome is associated with a significant reduction in IQ score in very preterm survivors. There seems to be no increase in the prevalence of cerebral palsy. Overall behaviour and adaptive behaviour scale scores are similar to a comparison group.

Cerebral Palsy↗

Personality disorders in people with learning disabilities: follow-up of a community survey.

BACKGROUND: A sample of community-based service users with intellectual disability (ID) was re-examined after 5 years to determine the impact of a diagnosis of personality disorder (PD). METHODS: Seventy-five of the original 101 participants were followed up. Of these, 21 people had a PD identified during the original study. RESULTS: Compared with controls, people with a PD were significantly more likely to receive central nervous system (CNS) drugs, have more contact with psychiatric services, show increased offending behaviour, score higher on the Aberrant Behaviour Checklist and score above the threshold on the Psychiatric Assessment Schedule for Adults with Developmental Disability (PAS-ADD). Participants with PD recorded were more likely to have a recorded psychiatric disorder, have contact with specialist teams, and have more hospital admissions. CONCLUSION: People with ID and PD are able to live in the community with specialist support but improved assessment, diagnosis and support services need to be targeted more effectively to them.

Adult↗

KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.

PURPOSE: Neurodevelopmental disorders (NDDs) are characterized by limitations in brain development. This study aims to determine the genetic causes of NDD in humans. METHODS: Exome sequencing was used to detect genetic variants of KLHL13, which encodes Kelch like protein 13 (KLHL13), in four families segregating in an X-linked pattern. In silico protein modeling and overexpression in heterologous cells were used to determine the variant's impact. klhl13 loss of function was modeled in zebrafish, followed by rescue studies using human KLHL13 messenger RNA (mRNA) and an Aurora Kinase B (AURKB) inhibitor. RESULTS: We found one frameshift and three missense hemizygous variants of KLHL13 in individuals exhibiting NDD characteristics, such as intellectual disability (ID) and macrocephaly. Three-dimensional protein modeling simulation predicted the alteration of the KLHL13 protein folding for missense variants. Overexpression of NDD-associated variants in HEK293T cells revealed a significant impact on KLHL13-mediated cell-cycle regulation during mitosis, leading to genomic instability. Knocking down klhl13 in zebrafish resulted in developmental deficits, which were rescued by coinjection of human KLHL13WT messenger RNA but not by transcript encoding NDD variants. Treatment with AURKB selective inhibitor AZD1152-HQPA rescued genomic stability in heterologous cells and neurobehavioral deficits in zebrafish. CONCLUSION: Our results implicate KLHL13-mediated AURKB regulation as a significant contributor to NDD in humans. Inhibiting AURKB activity could serve as a potential therapeutic approach to improve brain development and cognitive function.

Humans↗

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.

PURPOSE: Myocardin-related transcription factor B (MRTFB) is an important transcriptional regulator, which promotes the activity of an estimated 300 genes but is not known to underlie a Mendelian disorder. METHODS: Probands were identified through the efforts of the Undiagnosed Disease Network. Because the MRTFB protein is highly conserved between vertebrate and invertebrate model organisms, we generated a humanized Drosophila model expressing the human MRTFB protein in the same spatial and temporal pattern as the fly gene. Actin binding assays were used to validate the effect of the variants on MRTFB. RESULTS: Here, we report 2 pediatric probands with de novo variants in MRTFB (p.R104G and p.A91P) and mild dysmorphic features, intellectual disability, global developmental delays, speech apraxia, and impulse control issues. Expression of the variants within wing tissues of a fruit fly model resulted in changes in wing morphology. The MRTFBR104G and MRTFBA91P variants also display a decreased level of actin binding within critical RPEL domains, resulting in increased transcriptional activity and changes in the organization of the actin cytoskeleton. CONCLUSION: The MRTFBR104G and MRTFBA91P variants affect the regulation of the protein and underlie a novel neurodevelopmental disorder. Overall, our data suggest that these variants act as a gain of function.

Animals↗

An epidemiological study on anemia among institutionalized people with intellectual and/or motor disability with special reference to its frequency, severity and predictors.

BACKGROUND: To examine the type, frequency, severity, and predictors of anemia and its relationship with co-morbid conditions among institutionalized people with intellectual and/or motor disability. METHODS: We conducted a cross-sectional study at a public facility for people with intellectual and/or motor disability in Ibaraki prefecture, Japan. Health checkup data obtained in 2001 from 477 people with intellectual disability (male: 286, average age 40.6 +/- 12.3; female: 191, average age 45.1 +/- 11.6) were retrospectively reviewed. RESULTS: The prevalence of anemia among male participants was higher than in female participants for each disability category (intellectual disability, 41.1%, 4.2%; cerebral palsy, 37.5%, 4.8%; Down's syndrome, 15.0%, 0%; severe motor and intellectual disabilities, 61.9%, 16.7%). Most participants with anemia (93.8 - 100%) showed a normocytic normochromic anemia pattern. Multivariate analysis revealed that factors related to an increase in frequency included sex (male), low body mass index (BMI), use of anticonvulsants or major tranquilizers, and a high zinc sulfate turbidity test (ZTT) value. No clinically diagnosed co-morbid condition was found to be related to the presence of anemia. CONCLUSION: A high frequency of mild normocytic normochromic anemia in institutionalized people with intellectual and/or motor disability was observed, particularly among males. Medications and chronic inflammation may increase the risk of anemia.

Adult↗

Risk factors for injuries and falls among adults with developmental disabilities.

The present study was designed to identify risk factors for injuries including falls and non fall-related injuries among adults with developmental disabilities. The following variables were examined as potential risk factors: age, gender, level of intellectual disability, health, seizures, ambulatory status, adaptive and maladaptive behaviours, use of antipsychotic drugs, and type of residential setting. The subjects were 268 adults with developmental disabilities > or = 30 years of age. A total of 30 participants (11%) were reported to have injuries. Over 50% of injuries were caused by falls. Individuals who had a higher frequency of seizures, had more destructive behaviour and used antipsychotic drugs had the highest risk of injuries. A sub-analysis of fall-related injuries indicated that individuals who were > or = 70 years of age, ambulatory and had a higher frequency of seizures had the highest risk of injurious falls. Adaptive behaviour, destructive behaviour and physical health were positively related to non-fall-related injuries. Individuals with developmental disabilities who have better health and greater adaptive behaviour may be more active, and therefore, at an increased risk of non-fall-related injuries.

Accidental Falls↗

An investigation of instructional scheduling arrangements for community-based instruction.

The instructional scheduling arrangements of simulated and community-based instruction across an equivalent set of functional and vocational skills were examined. Five secondary age students with moderate intellectual disabilities participated in four instructional scheduling arrangements measuring skill acquisition, generalization, and maintenance of functional tasks. The four instructional scheduling arrangements examined were simulated-only instruction (SOI), community-based instruction only (CBI), combination of SOI and CBI on consecutive school days (CCD), and combination of SOI and CBI on the same school day (CSD). The CSD schedule was significantly more effective for student acquisition performance than SOI, CBI, and CCD schedules. Although the CBI schedule resulted in the fewest number of instructional sessions for students to acquire the targeted skill, fewer sessions for skill generalization were required for students during the combined simulation and community instruction CSD schedule. Overall, both combined instructional scheduling arrangements (e.g., CCD, CSD) produced more efficient outcomes for generalization than SOI and CBI scheduling arrangements.

Activities of Daily Living↗