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PubMed1984

The pathogenesis of brain abnormalities in the fetal alcohol syndrome: an integrating hypothesis.

The most obvious characteristics of the fetal alcohol syndrome are a cluster of minor, physical malformations that are rather nonspecific and that vary greatly in the frequency and severity of expression. The most common characteristics are general body and organ growth deficits, including microcephaly. The most debilitating characteristics, however, are central nervous system (CNS) dysfunctions, such as behavioral and intellectual impairments, which appear to be closely related to the growth deficits. The mechanisms whereby alcohol exerts its deleterious effects on intrauterine growth and development are being intensively investigated. Because of its pharmacological properties, maternal consumption of alcohol is associated with widespread effects throughout the maternal-placental-fetal organism, many of which can secondarily alter the in utero environment. Both direct and indirect mechanisms are discussed with respect to their contribution to alcohol-related effects on embryofetal growth and development. It is suggested that impairment in the protein synthetic machinery, resulting in cellular growth restriction at critical periods of development is the common mechanism underlying alcohol's teratogenicity. Because the development of the CNS is so prolonged and complex compared to other organ systems, it is exquisitely vulnerable to derangement throughout pregnancy.

Brain↗
PubMed1995

On the mechanical function of tendon.

A mesoscopic approach is followed for mathematical modelling of the specific deformation properties of tendon. The approach starts from our general concept of modelling mechanical behaviour of heterogeneous media and assumes that the structure of tendon is optimized in such a way that it enables its adjacent muscle to work with a constant performance in the course of increasing loading (acting like a gearbox in a car). The model based on this assumption gives results that are in a very good accordance with observed properties of tendons. Clinical experience reveals that if this function of tendon is violated pathological changes appear in the respective muscle. RELEVANCE: Clarification and mathematical modelling of the mechanical function of tendon is of intellectual interest in its own right, but it is important also for cautioning surgeons against unnecessary violation of this function, and for tissue engineering aspects if tendon must be replaced.

Journal Article↗
PubMed2026

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Endolysosomal abnormalities are particularly detrimental to the nervous system and have been implicated in neuropsychiatric disorders. Key regulators of the lysosomal and endosomal luminal ion homeostasis are CLC chloride/proton exchangers. We report 15 individuals carrying variants in CLCN3, encoding a ubiquitous endosomal 2Cl-/H+ exchanger, and provide updated clinical information for 5 previously reported individuals. Subjects displayed a broad spectrum of neuropsychiatric symptoms, including developmental delay, intellectual disability, and epilepsy. To reveal the pathogenic mechanism, we investigated ClC-3 variants-mediated ion transport and its regulation by the recently discovered inhibitory beta subunit TMEM9. 12/20 missense variants exhibited altered properties and fell into two classes: those affecting the region binding inhibitory TMEM9 carboxy-termini, and those that broaden the voltage range over which ClC-3 conducts ions. Surprisingly, the latter variants also attenuated TMEM9-mediated inhibition. Both classes produced a toxic gain-of-function, as evident from endolysosomal vacuolization by mutant ClC-3/TMEM9 overexpression. Our results expand the genetic and clinical spectrum of CLCN3-related disease, provide a solid basis for genetic counseling, and uncover an unexpected link between gating-associated conformational changes and inhibition by TMEM9.

Chloride Channels↗
PubMed1991

Reconstructionist molecular biology.

In the editorial inaugurating this journal, Levine (1989) pointed to a new reductionism in biology, which--unlike the old reductionism that led to specialization and isolation of areas concerned with different aspects of a complex biological problem--is providing a renewed sense of unity. This development is the result of widespread use of common experimental methodology and the emergence of signal transmission and differential gene expression as themes that are central to many areas of modern biology. I describe here a set of complementary developments in molecular biology that focus attention on the problems of complexity and organization. Simple examples are given that illustrate the difficulty of relating systemic behavior to the properties of the underlying molecular determinants, and the outlines of a general approach to this problem are presented. These developments, together with those highlighted by Levine, are leading us to a new, more integrative intellectual paradigm whose fruits will be the elucidation of fundamental issues concerning network function, design, and evolution that cannot be addressed by the current paradigm.

Models, Biological↗
PubMed2004

Consumer-based quality of life assessment: the Maryland ask me! Project.

The concept of quality of life currently impacts program development, service delivery, management strategies, and outcome evaluation in the area of intellectual disabilities. Maryland uses peer interviewers to assess consumer-perceived quality of life among adult recipients of MR/DD services and supports. In this article we describe the survey instrument and procedures and discuss assessment issues of quality of responses, acquiescence, and proxy respondents. We present the psychometric properties for eight core quality of life domains among 923 people assessed in FY 2001. Results are summarized and development of a model for enhancing social inclusion, personal development, and self-determination was described. Service and personal characteristics relating to quality of life as well as some ways the results can be used for program enhancement are discussed.

Adult↗
PubMed2002

Measuring staff support in services for people with intellectual disability: the Staff Support and Satisfaction Questionnaire, Version 2.

Social support is an important determinant of well-being, including the stress experienced within the work setting. The present paper reports on the development of the Staff Support and Satisfaction Questionnaire (3SQ), from a previously published measure: the Staff Support Questionnaire. The 3SQ was piloted with 21 health professionals and examined for evidence of test-retest reliability with 24 staff. Data on internal reliability were collected on three occasions from a total sample of 177 staff. The validity of the 3SQ was examined in four studies with a total of 238 staff by testing it against validated measures of psychological well-being. The data showed that the total scale had a high level of test--retest reliability (rs=0.82, P < 0.001) and consistently high internal reliability. Three out of the four validity studies showed statistically significant inverse relationships between the total scale and measures of psychological well-being. The weakest link was the 'Supportive People' subscale. The reliability and validity studies suggest that the psychometric properties of the 3SQ are generally robust, except for the 'Supportive People' subscale, which should be interpreted with caution.

Adult↗
PubMed2005

Cross-cultural study of quality of life indicators.

The concept of quality of life is increasingly being used internationally in the field of intellectual disabilities. We surveyed three respondent groups representing five geographical groupings on the importance and use of the 24 core quality of life indicators most commonly reported in the international quality of life literature. Results suggest (a) similar profiles on importance and use across respondent and geographical groups, but differences in the frequency per response category; (b) significant differences in mean quality of life importance and use scores for both respondent and geographic groupings; and (c) factors on importance and use generally grouped into eight core quality of life domains. Results are discussed in reference to the etic (universal) and emic (culture-bound) properties of the quality of life concept.

Adult↗
PubMedDate not supplied

Breast-feeding and gender as moderators of teratogenic effects on cognitive development.

Researchers in the Netherlands have reported that the associations of prenatal polychlorinated biphenyl (PCB) exposure with poorer cognitive performance in childhood are generally stronger and statistically significant only among non-breast-fed children. This paper reports a similar pattern of greater vulnerability among non-breast-fed children in the Michigan cohort of children whose mothers had eaten PCB-contaminated Lake Michigan fish. It is difficult to determine from prospective human longitudinal data whether the apparent decreased vulnerability among breast-fed children is due to nutrients in breast milk that might attenuate the adverse neurochemical effects of this exposure and/or the more optimal intellectual stimulation that was provided by the breast-feeding mothers in these cohorts. The latter interpretation was supported by analyses demonstrating that virtually all of the positive associations between breast-feeding and cognitive outcome can be accounted for statistically by measures of quality of parental intellectual input and that the adverse effects associated with prenatal PCB exposure were also markedly stronger in children raised by less verbally competent mothers, who presumably provided less optimal intellectual stimulation. Because there were no consistent patterns of differential vulnerability for either gender, these data did not support the hypothesis that prenatal PCB exposure may disrupt cognitive development due to the estrogenic or antiestrogenic properties of its congeners and metabolites.

Breast Feeding↗
PubMed2000

[Adverse effects of psychotropic drugs in the elderly].

As in other organs, homeostatic mechanisms become insufficient in the aging brain, in part because of reduced activity of various neurotransmitter systems. Counter-regulatory processes are therefore reduced and reactions to drugs may be increased. Aside from these pharmacodynamic mechanisms, the increased toxicity of psychotropic agents in the elderly may be a result of pharmacokinetic changes. The total clearance of a number of drugs is reduced in old age, hence steady-state plasma concentrations of these compounds will be increased when conventional doses are used. Because of these changes, the central nervous system is especially vulnerable in elderly. With tranquilizers and hypnotics, sedation is increased and cognitive function may decrease. The risk of falls and injuries is enhanced with all psychoactive drugs. In addition, response to agents with anticholinergic properties (classical antidepressants and neuroleptics) is increased in old age and is accompanied by peripheral symptoms such as urinary retention, obstipation, tachycardia and visual disturbances. In the central nervous system there may be impairment of intellectual capabilities, agitation, and ultimately delirium. Further, the undesirable cardiac effects of tricyclic antidepressants should be noted. The selective serotonin reuptake inhibitors (SSRI) and moclobemide have an advantageous pharmacological profile compared to older antidepressants. Of the neuroleptics, the benefit-risk relation of the newer atypical agents appears to be more favorable than that of classical neuroleptics.

Accidental Falls↗
PubMed1983

Expression of the fragile site Xq27 in fibroblasts. I. Detection of fra(X)(q27) in fibroblast clones from males with X-linked mental retardation.

Twelve fibroblast clones from two males with X-linked mental retardation expressed the fragile site Xq27 in 3%-38% of metaphases analyzed. The number of in vitro doublings during the cloning procedure had no evident influence on the induction of fragile X expression. The variability of fragile X expression seems to depend on cell properties acquired during culture rather than on properties originally inherent in the cells.

Chromosome Fragile Sites↗
PubMed2004

Building artificial life for play.

Playthings are often engineered to replicate the character of real organisms. In the past, inventors lavished great expense on their lifelike automata, their constraints being typically related to the mechanical technology they employed and the amount of time and effort they were able to commit to the enterprise. The devices that are currently produced are usually intended for the mass market. The cost of production therefore is a major concern, even though the technology is more sophisticated and highly automated than in the past. Consequently, toymakers and engineers, as well as artists, of the past and present alike have had to think abstractly about living systems in order to construct their simulacra economically. This essay examines a number of lifelike toys to discover the properties of real organisms that their designers have attempted to recreate. That we, as users of these devices, so readily recognize in them a degree of lifelikeness demonstrates the extent to which intuition may sway our intellectual reasoning about real biology. As a result, an innovative toymaker or artist is able to manipulate us to zoomorphize even the most extreme abstractions--at least momentarily--despite our rational reluctance to accept the trickery.

Artificial Intelligence↗
PubMed1989

Perceptual and intellectual development in infancy.

The conventional view of development in human infancy is that objective awareness of the surrounding world is gradually constructed during the first 2 years through the infant's actions on the environment. However, recent work on the perceptual abilities of young infants indicates that even newborns perceive objective properties of their surroundings, detecting depth and displaying perceptual constancies that have hitherto been attributed only to older infants. In consequence it is necessary to revise our model of infant development. Since evidence points to objective perception from birth there is no need to postulate developmental processes that lead to its construction during development. However, as infants gain new capabilities for acting on the world, they have to develop knowledge of how these actions relate to the perceived world. It is suggested that this sort of knowledge is constructed through active experience.

Child Development↗
PubMedDate not supplied

[Temporal connections in the performance by children of choice-by-model reactions].

Mechanisms of choice reactions by model were studied in children 3-6 years old, when the relevant figure coincided with the model by the meaning of only one of three properties, and irrelevant one--by meanings of two noncriterial properties, and differed from the model by the meaning of the criterial property. Criterial properties in various series were colour, form and size. Two propositions are substantiated: 1) the reaction presents a fine differentiation, the signal of which is the coincidence of excitations only in one of several channels of processing of information on objects physical properties; 2) alongside with positive temporary connection to excitations coincidence, in the given conditions a second inhibitory temporary connection is formed which leads to refusal from the irrelevant figure choice. Its signal is noncoincidence of excitations in the criterial channel of processing of information on objects physical properties. This second inhibitory connection is weak in 3-4 years old children and becomes stronger with age. A conclusion is made about acceptability and sufficiency of principles of temporary connection and systematization for physiological analysis of intellectual behavioural acts.

Aging↗
PubMed2006

Evidence for "Uner Tan Syndrome" as a human model for reverse evolution.

"Uner Tan Syndrome" was further studied in a second family. There was no cerebellar atrophy, except a mild vermial atrophy in MRI scans of the affected individuals. This is not, however, the pathogenesis of the "Uner Tan Syndrome", since in the first and second families there were bipedal men exhibiting very similar MRI scans. The second family may also be considered a live model for reverse evolution in human beings. The present work provided evidence for a reverse evolution: (i) quadrupedality; (ii) primitive mental abilities including language; (iii) curved fingers during wrist-walking of the quadrupedal woman; (iv) arm to leg ratios being close to those of the human-like apes. The quadrupedal individuals were raised in separate places, so that they could not imitate each other, excluding the socio-cultural factors contributing to the habitual quadrupedal gait. The results are consistent with the single gene theory, suggesting a single gene controlling multiple behavioral traits, and the psychomotor theory, and a co-evolution of the human mind, an emergent property of the motor system expressed by human language.

Adult↗
PubMed1997

Resettlement. Home at last.

A three-year resettlement programme was hampered by opposition from local communities, with the result that many residents had to be moved in the last few months before the hospital closure. The idea of resettlement provoked anxiety among residents' relatives as some residents had been in the hospital all their lives. The cost of the programme was higher than first envisaged partly due to property prices.

Adult↗