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PubMed2004

[The role of nutritional factors on the structure and function of the brain: an update on dietary requirements].

The brain is an organ elaborated and functioning from substances present in the diet. Dietary regulation of blood glucose level (via ingestion of food with a low glycemic index ensuring a low insulin level) improves the quality and duration of intellectual performance, if only because at rest the adult brain consumes 50 p. 100 of dietary carbohydrates, 80 p. 100 of them for energy purposes. The nature of the amino acid composition of dietary proteins contributes to good cerebral function; tryptophan plays a special role. Many indispensable amino acids present in dietary proteins help to elaborate neurotransmitters and neuromodulators. Omega-3 fatty acids provided the first coherent experimental demonstration of the effect of dietary nutrients on the structure and function of the brain. First it was shown that the differentiation and functioning of cultured brain cells requires omega-3 fatty acids. It was then demonstrated that alpha-linolenic acid (ALA) deficiency alters the course of brain development, perturbs the composition and physicochemical properties of brain cell membranes, neurones, oligodendrocytes, and astrocytes (ALA). This leads to physicochemical modifications, induces biochemical and physiological perturbations, and results in neurosensory and behavioral upset. Consequently, the nature of polyunsaturated fatty acids (in particular omega-3) present in formula milks for infants (premature and term) conditions the visual and cerebral abilities, including intellectual abilities. Moreover, dietary omega-3 fatty acids are certainly involved in the prevention of some aspects of cardiovascular disease (including at the level of cerebral vascularization), and in some neuropsychiatric disorders, particularly depression, as well as in dementia, notably Alzheimer's disease. Their deficiency can prevent the satisfactory renewal of membranes and thus accelerate cerebral aging. Iron is necessary to ensure oxygenation, to produce energy in the cerebral parenchyma, and for the synthesis of neurotransmitters. The iodine provided by the thyroid hormone ensures the energy metabolism of the cerebral cells. The absence of iodine during pregnancy induces severe cerebral dysfunction, leading to cretinism. Manganese, copper, and zinc participate in enzymatic mechanisms that protect against free radicals, toxic derivatives of oxygen. The use of glucose by nervous tissue implies the presence of vitamin B1. Vitamin B9 preserves memory during aging, and with vitamin B12 delays the onset of signs of dementia, provided it is administered in a precise clinical window, at the onset of the first symptoms. Vitamins B6 and B12, among others, are directly involved in the synthesis of neurotransmitters. Nerve endings contain the highest concentrations of vitamin C in the human body. Among various vitamin E components, only alpha-tocopherol is involved in nervous membranes. The objective of this update is to give an overview of the effects of dietary nutrients on the structure and certain functions of the brain.

Brain↗
PubMed2005

Hypovirulence: mycoviruses at the fungal-plant interface.

Whereas most mycoviruses lead 'secret lives', some reduce the ability of their fungal hosts to cause disease in plants. This property, known as hypovirulence, has attracted attention owing to the importance of fungal diseases in agriculture and the limited strategies that are available for the control of these diseases. Using one pathogen to control another is appealing, both intellectually and ecologically. The recent development of an infectious cDNA-based reverse genetics system for members of the Hypoviridae mycovirus family has enabled the analysis of basic aspects of this fascinating virus-fungus-plant interaction, including virus-host interactions, the mechanisms underlying fungal pathogenesis, fungal signalling pathways and the evolution of RNA silencing. Such systems also provide a means for engineering mycoviruses for enhanced biocontrol potential.

Ascomycota↗
PubMed2000

The trajectory of psychiatric disorders in young people with intellectual disabilities.

OBJECTIVE: This study addresses the question of how prevalence and patterns of psychiatric disorder change from childhood to adolescence in young people with intellectual disability (ID). METHOD: A representative epidemiological sample of 582 young people with ID aged 4-19 years was surveyed in 1991-1992 and again in 1995-1996. The main measure of psychiatric disturbance was the developmental behaviour checklist (DBC), a 96 item parent/carer completed questionnaire with robust psychometric properties which provided an overall score, 6 subscale or syndrome measures of psychiatric disturbance and determined caseness. RESULTS: The findings confirmed that about 40% of young people with ID had psychiatric disorders which persisted over 4 years. Clinically significant change in symptoms with either deterioration or improvement occurred in around 14% of the sample. CONCLUSION: Psychiatric disorder is 3-4 times more prevalent in young people with ID than in the general population. Less than 10% of these young people receive specialist services for a problem which is numerically as large as schizophrenia.

Adolescent↗
PubMed2006

The ComFor: an instrument for the indication of augmentative communication in people with autism and intellectual disability.

BACKGROUND: The ComFor (Forerunners in Communication) is an instrument to explore underlying competence for augmentative communication. More specifically, it measures perception and sense-making of non-transient forms of communication at the levels of presentation and representation. The target group consists primarily of individuals with autism and intellectual disability (ID) without or with only limited verbal communication. The ComFor is suitable for children and adults with a developmental level between 12 and 60 months. This paper describes the theoretical framework and structure of the ComFor, the results of a study on its psychometric properties and its clinical uses. METHOD: The ComFor was tested on a sample of 623 children and adults from the Netherlands and Flanders: a group with autism and ID (n = 310); a group with ID without autism (n = 174); and a control group of typically developing children (n = 139). RESULTS: The data generally support the reliability and validity of the ComFor. Internal consistency, inter-rater and test-retest reliability were found to be good. Construct validity (internal structure, convergent and divergent patterns) was established in different ways. The criterion-related validity has yet to be established, as predictive data are not available at the moment. CONCLUSION: Taken together, the results indicate that the ComFor is a promising instrument to explore underlying competence for augmentative communication. Areas for future research are outlined and the clinical relevance is discussed.

Adolescent↗
PubMed2007

A meta-analysis of the neurocognitive sequelae of treatment for childhood acute lymphocytic leukemia.

BACKGROUND: Impaired neurocognitive functioning is one increasingly recognized long-term consequence of childhood ALL treatment. However, research findings have been inconsistent regarding the domains affected and the degree to which they are compromised. PROCEDURE: A comprehensive meta-analytic review of the long-term neurocognitive effects of childhood ALL was conducted. Studies were included if they were published in English, reported original quantitative data on the post-treatment neurocognitive functioning of childhood ALL patients in first remission and control groups, and used neurocognitive measures with adequate psychometric properties and published normative data. RESULTS: Data from 28 empirical studies yielding 13 effect sizes across nine domains were extracted and analyzed. All effects were negative (g = -0.34 to -0.71), demonstrating that ALL survivors consistently experienced significant deficits in intellectual functioning, academic achievement, and specific neurocognitive abilities compared to control groups. The role of potential moderators, including treatment with cranial irradiation, age at time of diagnosis, and time since treatment ended, was examined. However, no effects emerged as clearly and consistently moderated by these variables. CONCLUSIONS: The results from this meta-analysis suggest that declines in both global and specific areas of areas of neurocognitive functioning occur as a result of contemporary ALL treatment. Such deficits have significant implications for survivors' academic achievement and overall quality of life. Neurocognitive assessment plays a critical role in determining what remedial or specialized instruction is needed in childhood ALL survivors and should be included as a standard part of long-term follow-up care.

Adolescent↗
PubMed1989

Neurophysiological findings in the Rett syndrome, II: Visual and auditory brainstem, middle and late evoked responses.

Nine girls with the Rett syndrome (RS) were investigated neurophysiologically using evoked potentials techniques. Visual- (VER) and auditory-evoked responses, including the early (ABR), middle (MLR) and late components (ACR), were recorded. There was evidence of variable, multilevel impairment of the nervous system. While ABR and MLR indicated lesions at the brainstem and midbrain levels, the late responses and VER pointed to an intra-cerebral/cortical defect. It is suggested that the perceptual mechanisms still functioned and some discrimination properties remained.

Adolescent↗
PubMedDate not supplied

The development of a reinforcer choice assessment scale for persons with severe and profound mental retardation.

Reinforcement is a cornerstone for treating adaptive skills and eliminating problem behaviors for persons evincing mental retardation. To effectively use reinforcement, professionals must find reinforcers that are most effective for each individual. Establishing reinforcers is particularly important for persons functioning in the severe and profound ranges of mental retardation as reinforcers are often difficult to identify in this population. The current study aimed at developing a reinforcer rating scale that-would have applicability on a broad clinical basis, looking specifically at the psychometric properties of the scale.

Adult↗
PubMed2005

Factor structure of the Schalock and Keith Quality of Life Questionnaire (QOL-Q): validation on Mexican and Spanish samples.

BACKGROUND: The Quality of Life Questionnaire (QOL-Q) is used widely to evaluate the quality of life of persons with intellectual disability (ID). Its validity for use with Spanish-speaking cultures has been demonstrated for individuals with visual disabilities, but not for those with physical or intellectual disabilities. Such was the purpose of the present study. METHOD: Two samples were administered the QOL-Q under standardized procedures. The first sample was composed of 209 Mexican participants with physical disabilities; the second was composed of 424 Spanish participants with ID. The hypothesis tested was: the applicability (i.e. etic properties) of the measure across countries and respondents would be demonstrated if reliability data and if factor composition were similar to the original measure. Cronbach's alpha was used to test reliability and exploratory factor analyses were used to test validity (i.e. factor structure). RESULTS: Data indicated that the reliability and factor structure was similar to that reported in the questionnaire's standardization manual and consistent with that reported in a number of Anglo-Saxon countries. CONCLUSION: The present study offers additional support for the valid use of the QOL-Q with Spanish-speaking populations.

Adolescent↗
PubMed2002

Research and literature on sex offenders with intellectual and developmental disabilities.

The present paper sets out to review the literature on several aspects of sex offenders with intellectual and developmental disabilities, including the relationship between sex offending and developmental disabilities, the prevalence and characteristics of sex offenders in this client group, assessment, treatment, and outcome of intervention. Several important variables were identified as influencing the disparate results found in different prevalence studies. These include variations in inclusion criteria, differences in the source of the sample, differences in determination of IQ, the impact of deinstitutionalization, and the effect of changing social and penal policies in the area where studies have been conducted. Although some studies have suggested an increasing incidence, there is no clear evidence for the over- or under-representation of people with developmental disabilities amongst sex offenders. One of the main methodological flaws in several reports listing the characteristics of sex offenders is that considerations are based on clinical samples. Therefore, there is no control group to show that these characteristics do not exist in other samples of individuals with intellectual disability (ID). It does appear that sex offenders with ID are more likely to commit offences across categories and to be less discriminating in their victims. There may also be an association with sexual abuse in childhood. The primary issue considered has been assessment of competency, in that people with ID are considered to be disadvantaged by the criminal justice process. While several authors have delineated the important areas for assessment, there are few assessment measures with robust psychometric properties. Pharmacological, behavioural, educational and cognitive treatments are reviewed. Several comprehensive treatments which include all of the aforementioned methods are also considered. Although most studies do not report particularly positive outcomes, several authors have found better outcomes with treatment lasting at least 2 years.

Cross-Sectional Studies↗
PubMed2005

Cross-cultural study of person-centred quality of life domains and indicators: a replication.

BACKGROUND: The increased use of the quality of life (QOL) concept internationally suggests the need to evaluate its etic (universal) and emic (culture-bound) properties. This study replicated and expanded a previous cross-cultural study on QOL. METHOD: The three respondent groups (consumers, parents and professionals; total n = 781) were from four European countries: France, Belgium, Italy and Poland. The Cross Cultural Survey of Quality of Life Indicators was used to assess the importance and use of eight core dimensions of QOL. Two hypotheses were tested: (1) the etic properties would be demonstrated if there were similar profiles for the respondent and geographical groups, and if indicators grouped into the proposed QOL domains; and (2) the emic properties would be demonstrated if there were significant differences on scores across groups. RESULTS: Results supported both hypotheses. CONCLUSION: The present study replicated the findings of a large cross-cultural study that the QOL construct has both etic and emic properties.

Adult↗
PubMed1988

[Effects and side effects of benzodiazepines].

Due to the wide margin of safety and their pharmacological properties benzodiazepines are among the most widely used drugs in anaesthesiology and intensive care. Onset, duration and intensity of action depends mainly on their pharmacokinetic characteristics which exhibit some differences between the numerous compounds. All benzodiazepines possess dose-dependently anxiolytic, sedative-hypnotic, muscle relaxant and anticonvulsive properties. Likewise, the profile of side effects is almost identical, because all central actions of the benzodiazepines are based on a common molecular mechanism. CNS-depressant reactions, such as sedation, (hang-over) fatigue, ataxia, impairment of motor coordination and intellectual functions including memory (amnesia!) are most frequent, especially in the elderly if dosage has not been reduced accordingly. Rapid injection of higher doses should be avoided because these drugs (especially midazolam) can suppress ventilation. However, if benzodiazepines are properly used in patient-adjusted dosage they will represent valuable drugs in anaesthesiology and intensive care.

Anti-Anxiety Agents↗
PubMed1998

[Personalization concepts of medical ethics in the teachings of John Paul II].

According to John Paul's teaching, the medicine cannot be purely technological, but needs to have some human character. The medicine doctors should consider patients as a whole, not only their problems bound with the treating them as patients, and to cure them from their illnesses, but together considering their feelings, and their intellectual and spiritual life. John Paul's teaching in relation to "the personalizing of medicine" means such a consideration of the human being that is leading to the respect about the body, spirit and their culture. Therefore the knowledge about the biological properties of human life, should be accompanied together with the look onto their dignity. Nobody could be a doctor who cures only one organ of the human's body, but must see the whole human person together with the relations to other persons connected with that patient, because they have very often much of influence on to the health of a patient. That "personalizing of the medicine" should be done on such a way, when it is seen the total ill person. The doctor should be having friendly and even heartily personal relationship to the patient, which should lead to a dialog between them, full of respect and confidence. Nobody is allowed to consider an ill person as a clinical case, but should see a person who is expecting not only professional, competent medical attention, but also the understanding of the patient's spirit, which is being bound with that illness. In this way, John Paul II is telling us, that the health service should not be based entirely on the professional knowledge and skill. The doctor should see in the ill person his own dearest brother or sister, whom we are to love very much, and should be taking part in the illnesses of them.

Attitude of Health Personnel↗
PubMed2026

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

Poly(rC)-binding protein 1 (PCBP1), a splicing factor and key member of the hnRNP E family, was initially characterized for its tumor suppressive properties. More recently, its role in gene regulation in the brain and nervous system has attracted growing interest. Through an international multicenter collaboration, we identified 16 de novo pathogenic variants in PCBP1 across 17 subjects from 16 unrelated families. All affected individuals exhibited intellectual disability (ID), with autism spectrum disorder (ASD) as a prominent feature. Functional analysis in primary hippocampal mouse neuron cultures indicated that PCBP1 variants impair dendritic arborization, underscoring their deleterious effects. Transcriptomic profiling by RNA sequencing of subject-derived T cells showed a distinctive signature characterized by significantly increased exon skipping. These results highlight the contribution of PCBP1 in neurogenesis and neuritogenesis, which is impacted by loss-of-function variants expressed in neuronal cells, thereby supporting the link between splicing defects and neurodevelopmental disorders. Collectively, our findings demonstrate the prominent role of PCBP1 in neurodevelopment, reaffirming the importance of splicing regulation in mammalian neurodevelopment.

Journal Article↗
PubMed2001

The royal free interview for spiritual and religious beliefs: development and validation of a self-report version.

BACKGROUND: Spiritual beliefs are rarely considered in psychological or medical publications. We recently published the psychometric properties of an interview designed to measure religious and spiritual belief. In this study, we aimed to develop this instrument further as a self-report questionnaire and to make it more comprehensive by including measurement of spiritual experiences in addition to faith or intellectual assent. METHODS: Based on extensive discussion with colleagues, advice from users of the interview and comments from respondents, a self-report format was designed. We then evaluated the final format of the questionnaire in terms of (1) patterns of response and demographic predictors of beliefs; (2) test-retest reliability and internal consistency; (3) criterion and internal validity; and (4) the nature of spiritual experiences and their relationship to beliefs and strength of beliefs. RESULTS: Two hundred and ninety-seven people took part in the validity and reliability tests of the questionnaire. Criterion validity, predictive validity, internal consistency and test-retest reliability were acceptably high. The instrument consistently differentiated between people with high and low spiritual beliefs. CONCLUSIONS: This instrument is brief and simple to complete. We would recommend that measures of religious and/or spiritual belief like this be more widely applied in health services research as they evaluate aspects of people's lives that go somewhat further than health status or quality of life.

Adult↗
PubMed2006

Buccal bioadhesive drug delivery--a promising option for orally less efficient drugs.

Rapid developments in the field of molecular biology and gene technology resulted in generation of many macromolecular drugs including peptides, proteins, polysaccharides and nucleic acids in great number possessing superior pharmacological efficacy with site specificity and devoid of untoward and toxic effects. However, the main impediment for the oral delivery of these drugs as potential therapeutic agents is their extensive presystemic metabolism, instability in acidic environment resulting into inadequate and erratic oral absorption. Parenteral route of administration is the only established route that overcomes all these drawbacks associated with these orally less/inefficient drugs. But, these formulations are costly, have least patient compliance, require repeated administration, in addition to the other hazardous effects associated with this route. Over the last few decades' pharmaceutical scientists throughout the world are trying to explore transdermal and transmucosal routes as an alternative to injections. Among the various transmucosal sites available, mucosa of the buccal cavity was found to be the most convenient and easily accessible site for the delivery of therapeutic agents for both local and systemic delivery as retentive dosage forms, because it has expanse of smooth muscle which is relatively immobile, abundant vascularization, rapid recovery time after exposure to stress and the near absence of langerhans cells. Direct access to the systemic circulation through the internal jugular vein bypasses drugs from the hepatic first pass metabolism leading to high bioavailability. Further, these dosage forms are self-administrable, cheap and have superior patient compliance. Developing a dosage form with the optimum pharmacokinetics is a promising area for continued research as it is enormously important and intellectually challenging. With the right dosage form design, local environment of the mucosa can be controlled and manipulated in order to optimize the rate of drug dissolution and permeation. A rational approach to dosage form design requires a complete understanding of the physicochemical and biopharmaceutical properties of the drug and excipients. Advances in experimental and computational methodologies will be helpful in shortening the processing time from formulation design to clinical use. This paper aims to review the developments in the buccal adhesive drug delivery systems to provide basic principles to the young scientists, which will be useful to circumvent the difficulties associated with the formulation design.

Adjuvants, Pharmaceutic↗
PubMed2006

Prevalence and types of aggressive behaviour among adults with intellectual disabilities.

BACKGROUND: Aggressive behaviours represent major obstacles to the integration into society of individuals with intellectual disability (ID) and pose significant management issues for carers. METHODS: The present study assessed the prevalence and severity of five types of aggressive behaviours in 3165 adult men and women with ID receiving services from three rehabilitation agencies in Québec by surveying their carers using the Modified Overt Aggressive Scale. RESULTS: The 12-month prevalence of aggressive behaviour was 51.8%: 24% property damage, 37.6% verbal, 24.4% self-oriented and 24.4% physical aggression, and 9.8% sexually aggressive behaviour, most of which being mild in severity. Only 4.9% of individuals displayed aggressive behaviour leading to injury of the victim. Few gender differences were observed. CONCLUSIONS: The capacity to document and assess the types as well as the severity of aggressive behaviour is thus critical, not only to better understand the correlates of various types of behaviours but also to orient intervention programmes whether they be prevention, assessment, monitoring or management of aggressive behaviour.

Adolescent↗