bluuebunny/crossref_metadata_2025_split huggingface dataset:
Chrousos syndrome: a seminal report, a phylogenetic enigma and the clinical implications of glucocorticoid signalling changes
Authors: Charmandari Evangelia , Kino Tomoshige 
Published: July 2010

Eur J Clin Invest 2010; 40 (10): 932–942AbstractBackground  Glucocorticoids regulate a broad spectrum of physiologic functions and play important roles in resting and stress homeostasis. Their actions are mediated by the nuclear glucocorticoid receptor (GR).Design  Using a patient as a stimulus, we reviewed briefly the area of Primary Generalized Glucocorticoid Resistance in man and nonhuman primates.Results  In man, Primary Generalized Glucocorticoid Resistance is a rare sporadic or familial syndrome characterized by target‐tissue insensitivity to glucocorticoids and compensatory elevations in adrenocorticotropic hormone (ACTH), leading to increased secretion of cortisol and adrenal steroids with mineralocorticoid and/or androgenic activity, and causing hypermineralocorticoidism and hyperandrogenism without Cushing stigmata. The presentation, diagnosis and therapy of this condition are summarized. Many or, most likely, all New World primates have markedly elevated cortisol and ACTH, and resistance to dexamethasone suppression, without any pathology. These primates in fact have ‘pan‐steroid/sterol’ resistance, including all five steroid hormones and 1,25‐dihydroxy‐vitamin D. In humans, the molecular basis of Primary Generalized Glucocorticoid Resistance has been mainly ascribed to recent mutations in the GR gene, which impair glucocorticoid signal transduction. In contrast, in the primates, steroid/sterol signalling systems have adapted under yet unknown selective pressures or genetic drift over many million years. Of course, other molecules of the signaling pathways may also be involved in both states. There are now a host of human states associated with tissue‐specific pathologic glucocorticoid target tissue changes. These include allergic, autoimmune, inflammatory and lymphoproliferative disorders.Conclusions  In recognition of Professor George P. Chrousos’ extensive ground‐breaking research in this field, and for the sake of brevity, we propose that ‘Chrousos syndrome’ is used instead of ‘Primary Generalized Familial or Sporadic Glucocorticoid Resistance’.
The role of climate, habitat, and species co‐occurrence as drivers of change in small mammal distributions over the past century
Authors: RUBIDGE EMILY M. , MONAHAN WILLIAM B. , PARRA JUAN L. , CAMERON SUSAN E. , BRASHARES JUSTIN S. 
Published: July 2010

AbstractSpecies distribution models are commonly used to predict species responses to climate change. However, their usefulness in conservation planning and policy is controversial because they are difficult to validate across time and space. Here we capitalize on small mammal surveys repeated over a century in Yosemite National Park, USA, to assess accuracy of model predictions. Historical (1900–1940) climate, vegetation, and species occurrence data were used to develop single‐ and multi‐species multivariate adaptive regression spline distribution models for three species of chipmunk. Models were projected onto the current (1980–2007) environmental surface and then tested against modern field resurveys of each species. We evaluated models both within and between time periods and found that even with the inclusion of biotic predictors, climate alone is the dominant predictor explaining the distribution of the study species within a time period. However, climate was not consistently an adequate predictor of the distributional change observed in all three species across time. For two of the three species, climate alone or climate and vegetation models showed good predictive performance across time. The stability of the distribution from the past to present observed in the third species, however, was not predicted by our modeling approach. Our results demonstrate that correlative distribution models are useful in understanding species' potential responses to environmental change, but also show how changes in species‐environment correlations through time can limit the predictive performance of models.
A DOUBLE BLIND STUDY OF VITAMIN B6 IN DOWN'S SYNDROME INFANTS. PART 2—CORTICAL AUDITORY EVOKED POTENTIALS
Authors: Frager Joseph , Barnet Ann , Weiss Ira , Coleman Mary 
Published: July 2010

SUMMARYCortical auditory evoked potentials (CAEPs) were recorded at 1 and at 3 years of age in 19 children with Down's syndrome participating in a double blind trial of vitamin B6 and placebo begun in early infancy and continued for 3 years. CAEPs have previously been shown to have abnormally high amplitude in Down's syndrome patients. The CAEPs of the patients in the B6‐treated and placebo groups were compared. Only minor effects were found in the CAEPs recorded at 1 year of age. At 3 years of age, however, comparison of the B6‐treated group and the placebo group revealed significant differences in both amplitudes and latencies of CAEP components. Peak to peak amplitudes of prominent components were significantly lower in B6‐treated patients than in their placebo controls. Amplitude correlated in some cases with whole blood serotonin levels. Latencies for several prominent evoked peaks were significantly longer in B6‐treated patients.
Klinefelter syndrome and associated Fragile‐X syndrome
Authors: PUESCHEL S. M. , O'BRIEN M. M. , PADRE‐MENDOZA T. 
Published: July 2010

ABSTRACT. During screening of male individuals for Fragile‐X syndrome in a residential facility for persons with mental retardation, the authors found a 21‐year‐old profoundly retarded man who displayed facial features and behaviour suggestive of Fragile‐X syndrome. The chromosome analysis revealed 47, fra(X)(q27)fra(X)(q27)Y. His physically and intellectually normal sister had 14% of X chromosomes with a fragile site. Her two sons, who were subsequently examined, were found to have Fragile‐X syndrome.Thus, the identification of Fragile‐X syndrome in the proband during the screening process of a large institution led to the investigation of the proband's family and the subsequent diagnosis of Fragile‐X syndrome in the proband's two nephews. The ascertainment of the two affected boys permitted prompt introduction of early intervention and special education services. Genetic counselling of other at‐risk family members was carried out.
Digital dermatoglyphics of Turner's syndrome
Authors: RIGNELL A. 
Published: July 2010

ABSTRACT. The proposition that linger print variability between individuals might be reduced by the absence of an X‐diromosome in Turner's syndrome was rejected. In the present study of 58 XO patients, aged 15–50 years, relatives of several cases, unrelated female control samples and three unrelated male samples were investigated. The higher mean value of the TRC among patients supported the hypothesis forwarded by Pcnruse that an added X‐ or Y‐chromosome reduces the TRC and a missing one increasing it. The figures do not speak against the hypothesis that genes affecting the TRC are located on the X‐chromosome.A summary of the major dermatoglyphic investigations in Turner's syndrome is presented.
Musical aptitudes, musical interests and mental retardation
Authors: Miller L. K. 
Published: July 2010

ABSTRACT.A modified version of the Bentley scales of musical aptitude was given to a sample of mild and moderately retarded adults chosen on the basis of alleged musical interest or experience. Several comparison groups were also given the assessment battery. The musical nominees generally performed more accurately than both matched retarded subjects with no particular musical interests and a group of normal children matched on (Wechsler) vocabulary scores. The musical nominees showed especially high performance on the subtest assessing voice analysis in chords.
Paradox, reprimand and extinction in adults with mental handicap
Authors: WOOD V. E. , CHAMOVE A. S. 
Published: July 2010

ABSTRACT.To assess the efficacy of paradoxical directives, levels of challenging behaviour during 2 weeks of paradox, reprimand and extinction were compared with baseline levels in four adults with mental handicaps attending a day centre. Paradox was the most effective procedure for reducing the frequency and severity of challenging behaviour by an average of over 70% by the end of 2 weeks and up lo 90% m certain subjects; extinction was least effective. Paradox was most effective with more defiant subjects, when staff rated treatment success as low., when improvement using extinction and reprimand was poorest, and in reducing aggressive behaviour. The present authors suggest the overjustification effect offers an explsnation for the effects of paradox.
Behavioural continence training in mental handicap: a 10‐year follow‐up study
Authors: HYAMS G. , McCOULL K. , SMITH P. S. , TYRER S. P. 
Published: July 2010

ABSTRACTTen years after continence training, 14 severely and profoundly mentally handicapped individuals were found to have substantially maintained their improvements in bladder control. Completely independent self‐initiated toileting had not been maintained, but the level of prompting to toilet was considerably less than before training. Those who had received intensive individual training fared much better than those who had received less intensive group training. Intensive individual training was found to be cost effective and resulted in very substantial savings in carer time.
Building choice opportunities within occupational programmes for persons with profound developmental disabilities
Authors: LANCIONI G. E. , OLIVA D. , MEAZZINI P. , MARCONI N. 
Published: July 2010

ABSTRACTChoice opportunities were arranged within the occupational programmes of two subjects with profound developmental disabilities. The subject participating in Experiment 1 was already familiar with a computeraided programme aimed at promoting independent occupation. That programme was now extended to allow him to choose activities and reinforcers. He was also exposed to a control programme involving the use of folders with drawings. The subject participating in Experiment 2 had no previous experience with special programmes. For this subject, two versions of a computer‐aided programme were used: one to teach occupational engagement without choice; and the other occupational engagement with choice. The results have shown that the first subjectwas very successful in combining choice behaviour and constructive activity with the computer‐aided programme, but not with the control programme. The second subject learned very rapidly independent activity engagement, but required relatively long time to develop ‘meaningful’ choice behaviour. General implications of the findings are discussed.
The development of learning difliculties in children with Down's syndrome
Authors: WISHART J. G. 
Published: July 2010

ABSTRACTThis paper examines individual developmental profiles drawn from a series of longitudinal studies of cognitive development and problem‐solving in children with Down's syndrome (DS) from birth to 11 years of age. These highlight the difficulties in explaining DS development in terms of a slowed‐down version of normal development and illustrate how, from a very early age, developmental progress in DS is undermined by the children's failure to exercise and maintain existing skills and by their counter‐productive approach to learning new skills. Developmental instability and inefficient learning were found to characterize performance on contingency detection tasks, on tests of obiect concept development, and on standardized intelligence tests. Implications of the findings for assessment, educational practice and developmental theory are discussed.
Children's attitudes toward peers with intellectual disability
Authors: TOWNSEND M. A. R. , WILTON K. M. , VAKILIRAD T. 
Published: July 2010

ABSTRACTThe policy of inclusion (mainstreaming) of children with an intellectual disability in regular schools has raised questions about the extent to which ‘true’ integration is possible. One important aspect of integration is social acceptance by the regular class children. The purpose of this study was to determine the attitudes of children in primary and intermediate classrooms towards children with an intellectual disability housed in satellite classrooms at public schools. Teachers in the satellite classrooms completed a school integration questionnaire. Attitudes towards and the social distance afforded children in satellite classrooms were relatively positive across all children, especially girls. In particular, attitudes were more positive in schools which had more vigorous administrative policies concerning academic and social integration. The results are discussed in terms of current mainstreaming policies for children with intellectual disabilities.
Psychiatry and mental retardation: towards a behavioural pharmacological concept
Authors: TUINIER S. , Verhoeven W. M. A. 
Published: July 2010

ABSTRACTThe rediscovery of psychiatric disorders in mentally retarded subjects has revealed the inadequacy of existing diagnostic and classification systems. The major reason for the limitations of the latter is that such systems have not been developed for application in subjects with substantial intellectual handicaps or other brain dysfunctions. Furthermore, the impact of the different aetiological brain factors is more or less neglected, and so are the specific interrelations between brain dysfunctions and psychiatric symptoms. For a better understanding of the behavioural disorders in mentally retarded subjects, the data from primate studies should be taken into consideration, especially where these suggest a relationship between developmental factors and brain dysfunction. Finally, a functional approach is advocated, linking biological and psychological dysfunctions, that could eventually lead to a socalled functional psychopharmacology.
Fragile‐X and Down's syndrome: are there syndrome‐specific cognitive profiles at low IQ levels?
Authors: Simon E. W. , Rappaport D. A. , Papka Michelle , Woodruff‐Pak D. S. 
Published: July 2010

AbstractIndividuals with either fragile‐X syndrome or Down's syndrome with IQ scores less than 40 were assessed on the Down Syndrome Mental Status Exam. The results of the testing were examined for syndrome‐specific cognitive profiles. No evidence for syndrome‐specific cognitive profiles were found. These same individuals were then classified as high or low IQ, and each group was examined for IQ‐level‐specific profiles. Unique IQ level cognitive profiles were found. Classifying the individuals with regard to aetiology obscured IQ‐level‐specific strengths and weaknesses. Researchers and developers of curricula are cautioned against generalizing cognitive profiles to all IQ levels of a specific genetic syndrome.
Follow‐up studies of a representative sample of children with severe mental handicap in Poland*
Authors: Wald I. , Firkowska‐Mankiewicz A. , Zdzienicka E. , Kalinska A. 
Published: July 2010

AbstractA representative sample of 260 Polish children, aged 5–14 years, Identified between 1964 and 1965 in an epidemiological study as severely mentally handicapped (IQs ranging from 0 to 51) were followed up twice: (I) after 10years(in 1975–1976); and (II) after 23 years (in 1987–1988). At both follow‐ups, all surviving subjects were contacted, and psychological and sociological data were gathered; the findings presented here pertain mostly to follow‐up II. The great majority of subjects (85%) lived with their families, and the remainder resided in an institution. Only 10% of subjects (living with one exception in families) currently had a higher level of intellectual functioning than that of severe mental handicap. Among this group were individuals of relatively better health, without speech disorders, who had attended schools, had some vocational training, had been or were employed, and had families of their own, i.e. were self‐dependent with a life‐style similar to that of other people of their age and social background. Of the remainder, about 40% retained the same relative level of intellectual and social functioning, and about 50% deteriorated, particularly those in institutions. This latter group has remained in the role of permanent children, depending on others for care and maintenance.
The effects of deinstitutionalization on adults with learning disabilities
Authors: Cullen C. , Whoriskey M. , Mackenzie K. , Mitchell W. , Ralston K. , Shreeve S. , Stanley A. 
Published: July 2010

AbstractWe compared a group of people with learning disabilities who have been deinstitutionalized with a control group remaining in an institution on measures of adaptive and maladaptive behaviour, community living skills, social skills, and quality of life. In general, there was no change over 30 months for the control group. Changes for the experimental group were either not seen or were generally modest in scale, and tended to occur within 6 months of moving, the measures staying relatively stable thereafter. Implications for detailed examination of the effects of deinstitutionalization were discussed.
Offending by adults with learning disabilities and the attitudes of staff to offending behaviour: implications for service development
Authors: Lyall I. , Holland A. J. , Collins S. 
Published: July 2010

AbstractThe aims of this study were: (I) to identify all adults with learning disabilities living in residential homes or attending day services in the Cambridge Health District in contact with the criminal justice system during 1992; (2) to evaluate the responses of services involved; and (3) to investigate the attitudes of staff and the policies of the services to ‘offending behaviour'. Details of offences committed and the response of the police, health and social services, and other agencies were obtained by direct interview with the senior staff and through examination of case records. The attitudes of staff to offending behaviour was investigated by the use of a semi‐structured questionnaire. Seven (2%) out of 358 adults with learning disabilities were reported to have had contact with the police during 1992. The eight offences allegedly committed by the seven people were two acquisitive offences, two sexual offences, one assault, one wasting of police time, one offence against the Public Order Act and one traffic offence. One offender was cautioned after the Crown Prosecution Service discontinued the case because of lack of evidence, while the other alleged offenders received informal warnings. None of the seven alleged offenders were prosecuted. Three alleged offenders lived in hostel accommodation, yet hostel accommodation only accounts for 7.8% of adults with learning disabilities living in the Cambridge Health District. Because of a lack of operational policies on offending behaviour, there were no existing referral structures for people who might need specialist health service support. Referrals tended to be inconsistent, with a considerable time‐lag between offence and referral. Tolerance levels towards offending behaviour were extremely high in the two hostels, 20 group homes and day centres which were included in this study. Theft and criminal damage was hardly ever reported. Thirty establishments were visited during the course of this study. Of these establishments, staff in 12 said they would ahvays report a major assault. In only three would a sexual assault or indecent exposure always be reported if it was to occur. Staff at one residential establishment said they would hesitate to report rape and the staff in another two would consider the circumstances before reporting it to the police.
Staffing and staff performance in services for people with severe or profound learning disability and serious challenging behaviour
Authors: Mansell J. 
Published: July 2010

AbstractEighteen people with severe or profound learning disability and very serious challenging behaviour were tracked for four and a half years. Thirteen subjects moved to staffed houses in the community. A multiple time‐series design and direct observation were used to evaluate whether there was any change in staffing and staffcontact. The houses had higher staff ratios and proportionately even higher levels of assistance and other contact with clients, who showed significant improvement in engagement in meaningilil activity without overall increase in major problem behaviour.
Cerebral dominance and schizophrenia‐spectrum disorders in adults with intellectual disability
Authors: Rowe D. , Rudkin A. , Crawford L. 
Published: July 2010

AbstractStudies of the general population without intellectual disability have suggested an association between atypical handedness and schizophrenia‐spectrum disorders (SSDs). Mixed handedness is taken as an index of diminished cerebral dominance or laterality. The present study addressed the question of whether such findings extend to the neurodevelopmentally ‘at risk’ population of adults with intellectual disability and SSDs compared with appropriate controls. Fourteen patients with a dual diagnosis of intellectual disability and SSD were compared with 14 controls with intellectual disability alone. Assessments of self‐reported hand preference and relative hand skill were completed. Self‐report of hand preference revealed highly significantly greater mixed‐handedness in the SSD group. Furthermore, relative hand skill performance was significantly diminished for the dominant hand. The discrepancy between dominant and non‐dominant hand functioning was lower in the SSD group and this association was highly significant. The results of the present study support the usefulness of such detailed laterality assessment in this population. Mixed laterality, over and above that of the population with general intellectual disability and developmental disorder, was associated with SSD. These results are consistent with the neurodevelopmental hypothesis of schizophrenia and its cognitive neuropsychiatric/neuropsychological sequelae.
Treating food refusal in a child with Williams syndrome using the parent as therapist in the home setting
Authors: O'Reilly M. F. , Lancioni G. E. 
Published: July 2010

AbstractThe present authors examined the effectiveness of a behavioural intervention which included escape extinction and differential reinforcement of each bite eaten to treat non‐organic food refusal in a child with Williams syndrome. The intervention was implemented by the child's mother in the home during normal meal schedules. The child was not allowed to leave the meal situation for a predetermined time period and was praised by the mother for each bite consumed. The intervention was evaluated using a multiple baseline design across meals (i.e. breakfast and lunch). The results demonstrate an increase in food consumed and decreases in other inappropriate behaviours. The mother continued to implement the treatment successfully during follow‐up assessments up to 3 months after the intervention. This is a minimally intrusive intervention in comparison to typical treatments for non‐organic food refusal in children with intellectual disabilities.