Case report of Shy-Drager syndrome

The most prominent symptom of Shy-Drager-syndrome is the asympathicotonic postural hypotension. Further vegetative signs are impotence and a loss of thermoregulatoric sweat. The range of complex symptoms which have so far been described have appeared in the vast majority of cases in combination with signs of parkinsonism or with symptoms of multisystemic neurological disturbances. The course of eight years of this disease picture is reported in combination with detailed clinical and electrophysiological examinations as pointers to this rare disease.     

Cerebral laterality in Turner syndrome: a critical review of the literature.

Turner syndrome (TS) is a genetic disorder in females characterized by the complete or partial absence of one X chromosome. Its most consistent physical features include short stature and ovarian dysgenesis. TS individuals demonstrate a characteristic neurocognitive profile involving weaknesses in visuospatial processing. The hypothesis of defective right hemisphere specialization has been offered to explain the visuospatial deficits in TS. In contrast, an alternative explanation proposes a more uniform dysfunction of the left and right hemispheres, based on findings of symmetrical abnormalities. This article presents an overview of the two hypotheses, along with relevant findings on hemispheric specialization with respect to TS. The impact of the genetic and hormonal mechanisms on the neurocognitive profile of TS is also discussed and directions for further empirical research are identified.     

The opercular-subopercular syndrome: four cases with review of the literature

We present four cases of the 'opercular syndrome' of volitional paresis of the facial, lingual, and laryngeal muscles (bilateral facio-glosso-pharyngo-masticatory paresis). Case histories and CT brain images are presented, along with a review of the literature concerning this long-recognized but little-known syndrome. The neuroanatomic basis of the syndrome classically involves bilateral lesions of the frontal operculum. We propose, on the basis of our cases and others, that the identical syndrome can arise from lesions of the corticobulbar tracts, not involving the cortical operculum. Our cases included one with bilateral subcortical lesions, one with a unilateral left opercular lesion and a possible, non-visualized right hemisphere lesion, one with unilateral cortical and unilateral subcortical pathology, and one with bilateral cortical lesions. These lesion localizations suggest that any combination of cortical or subcortical lesions of the operculum or its connections on both sides of the brain can produce a syndrome indistinguishable from the classical opercular syndrome. We propose the new term 'opercular-subopercular syndrome' to encompass cases with predominantly or partially subcortical lesions.     

Risk and dynamics of violence in Asperger's syndrome: A systematic review of the literature

The main purpose of this article is to delineate findings from a review of the literature on the empirical basis for the existence of a relationship between Asperger's syndrome (AS) and violence risk. A second aim is to examine whether certain characteristics of the disorder may have a higher violence-triggering potential. Results of this review show that there are very few empirical studies that confirm a stable link between AS and violence. Only 11 studies involving 22 patients and 29 violent incidents met the criteria for inclusion in the review after the search of the literature. However, a qualitative analysis of the studies yielded some indications of possible patterns of dynamics of violence that may prove to be typical of persons with AS. A tentative comparison of AS and psychopathy indicated that there may be qualitative differences in the characteristics of violent behavior between the disorders. Suggestions for further research are presented.     

Language and communication development in Down syndrome

Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language production and syntax and poor speech intelligibility. This article describes research findings in the language and communication development of individuals with Down syndrome, first briefly describing the physical and cognitive phenotype of Down syndrome, and two communication related domains-hearing and oral motor skills. Next, we describe language development in Down syndrome, focusing on communication behaviors in the prelinguistic period, then the development of language in children and adolescents, and finally language development in adults and the aging period. We describe language development in individuals with Down syndrome across four domains: phonology, semantics, syntax, and pragmatics. Wethen suggest strategies for intervention and directions for research relating to individuals with Down syndrome.     

A developmental study of handedness in Down syndrome pupils.

Assessed hand preference in 7- to 9-yr.-old and 13- to 15-yr.-old pupils with Down syndrome (n = 41) was compared with control schoolchildren (n = 50) of the same ages. A significant increase in left-handedness and mixed-handedness was noted in Down syndrome groups compared with the normal population. Younger Down syndrome pupils were less consistent in their hand preference than the older pupils and the normal controls.     

Speech perception and motor control in children with Down syndrome.

Twelve children with and without Down syndrome (DS) performed eight subtests of an apraxia battery to determine under what conditions children with DS had difficulty performing representational and nonrepresentational gestures. Participants with DS also completed a dichotic listening test. Participants with DS performed just as well as control participants on all aspects of the apraxia battery except a subtest in which they were required to pantomime tool use from verbal instruction. This suggests that children with DS have difficulty generating an action from memory following verbal instruction. Given the sufficient context or visual demonstration, children with DS performed similar to the other participants. As well, there was a great deal of within-group variability for dichotic listening ear advantage. Participants with a greater left ear advantage on the dichotic listening test committed more errors on an imitation test that also included a verbal component than participants with a greater right ear advantage.     

Depression and immunocompetence: a review of the literature.

Recent evidence suggests that there is a relationship between depression and immunity. On the basis of these studies, it has been argued that depressed mood may increase susceptibility to disease by means of aberrations occurring within the immune system. Empirical research investigating the relationship between depression and immunity is reviewed here. Studies examining both clinical and nonclinical manifestations of depression are discussed and evaluated. This review reveals that indexes of immunocompetence are lower among people exhibiting depressive symptomology and suggests that immune alterations may be more related to dysphoric mood than to specific situations or events. Alternative hypotheses accounting for links between depressed affect and altered immune states are provided, and suggestions for future research are offered.     

Cerebral specialization for speech production in persons with Down syndrome.

The study of cerebral specialization in persons with Down syndrome (DS) has revealed an anomalous pattern of organization. Specifically, dichotic listening studies (e.g., Elliott & Weeks, 1993) have suggested a left ear/right hemisphere dominance for speech perception for persons with DS. In the current investigation, the cerebral dominance for speech production was examined using the mouth asymmetry technique. In right-handed, nonhandicapped subjects, mouth asymmetry methodology has shown that during speech, the right side of the mouth opens sooner and to a larger degree then the left side (Graves, Goodglass, & Landis, 1982). The phenomenon of right mouth asymmetry (RMA) is believed to reflect the direct access that the musculature on the right side of the face has to the left hemisphere's speech production systems. This direct access may facilitate the transfer of innervatory patterns to the muscles on the right side of the face. In the present study, the lateralization for speech production was investigated in 10 right-handed participants with DS and 10 nonhandicapped subjects. A RMA at the initiation and end of speech production occurred for subjects in both groups. Surprisingly, the degree of asymmetry between groups did not differ, suggesting that the lateralization of speech production is similar for persons with and persons without DS. These results support the biological dissociation model (Elliott, Weeks, & Elliott, 1987), which holds that persons with DS display a unique dissociation between speech perception (right hemisphere) and speech production (left hemisphere).     

Type specificity of alcoholism. 1. Introduction and review of the literature

It was the aim of this empirical investigation to find out etiologically effective factors of gamma- and delta-alcoholism and condusions for prognosis and prevention. While for gamma-alcoholics an addicted attitude is typical during misuse, for delta-types it is a disposition in the vegetative-somatic range. The prognosis of delta-addicts after attendance and following intensive care is better than that of gamma-alcoholics. During a research period of 3 years a significant increase of delta-types was observed. This trend is explainable only sociologically by the development of drinking patterns in the direction of permissive-functionally disturbed culture. Hence, prevention is possible only by changing drinking patterns.     

Relationships between self-regulation and personality scores of persons with Down syndrome.

This study examined the associations of self-regulation (scores on self-assertion and self control) with personality traits for 76 persons with Down syndrome. Analysis shows self-assertion scores were correlated with scores for all personality traits. The correlations were significant with Emotionality and Playfulness for people with Down syndrome but not for those without Down syndrome (n=40). Self-control scores significantly correlated with scores on controlling and attachment for both groups. Emotionality was related to scores on self-control for students without Down syndrome but not for those with Down syndrome.     

Neural correlates of music recognition in Down syndrome

The brain mechanisms that subserve music recognition remain unclear despite increasing interest in this process. Here we report the results of a magnetoencephalography experiment to determine the temporal dynamics and spatial distribution of brain regions activated during listening to a familiar and unfamiliar instrumental melody in control adults and adults with Down syndrome (DS). In the control group, listening to the familiar melody relative to the unfamiliar melody, revealed early and significant activations in the left primary auditory cortex, followed by activity in the limbic and sensory-motor regions and finally, activation in the motor related areas. In the DS group, listening to the familiar melody relative to the unfamiliar melody revealed increased significant activations in only three regions. Activity began in the left primary auditory cortex and the superior temporal gyrus and was followed by enhanced activity in the right precentral gyrus. These data suggest that familiar music is associated with auditory–motor coupling but does not activate brain areas involved in emotional processing in DS. These findings reveal new insights on the neural basis of music perception in DS as well as the temporal course of neural activity in control adults.     

Alzheimer's disease in Down syndrome: neurobiology and risk

Down syndrome (DS) is characterized by increased mortality rates, both during early and later stages of life, and age-specific mortality risk remains higher in adults with DS compared with the overall population of people with mental retardation and with typically developing populations. Causes of increased mortality rates early in life are primarily due to the increased incidence of congenital heart disease and leukemia, while causes of higher mortality rates later in life may be due to a number of factors, two of which are an increased risk for Alzheimer's disease (AD) and an apparent tendency toward premature aging. In this article, we describe the increase in lifespan for people with DS that has occurred over the past 100 years, as well as advances in the understanding of the occurrence of AD in adults with DS. Aspects of the neurobiology of AD, including the role of amyloid, oxidative stress, Cu/ZN dismutase (SOD-1), as well as advances in neuroimaging are presented. The function of risk factors in the observed heterogeneity in the expression of AD dementia in adults with DS, as well as the need for sensitive and specific biomarkers of the clinical and pathological progressing of AD in adults with DS is considered.     

Psychiatric and behavioral disorders in persons with Down syndrome

Similar to the state of the broader intellectual disabilities field, many gaps exist in the research and treatment of mental health concerns in people with Down syndrome. This review summarizes key findings on the type and prevalence of behavior and emotional problems in children, adolescents, and adults with Down syndrome. Such findings include relatively low rates of severe problems in children, and well-documented risks of depression and Alzheimer's disease in older adults. The review also considers emerging data on autism, and the paucity of studies on adolescents. Three next steps for research are highlighted, including a need to: (1) connect research on psychiatric status and diagnoses across developmental periods, including adolescence, and to examine such associated processes as sociability, anxiety and attention; (2) unravel complicated biopsycho-social risk and protective factors that serve to increase or diminish psychopathology; and (3) identify evidence-based treatments that both reduce distressful symptoms and enhance well-being in individuals with Down syndrome.     

Locus of control and biofeedback: a review of the literature.

This paper first reviews studies which have investigated the efficacy of using locus of control orientation to predict performance in various modes of biofeedback. However, contradictory evidence and methodological problems make it impossible to draw any conclusions regarding the connection between internality-externality and biofeedback performance. Second, various attempts to modify externality through biofeedback treatment are reviewed. Although EMG feedback can apparently be used to shift locus of control in an internal direction, there are some major issues that need to be resolved. Of primary importance is the fact that the rationale for modifying externality is based on an unproven assumption that externality has a role in the causation of various undesirable behaviors. Also, as no follow-up testing has been done, there is no evidence that the EMG biofeedback causes relatively permanent, stable locus of control changes. If the shifts are only temporary, then its use as a modifier of externality is questionable.     

The preparation of reach to grasp movements in adults with Down syndrome.

The aim of this study was to determine the extent to which adults with Down syndrome (DS) are able to utilise advance information to prepare reach to grasp movements. The study comprised ten adults with DS; ten children matched to an individual in the group with DS on the basis of their intellectual ability, and twelve adult controls. The participants used their right hand to reach out and grasp illuminated perspex blocks. Four target blocks were positioned on a table surface, two to each side of the midsagittal plane. In the complete precue condition, participants were provided with information specifying the location of the target. In the partial precue condition, participants were given advance information indicating the location of the object relative to the midsagittal plane (left or right). In the null condition, advance information concerning the position of the target object was entirely ambiguous. It was found that both reaction times and movement times were greater for the participants with DS than for the adults without DS. The reaction times exhibited by individuals with DS in the complete precue condition were lower than those observed in the null condition, indicating that they had utilised advance information to prepare their movements. In the group with DS, when advance information specified only the location of the target object relative to the midline, reaction times were equivalent to those obtained when ambiguous information was given. In contrast, the adults without DS exhibited reaction times that were lower in both the complete and partial precue conditions when compared to the null condition. The pattern of results exhibited by the children was similar to that of the adults without DS. The movement times exhibited by all groups were not influenced by the precue condition. In summary, our findings indicate that individuals with DS are able to use advance information if it specifies precisely the location of the target object in order to prepare a reach to grasp movement. The group with DS were unable, however, to obtain the normal advantage of advance information specifying only one dimension of the movement goal (i.e., the position of an object relative to the body midline).     

Adrenoleukodystrophy. Clinical-pathologic case history and literature review]

This article presents the clinical and pathological history of a 10-year-old boy with adrenoleukodystrophy as well as a tabular survey of 17 additional cases of which the necropsy records were published in the literature. So far as the case of adrenoleukodystrophy directly observed by the authors themselves is concerned, commencement of the disease was in the seventh year of life, with symptoms of Addison's disease and diffuse inflammatory cerebral sclerosis being observed at about the same time. The cerebral disease manifested itself as a progressive pseudobulbar and pyramidal tract symptomatology and as a progressive cerebral psychosyndrome reminiscent of an endocrinal psychosyndrome. Morphologically, the adrenoleukodystrophy was characterized by severe dystrophy of the cortex of the suprarenal gland and the brain are considered the points of action of a still unknown noxa.e suprarenal gland as well as by extensive sudanophilic processes of decomposition in the cerebromedullary substance, putamen, pallidum, and thalamus. Striated cells and cytoplasmic filamentous inclusions observed in the brain and suprarenal glands in a number of cases reported in the literature were not found by the present authors. The cortex of th