677 research outputs found
Cognitive, Behavioral, and Adaptive Functioning in Fragile X and Non-Fragile X Retarded Men
The cognitive, behavioral, and adaptive functioning of 12 men with fragile X syndrome (aged 23 to 62 years) was systematically assessed and compared to two matched groups of retarded men without fragile X syndrome residing at the same institution. The fragile X group was largely indistinguishable from the comparison groups on the cognitive, behavioral, and adaptive measures. Fragile X patients were, however, significantly more likely to have achieved levels of adaptive functioning commensurate with their intellectual abilities. Fragile X subjects who had similarly affected siblings emerged as significantly higher-functioning in all areas than Fragile X subjects who did not have affected siblings. These findings are discussed with respect to future research
Primary maternal preoccupation revisited: circuits, genes, and the crucial role of early life experience
Parental caregiving includes a set of highly conserved set of behaviors and mental states that may reflect both an individual’s genetic endowment and the early experience of being cared for as a child. This review first examines the mental and behavioral elements of early parental caregiving in humans. Second, we consider what is known of the neurobiological substrates of maternal behaviors in mammalian species including some limited human data. Third, we briefly review the evidence that specific genes encode proteins that are crucial for the development of the neural substrates that underlie specific features of maternal behavior. Fourth, we review the literature on the “programming” role of epigenetic factors in shaping subsequent maternal behavior. We conclude that there are critical developmental windows during which the genetically determined microcircuitry of key limbic-hypothalamic-midbrain structures are susceptible to early environmental influences and that these influences powerfully shape an individual’s responsivity to psychosocial stressors and their resiliency or vulnerability to various forms of human psychopathology later in life.South African Psychiatry Review - May 200
A Multicenter Examination and Strategic Revisions of the Yale Global Tic Severity Scale
Objective To examine the internal consistency and distribution of the Yale Global Tic Severity Scale (YGTSS) scores to inform modification of the measure. Methods This cross-sectional study included 617 participants with a tic disorder (516 children and 101 adults), who completed an age-appropriate diagnostic interview and the YGTSS to evaluate tic symptom severity. The distributions of scores on YGTSS dimensions were evaluated for normality and skewness. For dimensions that were skewed across motor and phonic tics, a modified Delphi consensus process was used to revise selected anchor points. Results Children and adults had similar clinical characteristics, including tic symptom severity. All participants were examined together. Strong internal consistency was identified for the YGTSS Motor Tic score (α = 0.80), YGTSS Phonic Tic score (α = 0.87), and YGTSS Total Tic score (α = 0.82). The YGTSS Total Tic and Impairment scores exhibited relatively normal distributions. Several subscales and individual item scales departed from a normal distribution. Higher scores were more often used on the Motor Tic Number, Frequency, and Intensity dimensions and the Phonic Tic Frequency dimension. By contrast, lower scores were more often used on Motor Tic Complexity and Interference, and Phonic Tic Number, Intensity, Complexity, and Interference. Conclusions The YGTSS exhibits good internal consistency across children and adults. The parallel findings across Motor and Phonic Frequency, Complexity, and Interference dimensions prompted minor revisions to the anchor point description to promote use of the full range of scores in each dimension. Specific minor revisions to the YGTSS Phonic Tic Symptom Checklist were also proposed
Gray’s revised Reinforcement Sensitivity Theory in relation to Attention-Deficit/Hyperactivity and Tourette-like behaviors in the general population
Attention-Deficit/Hyperactivity Disorder (ADHD) and Tourette Syndrome (TS) present as distinct conditions clinically; however, they show comorbidity and inhibitory control deficits have been proposed to underlie both. The role of reinforcement sensitivity in ADHD has been studied previously, but no study has addressed this in relation to TS-like behaviors in the general population. The present study examined these associations within the remit of the revised Reinforcement Sensitivity Theory (rRST). One hundred and thirty-eight participants completed psychometric measures of the rRST, and self-report checklists for ADHD- and TS-like behaviors
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Visuo-spatial cognition in Williams syndrome: Reviewing and accounting for the strengths and weaknesses in performance
Individuals with Williams syndrome typically show relatively poor visuo-spatial abilities in comparison to stronger verbal skills. However, individuals' level of performance is not consistent across all visuo-spatial tasks. The studies assessing visuo-spatial functioning in Williams syndrome are critically reviewed, in order to provide a clear pattern of the relative difficulty of these tasks. This prompts a possible explanation of the variability in performance seen which focuses on the processing demands of some of these tasks. Individuals with Williams syndrome show an atypical processing style on tests of construction, which does not affect tests of perception
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Lessons Learned from Open-label Deep Brain Stimulation for Tourette Syndrome: Eight Cases over 7 Years
Background: Deep brain stimulation (DBS) remains an experimental but promising treatment for patients with severe refractory Gilles de la Tourette syndrome (TS). Controversial issues include the selection of patients (age and clinical presentation), the choice of brain targets to obtain optimal patient-specific outcomes, and the risk of surgery- and stimulation-related serious adverse events. Methods: This report describes our open-label experience with eight patients with severe refractory malignant TS treated with DBS. The electrodes were placed in the midline thalamic nuclei or globus pallidus, pars internus, or both. Tics were clinically assessed in all patients pre- and postoperatively using the Modified Rush Video Protocol and the Yale Global Tic Severity Scale (YGTSS). Results: Although three patients had marked postoperative improvement in their tics (>50% improvement on the YGTSS), the majority did not reach this level of clinical improvement. Two patients had to have their DBS leads removed (one because of postoperative infection and another because of lack of benefit). Discussion Our clinical experience supports the urgent need for more data and refinements in interventions and outcome measurements for severe, malignant, and medication-refractory TS. Because TS is not an etiologically homogenous clinical entity, the inclusion criteria for DBS patients and the choice of brain targets will require more refinement
Tourette’s disorder and other tic disorders in DSM-5: a comment
Classification of tic disorders will be revised in the forthcoming edition of the Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5). We do not support the suggestion to move tic disorders to “Anxiety and Obsessive–Compulsive Disorders”, if the section “Disorders Usually First Diagnosed in Infancy, Childhood, or Adolescence” is not retained. Other than that, most proposed changes of the criteria for tic disorders contain a number of welcome improvements, e.g., the more unified definition of tics including the removal of the term “stereotyped” and the better capture of the temporal pattern of tics (e.g., removal of the maximum 3 months criterion for a tic-free period in chronic tic disorders). But, unfortunately there are some inconsistencies in detail, e.g., the unification of diagnostic criteria for tic disorders had not been consistently pursued in transient tic disorder. In sum, the proposed DSM-5 criteria could be seen as an important step forward particularly in clinical routine. However, continued research is needed to justify the existing and proposed classification of tic disorders as well as to better clarify what other changes should be made in the DSM-5 and beyond
Exploratory analysis of obsessive compulsive symptom dimensions in children and adolescents: a Prospective follow-up study
BACKGROUND: Recent statistical approaches based on factor analysis of obsessive compulsive (OC) symptoms in adult patients have identified dimensions that seem more effective in symptom-based taxonomies and appear to be more stable over time. Although a phenotypic continuum from childhood to adulthood has been hypothesized, no factor analytic studies have been performed in juvenile patients, and the stability of OC dimensions in children and adolescents has not been assessed. METHODS: This study was designed to perform an exploratory factor analysis of OC symptoms in a sample of children and adolescents with OC disorder (OCD) and to investigate the course of factors over time (mean follow-up period: four years). RESULTS: We report for the first time that four symptom dimensions, remarkably similar to those previously described in adults, underlined the heterogeneity of OC symptoms in children and adolescents. Moreover, after follow-up, the symptom dimensions identified remained essentially unmodified. The changes observed concerned the intensity of dimensions rather than shifts from one dimension to another. CONCLUSION: These findings reinforce the hypothesis of a phenotypic continuum of OC symptoms from childhood to adulthood. They also strengthen the interest for investigating the clinical, neurobiological and genetic heterogeneity of OCD using a dimension-based approach
The 'At-risk mental state' for psychosis in adolescents : clinical presentation, transition and remission.
Despite increased efforts over the last decade to prospectively identify individuals at ultra-high risk of developing a psychotic illness, limited attention has been specifically directed towards adolescent populations (<18 years). In order to evaluate how those under 18 fulfilling the operationalised criteria for an At-Risk Mental State (ARMS) present and fare over time, we conducted an observational study. Participants (N = 30) generally reported a high degree of functional disability and frequent and distressing perceptual disturbance, mainly in the form of auditory hallucinations. Seventy percent (21/30) were found to fulfil the criteria for a co-morbid ICD-10 listed mental health disorder, with mood (affective; 13/30) disorders being most prevalent. Overall transition rates to psychosis were low at 24 months follow-up (2/28; 7.1 %) whilst many participants demonstrated a significant reduction in psychotic-like symptoms. The generalisation of these findings may be limited due to the small sample size and require replication in a larger sample
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