Fluency disorders in genetic syndromes

The characteristics of various genetic syndromes have included “stuttering” as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list “stuttering” as a characteristic of that syndrome. An extensive review of these syndromes indicated clients diagnosed with these syndromes do show evidence of nonfluency patterns, but not all would be considered stuttering. Many of the syndromes are marked by degrees of mental retardation that probably contribute to a higher than average prevalence of stuttering, as well as a higher than average prevalence of other fluency disorders (when compared to the population at large).

An in-depth analysis of the available data indicates that some of these genetic syndromes show patterns of stuttering that may be indicative of only that syndrome (or similar syndromes) that can be differentially diagnosed from developmental stuttering. Among these patterns are the word-final nonfluencies noted in Prader-Willi syndrome; the presence of stuttering in the absence of secondary behaviors noted in Prader-Willi syndrome and; the presence of palilalia, word-final and word-medial nonfluencies, and word-medial and word-final nonfluencies in Tourette syndrome. Implications for future research are discussed in light of these findings.

Educational objectives: The reader will be able to: (1) describe the various different genetic syndromes that are associated with fluency disorders; (2) describe the types of nonfluencies that are associated with the major types of genetic syndromes that have fluency disorders; (3) describe the behaviors that may assist in differentially diagnosing different types of speech characteristics associated with various genetic syndromes.     

Sleep and Immunity: Cytokine Pathways Linking Sleep and Health Outcomes

ABSTRACT— The functions of sleep are enigmatic but are beginning to be delineated. Sleep has been long thought to be important for health, and poor sleep is prospectively associated with worsened health outcomes. Yet the mechanisms accounting for this are only partially understood. In this review, we suggest that the immune system plays a role in the relationship between sleep and health and that sleep processes and immunity show bidirectional interactions, as evidenced in both animal and human studies. Immunological signaling molecules, termed cytokines, are important in coordinating brain–immune system communication, and particular cytokines such as tumor necrosis factor, interleukin-1, and interleukin-6 play a crucial role in sleep regulation. Elevated levels of these cytokines are also associated with a number of chronic diseases and may provide a pathway linking poor sleep with health outcomes.     

兰恩存在精神病学的心理治疗观

兰恩是20世纪英国著名的存在主义精神病学家,在反对传统精神病学诊疗观的基础上,提出了独特的存在精神病学的心理治疗观。在精神疾病的诊断上,兰恩主张从存在主义——现象学的视角来理解精神疾病,要从一个人的环境或背景中来理解他的行为。在精神疾病的心理治疗上,兰恩强调通过改变患者的生存环境来促进其自我恢复。     

Psychogenic Nonepileptic Seizures

Neurological, neurodiagnostic, and neuropsychological aspects of psychogenic nonepileptic seizures (PNES) are reviewed, including psychosocial, psychiatric, cognitive, and MMPI-2 findings.     

The effect of inpatient cognitive-behavioral therapy for eating disorders on temperament and character

Personality traits seem to have an important role in the development, clinical expression, course, and treatment response in eating disorders (EDs). We investigated the effects of an inpatient cognitive-behavioral treatment (CBT) on the measures of temperament and character (Temperament and Character Inventory (TCI)) in 149 consecutive patients with EDs. Baseline assessment included anthropometry, the Eating Disorder Examination (EDE), the Beck Depression Inventory (BDI), and the TCI. Treatment was based on the transdiagnostic cognitive behavior theory and treatment of ED, adapted for an inpatient setting. Treatment effects were tested by paired ANOVA, adjusted for covariates. No effects were found on Novelty Seeking, Reward Dependence, and Cooperativeness. Harm Avoidance (F=18.17, p<0.001), Persistence (F=7.71, p=0.006), Self-Directedness (F=27.55, p<0.001), and Self Transcendence (F=16.38, p<0.001) significantly changed after treatment. Changes in TCI scores were wholly dependent on the changes in BDI and EDE, and independent of ED diagnosis and behavior and of BMI changes. We conclude that in ED, a few scales of both temperament and character are significantly modified by CBT, in relation to changes in psychopathology and depression, independently of nutrition. These results are relevant for future studies based on TCI.     

Impact of acceptance and commitment therapy versus education on stigma toward people with psychological disorders

Acceptance and commitment therapy (ACT) has previously been shown to alter stigmatizing attitudes and to be relatively useful for psychologically inflexible participants. The present study is the first to bring those two findings together by comparing ACT to an education intervention for reducing stigma toward people with psychological disorders, and examining whether results differ for psychologically inflexible versus flexible individuals. A sample of college students (N =95) was randomly assigned to a 2(1)2h ACT or educational workshop. Measures were taken before and after the workshop and at a 1-month follow-up. ACT reduced mental health stigma significantly regardless of participants' pre-treatment levels of psychological flexibility, but education reduced stigma only among participants who were relatively flexible and non-avoidant to begin with. Acceptance could be an important avenue of exploration for stigma researchers.     

Effectiveness of treatment of childhood memories in cognitive therapy for personality disorders: a controlled study contrasting methods focusing on the present and methods focusing on childhood memories

This study tested the hypothesis that treatment of childhood memories is an effective way to change personality disorder related schemas and psychopathology in cognitive therapy for personality disorders. To test this hypothesis, a crossover design was used to compare the effectiveness of methods focusing on the present and methods focusing on childhood memories. After the exploration period, the therapist focused either first on the present during 24 sessions and than for 24 sessions on childhood memories, or followed the reverse order. Twenty-one patients with one or more Axis II disorders were included. Participants were randomly assigned to order of focus. Results indicate that CT methods focusing on childhood memories produce good outcomes, comparable to those of methods focusing on the present. There was no significant effect of order, but both patients and therapists preferred the past-present order. Total effects of the package were large and were maintained till one-year follow-up (d's 0.97-1.90). Experience of the therapist with CT for personality disorders was related to better outcome (d=0.73).     

Recommendations from Multi-disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X-associated Disorders

The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Davis, the National Fragile X Foundation (NFXF), and the Centers for Disease Control and Prevention (CDC). The objective of this collaboration was to develop and disseminate protocols for genetic counseling and cascade testing for the multiple disorders associated with the fragile X mental retardation 1 (FMR1) mutation. Over the last several years, there has been increasing insight into the phenotypic range associated with both the premutation and the full mutation of the FMR1 gene. To help develop recommendations related to screening for fragile X-associated disorders, four, two day advisory focus group meetings were conducted, each with a different theme. The four themes were: (1) fragile X-associated tremor/ataxia syndrome (FXTAS); (2) premature ovarian failure (POF) and reproductive endocrinology; (3) psychiatric, behavioral and psychological issues; and (4) population screening and related ethical issues.     

Knowledge and Beliefs about Bulimia Nervosa and its Treatment: A Comparative Study of Three Disciplines

Poor Mental Health Literacy (MHL), i.e. knowledge and beliefs about bulimia nervosa (BN), among health professionals may contribute to low rates of recognition and less optimal management. The aim of this study was to investigate the BN-MHL of health professionals. A total of 534 professionals selected randomly from Internet based lists were surveyed with a MHL questionnaire regarding a fictional vignette of a woman with BN. One hundred and thirty-six dieticians, 68 psychologists and 97 counselors, total 56% (n = 301) responded. The majority of respondents indicated the woman in the vignette suffered from BN (49%) or an eating disorder (20%) and endorsed evidenced based approaches. On post hoc between group analyses there was a trend (p = .02) for dieticians and psychologists to be more likely than counselors to accurately identify the diagnosis of BN. Dieticians and psychologists were also more likely than counselors to endorse a psychologist as the most helpful treatment provider (p<.001) and to be more likely to endorse cognitive behavioral therapy as the most helpful treatment (p<.001). These results indicate a need for greater training and support for non specialist primary care health professionals.     

The impact of post-learning sleep vs. wakefulness on recognition memory for faces with different facial expressions

A beneficial effect of sleep after learning, compared to wakefulness, on memory formation has been shown in many studies using a variety of tasks. However, none of these studies has specifically addressed recognition memory for faces so far. The recognition of familiar faces, together with the extraction of emotional information from facial expression, is a fundamental cognitive skill in human everyday life, for which specific neural systems and mechanisms of processing have been developed. Here, we investigated the role of post-learning sleep for later recognition memory for neutral, happy, and angry faces. Twelve healthy subjects, after judging the emotional valence of the faces in the evening (learning phase), either slept normally in the subsequent night, with sleep recorded polysomnographically (sleep condition), or remained awake (wake condition) according to a cross-over design. Recognition testing took place in the second evening after learning, i.e. after a further night of regular sleep spent at home. Sleep after learning, compared to wakefulness, enhanced memory accuracy in recognition memory. This effect was independent of the emotional valence of facial expression. The response criterion at recognition testing did not differ between sleep and wake conditions. The amount of non rapid eye movement (NonREM) sleep during post-learning sleep correlated positively with memory accuracy at recognition testing, while time in REM sleep was associated with a speeded responding to the learned faces. Results suggest that face recognition, despite its dependence on specialized brain systems, nevertheless relies on the general neural mechanisms of sleep-associated memory consolidation.