Genetic counseling for a family with two distinct anomalies: A case report of a neural tube defect and 5p- syndrome in a fetus

A couple presented for genetic counseling because of an elevated maternal serum alpha fetoprotein. Ultrasound examination revealed the presence of a neural tube defect. The couple declined an amniocentesis, but chose serial ultrasound evaluations instead. Ultrasounds eventually identified microcephaly, but the couple continued to decline amniocentesis. After the child's birth, the diagnosis of 5p- syndrome was made. The couple's decision not to have an amniocentesis allowed the family their right to autonomy; however, prenatal chromosome analysis would have provided this couple with a great deal more prognostic information. We discuss the conflict between a counselor's duty to respect a client's freedom vs. duty to care for a client's welfare. We address issues of nondirective counseling and the need for more studies looking at the decision-making process in prenatal diagnosis.     

A double-blind,sham-controlled,trial of home-administered rhythmic 10-Hz median nerve stimulation for the reduction of tics,and suppression of the urge-to-tic,in individuals with Tourette syndrome and chronic tic disorder

Tourette syndrome (TS) and chronic tic disorder (CTD) are neurological disorders of childhood onset characterized by the occurrence of tics; repetitive, purposeless, movements or vocalizations of short duration which can occur many times throughout a day. Currently, effective treatment for tic disorders is an area of considerable unmet clinical need. We aimed to evaluate the efficacy of a home-administered neuromodulation treatment for tics involving the delivery of rhythmic pulse trains of median nerve stimulation (MNS) delivered via a wearable ‘watch-like’ device worn at the wrist. We conducted a UK-wide parallel double-blind sham-controlled trial for the reduction of tics in individuals with tic disorder. The device was programmed to deliver rhythmic (10 Hz) trains of low-intensity (1–19 mA) electrical stimulation to the median nerve for a pre-determined duration each day, and was intended to be used by each participant in their home once each day, 5 days each week, for a period of 4 weeks. Between 18th March 2022 and 26th September 2022, 135 participants (45 per group) were initially allocated, using stratified randomization, to one of the following groups; active stimulation; sham stimulation or to a waitlist (i.e. treatment as usual) control group. Recruited participants were individuals with confirmed or suspected TS/CTD aged 12 years of age or upward with moderate to severe tics. Researchers involved in the collection or processing of measurement outcomes and assessing the outcomes, as well as participants in the active and sham groups and their legal guardians were all blind to the group allocation. The primary outcome measure used to assess the ‘offline’ or treatment effect of stimulation was the Yale Global Tic Severity Scale–Total Tic Severity Score (YGTSS–TTSS) assessed at the conclusion of 4 weeks of stimulation. The primary outcome measure used to assess the ‘online’ effects of stimulation was tic frequency, measured as the number of tics per minute (TPM) observed, based upon blind analysis of daily video recordings obtained while stimulation was delivered. The results demonstrated that after 4-week stimulation, tic severity (YGTSS-TTSS) had reduced by 7.1 points (35 percentile reduction) for the active stimulation group compared to 2.13/2.11 points for the sham stimulation and waitlist control groups. The reduction in YGTSS–TTSS for the active stimulation group was substantially larger, clinically meaningful (effect size = .5) and statistically significant (p = .02) compared to both the sham stimulation and waitlist control groups, which did not differ from one another (effect size = −.03). Furthermore, blind analyses of video recordings demonstrated that tic frequency (tics per minute) reduced substantially (−15.6 TPM) during active stimulation compared to sham stimulation (−7.7 TPM). This difference represents a statistically significant (p < .03) and clinically meaningful reduction in tic frequency (>25 percentile reduction: effect size = .3). These findings indicate that home-administered rhythmic MNS delivered through a wearable wrist-worn device has the potential to be an effective community-based treatment for tic disorders.     

Social cognition and real-life functioning in patient samples with 22q11.2 deletion syndrome with or without psychosis,compared to a large sample of patients with schizophrenia only and healthy controls

Patients with the 22q11.2 deletion syndrome (DS) show an increased risk of developing a psychotic illness lifetime. 22q11.2DS may represent a reliable model for studying the neurobiological underpinnings of schizophrenia. The study of social inference abilities in a genetic condition at high risk for psychosis, like 22q11.2DS, may shed light on the relationships between neurocognitive processes and patients' daily general functioning. The study sample consisted of 1736 participants, divided into four groups: 22q11.2DS patients with diagnosis of psychotic disorder (DEL SCZ, N = 20); 22q11.2DS subjects with no diagnosis of psychosis (DEL, N = 43); patients diagnosed with schizophrenia without 22q11.2DS (SCZ, N = 893); and healthy controls (HC, N = 780). Social cognition was assessed through The Awareness of Social Inference Test (TASIT) and general functioning through the Specific Levels of Functioning (SLoF) scale. We analysed data through regression analysis. The SCZ and DEL groups had similar levels of global functioning; they both had significantly lower SLoF Total scores than HC (p < .001); the DEL SCZ group showed significantly lower scores compared to the other groups (SCZ, p = .004; DEL, p = .003; HC, p < .001). A significant deficit in social cognition was observed in the three clinical groups. In the DEL SCZ and SCZ groups, TASIT scores significantly predicted global functioning (p < .05). Our findings of social cognition deficit in psychosis-prone patients point to the possible future adoption of rehabilitation programmes, like Social Skills Training and Cognitive Remediation, during premorbid stages of psychosis.     

Differential effects of the menstrual cycle on reactive and proactive aggression in borderline personality disorder

Borderline personality disorder (BPD) is characterized by rapidly shifting symptoms, including intense anger and aggressive behavior. Understanding how fluctuations in ovarian hormones across the menstrual cycle may contribute to symptom instability is key for accurate assessment of BPD symptoms and effective interventions. Reactive and proactive aggression, as well as anger-in and anger-out, were assessed daily in 15 physically healthy, unmedicated naturally cycling female individuals meeting criteria for BPD across 35 days. Urine luteinizing hormone surge and salivary progesterone were used to confirm ovulation and verify the cycle phase. Multilevel models evaluated cyclical differences of symptoms between cycle phases. Both forms of aggressive behavior demonstrated marked cycle effects, with reactive aggression highest during the midluteal cycle phase, co-occurring with initial increases in anger and irritability and followed by perimenstrual peaks in anger and anger-in. In contrast, highest levels of proactive aggression were observed during the follicular and ovulatory phases, when emotional symptoms and anger were otherwise at lowest levels. These findings highlight the importance of identifying the function of aggression when considering potential psychological and biological influences. Naturally cycling individuals with BPD may be at elevated risk for luteal worsening of a range of interpersonally reactive symptoms, including reactive aggression, whereas proactive aggression may occur more in phases characterized by less emotional and cognitive vulnerability and greater reward sensitivity. Research on aggression in this population should consider cycle effects. Cycling individuals with BPD attempting to reduce aggressive behavior may benefit from cycle-tracking to increase awareness of these effects and to develop appropriate strategies.     

夜间进食综合征的研究进展

夜间进食综合征是一种表现为早晨没有食欲、晚饭后过量进食或夜间醒来进食的饮食障碍,并且与睡眠问题相关。在国内外文献进行分析研究的基础上,本文先后介绍了夜食症的概念内涵、发病的生理神经机制及主要的干预措施和治疗手段,并对现有研究的不足进行总结,提出了未来研究的方向,旨在为研究者在此领域的进一步探索提供参考。     

Psychological maladjustment mediates the link between remembrances of parental rejection in childhood and loneliness in adulthood: A cross-cultural comparative study

Drawing stimulus from interpersonal acceptance-rejection theory, this multicultural study examined relations between men's versus women's remembrances of maternal and paternal acceptance-rejection in childhood and their current level of loneliness, as mediated by adults' self-reported psychological maladjustment. Adults (N = 899) from five nations (Iraq, Italy, the Netherlands, Pakistan, and the United States) responded to the Adult version of the Parental Acceptance-Rejection Questionnaire-short form for mothers and fathers, the Adult version of the Personality Assessment Questionnaire-short form, and the Interpersonal Acceptance-Rejection Loneliness Scale. Adults' remembrances of maternal and paternal rejection in childhood significantly and independently predicted feelings of loneliness but remembered paternal rejection was more strongly related to these feelings than were remembrances of maternal rejection. Psychological maladjustment fully mediated the effect of remembered maternal rejection but only partially mediated the effect of remembered paternal rejection on loneliness. There were no significant differences in these results across the five countries or genders. Overall, the results suggest that adults' remembrances of parental rejection in childhood—along with the theoretically expected development of psychological maladjustment—are likely to be associated panculturally with the experience of loneliness in adulthood.     

Behavioral and pharmacological treatments for tourette syndrome: A review

This article reviews the published treatment outcome research on pharmacological and behavioral treatments for Gilles de la Tourette syndrome (TS). Controlled group outcome studies of pharmacological treatments show about a 50–60% reduction in tics with haloperidol and pimozide and about a 20% reduction with clonidine. A controlled group outcome study and several within-subject design studies of behavioral treatments show about a 90% reduction in tics with habit reversal training. A large number of case studies generally confirm these results and also show benefits from other behavioral treatments such as relaxation training, self-monitoring, and contingency management. Clinical limitations of TS drugs are that they produce side effects in 50–85% of the patients and require continuous use, and long-term compliance with the medications is limited. The primary limitation of behavioral treatments is that they require a large initial time commitment. The methodological strengths of the controlled drug studies are the use of double-blind and group designs. For the behavioral studies, the strengths are rigorous recording and controlled within-subject designs.     

Object recognition with severe spatial deficits in Williams syndrome: sparing and breakdown

Williams syndrome (WS) is a rare genetic disorder that results in severe visual-spatial cognitive deficits coupled with relative sparing in language, face recognition, and certain aspects of motion processing. Here, we look for evidence for sparing or impairment in another cognitive system-object recognition. Children with WS, normal mental-age (MA) and chronological age-matched (CA) children, and normal adults viewed pictures of a large range of objects briefly presented under various conditions of degradation, including canonical and unusual orientations, and clear or blurred contours. Objects were shown as either full-color views (Experiment 1) or line drawings (Experiment 2). Across both experiments, WS and MA children performed similarly in all conditions while CA children performed better than both WS group and MA groups with unusual views. This advantage, however, was eliminated when images were also blurred. The error types and relative difficulty of different objects were similar across all participant groups. The results indicate selective sparing of basic mechanisms of object recognition in WS, together with developmental delay or arrest in recognition of objects from unusual viewpoints. These findings are consistent with the growing literature on brain abnormalities in WS which points to selective impairment in the parietal areas of the brain. As a whole, the results lend further support to the growing literature on the functional separability of object recognition mechanisms from other spatial functions, and raise intriguing questions about the link between genetic deficits and cognition.     

Personality traits in women with Turner syndrome

Turner syndrome is caused by the total or partial absence of, or structural abnormalities in, one sex chromosome. A personality style characterized by traits related to low neuroticism and high extroversion has been reported for females with Turner syndrome, indicating possible genetic factors related to personality development. This study examines personality traits in 37 Swedish women with Turner syndrome using the Karolinska Scales of Personality Inventory. Compared to reference data, the subjects rated themselves as more sensation seeking, less detached, less verbally aggressive and less irritated. These results partially support previous findings. The subjects were divided into three karyotype groups: 45,X (n = 13), 45,X/46,XX or 45,X/45,XY (n = 13), and structural abnormalities (n = 11). Contrary to some previous findings, no differences in personality were found between the karyotype groups.     

The Diving Bell Meets the Butterfly: Identity Lost andRe-Membered

Jean Dominique Bauby, former editor of Elle, suffereda stroke to his brain stem that left him with locked-in syndrome. Subsequently, through blinking his left eye, he writes his memoirof this experience, The Diving Bell and the Butterfly. Thispaper explores the meaning of embodiment, especially as one'sbody bears upon one's personal identity. It explores the variouschallenges and threats to selfhood that result from Bauby'sexperience and recounts how Bauby rises to the challenge throughhis memory and imagination.