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Familial and sporadic non-rapid eye movement parasomnia in adults: clinical and sleep differences.

STUDY OBJECTIVES: The heritable trait of non-rapid eye movement (NREM) parasomnias is well known, but differences between sporadic and familial phenotypes have not been studied. The aim of our study was to evaluate, in a clinical series of adults with NREM parasomnias, clinical and sleep differences between familial versus sporadic forms, and between childhood versus adolescent versus adult-onset forms. METHODS: We prospectively collected clinical features, family history, questionnaires (Epworth Sleepiness Score and Paris Arousal Disorders Severity Scale (PADSS)), and video-polysomnography measures from patients with NREM parasomnias confirmed by video-polysomnography, admitted over a 12-year period. Familial NREM parasomnia was defined as having at least one relative of the index case with NREM parasomnia. RESULTS: Of the 625 consecutive adults with NREM parasomnias, 50% had a family history of NREM parasomnia (most commonly parents, followed by siblings, then children). Compared to those with sporadic NREM parasomnias, participants with familial NREM parasomnias had an earlier age of onset and greater severity of NREM parasomnias (according to the PADSS). They were more likely to report sleepwalking, sleep terrors, and a combination of parasomniac manifestations (but no more confusional arousals or sleep-related eating disorders), and were less likely to report sexsomnia. In contrast, monthly episode frequency, sleepiness score, sleep structure, and EEG and behavioral markers of NREM parasomnias did not differ between groups. CONCLUSIONS: Familial NREM parasomnias have a typical phenotype with an earlier age of onset and a more severe clinical course. This phenotyping may guide medical care and future genetic studies.

Humans

Clinical impact of obsessive-compulsive disorder comorbidity in bipolar disorder: a systematic review and meta-analysis.

BACKGROUND: Bipolar disorder (BD) is commonly comorbid with other psychiatric conditions, such as obsessive-compulsive disorder (OCD). Despite increasing interest in this comorbidity, quantitative data on its clinical characteristics remain limited. This systematic review and meta-analysis aimed to evaluate the clinical impact of OCD comorbidity in BD by comparing individuals with BD and OCD (BD-OCD) to those with BD without OCD. METHODS: We systematically searched the PubMed/MEDLINE, Scopus, PsycINFO, and Web of Science databases up to April 15, 2024. Meta-analyses were conducted to compare BD-OCD and BD without OCD groups across multiple clinical domains. RESULTS: From 11,959 initial records screened, 26 studies were included in the qualitative synthesis, with 22 eligible for meta-analysis. Individuals with BD-OCD showed higher odds of experiencing chronic mood episodes (OR = 9.42; 95%CI = 2.23, 39.9), rapid cycling (OR = 1.92; 95%CI = 1.04, 3.53), comorbid eating disorders (OR = 3.37; 95%CI = 1.99, 5.7), panic disorder (OR = 3.3; 95%CI = 2.11, 5.2), substance use disorders (OR = 1.39; 95%CI = 1.02, 1.89), and lifetime suicide attempts (OR = 1.85; 95%CI = 1.21, 2.84). Additionally, they presented earlier onset of BD (SMD = -0.27; 95%CI = -0.52, -0.01) and reduced functioning (SMD = -0.42; 95%CI = -0.59, -0.24). Most data were derived from adult populations, limiting the evidence available for children and adolescents. CONCLUSIONS: BD-OCD presents a more severe and complex clinical profile, requiring specialized assessment and integrated treatment approaches. Identifying these features may support earlier recognition and inform personalized interventions for this population.

Humans

Self-Report Health Screening Tools in Female Athletes: A Systematic Review of Domain Coverage, Validation, and Use Across Participation Levels.

BACKGROUND: Female athlete health encompasses multiple interconnected domains; however, the self-report screening tools used to assess these domains have not been comprehensively synthesised. OBJECTIVE: To systematically identify self-report health screening tools used to assess female athlete health, map domain coverage, determine validation reporting, and describe application across participation levels. METHODS: This systematic review was pre-registered with PROSPERO ( CRD420251056910 ) and conducted in accordance with PRISMA guidelines. Four databases (PubMed, MEDLINE, SPORTDiscus and Web of Science) were searched from inception to January 2026 using female health and screening-related terms. Methodological quality was appraised using Joanna Briggs Institute and National Institutes of Health tools, and findings were synthesised descriptively. Eligible, peer-reviewed studies reported the use, development or validation of self-report health screening tools assessing one or more domains relevant to female health applied in female athlete populations, spanning recreational through elite participation levels. All sports and activities were included. The search was restricted to English language with no date limits. RESULTS: In total, 360 studies (1990-2026) representing 134,506 female participants spanning recreational to elite sport and 273 screening tools were included. Mental health (n = 77, 34.1%), disordered eating (n = 33, 14.6%) and body image (n = 30, 13.3%) predominated. Domains related to female health, including menstrual health, pelvic floor health, pregnancy/postpartum and breast health were comparatively underrepresented. Most studies reported tools were used for risk identification (n = 323, 80.3%). Validation reporting was inconsistent, with half (n = 180, 50%) reporting use of at least one validated tool. Tool use was concentrated in professional and elite sport, with limited inclusion of recreational, masters and disability athlete cohorts. Health literacy constructs were explicitly assessed in 12.5% of studies (n = 45). CONCLUSIONS: Health screening in female athlete populations remains fragmented and uneven in domain coverage, with inconsistent validation reporting. Development of integrated, multi-domain and contextually inclusive screening frameworks is warranted.

Journal Article

Genetics of Anorexia Nervosa: Translation to Future Personalized Therapies.

Anorexia nervosa (AN) is a debilitating and often refractory eating disorder that is unique among psychiatric disorders insofar as nutrition is key to recovery. Treatment options and efficacy are limited with no approved medications for AN. Genetic studies are clarifying the etiology of AN, with the goal of eventually informing the development of innovative personalized pharmacologic, nutritional, microbial, and behavioral interventions. We present the current state of genome-wide and epigenome-wide association studies, gut microbiome research, and functional genomics investigations and discuss translating this knowledge into clinical practice.

Humans

Body image disturbance in anorexia nervosa during the acute and recuperative phase.

Perception of body size, subjective experience of body image distortions and differentiation of body concept in the human figure drawing were assessed in adolescent anorexia nervosa patients and controls shortly after hospital admission, and again 6 months later during the recuperative phase. Size estimation was not found to be a distinguishing variable, as both groups exhibited overestimation tendencies of comparable magnitude at both time periods. By contrast, experiences denoting estrangement from the body, insensitivity to body sensations, and weakness of body boundaries were more prevalent in anorexics, and persisted at high levels after frank symptoms of weight and eating disorder had subsided. Anorexics were also shown to depict the human figure with less differentiation relative to controls. Within the anorexic sample the presence of vomiting was linked to greater subjective experience of body image distortion, and such phenomena appear to be a more enduring feature in this subgroup. Overall, the results were viewed as lending support to the argument that defects in body image formation render the anorexic vulnerable to their manifest pathology, which is itself activated by maturational conflicts unique to adolescence.

Acute Disease

The dietary chaos syndrome: a useful new term?

Following typical primary anorexia nervosa some subjects enter a state characterized by disordered eating behaviour and emotional instability whilst remaining at or above a normal weight. Other subjects may reach a similar position without having been in a state of anorexia nervosa. Surprisingly the state seems to lack a satisfactory name. The term 'Dietary chaos syndrome' is proposed.

Adult

Psychological aspects of anorexia: areas for study.

Anorexia and weight loss are frequently the first manifestations of cancer. Although psychological reasons are frequently included as a partial explanation for loss of appetite and weight in the cancer patient, there have been no systematic studies which establish the nature of this relationship. It is proposed that anorexia and cachexia are at times somatic consequences of the cancer patient's beliefs and attitudes about their disease and its treatments. The inability to overcome a sense of hopelessness leads to an adaptive biological reaction called conservation-withdrawal. The effects of the reaction of disengagement and inactivity in relation to the external world which includes external nutriment may be constructive or destructive depending on when it is experienced and the length of time the reaction continues. How this reaction is initiated and mediated biologically and how it may be related to and can be reversed by a shift in motivation are questions of great importance.

Adjustment Disorders

[Portal hypertension without liver cirrhosis in chronic vitamin A intoxication].

The ysmptoms and findings in a patient after prolonged intake of excessive amounts of vitamin A for treatment of psoriasis are presentd. All the characteristic signs of chronic intoxication were reversible after withdrawal of the medication. Initially portal hypertension could be demonstrated, although histologically there was no cirrhosis of the liver. During the period of observation the disturbed liver function returned to normal and the signs of portal hypertension disappeared completely. Reversibility of portal hypertension is a unusual observation and is discussed in relation to similar situations in toxic liver disease.

Adult

Applied behavior analysis in the treatment of childhood feeding problems.

This paper discusses behavioral mismanagement as a cause of feeding problems in children and reports the case of a six-year-old handicapped boy who was subsisting almost entirely on pureed foods at the time of his referral. Treatment with applied behavior analysis resulted in his acceptance of food normal for his age, and at follow-up 12 months after treatment the variety of foods eaten and the nutrient intake were virtually normal for his age. The authors discuss the frequent occurrence of feeding problems in children and their possible causes. They propose that such problems constitute a clinical entity and suggest a preliminary classification system for them.

Behavior Therapy

[Disorders of the sleep-wakefulness function].

Disorders of sleep belong to the most frequent troubles. A lot of different factors may contribute to the pathogenesis of sleep disorders. Modern sleep research has opened important views into the structure of sleep and the pathophysiology of sleep disorders. In a narrower sense sleep disorders mean a deficiency of sleep (hyposomnia). This may concern the induction of sleep or its maintenance. Sleep disorders without underlying disease may be differentiated from those caused by different diseases. Hypersomnia may occur as a symptom of various cerebral dysfunctions and processes, as an episodic disorder (Kleine-Levin-syndrome) or as a part of the Pickwick-syndrome. In narcolepsy characteristic symptoms are sleep attacks, kataplexy (emotionally induced loss of muscle tone) and transient pareses during awakening. Disturbances linked with sleep are snoring, somnambulism, speaking and grinding of the teeth during sleep and nocturnal enuresis. They may constitute idiopathic disorders. On the other hand, there may be similarities between epileptic phenomena and these disorders. Some epilepsies demonstrate relations to the rhythm of sleep and wakefulness which become evident in the manifestation of seizures and epileptiform EEG activity at certain stages of vigilance.

Anxiety

The Kleine-Levine syndrome--a variant?

A case of Kleine-Levin syndrome in an older man is described, with a review of the literature. An important point is emphasized in our case in which the patient reacted unfavorably to Ritalin, becoming sexually aroused, although his hypersomnia improved. A possibly different mechanism in hypersomnia and hypersexuality is speculated.

Adult