Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease.

Niemann-Pick type C (NPC) is a rare autosomal recessive disorder characterized by storage of unesterified glycolipids and cholesterol in lysosome. NPC's clinical presentation is highly heterogeneous, depending on the time of onset. It encompasses visceral, neurological, and/or psychiatric manifestations. As the motor findings are so important and devastating in this disease, there is a lack of description about non-motor symptoms, even though they play important role in quality of life of NPC patients. We described the most common non-motor findings in NPC like cognitive dysfunction, neuroimaging, psychiatric symptoms, sleep disorders, seizures, hearing problems, respiratory and other systemic features, bladder and fecal dysfunction, hypersalivation, and malnutrition. In this review, we highlighted the importance of these undervalued symptoms and their management. Specific measures of all aforementioned clinical features may work as relevant biomarkers in order to evaluate successful therapies in future clinical trials.

Physical activity as prognostic factor for bipolar disorder: An 18-month prospective study.

INTRODUCTION: Exercise is an adjuvant therapy indicated for various psychiatric disorders. However, prospective studies in patients with bipolar disorder (BD) are scarce and with uncertain conclusions. This study aims to evaluate physical activity as a prognostic factor for BD, analyzing relationship with levels of anxiety, functionality, sleep, mood episodes and hospitalizations. METHODS: Three psychiatrists interviewed 80 BD outpatients in euthymia, referred from four different institutions in Brazil. In this moment, they evaluated the intensity of physical activities using the International Physical Activity Questionnaire (IPAQ) - short form. They reevaluated patients and reviewed medical records monthly for 18 months to identify mood episodes and psychiatric hospitalizations. RESULTS: Thirty-eight patients (47.5%) were physically inactive (or sedentary) and 42 (52.5%) active. Physically active patients had lower Body Mass Index (p = 0.006), waist circumference (p = 0.002), lower levels of anxiety (p = 0.032) and less insomnia (p = 0.001). Sedentary individuals revealed poorer global functioning (p < 0.001) and in all domains: autonomy (p < 0.001), occupational functioning (p = 0.008), cognitive functioning (p = 0.013), capacity of managing the finances (p = 0.012), interpersonal relationships (p = 0.011) and leisure time (p = 0.001). Less activity was associated with more mood episodes (p = 0.042) and psychiatric hospitalizations (p = 0.043) over 18 months. CONCLUSION: This study suggested physical activity as a good prognostic factor for BD during euthymia. This reinforces the need to encourage this practice in clinical settings. Future prospective surveys with longer duration using objective instruments are proposed.

Clinical significance of neutrophil-lymphocyte and platelet-lymphocyte ratios in bipolar patients: An 18-month prospective study.

Neutrophil-lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR) have recently been investigated as inexpensive and reproducible markers of systemic inflammation in many diseases. However, few studies evaluate clinical and prognostic value of NLR and PLR in psychiatric patients. The objective of this study is to investigate the clinical repercussions of NLR and PLR in patients with bipolar disorder (BD). An 18-month prospective study followed up eighty euthymic BD outpatients. Baseline data included an interviewer-administered questionnaire, behavioral scales and a blood count to calculate NLR and PLR. The occurrence of mood episodes and hospitalizations was assessed monthly for 18 months. Higher NLR and PRL were associated with more anxious symptoms and poorer functioning. BD patients with Night Eating Syndrome (NES) had higher PLR and tended to higher NLR. No association with other sleep parameters was evidenced. Higher NLR and PRL were also associated with more episodes and hospitalizations after 18 months. However, only higher baseline NLR was related to more (hypo)mania episodes. NLR and PLR are important prognostic factor for BD. This study suggested the importance of a simple blood count, an inexpensive and reproducible exam, in evaluating the course of the BD. Further studies must be performed to confirm these results.

Night eating in bipolar disorder.

OBJECTIVE: Night eating syndrome (NES) involves reduced feeding during the day and evening hyperphagia sometimes accompanied by frequent nocturnal awakenings with conscious episodes of compulsive ingestion of food. Previously, NES has not been evaluated in bipolar disorder (BD). The objective of this study was to identify NES in euthymic BD patients. PATIENTS/METHODS: Eighty BD patients and 40 controls were examined using the Night Eating Questionnaire, Hamilton Rating Scale for Depression and Anxiety, Young Mania Rating Scale, Functioning Assessment Short-Test and International Physical Activity Questionnaire. Sleep quality (Pittsburgh Sleep Quality Index), daytime sleepiness (Epworth Sleepiness Scale), severity of insomnia (Insomnia Severity Index) and morning-evening preference (Morningness-Eveningness Questionnaire) were also evaluated. RESULTS: BD patients presented NES in 8.8% while the controls showed no NES. Patients with and without NES were not different with respect to gender, disease duration, smoking, heavy drinking, body mass index, waist-to-hip ratio and neck circumference. BD patients with NES scored higher for functioning as well as for the following specific components: occupational functioning, financial issues, interpersonal relationships and leisure time. They also had more anxiety, higher insomnia severity and worse sleep quality. Furthermore, BD patients with NES were more evening type. CONCLUSION: NES occurs more frequently in BD patients than in controls. BD patients with NES present more disease-related manifestations such as more anxiety, poorer functioning and worse sleep parameters. Patients with NES were more evening type. We speculate whether changing circadian preference in these patients can reduce NES.

Sleep and circadian alterations in people at risk for bipolar disorder: A systematic review.

BACKGROUND: Sleep and circadian abnormalities have been mostly demonstrated in bipolar patients. However, it is not clear whether these alterations are present in population at high risk for bipolar disorder (BD), indicating a possible risk factor for this condition. OBJECTIVE: This systematic review aims to define current evidence about sleep and rhythm alterations in people at risk for BD and to evaluate sleep and circadian disorders as risk factor for BD. METHODS: The systematic review included all articles about the topic until February 2016. Two researchers performed an electronic search of PubMed and Cochrane Library. Keywords used were 'sleep' or 'rhythm' or 'circadian' AND 'bipolar disorder' or 'mania' or 'bipolar depression' AND 'high-risk' or 'risk'. RESULTS: Thirty articles were analyzed (7451 participants at risk for BD). Sleep disturbances are frequent in studies using both subjective measures and actigraphy. High-risk individuals reported irregularity of sleep/wake times, poor sleep and circadian rhythm disruption. Poor sleep quality, nighttime awakenings, and inadequate sleep are possible predictive factors for BD. A unique study suggested that irregular rhythms increase risk of conversion. People at risk for BD showed high cortisol levels in different times of day. Studies about anatomopathology, melatonin levels, inflammatory cytokines and oxidative stress were not identified. The most important limitations were differences in sleep and rhythm measures, heterogeneity of study designs, and lack of consistency in the definition of population at risk. CONCLUSION: Sleep and circadian disturbances are common in people at risk for BD. However, the pathophysiology of these alterations and the impact on BD onset are still unclear.

Exercise in bipolar patients: A systematic review.

BACKGROUND: Sedentary lifestyle is frequent in psychiatric disorders, however the directions of this association and benefits of physical activity are unclear. This is a systematic review about exercise in patients with bipolar disorder. METHODS: We performed a systematic literature search of studies published in English (1995 Jan to 2016 Jan) in PubMed, and Cochrane Library combining the medical terms 'physical activity' or 'sedentary' or 'physical exercise' with 'bipolar disorder' or 'mania' or 'bipolar depression'. RESULTS: Thirty-one studies were selected and included 15,587 patients with bipolar disorder. Sedentary lifestyle varied from 40% to 64.9%. Physical activity was associated with less depressive symptoms, better quality of life and increased functioning. Some evidence indicates a relationship between vigorous exercises and mania. Three prospective cohorts were reported; and no prospective randomized controlled trial was identified. Three studies focused on biomarkers in bipolar patients; and one reported the relationship between exercise and sleep in this group. Two assessed physical exercise in adolescents. LIMITATIONS: (1) Differences between studies preventing a unified analysis; (2) most studies were cross-sectional; (3) motivation for exercising is a selection bias in most studies; (4) no intervention study assessing only physical exercise; (5) lack of studies comparing exercise across mood states. CONCLUSION: Generally, exercise was associated with improved health measures including depressive symptoms, functioning and quality of life. Evidence was insufficient to establish a cause-effect relationship between mood and physical exercise. Future research including randomized trials is needed to clarify the role of physical activity in bipolar patients.

Health of Psychiatry Residents: Nutritional Status, Physical Activity, and Mental Health.

OBJECTIVE: This study aims to analyze mental health, nutritional status, and physical activity in psychiatry residents. METHODS: Sixty-two residents were invited and 59 participated (95.2% response). Depressive, anxious, and social phobic symptoms; alcohol use; and nicotine dependence were measured. Body mass index and lifestyle were also evaluated. RESULTS: Almost half of psychiatry residents were overweight or obese, and 61% reported a sedentary lifestyle. Furthermore, 33.9% of residents had high scores for anxiety; 30.5% for social phobia; and 19% for depression. In addition, 81.4% reported alcohol use, and 22% had harmful alcohol use. High scores for anxiety were associated with lower attention and worse relationship with preceptors, and high scores of depressive symptoms were related to a worse relationship with patients and preceptors. Anxiety was associated with depressive symptoms (p < 0.001) and social phobia (p = 0.006). CONCLUSION: The findings of this study highlight high rates of overweight/obesity, physical inactivity, and depressive and anxiety symptoms in psychiatric residents.

[The clinical and psychosocial profile of inmates in psychiatric hospitals in the State of Ceará, Brazil]. / Perfil clínico e psicossocial dos moradores em hospitais psiquiátricos no estado do Ceará, Brasil.

One of the most vexing problems in the context of psychiatric reform are the inmates of psychiatric hospitals institutionalized for one year or more. The long periods of hospitalization indicate that these inmates have been abandoned, which can aggravate their psychiatric disorders. This article seeks to trace a socio-demographic and clinical profile of the inmates of psychiatric hospitals in the State of Ceará, Brazil. It is a cross-sectional study, based on reviews of medical registers, interviews and application of two scales: the Katz Index and the PANSS. Most of the 39 participants were men, single and of an economically active age. Information on education (69.2%) and religion (66.7%) were not known and for 12.8%, their marital status was unknown. Nearly 75% received no visits from friends or relatives. Two thirds maintained total independence to perform ADLs (Activities of Daily Living). The majority were admitted for primary psychotic disorder (76.8%). These manifested a marked negative syndrome in 96.7% of cases. The study highlights the situation of abandonment and loss of citizenship experienced by chronically institutionalized patients. It is questionable to what extent hospitals are prepared to offer the assistance that this population needs.

Perfil clínico e psicossocial dos moradores em hospitais psiquiátricos no estado do Ceará, Brasil / The clinical and psychosocial profile of inmates in psychiatric hospitals in the State of Ceará, Brazil

Um dos mais preocupantes problemas no contexto da Reforma Psiquiátrica são os moradores dos hospitais psiquiátricos (pacientes institucionalizados por um ano ou mais). As longas internações evidenciam a situação de abandono e podem descompensar transtornos psiquiátricos. O objetivo deste artigo é traçar o perfil sociodemográfico e clínico da população dos moradores de hospitais psiquiátricos do Estado do Ceará. Trata- se de um estudo transversal, baseado em revisões de prontuários, entrevistas e aplicação de escalas (índice de Katz e PANSS). Dos 39 participantes, a maioria era homem, solteiro e em idade economicamente ativa. Da maioria não se dispõe dados sobre a escolaridade (69,2%) e a religião (66,7%); e 12,8% têm o estado civil ignorado. Cerca de ¾ não recebiam visitas de amigos ou familiares. Dois terços mantêm independência total para a realização de AVD (Atividades de Vida Diária). A maioria estava internada por transtorno psicótico primário (76,8%). Nesses pacientes, destacava-se a exuberância de sintomas negativos, configurando uma síndrome negativa em 96,7% dos casos. O estudo destaca a situação de abandono e perda de cidadania dos pacientes cronicamente institucionalizados. Questiona-se até que ponto os hospitais estão preparados para oferecer-lhes a devida assistência.

One of the most vexing problems in the context of psychiatric reform are the inmates of psychiatric hospitals institutionalized for one year or more. The long periods of hospitalization indicate that these inmates have been abandoned, which can aggravate their psychiatric disorders. This article seeks to trace a socio-demographic and clinical profile of the inmates of psychiatric hospitals in the State of Ceará, Brazil. It is a cross-sectional study, based on reviews of medical registers, interviews and application of two scales: the Katz Index and the PANSS. Most of the 39 participants were men, single and of an economically active age. Information on education (69.2%) and religion (66.7%) were not known and for 12.8%, their marital status was unknown. Nearly 75% received no visits from friends or relatives. Two thirds maintained total independence to perform ADLs (Activities of Daily Living). The majority were admitted for primary psychotic disorder (76.8%). These manifested a marked negative syndrome in 96.7% of cases. The study highlights the situation of abandonment and loss of citizenship experienced by chronically institutionalized patients. It is questionable to what extent hospitals are prepared to offer the assistance that this population needs.

Schizencephaly and psychosis: a rare association.

Schizencephaly is a rare malformation of the central nervous system defined as a gray matter-lined cleft filled with cerebrospinal fluid that extends from the pial surface to the ventricle. Few cases of association with psychosis were reported in the scientific literature. We present a case of a 46-year-old woman, admitted into a psychiatric hospital with crises of psychomotor agitation, disorganized and erotized behavior, persecutory and self-reference delusions, and auditory and visual hallucinations. She also reported seizures since her childhood. A head CT scan revealed a large subarachnoid space communication with the adjacent lateral ventricle in the topography of occipital, temporal, and parietal lobes to the right, suggestive of schizencephaly.