Arquivos de neuro-psiquiatria最新文献

Background:  Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene.

Objective:  To describe the key demographic, clinical and genetic characteristics, as well as natural history data of patients with SMA-5q.

Methods:  Up to January 2022, 706 patients with confirmed genetic diagnosis of SMA-5q, or their parents, completed a self-reported questionnaire on natural history, genetic characteristics, drug treatments, and multidisciplinary care.

Results:  Most patients had type 1 SMA-5q (42%); with 33% having type 2, and 23% type 3. There were 667 patients (94.4%) with a homozygous SMN1-exon 7 deletion. Of the total, 131 (18.6%) patients had a previous family history of the disease, and the familial recurrence rate was higher in type 3 (25.6%). Type 1 patients had a mean age of 3 months at the onset of symptoms and a delay of more than 3 months until genetic diagnosis. The median survival of patients with type 1 without invasive ventilation was 27 months. Before 2018, the median age of use of invasive ventilation was 16 months and, after, most patients (71%) were not submitted to invasive ventilation. About 50% of patients with type 3 lost their walking ability by 37 years of age. Further, 384 (54.4%) patients had access to disease-modifying therapy, and 62.3% of type 1 patients were in treatment, compared with only 47.2% of type 2 and 31.9% of type 3 patients.

Conclusion:  There is still a substantial diagnostic delay, especially in those patients with types 2 and 3 SMA-5q. However, the present study demonstrated prolonged survival, especially in type 1 patients.

Since the description of autoimmune encephalitis (AE) associated with N-methyl-D-aspartate receptor antibodies (anti-NMDARE) in 2007, more than 12 other clinical syndromes and antibodies have been reported. In this article, we review recent advances in pathophysiology, genetics, diagnosis pitfalls, and clinical phenotypes of AE associated with cell surface antibodies and anti-GAD associated neurological syndromes. Genetic studies reported human leukocyte antigen (HLA) associations for anti-LGI1, anti-Caspr2, anti-IgLON5, and anti-GAD. Follow-up studies characterized cognitive dysfunction, psychiatric symptoms, sleep disorders, and adaptative behavior dysfunction, mainly for anti-NMDARE. Late-onset anti-NMDARE and anti- GABA-B receptor (GABA-BR) encephalitis patients were described to have worse prognoses and different tumor associations. Additionally, the clinical spectrum of anti-LGI1, anti-AMPAR, anti-CASPR2, and anti-IgLON5 was expanded, comprising new differential diagnoses. The diagnostic criteria for AE were adapted to the pediatric population, and a diagnostic algorithm was proposed, considering potential mimics and misdiagnosis. We also review the limitations of commercial assays for AE and treatment recommendations, as well as clinical scales for short and long-term assessment of AE patients, along with cognitive evaluation.

Background:  Alzheimer's disease (AD) is the most common cause of dementia and affects a large portion of the elderly population worldwide.

Objective:  To analyze the relationship between lamina cribrosa thickness (LCT) and hippocampal volume in patients with AD and mild cognitive impairment (MCI).

Methods:  The sample in the present study consisted of 20 recently diagnosed MCI patients, 20 recently diagnosed AD patients, and 20 matched healthy volunteers. Every patient underwent magnetic resonance imaging (MRI) scans. The VolBrain software (open-access platform for MRI brain analysis) was used to calculate the hippocampal volume. Optical coherence tomography was performed to measure the LCT. Analysis of variance and Pearson chi-squared tests were employed to assess the results.

Results:  The lowest total hippocampal volume (p < 0.05) was in the AD group, which was 6.14 ± 0.66 mm³, while in the control group, it was 7.7 ± 9.65 mm³, and 6.69 ± 0.46 mm³ in the MCI group. In comparison to the rest of the groups, in the AD group, the LCT was the thinnest (202.17 ± 16.35 µm). As per the results of the study population as a whole, low hippocampal volume causes low LCT, which shows an important relationship (r: 0.41; p < 0.05).

Conclusion:  The current findings present evidence of the relationship between hippocampal volume and LCT in patients with AD and MCI.

Background:  To improve the diagnostic accuracy of the state of consciousness of patients with severe brain injury, Giacino et al. introduced the Coma Recovery Scale (CRS) in 1991, which underwent revision in 2004, resulting in the revised CRS scale (CRS-R).

Objective:  To determine the concurrent validity, as well as inter- and intrarater agreement of the CRS-R's adaptation to Brazilian Portuguese.

Methods:  This study involved a sample of 30 patients with severe brain injury. Concurrent evaluations were also performed with the Glasgow Coma Scale (GCS) and the Full Outline of UnResponsiveness (FOUR) scale. A total of seven rehabilitation experts were recruited to assess the inter- and intrarater reliability agreement.

Results:  Interrater reliability was moderate to high for auditory, visual, motor, verbal, communication, and arousal subscales (Cohen weighted kappa = 0.765 to 0.892; p < 0.001). Significant inter and intrarater intraclass correlation coefficients were observed for the total CRS-R scores, all of which were statistically significant (p < 0.001). Also, total CRS-R scores exhibited a high correlation with the total GCS and FOUR scores, indicating acceptable concurrent validity (p < 0.001).

Conclusion:  The Brazilian Portuguese version of CRS-R can be reliably administered by trained examiners. This study demonstrated substantial to almost perfect interrater agreement for the total score and subscales, as well as high concurrent validity between the Brazilian Portuguese version of CRS-R and the other two standardized behavioral scales.

Background:  Several studies have sought to investigate the trajectory of scholarly publications on dementia. Yet, there has been limited attention to contributions from Latin America.

Objective:  To provide a comprehensive overview of the literature output on dementia in Brazil.

Methods:  We conducted a Scopus-based literature search (2010-2021) for publications by authors affiliated with Brazil.

Results:  Out of 5,534 reports, 2,528 met the inclusion criteria. The annual growth rate of publications on dementia (9.9%, SD = 15.5) closely paralleled that of general health-related literature (6.7%, SD = 4.9). Most publications were categorized into the areas of diagnosis (33.4%) and disease mechanisms, origins, and models (32.7%). Epidemiological studies (4%), clinical trials (1%), and economic analyses (0.3%) are scarce. Based on the first affiliation of Brazil-affiliated authors, 89.3% of dementia output stemmed from Southeast (68.4%) and South (20.9%) of Brazil. Nonetheless, the state of São Paulo alone accounted for 41.1%, contributing to 60.1% of the Southeast. First and second authorships were predominantly held by female researchers, whereas male researchers occupied most of the second-to-last and last authorships. Overall, 1,812 (71.7%) were published in 346 foreign journals and 716 (28.3%) in 43 Brazilian journals. Notably, nearly half of the reports published in Brazil are concentrated in two journals: Dementia e Neuropsychologia (31.4%) and Arquivos de Neuro-Psiquiatria (15.2%).

Conclusion:  There is a pressing need for more studies in dementia epidemiology and economic cost, in addition to more research across all Brazilian regions.

This paper provides a historical overview of Professor Fulgence Raymond, Charcot's eldest pupil, who was chosen as his successor. It explores Raymond's origins as a veterinary surgeon, his evolution as a neurologist under Charcot's mentorship, and his tenure as the professor's successor at the La Salpêtrière Hospital in Paris, France, from 1894 to 1910.

Background:  Peripheral vestibular hypofunction (PVH) is characterized by balance and gait disorders and vestibulo-autonomic findings. The vestibular system and proprioceptive system work together to regulate sensorimotor functions. Vestibular exercises are effective in PVH, but their superiority over each other is still unclear.

Objective:  This study aims to examine the effect of proprioceptive vestibular exercises on patients with PVH.

Methods:  30 individuals with unilateral PVH were assigned to 3 groups. Group 1 received proprioceptive vestibular rehabilitation, group 2 received standard vestibular rehabilitation. Both groups were given standard vestibular exercises as home exercises. No exercise was applied to the group 3. Patients were evaluated in terms of balance, functional mobility, posture, sensory profile, and quality of life.

Results:  Although there was a significant intra-group difference in balance, functional mobility, and quality of life results in all groups (p < 0.05), the difference between groups was generally in favor of group 1 (p < 0.05). There was a significant difference between the groups in the posture analysis results (p < 0.05), while there was a significant difference in the 1st group (p < 0.05). There was a significant difference between the groups in the results of sensory sensitivity, sensory avoidance, and low recording (p < 0.05). There was no significant difference between the groups in sensory-seeking results (p > 0.05). There was a significant difference in quality of life between and within groups (p < 0.05).

Conclusion:  Proprioceptive vestibular rehabilitation is an effective method in PVH. We think that our study will guide clinicians and contribute to the literature.

Trial registration:  NCT04687371.

Background:  The pathophysiology of cluster headaches (CHs) involves the trigeminovascular system, the parasympathetic nervous system, and the hypothalamus. Because of the affected hypothalamus, there may be limbic system involvement in CH.

Objective:  To investigate the relationship between depression, anxiety, and alexithymia in CH, to demonstrate that the limbic system is affected.

Methods:  A total of 18 patients with CHs who were outside of cluster period and 18 healthy controls were included. Participants were administered the Beck depression inventory (BDI), Beck anxiety inventory (BAI), and Toronto alexithymia scale-20 (TAS-20).

Results:  Patients with CHs had significantly higher rates of alexithymia (p = 0.003) and depression (p = 0.014) than controls. There was no significant difference in anxiety levels (p = 0.297) between groups.

Conclusion:  It was shown that, in addition to previously identified psychiatric disorders, alexithymia can accompany CHs in patients.