Gordon Holmes syndrome (GHS, MIM 212840) is an autosomal recessive disorder with a clinical manifestation of cerebellar ataxia, dementia and hypogonadotropic hypogonadism. To describe the clinical and genetic profile of patients with GHS reported worldwide with genotype-phenotype correlation. This is a review of reported cases of GHS based on the different genetic variant worldwide. We report 2 patients of GHS due to variant in the RNF216 gene. There was total 29 reported cases of GHS with RNF216 variants, 9 cases with PNPLA6 variants, and 5 with STUB1 variant. There was male predominance in the RNF216 and PNPLA6 variants. The median age at onset was lower and duration of illness was longer in STUB1 variants. Cerebellar ataxia and dysarthria were seen in all variants. Dementia, chorea and psychiatric disturbances were common in RNF216 variants. Seizures were seen only in STUB1 variants. Hypogonadotrophic hypogonadism were seen in all variants. Brain magnetic resonance imaging showed signal changes in the white matter apart from the cerebellar and cerebral atrophy in RNF216 variants. Missense, frameshift and non-sense variants were common in RNF216 and missense variants were common in PNPLA6 and STUB1. The phenotypic and genotypic presentation of GHS is heterogeneous with variants in the RNF216 representing majority of GHS cases.
One reliable sociodemographic predictor of sleep is marital status. Being lonely, separated, residing away from a spouse may have distinct consequences, particularly for middle-aged and older persons. The objective is to determine the association between sleep disorders and current marital status among Indian population aged 45 years and above, stratified into gender and age group. Longitudinal ageing study in India (LASI) is an ongoing cohort study to collect information on health aspects of ageing in India. Current study is conducted using 1st wave of LASI data set (April 2017 to December 2018). Sleep disorders including sleep disturbance was assessed using the Jenkin Sleep Scale (JSS-4). It covers four sleep related questions in last one month and participants were classified as presence or absence of sleep disorder. We have assessed the association of sleep disorder (outcome/ response variable) with current marital status (explanatory/ exposure variable) adjusted with covariate using multivariable logistic regression. P value < 0.05 was considered statistically significant. STATA version 17 was used for analysis. Sleep disorder was highest among participants in live-in relationship (15.88
Individuals are increasingly utilizing large language model (LLM)-based tools for mental health guidance and crisis support in place of human experts. While AI technology has great potential to improve health outcomes, insufficient empirical evidence exists to suggest that AI technology can be deployed as a clinical replacement; thus, there is an urgent need to assess and regulate such tools. Regulatory efforts have been made and multiple evaluation frameworks have been proposed, however,field-wide assessment metrics have yet to be formally integrated. In this paper, we introduce a comprehensive online platform that aggregates evaluation approaches and serves as a dynamic online resource to simplify LLM and LLM-based tool assessment: MindBench.ai. At its core, MindBench.ai is designed to provide easily accessible/interpretable information for diverse stakeholders (patients, clinicians, developers, regulators, etc.). To create MindBench.ai, we built off our work developing MINDapps.org to support informed decision-making around smartphone app use for mental health, and expanded the technical MINDapps.org framework to encompass novel large language model (LLM) functionalities through benchmarking approaches. The MindBench.ai platform is designed as a partnership with the National Alliance on Mental Illness (NAMI) to provide assessment tools that systematically evaluate LLMs and LLM-based tools with objective and transparent criteria from a healthcare standpoint, assessing both profile (i.e. technical features, privacy protections, and conversational style) and performance characteristics (i.e. clinical reasoning skills). With infrastructure designed to scale through community and expert contributions, along with adapting to technological advances, this platform establishes a critical foundation for the dynamic, empirical evaluation of LLM-based mental health tools-transforming assessment into a living, continuously evolving resource rather than a static snapshot.
Background:Normal Pressure hydrocephalus (NPH) is treated by ventriculoperitoneal shunting. The cerebrospinal fluid tap test (CSF-TT) is widely used to identify candidates for shunt surgery in idiopathic NPH (iNPH). This study aimed to compare the CSF tap test responses and 24-week functional outcomes between patients with probable iNPH who underwent surgery and those who did not. Methods:This Ambispective cohort study included 40 patients with probable iNPH, as defined by the 2019 Japanese guidelines, from 2019 to 2024. All patients underwent a large-volume CSF-TT, and they were offered surgery based on the clinico-radiologic profile. Results:Twenty-four patients underwent ventriculoperitoneal shunt surgery, and 16 did not for various reasons. No significant differences were found in the baseline or 24-hour post-CSF tap test parameters between the groups. However, at 24 weeks, 62.5% of the operated patients showed at least a 1-point improvement in mRS. In contrast, only 14.3% in the non-operated group did, indicating the beneficial role of VP shunting in NPH. Those who were operated had a 10 times higher odds (95% CI 1.6-105) of achieving at least one point improvement in mRS at 24 weeks. Interestingly, 46.7% of patients whose mRS did not improve after CSF-TT but who underwent surgery still benefited from shunting. Conclusion:Shunt surgery leads to a favorable short-term functional outcome in patients with probable iNPH. However, the CSF-TT alone lacks sufficient discriminatory power to guide surgical decisions in a cohort of patients with clinico-radiological probable iNPH. A negative tap test should not preclude surgery in patients with supportive clinical and imaging features.
BACKGROUND:Fixation stability (FS) is a basic substrate of visuomotor processing that can be assessed by tracking eye movements during a simple, easy-to-perform task of gazing at a visual stimulus. We studied FS with and without distractors for its potential as an endophenotype marker in antipsychotic-naïve/free schizophrenia (SCZ), SCZ first-degree relatives (FDRs), and healthy controls (HC). METHOD:Monocular high-frequency eye tracking data were recorded during a fixation stability task in 69 antipsychotic-naïve/free SCZ, 49 FDRs, and 76 HCs. The task required maintenance of gaze on a central circular target while ignoring an identical peripheral distractor, when present, at near/farther distances on either side. Fixation stability across the groups and the effect of laterality and distance of the distractor effect were analyzed using ANCOVA and RMANCOVA. RESULT:SCZ had significantly higher fixation frequency, saccade amplitude, and scanpath length compared to the other groups, even in trials without distractors (ηp2 = 0.05-0.07). Introducing distractors resulted in further worsening of performance in SCZ (ηp2 = 0.09-0.23). First-degree relatives showed impairment in median fixation duration (ηp2 = 0.13). Higher saccade amplitudes and scanpath lengths (both ηp2 = 0.09) were noted in trials with farther distractors across the groups. A significant interaction effect of the laterality * group was noted on scanpath length (ηp2 = 0.03). DISCUSSION:FS impairment was noted in antipsychotic naïve/free SCZ, and it worsened with the introduction of distractors. An inversed laterality effect (rightward-bias) of distractor was noted in SCZ and their FDRs, suggesting a possible association of attenuation/reversal of visual functional asymmetry with SCZ vulnerability. Future studies should evaluate FS as illness markers across different clinical stages.
