Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant.

BACKGROUND AND PURPOSE: Glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1-DS) is a metabolic disorder due to reduced expression of GLUT1, a glucose transporter of the central nervous system. GLUT1-DS is caused by heterozygous SLC2A1 variants that mostly arise de novo. Here, we report a large family with heterogeneous phenotypes related to a novel SLC2A1 variant. METHODS: We present clinical and genetic features of a five-generation family with GLUT1-DS. RESULTS: The 14 (nine living) affected members had heterogeneous phenotypes, including seizures (11/14), behavioral disturbances (5/14), mild intellectual disability (3/14), and/or gait disabilities (2/14). Brain magnetic resonance imaging revealed hippocampal sclerosis in the 8-year-old proband, who also had drug-responsive absences associated with attention-deficit/hyperactivity disorder. His 52-year-old father, who had focal epilepsy since childhood, developed paraparesis related to a reversible myelitis associated with hypoglycorrhachia. Molecular study detected a novel heterozygous missense variant (c.446C>T) in exon 4 of SLC2A1 (NM: 006516.2) that cosegregated with the illness. This variant causes an amino acid replacement (p.Pro149Leu) at the fourth transmembrane segment of GLUT1, an important domain located at its catalytic core. CONCLUSIONS: Our study illustrates the extremely heterogenous phenotypes in familial GLUT1-DS, ranging from milder classic phenotypes to more subtle neurological disorder including paraparesis. This novel SLC2A1 variant (c.446C>T) provides new insight into the pathophysiology of GLUT1-DS.

Functional seizures and binge eating disorder: A cross-sectional study.

OBJECTIVE: Functional seizures (FS) are brief, involuntary changes in behaviour or consciousness, distinct from epileptic seizures, potentially associated with psychological dissociation. Binge eating disorder (BED) was linked to psychological and somatic dissociation also. However, any connection between FS and BED is insufficiently explored. We aimed to assess BED prevalence in individuals with FS, anxiety/depression (AD), and healthy subjects (HS), to investigate dissociation's link to binge eating, and to explore psychological characteristics of FS individuals. METHOD: Participants underwent evaluations based on ILAE guidelines and DSM-5 criteria, including questionnaires assessing binge eating, dissociation, anxiety, depression and personality traits. Inclusion criteria were age > 18 years, no history of substance abuse, no history of epilepsy, and no use of medications inducing eating disorders. RESULTS: We found significantly more frequent and severe binge-eating symptoms in individuals with FS and AD compared to HS. Depression and dissociation correlated with binge-eating symptoms in both AD and FS groups. The PID-5 facet 'Perseveration' predicted binge-eating attitudes only in FS individuals; they reported more childhood emotional neglect and increased disinhibition compared do AD people. DISCUSSION: This study underscores the commonality of binge-eating symptoms in FS individuals, emphasizing its association with dissociation symptoms. This finding support the hypothesis of a link between dissociation and eating disorders. Unique clinical characteristics in individuals with FS were identified, as a compulsive dimension related to binge-eating symptoms, providing a comprehensive understanding of their psychological profile and guiding targeted therapeutic interventions.

The impact of one-year COVID-19 containment measures in patients with mesial temporal lobe epilepsy: A longitudinal survey-based study.

BACKGROUND: We assessed levels of depression, anxiety, stress, anhedonia, somatization, psychological distress, sleep, and life quality in patients with mesial temporal lobe epilepsy (MTLE) after one year of containment measures started in Italy to stem the COVID-19 pandemic. METHODS: We consecutively enrolled 51 patients with MTLE, administering an online survey that compared the year before and after the COVID-19 propagation. We analyzed clinical data (e.g., seizure frequency, life quality) and neuropsychological assessment through Somatic Symptom Scale-8 (SSS-8), Beck Depression Inventory (BDI-2), State-Trait Anxiety Inventory (STAI-Y), Depression, Anxiety and Stress Scale (DASS-21), Pittsburgh Sleep Quality Index (PSQI), Snaith-Hamilton Pleasure Scale (SHAPS), Impact of Event Scale-Revised (IES-R). The BDI-2 and STAI-Y scores were compared to those acquired in the same patients before the COVID-19 outbreak. RESULTS: Comparing our population with MTLE before and after COVID-19 outbreak, we found a significant worsening in life quality (p = 0.03), SSS-8 (p = 0.001), BDI-2 (p = 0.032), and STAI-Y scores (p < 0.001). After one year of pandemic, 88.2% of patients obtained pathological scores at PSQI, 19.6% at SHAPS, 29.4% at IES-R. Reduction of life quality correlated with anxiety, depression, stress, and somatization. Higher levels of anhedonia correlated with stress, depression, and anxiety. Somatization correlated with depression, anxiety, and sleep quality. Distress levels correlated with anxiety, somatization, and depression. CONCLUSIONS: We demonstrated a significant worsening of depression, anxiety, life quality, and somatization in patients with MTLE after one year of COVID-19 beginning. Concomitantly, results suggest that the pandemic had a negative impact on sleep quality, psychological distress, and anhedonia, but not on epilepsy itself.

Prognostic role of pre-treatment magnetic resonance imaging (MRI)-based radiomic analysis in effectively cured head and neck squamous cell carcinoma (HNSCC) patients.

OBJECTIVES: To identify and validate baseline magnetic resonance imaging (b-MRI) radiomic features (RFs) as predictors of disease outcomes in effectively cured head and neck squamous cell carcinoma (HNSCC) patients. MATERIALS AND METHODS: Training set (TS) and validation set (VS) were retrieved from preexisting datasets (HETeCo and BD2Decide trials, respectively). Only patients with both pre- and post-contrast enhancement T1 and T2-weighted b-MRI and at least 2 years of follow-up (FUP) were selected. The combination of the best extracted RFs was used to classify low risk (LR) vs. high risk (HR) of disease recurrence. Sensitivity, specificity, and area under the curve (AUC) of the radiomic model were computed on both TS and VS. Overall survival (OS) and 5-year disease-free survival (DFS) Kaplan-Meier (KM) curves were compared for LR vs. HR. The radiomic-based risk class was used in a multivariate Cox model, including well-established clinical prognostic factors (TNM, sub-site, human papillomavirus [HPV]). RESULTS: In total, 57 patients of TS and 137 of VS were included. Three RFs were selected for the signature. Sensitivity of recurrence risk classifier was 0.82 and 0.77, specificity 0.78 and 0.81, AUC 0.83 and 0.78 for TS and VS, respectively. VS KM curves for LR vs. HR groups significantly differed both for 5-year DFS (p<.0001) and OS (p=.0004). A combined model of RFs plus TNM improved prognostic performance as compared to TNM alone, both for VS 5-year DFS (C-index: 0.76 vs. 0.60) and OS (C-index: 0.74 vs. 0.64). CONCLUSIONS: Radiomics of b-MRI can help to predict recurrence and survival outcomes in HNSCC.

Orbito-frontal thinning together with a somatoform dissociation might be the fingerprint of PNES.

OBJECTIVE: To investigate neuroanatomical changes in patients with psychogenic nonepileptic seizures (PNES) compared to major depressive disorder (MDD) and healthy controls. METHODS: Forty-two drug-naïve PNES subjects and 25 patients with MDD, matched for demographic characteristics and level of depression (as measured by Beck Depression Inventory-II, BDI-II), were consecutively recruited. Patients performed an extensive neuropsychiatric assessment including: Hamilton Anxiety Rating Scale, Traumatic Experience Checklist, Dissociative Experiences Scale, Toronto Alexithymia Scale and Somatoform Dissociation Questionnaire (SDQ-20). All patients, together with 78 healthy matched controls, underwent 3T brain MRI followed by surface-based morphometry. RESULTS: Cortical thickness analysis revealed significant cortical thinning in bilateral medial orbitofrontal cortex (OFC) and left rostral anterior cingulate cortex (ACC) in patients with MDD compared to subjects with PNES and controls. Interestingly, increased thickness of the right pars triangularis was found in PNES subjects compared to controls. PNES showed higher scores in SDQ-20 (p < 0.001) compared to MDD, which was corroborated by neuroimaging data, where somatoform dissociation scores correlated with morphological changes in the left medial OFC. CONCLUSION: Our results show selective cortical thinning over the medial OFC in patients with PNES compared to wider regions of thinning in patients with MDD. Somatoform dissociation was the only psychopathological assessment significantly different in PNES and MDD.

The impact of sexual abuse on psychopathology of patients with psychogenic nonepileptic seizures.

OBJECTIVES: In the present study, we evaluated if the presence of sexual abuse in the clinical history of patients with psychogenic non-epileptic seizures (PNES) is associated with a different psychopathological profile. MATERIALS AND METHODS: In a consecutive population of 63 PNES patients, we compared two demographically and clinically matched groups of patients with (no. 15) and without (no. 48) a history of sexual abuse using a comprehensive psychopathological assessment (Beck Depression Inventory, Hamilton Anxiety Rating Scale, Dissociative Experience Scale, Somatoform Dissociation Questionnaire, and Toronto Alexithymia Scale). RESULTS: We found that the group of patients reporting sexual abuse is characterized by higher scores on Dissociative Experience Scale (p = 0.003) and Beck Depression Inventory (p = 0.001) with respect to the other group. No significant statistical differences in Hamilton Anxiety Rating Scale (p = 0.103), Toronto Alexithymia Scale (p = 0.137), and Somatoform Dissociation Questionnaire (p = 0.486) were captured. Moreover, we found that the negative effect on dissociate symptoms was also hampered by the increasing of seizure frequency. CONCLUSIONS: This study reinforces the importance of traumatic screening in the clinical spectrum of PNES in order to implement and improve specific therapeutic strategies.

Perampanel as first add-on choice on the treatment of mesial temporal lobe epilepsy: an observational real-life study.

PURPOSE: To evaluate the efficacy of perampanel (PER) in patients with a diagnosis of mesial temporal lobe epilepsy (MTLE) taking PER as first add-on option due to inefficacy of first antiepileptic drug (AED), rather than late add-on choice. METHODS: Thirty-seven MTLE patients aged ≥ 12 years were recruited consecutively with a minimum duration of follow-up of 1 year and intermediate follow-up of 3 months. Patients were divided into two groups: 20/37 taking PER as first add-on due to inefficacy of first AED (first group) and 17/37 taking PER as late add-on due to inefficacy of ≥ 2 AEDs (second group). Efficacy, retention rate, and safety were evaluated. RESULTS: At 3 months, the 70% of the first group had a reduction > 50% of seizure frequency, with six patients becoming also seizure free, while in the second group, only the 23.5% had a reduction > 50% of seizure frequency and none became seizure free (p = 0.005). Six patients of first group were also switched to a monotherapy of PER and five out of six remained seizure free at 12 months. At 1 year of follow-up, efficacy of PER was 70% for the first group, while only of 29.4% for the second group (p = 0.014). Retention rate of the first group at 3 months and 1 year was 85%, while for the second group was, respectively, 82.3% and 64.7%. CONCLUSION: PER was significantly successful and tolerated in MTLE patients when used as first add-on option rather than as late add-on.

Functional activity changes in memory and emotional systems of healthy subjects with déjà vu.

Déjà vu (DV) is a fascinating and mysterious human experience that has attracted interest from psychologists and neuroscientists for over a century. In recent years, several studies have been conducted to unravel the psychological and neurological correlates of this phenomenon. However, the neural mechanisms underlying the DV experience in benign manifestations are still poorly understood. Thirty-three healthy volunteers completed an extensive neuropsychiatric and neuropsychological battery including personality evaluation. The presence of DV was assessed with the Inventory for Deja vu Experiences Assessment. Participants underwent episodic memory learning test, and 2 days later during event-related functional magnetic resonance imaging (fMRI), they are asked to rate old and new pictures as a novel, moderately/very familiar, or recollected. We identified 18 subjects with DV (DV+) and 15 without DV (DV-) matched for demographical, neuropsychological, and personality characteristics. At a behavioral level, no significant difference was detected in the episodic memory tasks between DV+ and DV-. Functional magnetic resonance imaging analysis revealed that DV+, independently from task conditions, were characterized by increased activity of the bilateral insula coupled with reduced activation in the right parahippocampal, both hippocampi, superior/middle temporal gyri, thalami, caudate nuclei, and superior frontal gyri with respect to DV-. Our study demonstrates that individuals who experienced DV are not characterized by different performance underlying familiarity/recollection memory processes. However, fMRI results provide evidence that the physiological DV experience is associated with the employment of different neural responses of brain regions involved in memory and emotional processes.

Psychopathological constellation in patients with PNES: A new hypothesis.

Depression symptoms have often reported in patients with psychogenic nonepileptic seizures (PNES), although the underlying psychopathological symptomatology has been poorly understood. Our aim was to compare constellations of psychological and behavioral disturbance in PNES with respect to patients with mild-major depressive disorder (MDD), hypothesizing that the construct of depression might be different in the two groups. Ten patients with PNES and ten sex-/age-matched patients with mild-MDD newly-diagnosed, were enrolled in this study. A wide neuropsychiatric battery was employed including the following: symptoms checklist 90-R (SCL-90-R), Toronto alexithymia scale (TAS-20), Hamilton anxiety rating scale (HAMA), Beck depression inventory (BDI II), dissociative experiences scale (DES), traumatic experience checklist (TEC), somatoform dissociation questionnaire (SDQ-20), and temperament and character inventory-revised (TCI-R). No significant difference was detected in the large part of psychopathological examination including personality profile between the two groups. However, PNES showed high scores in alexithymia (p=0.02); anxiety (p=0.03), and somatoform symptomatology (p's<0.03) with respect to patients with mild-MDD. Moreover, somatoform symptoms strongly correlated with depression scores in both groups, whereas alexithymia was influenced by high anxiety level only in the group with PNES. No significant relationship was found between traumatic experience (as measured by TEC) and construct of depression. Our proof-of-concept study suggests that patients with PNES are characterized by their inability to verbalize emotions when dealing with anxiety symptoms, therefore expressing them in a somatic dimension. Further researches, including the investigation of the relationship between anxiety status and emotional expression, are warranted to better understand the pathogenesis of PNES.

The application of artificial intelligence to understand the pathophysiological basis of psychogenic nonepileptic seizures.

Psychogenic nonepileptic seizures (PNES) are episodes of paroxysmal impairment associated with a range of motor, sensory, and mental manifestations, which perfectly mimic epileptic seizures. Several patterns of neural abnormalities have been described without identifying a definite neurobiological substrate. In this multicenter cross-sectional study, we applied a multivariate classification algorithm on morphological brain imaging metrics to extract reliable biomarkers useful to distinguish patients from controls at an individual level. Twenty-three patients with PNES and 21 demographically matched healthy controls (HC) underwent an extensive neuropsychiatric/neuropsychological and neuroimaging assessment. One hundred and fifty morphological brain metrics were used for training a random forest (RF) machine-learning (ML) algorithm. A typical complex psychopathological construct was observed in PNES. Similarly, univariate neuroimaging analysis revealed widespread neuroanatomical changes affecting patients with PNES. Machine-learning approach, after feature selection, was able to perform an individual classification of PNES from controls with a mean accuracy of 74.5%, revealing that brain regions influencing classification accuracy were mainly localized within the limbic (posterior cingulate and insula) and motor inhibition systems (the right inferior frontal cortex (IFC)). This study provides Class II evidence that the considerable clinical and neurobiological heterogeneity observed in individuals with PNES might be overcome by ML algorithms trained on surface-based magnetic resonance imaging (MRI) data.

Assessment of Snaith-Hamilton Pleasure Scale (SHAPS): the dimension of anhedonia in Italian healthy sample.

The Snaith-Hamilton Pleasure Scale (SHAPS) is a rapid screening battery created for assessing the presence of anhedonia, namely the inability to experience pleasure. Although, this symptom has widely been investigated in clinical settings, individual differences in anhedonia are also present in healthy population. The aim of present study was to validate the translated Italian version of this test. One thousand six hundred ninety-seven consecutive healthy subjects (55% female) of different ages (age 18-82 years) underwent SHAPS. Participants who showed mild level of anhedonia also completed the Apathy Evaluation Scale (AES), Beck Depression Inventory (BDI), Toronto Alexithymia Scale-20 (TAS), Mood Disorders Insight Scale (MDIS), and Beck Hopelessness Scale (BHS). The SHAPS showed good internal consistency and discriminant validity; moreover, the factorial analysis highlighted that SHAPS had a three-factor structure for explaining the anhedonic construct. 14.9% showed a significant reduction of hedonic tone (SHAPS ≥ 3). Finally, the degree of anhedonia was significantly correlated with BDI and BHS scores, but not with age or gender. Although anhedonia is a prominent feature of many psychiatric and neurological disorders, the presence of this symptom in the healthy population highlighted the importance to develop reliable tool. SHAPS shows good psychometric properties to assess multidimensional anhedonia symptoms also in Italian healthy population.

The movement time analyser task investigated with functional near infrared spectroscopy: an ecologic approach for measuring hemodynamic response in the motor system.

AIMS: Movement time analyzer (MTA) is an objective instrument to evaluate the degree of motor impairment as well as to investigate the dopaminergic drug effect in Parkinson's disease patients. The aim of this study is to validate a new ecologic neuroimaging tool for quantifying MTA-related hemodynamic response of the cortical motor system by means of functional near-infrared spectroscopy (fNIRS). MATERIALS: 11 right-handed healthy volunteers (six male and five female, age range 27-64 years) were studied with fNIRS and functional magnetic resonance imaging (fMRI) while performing MTA task for each hand. RESULTS: MTA performance was better for the dominant hand and younger participants. Both fNIRS and fMRI analyses revealed MTA-related increase of haemoglobin levels in the primary motor and premotor cortices contralateral to the moving hand. This response progressively increased with aging. CONCLUSION: These findings supported the translation of fNIRS-based MTA behavioural tool in clinical practice.

Italian adaptation of the Multidimensional Iowa Suggestibility Scale (MISS).

Background: Suggestibility is a personality trait that reflects a general tendency to accept messages. The Multidimensional Iowa Suggestibility Scale (MISS) is a self-report scale developed to measure the degree of individuals' perceptions of their suggestibility. This study aimed to adapt the MISS in an Italian sample. Methods: We conducted two studies. In the first study, 345 subjects (270 females (78%), mean age = 36.21 years ± 14.06 SD) completed the translated Italian version of the MISS, composed of five subscales (consumer suggestibility; persuadability; sensation contagion; physiological reactivity; peer conformity). We investigated the structural validity of the scale through confirmatory factor analysis (CFA) testing four measurement models (unidimensional, four-factor, hierarchical four factors, and bifactor) and explored reliability in terms of internal consistency through the McDonald's omega. In the second study, we cross-validated the MISS on a new independent sample. We enrolled 277 participants (196 females (71%), mean age 30.56, SD = 12.58) who underwent the new version of the scale. We performed factor analyses to test structural validity and compared four measurement models. Then, we investigated reliability and conducted a latent variable analysis to explore divergent validity. Results: The CFA in the first study revealed a bifactor solution of the MISS. This structure was interpretable and provided an adequate fit for the data. The final version of the scale was reduced to forty-six items with globally good indices of adaptation. The scale also demonstrated acceptable reliability in terms of internal consistency through the McDonald's Hierarchical Omega. In the second study, we found that the bifactor structure was confirmed. Factor loadings inspection revealed that there was no justification to report only the separate scores for the subscales. We also found that the scale showed good internal consistency, but mixed evidence for divergent validity. Conclusions: In the end, the Italian version of the MISS demonstrated good psychometric properties which will be discussed in detail below.

Quantitative analysis of visually normal EEG reveals spectral power abnormalities in temporal lobe epilepsy.

OBJECTIVE: To compare quantitative spectral parameters of visually-normal EEG between Mesial Temporal Lobe Epilepsy (MTLE) patients and healthy controls (HC). METHOD: We enrolled 26 MTLE patients and 26 HC. From each recording we calculated total power of all frequency bands and determined alpha-theta (ATR) and alpha-delta (ADR) power ratios in different brain regions. Group-wise differences between spectral parameters were investigated (p < 0.05). To test for associations between spectral-power and cognitive status, we evaluated correlations between neuropsychological tests and quantitative EEG (qEEG) metrics. RESULTS: In all comparisons, ATR and ADR were significantly decreased in MTLE patients compared to HC, particularly over the hemisphere ipsilateral to epileptic activity. A positive correlation was seen in MTLE patients between ATR in ipsilateral temporal lobe, and results of neuropsychological tests of auditory verbal learning (RAVLT and RAVLT-D), short term verbal memory (Digit span backwards), and executive function (Weigl's sorting test). ADR values in the contralateral posterior region correlated positively with RAVLT-D and Digit span backwards tests. DISCUSSION: Results confirmed that the power spectrum of qEEG is shifted towards lower frequencies in MTLE patients compared to HC. CONCLUSION: Of note, our results were found in visually-normal recordings, providing further evidence of the value of qEEG for longitudinal monitoring of MTLE patients over time. Exploratory analysis of associations between qEEG and neuropsychological data suggest this could be useful for investigating effects of antiseizure medications on cognitive integrity in patients.

May anti-seizure medications alter brain structure in temporal lobe epilepsy? A prospective study.

Mild mesial temporal lobe epilepsy (MTLE) patients may remain untreated for a considerable time after disease onset or achieve seizure control with a single anti-seizures medication (ASM). Thus, they represent an optimal population to investigate whether ASMs might have influence on brain structure. We consecutively enrolled 56 mild MTLE patients (22/56 untreated, 34/56 on-monotherapy) and 58 healthy controls, matched for age and gender. All subjects underwent 3T-brain MRI, using FreeSurfer for automated morphometry. Differences in gray matter were assessed using one-way Analysis of Covariance (ANCOVA), adjusting for age, disease duration and intracranial volume. No significant change was observed between treated and untreated patients. We observed a significant reduction in cortical thickness of left inferior parietal, inferior temporal, middle temporal gyri, and right inferior parietal gyrus, temporal pole in monotherapy patients compared to healthy controls, as well as an increase in left isthmus of cingulate gyrus in untreated MTLE subjects compared to controls. Surface and subcortical volumes analysis revealed no differences among groups. Our study demonstrated no substantial morphological abnormalities between untreated mild MTLE patients and those undergoing monotherapy. Although exploratory, these results may reassure about safety of commonly used drugs and their marginal role in influencing neuroimaging results. PLAIN LANGUAGE SUMMARY: This study investigated the following question: can medications against epileptic seizures have an effect on brain structure in mild mesial temporal lobe? Preliminary results from our analyses suggest not, as we did not find any difference in brain gray matter between untreated patients and those treated with a single anti-seizures medication. On the other hand, epilepsy patients presented cortical thinning compared to healthy controls in several regions of the temporal and parietal lobes, in line with previous studies investigating the disease.

Neuropsychiatric profile in average intelligent individuals with coexisting epilepsy and psychogenic non-epileptic seizures.

Global neuropsychological impairments with intellectual disability (ID) seem to play a major role in the occurrence of psychogenic non-epileptic seizures (PNES) in epilepsy. Conversely, the pathophysiology underlying PNES combined with epilepsy without ID remains elusive. We investigated the neuropsychiatric profile in 26 average intelligent subjects (15 women, mean age: 40.04 ± 13.53 years) with temporal lobe epilepsy (TLE) plus PNES (TLE + PNES), compared with 28 with TLE and 22 with PNES alone, matched for age and sex. All subjects underwent neuropsychiatric assessment, including Beck Depression Inventory-2 (BDI-2), State-Trait Anxiety Inventory (STAI), Dissociative Experiences Scale (DES), Toronto Alexithymia Scale (TAS-20), Traumatic Experience Checklist (TEC), and cognitive evaluation. TLE + PNES and PNES groups shared a similar psychiatric profile with higher levels of depression (BDI-2, P < 0.001), anxiety (STAI-S, P < 0.001; STAI-T, P < 0.001), dissociation (DES, P < 0.001), and alexithymia (TAS, P = 0.005) scales than the TLE group. Nonetheless, like individuals with TLE, patients with TLE + PNES had a lower rate of a potentially traumatizing event than PNES. The very low rate of potentially traumatizing event in subjects with TLE + PNES leads us to hypothesize that epilepsy itself may be the psychophysiological distress that contributed to PNES. A psychopathological assessment in subjects with epilepsy is crucial to identify those more likely to develop PNES.

Acute confusional migraine in CADASIL: A case report and literature review.

BACKGROUND: Acute confusional state associated with migraine in adults is an infrequent entity. Around 30-60% of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients get affected by migraine attacks-the majority with aura-often as the first symptom of the disease. Acute confusional state during migraine has been rarely described in CADASIL patients and a complete neuropsychological assessment during the acute phase has never been conducted so far. CASE SUMMARY: We here describe the clinical and neuropsychological features of two distinct episodes of ACM in a 54-year-old female with CADASIL. EEG recording during acute confusional migraine and after attack resolution and neuroimaging has been reported. DISCUSSION AND LITERATURE REVIEW: This paper also reports a literature review on the topic of ACM in CADASIL highlighting a lack of adequate knowledge about this entity among clinicians and prompting further larger studies to explore its incidence and characteristics.

The relationship between maternal-fetus attachment and perceived parental bonds in pregnant women: Considering a possible mediating role of psychological distress.

Maternal-Fetal Attachment (MFA) delineates the emotional, cognitive, and behavioral aspects that mothers develop toward the unborn baby during pregnancy. The literature indicates that optimal attachment in pregnancy represents a protective factor for the mother-child attachment bond after birth and child development outcomes. To date, there are few studies that have investigated associated factors of MFA. This study sets out to explore the association between perceived parental bonds and maternal-fetal bonding in pregnant women, accounting for factors such as psychological distress, socio-demographic and obstetric characteristics. Methods: In this cross-sectional study, 1,177 pregnant women answered the Parental Bonding Instrument, the Maternal-Fetal Attachment Scale, State-Trait Anxiety Inventory (STAI-Y), and Beck-Depression Inventory (BDI-II). Results: We found out that perceived maternal and paternal care had significant direct effects on maternal-infant bonding during the pregnancy period when controlling for some confounders, including gestational age and mother age among others. Such maternal and paternal perceived care effects were not mediated by levels of psychological distress, which in turn resulted to be a "borderline" significant predictor of prenatal attachment. Interestingly, the gestational age and the mother age emerged to have a significant and synergic nonlinear effect, suggesting the influence on the MFAS of the gestational age depends on the values of the mother age, and likewise, the effect of mother age on MFAS depends on the gestational week. Conclusion: This study expands our knowledge of the intergenerational transmission of attachment pointing out the effects of a woman's perceived bond in relation to her parental figures during the development of the prenatal attachment process. Findings also suggests that parenting support interventions may have benefits that are realized across generations.