Memory performances and personality traits in mothers of children with obstructive sleep apnea syndrome

Background: Chronic diseases in pediatric age have been identified as stressful risk factors for parents. Studies on caregivers have documented the impact of chronic parenting stress on emotion and cognition.Aim: To investigate the differences between a group of mothers of children affected by obstructive sleep apnea syndrome (OSAS) for at least 4 years and a group of mothers of typically developing children (TDC) in relation to parental stress, self-esteem, locus of control, and memory performances.Methods: A group of 86 mothers (mean age 35.6 +/- 4.9, ranged between 32 and 41 years) of children with OSAS diagnosis, and a group of 52 mothers of TDC (mean age 35.9 +/- 4.2, ranged between 32 and 41 years) participated in the study. All participants were administered stress level, global self-esteem, internal/external locus of control scales, and memory assessment.Results: Mothers of OSAS children, compared to mothers of TDC, had a significantly higher level of stress, lower self-esteem, more external locus of control and poorer memory performance.Conclusions: The child respiratory disease, with its sudden and unpredictable features, appeared as a significant source of stress for the mother. Such stress condition may have an impact on mothers' personality traits (self-esteem, locus of control) and on their memory performances. The data have suggested a need for psychological support programs for mothers to better manage stress associated with children's respiratory disease

Perampanel and Visuospatial Skills in Children With Epilepsy

Introduction: Perampanel (PER) is a non-competitive AMPA glutamate receptor antagonist approved for focal and generalized seizures as add-on therapy. PER does not seem to negatively affect the cognitive profile in children and adolescents, but its influence on visuospatial abilities is still to be assessed. The aim of our study was to assess visuospatial skills through a standardized neuropsychological evaluation in adolescents taking PER for 12 months. Methods: Our sample included 46 adolescents aged 12–18 years with focal and generalized drug-resistant epilepsy already in therapy with one or two antiseizure medications. Changes in visuospatial perception and memory were assessed by the Rey–Osterrieth Complex Figure Test at baseline (before taking PER) and after 12 months of pharmacological treatment. Executive functions and non-verbal intelligence were also assessed at baseline. Results: After 12 months of PER therapy, the mean scores on the Rey–Osterrieth Complex Figure Test remained almost unchanged for both visuospatial perception and visuospatial memory skills. At baseline, visuospatial memory was related to executive function, and visuospatial perception was related to executive function and non-verbal intelligence. Conclusions: Adjunctive treatment with PER did not negatively affect visuospatial skills. No adverse event effects have been reported after 12 months of follow-up, and this suggests a good tolerability in the middle-to-long term

Neuropsychological profile, emotional/behavioral problems, and parental stress in children with neurodevelopmental disorders

Background: The aim of our study was to trace a specific neuropsychological profile, to investigate emotional-behavioral problems and parental stress in children with Autism Spectrum Disorder Level 1/High functioning (ASD-HF), Specific Learning Disorders (SLD) and Attention Deficit/Hyperactivity Disorder (ADHD) disorders and to highlight similarities and differences among the three groups. Methods: We retrospectively collected the data from a total of 62 subjects with ASD-HF (n = 19) ADHD (n = 21), SLD (n = 22) and 20 typical development. All the participants underwent neuropsychological standardized test for the evaluation of cognitive profile (Wechsler Intelligence Scale for Children Fourth Edition-WISC-IV), behavioral and emotional problems (Child Behavior CheckList CBCL), and parental stress (Parental Stress Index Short Form-PSI-SF). The scores of the ASD-HF, ADHD, and SLD groups were compared using non-parametric statistic methods (Kruskall-Wallis H test and U Mann-Whitney for post-hoc analysis). Results: The ASD-HF group were significantly higher in all areas of the WISC-IV than the other two clinical groups. The SLD group performed significantly lower than ASD-HF in Working Memory Index. The SLD group showed lower scores on the somatic problems subscale than the other two groups. In the Difficult Child subscale of the PSI-SF, parents of ADHD children scored lower than the mothers of SLD subjects and higher than the fathers of SLD subjects. In all three groups there are specific deficiencies compared to the control group in the cognitive profile, behavioral and emotional problems, and parental stress. Conclusions: Our comparative analysis highlighted similarities and differences in three groups of children with different neurodevelopmental disorders, helping to better define cognitive, behavioral, and emotional characteristics of these children and parental stress of their parents

Role of folic acid depletion on homocysteine serum level inchildren and adolescents with epilepsy and different MTHFR C677T genotypes.

Homocysteine (Hcy) is a sulfur-containing amino acid involved in methionine metabolism. An elevated total plasma Hcy concentration (tHcy) is a risk factor for vascular disease. The present study aimed to assess the role of antiepileptic drugs (AEDs) and C677T methylenetetrahydrofolate (MTHFR) polymorphisms on tHcy in pediatric patients with epilepsy treated for at least 6 months with various treatment regimens protocols including the newer AEDs. The study group was recruited from children and adolescents with epilepsy followed up in the Child Neuropsychiatry Clinic of the Second University of Naples, between January 2007 and March 2008. Inclusion criteria were: (1) patients with epilepsy, treated with one or more anticonvulsant drugs for at least 6 months; (2) age between 2 and 16 years. Plasma tHcy concentrations were considered elevated when they exceeded 10.4 mmol/L, and folate concentrations <3 ng/mL were considered deficient. Serum vitamin B12 levels were considered normal between 230 and 1200 pg/mL. The study group was composed of 78 patients (35 males, 43 females), aged between 3 and 15 years (mean 8.9 years). Thirtyfive patients were taking AED monotherapy, 43 polytherapy. Sixty-three healthy sex- and age-matched children and adolescents served as controls. The mean tHcy value in the patient group was higher than the mean value in the control group (12.11 7.68 mmol/L vs 7.4 4.01 mmol/L; p < 0.01). DNA analysis for the MTHFR C677T polymorphism showed the CT genotype in 46%, CC in 35% and TT in 17.8% of cases. Decreased folic acid serum levels significantly correlated with increased tHcy levels (p < 0.003). Female sex was a less significant risk factor for increased tHcy levels (p = 0.039). Our study confirms the association between hyperhomocysteinemia and epilepsy. The elevation of tHcy is essentially related to low folate levels. Correction of poor folate status, through supplementation, remains the most effective approach to normalize tHcy levels in patients on AED mono- or polytherapy

Facial emotion recognition in children and adolescents with specific learning disorder

(1) Background: Some recent studies suggest that children and adolescents with different neurodevelopmental disorders perform worse in emotions recognition through facial expressions (ER) compared with typically developing peers. This impairment is also described in children with Specific Learning Disorders (SLD), compromising their scholastic achievement, social functioning, and quality of life. The purpose of our study is to evaluate ER skills in children and adolescents with SLD compared to a control group without learning disorders, and correlate them with intelligence and executive functions. (2) Materials and Methods: Our work is a cross-sectional observational study. Sixty-three children and adolescents aged between 8 and 16 years, diagnosed with SLD, and 32 sex/age-matched controls without learning disorders were recruited. All participants were administered standardized neuropsychological tests, evaluating facial emotion recognition (NEPSY-II), executive functions (EpiTrack Junior), and intelligence profile (WISC-IV). (3) Results: Emotion recognition mean score was significantly lower in the SLD group than in the controls group on the Mann–Whitney U test for unpaired samples (p &lt; 0.001). The SLD group performed significantly lower than the control group in their abilities to identify neutral expressions, happiness, sadness, anger, and fear compared to controls (p &lt; 0.001). ER scores were positively correlated to the executive functions scores. There was no correlation with the Total Intelligence Quotient scores but there is a significant positive correlation with Working Memory Index and Processing Speed Index measured by WISC.IV. (4) Conclusions: Our study showed that children and adolescents with Specific Learning Disorders have facial emotion recognition impairment when compared with a group of peers without learning disorders. ER abilities were independent of their global intelligence but potentially related to executive functions

Emotional intelligence in children with severe sleep-related breathing disorders

Background. Obstructive sleep apnea syndrome (OSAS) affects up to 4% of a pediatric population, with many comorbidities in the medium-long term. Functional alterations in the prefrontal cortex (PFC) may explain why OSAS impacts aspects such as executive functions, memory, motor control, attention, visual-spatial skills, learning, and mood regulation. Emotional intelligence (EI) is a complex neuropsychological function that could be impaired in many clinical conditions. Purpose. The aim of the study is to evaluate the difference in emotional intelligence skills among children with OSAS and healthy subjects (nOSAS). Methods. 129 children (72 males; mean age 7.64 ± 1.98 years) affected by OSAS were compared to 264 non-OSAS (nOSAS) children (138 males; mean age 7 98 ± 2.13) similar for gender, age, and socioeconomic status. In order to assess the emotional quotient, the Bar-On Emotional Quotient Inventory: Youth Version (EQ-i:YV) was used. Results. The comparison for means and standard deviation between OSAS children and nOSAS children for EQ-i:YV scores showed significant differences for Interpersonal, Adaptability, and Stress Management scales and EQ Total score. Conclusions. Our findings highlighted the role of intermittent hypoxia in the genesis of the effects of sleep-related respiratory disorders, which involves also aspects different from physical impairments

The broad-spectrum activity of perampanel: state of the art and future perspective of AMPA antagonism beyond epilepsy

Glutamate is the brain’s main excitatory neurotransmitter. Glutamatergic neurons primarily compose basic neuronal networks, especially in the cortex. An imbalance of excitatory and inhibitory activities may result in epilepsy or other neurological and psychiatric conditions. Among glutamate receptors, AMPA receptors are the predominant mediator of glutamate-induced excitatory neurotransmission and dictate synaptic efficiency and plasticity by their numbers and/or properties. Therefore, they appear to be a major drug target for modulating several brain functions. Perampanel (PER) is a highly selective, noncompetitive AMPA antagonist approved in several countries worldwide for treating different types of seizures in various epileptic conditions. However, recent data show that PER can potentially address many other conditions within epilepsy and beyond. From this perspective, this review aims to examine the new preclinical and clinical studies—especially those produced from 2017 onwards—on AMPA antagonism and PER in conditions such as mesial temporal lobe epilepsy, idiopathic and genetic generalized epilepsy, brain tumor-related epilepsy, status epilepticus, rare epileptic syndromes, stroke, sleep, epilepsy-related migraine, cognitive impairment, autism, dementia, and other neurodegenerative diseases, as well as provide suggestions on future research agenda aimed at probing the possibility of treating these conditions with PER and/or other AMPA receptor antagonists

Low penetrance and effect on protein secretionof LGI1 mutations causing autosomal dominantlateral temporal epilepsy

Purpose: To describe the clinical and genetic findings of four families with autosomal dominant lateral temporal epilepsy. Methods: A personal and family history was obtained from each affected and unaffected subject along with a physical and neurologic examination. Routine electroencephalography and magnetic resonance imaging (MRI) studies were performed in almost all patients. DNAs from family members were screened for LGI1 mutations. The effects of mutations on Lgi1 protein secretion were determined in transfected culture cells. Key Findings: The four families included a total of 11 patients (two deceased), six of whom had lateral temporal epilepsy with auditory aura. Age at onset was in the second decade of life; seizures were well controlled by antiepileptic treatment and MRI studies were normal. We found two pathogenic LGI1 mutations with uncommonly low penetrance: the R136W mutation, previously detected in a sporadic case with telephone-induced partial seizures, gave rise to the epileptic phenotype in three of nine mutation carriers in one family; the novel C179R mutation caused epilepsy in an isolated patient from a family where the mutation segregated. Another novel pathogenic mutation, I122T, and a nonsynonymous variant, I359V, were found in the two other families. Protein secretion tests showed that the R136W and I122T mutations inhibited secretion of the mutant proteins, whereas I359V had no effect on protein secretion; C179R was not tested, because of its predictable effect on protein folding. Significance: These findings suggest that some LGI1 mutations may have a weak penetrance in families with complex inheritance pattern, or isolated patients, and that the protein secretion test, together with other predictive criteria, may help recognize pathogenic LGI1 mutations. KEY WORDS: Autosomal dominant lateral temporal epilepsy, LGI1, Mutation, Low penetrance, Protein secretion

The relation between APOE genotype and cerebral microbleeds in cognitively unimpaired middle- and old-aged individuals

Positive associations between cerebral microbleeds (CMBs) and APOE-ε4 (apolipoprotein E) genotype have been reported in Alzheimer's disease, but show conflicting results. We investigated the effect of APOE genotype on CMBs in a cohort of cognitively unimpaired middle- and old-aged individuals enriched for APOE-ε4 genotype. Participants from ALFA (Alzheimer and Families) cohort were included and their magnetic resonance scans assessed (n = 564, 50% APOE-ε4 carriers). Quantitative magnetic resonance analyses included visual ratings, atrophy measures, and white matter hyperintensity (WMH) segmentations. The prevalence of CMBs was 17%, increased with age (p < 0.05), and followed an increasing trend paralleling APOE-ε4 dose. The number of CMBs was significantly higher in APOE-ε4 homozygotes compared to heterozygotes and non-carriers (p < 0.05). This association was driven by lobar CMBs (p < 0.05). CMBs co-localized with WMH (p < 0.05). No associations between CMBs and APOE-ε2, gray matter volumes, and cognitive performance were found. Our results suggest that cerebral vessels of APOE-ε4 homozygous are more fragile, especially in lobar locations. Co-occurrence of CMBs and WMH suggests that such changes localize in areas with increased vascular vulnerability