Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition, whose etiology remains poorly understood in most cases. Several genetic, epigenetic and environmental factors have been ...implicated in ASD pathogenesis and numerous studies have provided evidences for increased levels of oxidative stress and reduced antioxidant capacity in patients with ASD. Recent clinical trials explored supplementation with antioxidant agents as a potential therapeutic strategy for ASD, investigating the impact of this treatment on behavioral symptoms and on most common comorbidities of the disease, including sleep disturbances. Among all medical conditions associated to ASD, sleep problems are highly prevalent and are supposed to be positively related to the severity of the disease. Moreover, studies on animal models support the hypothesis of a relationship between oxidative stress and sleep deprivation. The aim of this review is to summarize the current state of the literature on the effect of antioxidant treatment on sleep disturbances in patients with ASD. Twenty-one articles were included in final synthesis. Of them, 15 studies involved Melatonin, 1 Tryptophan and 5 focused on supplementation with other antioxidant agents (namely Coenzyme Q10, L-Carnosine, Luteolin and Quercetin). Despite the high prevalence of comorbid sleep troubles in ASD, there is a paucity of data on the efficacy of antioxidant agents in those patients. Further research is needed to better define the role of antioxidants agents as adjunctive therapy in the management sleep disorders in children and adolescents affected with ASD.
Introduction
From the beginning of the COVID-19 pandemic, healthcare workers had to face unprecedented emergency needs associated with an extraordinary amount of psychological distress. In this ...cross-sectional multicenter study, we investigated sleep disturbances, and the level of anxiety and depression among the healthcare and non-healthcare staff of three hospitals in Milan (Italy) during the COVID-19 outbreak. Moreover, we explored potential predisposing factors for affective symptoms and poor sleep.
Methods
Between June and July 2020, we administered an online questionnaire to evaluate the presence of sleep disorders (Pittsburgh Sleep Quality Index), insomnia (Sleep Condition Indicator), anxiety (State Trait Anxiety Inventory), and depression (Beck Depression Inventory-II). We used univariate and multivariate analysis to evaluate the association between the personal conditions and sleep and affective disorders.
Results
The 964 participants reported high rates of sleep disorders (80.3%)—mainly insomnia (30.5%)—anxiety (69.7%), and depression (32.8%). The multivariate analysis showed a strong association of sleep disorders, especially insomnia, with female gender (
p
= 0.004), divorced marital status (
p
= 0.015), self-isolation (
p
= 0.037), and chronic diseases (
p
= 0.003). Anxiety was significantly associated with teleworking (
p
= 0.001), while depressive symptoms were associated with self-isolation (
p
= 0.028), modified work schedules (
p
= 0.03), and chronic diseases (
p
= 0.027).
Conclusion
In hospital workers, the high prevalence of sleep and psychiatric symptoms during the COVID-19 outbreak appears to be determined mainly by modifications of personal or work habits. Teleworking was associated with increased anxiety. An accurate planning of hospital activities and a psychological support are needed to prevent and manage sleep and mental disorders.
Individuals harboring pathogenic variants in
ARHGEF9
, encoding an essential submembrane protein for gamma-aminobutyric acid (GABA)–ergic synapses named collybistin, show intellectual disability ...(ID), facial dysmorphism, behavioral disorders, and epilepsy. Only few affected females carrying large chromosomal rearrangements involving
ARHGEF9
have been reported so far. Through next-generation sequencing (NGS)–based panels, we identified two single nucleotide variants (SNVs) in
ARHGEF9
in two females with neurodevelopmental features. Sanger sequencing revealed that these variants were de novo. The X-inactivation pattern in peripheral blood cells was random. We report the first affected females harboring de novo SNVs in
ARHGEF9
, expanding the genotypic and phenotypic spectrum of
ARHGEF9
-related neurodevelopmental disorder in females.
People with epilepsy have a higher prevalence of behavioral and neuropsychiatric comorbidities compared to the general population and those with other chronic medical conditions, although the ...underlying clinical features remain unclear. The goal of the current study was to characterize behavioral profiles of adolescents with epilepsy, assess the presence of psychopathological disorders, and investigate the reciprocal interactions among epilepsy, psychological functioning, and their main clinical variables.
Sixty-three adolescents with epilepsy were consecutively recruited at the Epilepsy Center, Childhood and Adolescence Neuropsychiatry Unit of Santi Paolo e Carlo hospital in Milan (five of them were excluded) and assessed with a specific questionnaire for psychopathology in adolescence, such as the Questionnaire for the Assessment of Psychopathology in Adolescence (Q-PAD). Q-PAD results were then correlated with the main clinical data.
55.2% (32/58) of patients presented at least one emotional disturbance. Body dissatisfaction, anxiety, interpersonal conflicts, family problems, uncertainty about the future, and self-esteem/well-being disorders were frequently reported. Gender and poor control of seizures are associated with specific emotional features (
< 0.05).
These findings highlight the importance of screening for emotional distress, recognition of the impairments, and provision of adequate treatment and follow-up. A pathological score on the Q-PAD should always require the clinician to investigate the presence of behavioral disorders and comorbidities in adolescents with epilepsy.
Vagus nerve stimulation (VNS) is a useful tool for drug-resistant epilepsy, but it induces known laryngeal side effects, with a significant role on patients’ quality of life. VNS patients may show ...persistent left vocal fold (LVF) palsy at rest and/or recurrent LVF adduction during stimulation. This study aims at electromyographically evaluating laryngeal muscles abnormalities in VNS patients. We compared endoscopic laryngeal evaluation data in six VNS patients with laryngeal muscle electromyography (LMEMG) carried out on the thyroarytenoid, cricothyroid, posterior cricoarytenoid, and cricopharyngeal muscles. Endoscopy showed LVF palsy at rest in 3/6 patients in whom LMEMG documented a tonic spastic activity with reduced phasic modulation. In four out of six patients with recurrent LVF adduction during VNS activation, LMEMG showed a compound muscle action potential persisting for the whole stimulation. This is the first LMEMG report of VNS-induced motor unit activation via recurrent laryngeal nerve and upper laryngeal nerve stimulation. LMEMG data were could, therefore, be considered consistent with the endoscopic laryngeal examination in all patient.
Sex differences in epilepsy have been described in prevalence, seizure propensity and response to treatment. Therefore, taking into account sex-based differences in epilepsy is important for both ...diagnostic purposes and therapeutic considerations. However, little is known about sex differences in adverse effects of antiseizure medications (ASMs).
We performed a systematic review searching for sex differences in adverse effects of ASMs in adult persons with epilepsy (PWE) as part of a wider project aimed to assess sex-based differences in efficacy and adverse effects of ASMs in PWE.
We conducted a comprehensive literature search in the PubMed database. The search was conducted with no restriction on publication date, and all results up to April 2020 were included. We included articles written in English, Italian, Spanish, or French that evaluated adverse effects of one or more ASMs in PWE, with specific mention of the two sexes. When appropriate, Newcastle-Ottawa or Jadad scales were used to assess study quality.
Of 5164 identified studies, only 167 considered sex in the analysis and were therefore included. Significant sex-related differences were found in 58 of those studies. We found a consistently higher frequency of cutaneous adverse effects in females; higher risk of developing general adverse effects on different ASMs in females; stronger risk of adverse effects on bone metabolism in females, mainly on treatment with enzyme-inducing ASMs; a concordant higher risk of visual field loss was noted in males on vigabatrin; an overall worse lipid profile in males; as well as higher leptin levels and higher body mass index in females treated with various ASMs.
Our analysis has identified some important sex differences in the adverse effects of ASMs. Clinicians should be aware of these differences when informing patients about the risks associated with ASM treatment in PWE.
•We analyzed PNES in individuals with and without intellectual disability (ID).•Clinical management of PNES is similar in both groups of individuals.•Demographic, clinical data and PNES semiology ...were comparable between the groups.•Cognitive behavioral therapy (CBT) is effective treatment for patients with ID/BIF.
We set out to characterize psychogenic non-epileptic seizures (PNES) in individuals with either intellectual disability (ID) or borderline intellectual function (BIF) in comparison to those with normal cognitive function. We aimed to identify differences between the two groups to improve clinical management protocols.
We conducted a retrospective, observational, single-center study. The medical records of individuals (aged ≥ 14 years) diagnosed with PNES, confirmed through video-electroencephalography (vEEG) at a specialized epilepsy center between January 2008 and December 2021, were reviewed. We restricted our study to individuals who underwent comprehensive neuropsychological evaluations. Furthermore, demographic, clinical, and neuropsychological data with potential prognostic indicators, alongside the reevaluation of vEEG recordings were studied. We compared two study groups based on intelligence quotient (IQ): individuals without ID (IQ≥85; n = 25) and those with either mild ID or BIF (n = 25).
No statistically significant clinical differences were observed between the two groups. Individuals with mild ID/BIF didn't show a longer diagnostic delay, and the prescription of inappropriate antiseizure medications (ASMs) was comparable in both cohorts. Most individuals with mild ID/BIF were treated with behavioral psychotherapeutic approaches with similar outcomes in both subgroups.
Individuals with mild ID/BIF and PNES don't differ in clinical management. Demographic and clinical data, as well as semiology, were comparable to those of individuals with normal cognitive function. Cognitive behavioral therapy (CBT) appears to be an effective treatment approach for individuals with and without mild ID/BIF. Further studies are needed to validate and ascertain their possible applicability in individuals with moderate/severe ID.
Sleep and epilepsy interact with each other in a complex bidirectional way.
The main objective of this study was to characterize and determine the prevalence of sleep and behavioral disorders among ...Italian children and adolescents with epilepsy.
We asked 84 consecutive parents/caregivers of patients with epilepsy aged between 6 and 17 years old to fill out the Sleep Disturbances Scale for Children (SDSC) and Child Behavior Checklist (CBCL).
An abnormal total sleep score was found in 20 subjects with epilepsy (23.8%), compared with 4 (4.4%) of control group (P < .001). Forty-eight patients (57.1%) had an abnormal score in at least one SDSC factor: disorders in initiating and maintaining sleep (DIMS; 13.1%), sleep breathing disorders (SBD; 13.1%), disorders of arousal (DA; 5.9%), sleep–wake transition disorders (SWTD; 15.5%), disorders of excessive somnolence (DOES; 20.2%), and sleep hyperhidrosis (SHY; 5.9%). Patients with epilepsy showed higher prevalence of behavioral/emotional disturbances in all CBCL domains but one compared with patients without epilepsy. The SDSC and CBCL total scores showed a significant correlation (R-square = 0.256; P < .001).
Sleep and behavioral/emotional disorders are common in epilepsy during childhood and adolescence. The SDSC could be a valid tool to screen sleep disturbances in this group of patients.
•Children and adolescents with epilepsy were found to have report of more sleep paroxysmal episodes, daytime excessive sleepiness and internalizing disorders than controls.•There is a positive correlation between SDSC and CBCL total scores, focusing on the reciprocal interplay between sleep and behavior in subjects with epilepsy.•The occurrence of seizures during sleep is associated with higher scores in some CBCL domains.•It is necessary to have simple and valid tools to guide the clinicians and SDSC could be very useful for screening sleep disturbances.
PDF
