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Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children with typical development. All subjects underwent at least 1 overnight polysomnographic recording (PSG). All recorded data obtained from patients and controls were compared. In children with FXS, all PSG-recorded parameters resulted pathological values compared to those obtained from controls, and in FXS children only, we recorded interictal epileptiform discharges (IEDs), as diffuse or focal spikes and sharp waves, usually singles or in brief runs with intermittent or occasional incidence. A possible link between IEDs and alterations in the circadian sleep-wake cycle may suggest a common dysregulation of the balance between inhibitory and excitatory pathways in these patients. The alteration in sleep pattern in children with FXS may negatively impact the neuropsychological and behavioral functioning, adding increasing burn of the disease on the overall management of these patients. In this regard, treating physicians have to early detect sleep disturbances in their patients for tailored management, in order to prevent adjunctive comorbidities.

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.

Valutazione delle abilità neurocognitive in bambini affetti da sindrome delle apnee ostruttive in sonno prima e dopo adenotonsillectomia.La Sindrome delle Apnee Ostruttive del Sonno (OSAS, Obstructive Sleep Apnea Syndrome) è la forma più severa di Disturbo Respiratorio Sonno-correlato (SRDB, Sleep-related Disordered Breathing) ed è caratterizzata da russamento, apnee, e/o ipopnee associate a ipossia, ipercapnia, o ripetuti risvegli dal sonno (arousals). L’OSAS include tre categorie di morbidità: neurocomportamentali, cardiovascolari, disturbi della crescita somatica. Il gold standard per la diagnosi oggettiva di severità del SRDB ostruttivo è rappresentato dalla polisonnografia (PSG). L’indicazione al trattamento chirurgico nei bambini è la diagnosi di OSAS moderata-severa (indice di apnea-ipopnea5/h) e di OSAS lieve (indice di apnea-ipopnea 2-5/h) se sono presenti complicanze o comorbidità. Lo spettro intero di SRDB definiti mediante PSG (dal Russamento Primario all’OSAS severa) potrebbe correlare con deficit comportamentali, attentive e delle funzioni esecutive dovuti all’ipossia ed alla frammentazione del sonno: in alcuni casi, queste alterazioni possono mimare il Disturbo da deficit di Attenzione con Iperattività (ADHD, Attention Deficit Hyperactivity Disorder). Lo scopo di questa ricerca è stato quello di valutare le abilità visuopercettive e costruttive, i punteggi al Pediatric Sleep Questionnaire ed alla PSG prima e dopo l’intervento di adenotonsillectomia fornendo informazoni oggettive e soggettive. Abbiamo incluso in questo studio 59 bambini sottoposti a valutazione clinica otorinolaringoiatrica e neuropsichiatrica e poi al test di Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI) ed ai genitori veniva chiesto di compilare il Pediaric Sleep Questionnaire (PSQ); ogni bambino veniva sottoposto a PSG. Dopo 6 mesi dall’intervento di adeotonsillectomia sono state ripetute tutte le valutazioni come al tempo 0. L’analisi statistica evidenzia risultati significativi al PSQ, VMI standard e visivo ed ai parametri polisonnografici se confrontati prima e dopo l’intervento chirurgico di adenotonsillectomia nei bambini affetti da OSAS moderata-severa. Questi risultati hanno mostrato il raggiungimento dei vantaggi terapeutici attraverso il miglioramento della qualità della vita dei bambini e dei loro genitori.Obstructive sleep apnoea syndrome (OSAS) is the most severe form of sleep-related disordered breathing (SRDB) and is characterised by snoring, apnoeas, and/or hypopnoeas associated to hypoxia, hypercarbia, or repeated arousals from sleep. OSAS has three major categories of morbidities: neurobehavioural, cardiovascular and somatic growth failure. The gold standard for objective diagnosis of obstructive-SRDB severity is polysomnography (PSG). The indication for surgical treatment in children is moderate-severe OSAS (AHI, apnoea hypopnoea index5/h) and in mild OSAS (AHI 2-5/h) with complications or morbidity. The entire spectrum of PSG-defined SRDB (ranging from Primary Snoring to severe OSAS) may correlate with behavioural, attentional and executive function deficits relating to hypoxia and sleep disruption: in some cases, these alterations may mimic attention deficit hyperactivity disorder (ADHD). The aim of this research was to evaluate visuoperceptual and constructional abilities, paediatric sleep questionnaire and polysomnographic scores before and 6 months after adenotonsillectomy with objective and subjective information. We included 59 children who underwent neuropsychiatric and otolaryngologist clinical evaluation and the Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI); children parents were asked to fill in the Paediatric Sleep Questionnaire (PSQ); each child underwent PSG. At 6 months after adenotonsillectomy, all patients were evaluated again. There is a significant difference in PSQ parameters, VMI standard, visual tests scores and PSG parameters before and after adenotonsillectomy in children affected by OSAS. These results showed the achievement of therapeutic benefits with improvement of the quality of life for both children and their parents.

Background and objectives: Coronavirus disease 2019 (COVID-19) is a highly contagious infectious disease, responsible for a global pandemic that began in January 2020. Human/COVID-19 interactions cause different outcomes ranging from minor health consequences to death. Since social interaction is the default mode by which individuals communicate with their surroundings, different modes of contagion can play a role in determining the long-term consequences for mental health and emotional well-being. We examined some basic aspects of human social interaction, emphasizing some particular features of the emotional contagion. Moreover, we analyzed the main report that described brain damage related to the COVID-19 infection. Indeed, the goal of this review is to suggest a possible explanation for the relationships among emotionally impaired people, brain damage, and COVID-19 infection. Results: COVID-19 can cause several significant neurological disorders and the pandemic has been linked to a rise in people reporting mental health problems, such as depression and anxiety. Neurocognitive symptoms associated with COVID-19 include delirium, both acute and chronic attention and memory impairment related to hippocampal and cortical damage, as well as learning deficits in both adults and children. Conclusions: Although our knowledge on the biology and long-term clinical outcomes of the COVID-19 infection is largely limited, approaching the pandemic based on lessons learnt from previous outbreaks of infectious diseases and the biology of other coronaviruses will provide a suitable pathway for developing public mental health strategies, which could be positively translated into therapeutic approaches, attempting to improve stress coping responses, thus contributing to alleviate the burden driven by the pandemic.

Children with migraine headaches appear to have a range of sleep disturbances. The aim of the present study was to assess the NREM sleep instability in a population of school-aged individuals affected by migraine without aura (MoA). Thirty-three children with MoA (20 males, 13 females, mean age 10.45 ± 2.06 years) underwent to overnight Polysomnographic (PSG) recordings and Cyclic Alternating Pattern (CAP) analyses accordingly with international criteria. MoA group showed a reduction in sleep duration parameters (TIB, SPT, TST; p ≤ 0.001 for all) and in arousal index during REM sleep and an increase in awakenings per hour (AWK/h) vs. Controls (C) (p = 0.008). In particular, MoA children showed a reduced CAP rate% (p ≤ 0.001), CAP rate% in S1 (p ≤ 0.001) and CAP rate% in SWS (p = 0.004) vs. C. Moreover, A phases distribution were characterized by a reduction in slow wave components (total number CAP A1%, CAP A1 index) (p ≤ 0.001) and an increase of fast components representation (total number of CAP A2% and CAP A3%) (p < 0.001) in MoA vs. C. Moreover, MoA children showed an increased A1 and A2 mean duration (p ≤ 0.001). Our findings show a reduction of arousability in MoA group and lower NREM lower sleep instability associated with MoA in children.

Background: Primary monosymptomatic nocturnal enuresis (PMNE) may have a stressful impact on the everyday life of children and parents, and it may represent a cumulative stress factor increasing feelings of "learned helplessness." Methods: The current study investigated parental stress in a group of parents (n = 330) of children affected by PMNE, compared to a group of parents (n = 330) of typical developing children (TDC). In addition, the study evaluated whether parents of PMNE children experience more emotional, social, and behavioral problems in their children, compared to parents of TDC. Finally, the study correlated frequency of enuresis with stress values and Child Behavior Checklist (CBCL) subscales and total stress with CBCL. Both groups were given The Parental Stress Inventory-Short Form (PSI-SF) and the Child Behavior Checklist (CBCL). Results: Parents of PMNE children showed significantly higher stress level than parents of TDC. Nocturnal enuresis, as a demanding clinical condition difficult to control, represents a relevant stress factor. Mothers appeared as more vulnerable to stress than fathers. Parents of PMNE children reported higher behavioral and emotional problems, compared to reports of parents of TDC. PMNE children appeared to their parents as having lower competency in social activities, school performance, and social relationships than TDC. Moreover, they were rated as more withdrawn, anxious-depressed, more aggressive, inattentive, and with more somatic complaints than healthy children. It was always the mother who rated a significantly higher number of emotional, social, and behavioral problems compared to fathers. Correlational analysis showed that the higher the frequency of enuresis, the greater the parental stress level, the lower the social activities, school performance and relational competencies and the higher the emotional, social and behavioral problems in children, according to the parents' evaluations. The greater the parental stress level, the lower the competencies rated and the higher the behavioral problems detected by parents. Conclusion: The physicians who deal with PMNE children have taken into account the stressful role and emotional dimensions of this clinical condition, both for children and mothers, in order to improve clinical management. Psychological support is needed for parents, and mothers especially, for a more functional stress management related to the PMNE.

Introduction: Sleep and migraine share a common pathophysiological substrate, although the underlying mechanisms are unknown. The serotonergic and orexinergic systems are both involved in the regulation of sleep/wake cycle, and numerous studies show that both are involved in the migraine etiopathogenesis. These two systems are anatomically and functionally interconnected. Our hypothesis is that in migraine a dysfunction of orexinergic projections on the median raphe (MR) nuclei, interfering with serotonergic regulation, may cause Non-Rapid Eye Movement parasomnias, such as somnambulism. Hypothesis/theory: Acting on the serotonergic neurons of the raphe nuclei, the dysfunction of orexinergic neurons would lead to a higher release of serotonin. The activation of serotonergic receptors located on the walls of large cerebral vessels would lead to abnormal vasodilatation and consequently increase transmural pressure. This process could activate the trigeminal nerve terminals that innervate vascular walls. As a consequence, there is activation of sensory nerve endings at the level of hard vessels in the meninges, with release of pro-inflammatory peptides (e.g., substance P and CGRP). Within this hypothetical frame, the released serotonin could also interact with trigeminovascular afferents to activate and/or facilitate the release of the neuropeptide at the level of the trigeminal ganglion. The dysregulation of the physiological negative feedback of serotonin on the orexinergic neurons, in turn, would contribute to an alteration of the whole system, altering the sleep–wake cycle. Conclusion: Serotonergic neurons of the MR nuclei receive an excitatory input from hypothalamic orexin/hypocretin neurons and reciprocally inhibit orexin/hypocretin neurons through the serotonin 1A receptor (or 5-HT1A receptor). Considering this complex system, if there is an alteration it may facilitate the pathophysiological mechanisms involved in the migraine, while it may produce at the same time an alteration of the sleep–wake rhythm, causing sleep disorders such as sleepwalking. Understanding the complex mechanisms underlying migraine and sleep disorders and how these mechanisms can interact with each other, it would be crucial to pave the way for new therapeutic strategies.

Autism spectrum disorders (ASD) is a complex and multifaceted neurobehavioral syndrome with no specific cause still identified, despite the worldwide increasing (prevalence for 1,000 children from 6.7 to 14.6, between 2000 and 2012). Many biological and instrumental markers have been suggested as potential predictive factors for the precocious diagnosis during infancy and/or pediatric age. Many studies reported structural and functional abnormalities in the autonomic system in subjects with ASD. Sleep problems in ASD are a prominent feature, having an impact on the social interaction of the patient. Considering the role of orexins (A and B) in wake-sleep circadian rhythm, we could speculate that ASD subjects may present a dysregulation in orexinergic neurotransmission. Conversely, oxidative stress is implicated in the pathophysiology of many neurological disorders. Nonetheless, little is known about the linkage between oxidative stress and the occurrence or the progress of autism and autonomic functioning; some markers, such as heart rate (HR), heart rate variability (HRV), body temperature, and galvanic skin response (GSR), may be altered in the patient with this so complex disorder. In the present paper, we analyzed an autism case report, focusing on the rule of the sympathetic activity with the aim to suggest that it may be considered an important tool in ASD evaluation. The results of this case confirm our hypothesis even if further studies needed.

Purpose: The mechanisms involved in the coordination of muscle activity are not completely known: to investigate adaptive changes in human motor cortex Transcranial magnetic stimulation (TMS) was often used. The sport models are frequently used to study how the training may affect the corticospinal system excitability: Karate represents a valuable sport model for this kind of investigations for its high levels of coordination required to athletes. This study was aimed at examining possible changes in the resting motor threshold (rMT) and in the corticospinal response in karate athletes, and at determining whether athletes are characterized by a specific value of rMT. Methods: We recruited 25 right-handed young karate athletes and 25 matched non-athletes. TMS was applied to primary motor cortex (M1). Motor evoked potential (MEP) were recorded by two electrodes placed above the first dorsal interosseous (FDI) muscle. We considered MEP latencies and amplitudes at rMT, 110% of rMT, and 120% of rMT. Results: The two groups were similar for age (p > 0.05), height (p > 0.05) and body mass (p > 0.05). The TMS had a 70-mm figure-of-eight coil and a maximum output of 2.2 T, placed over the left motor cortex. During the stimulation, a mechanical arm kept the coil tangential to the scalp, with the handle at 45° respect to the midline. The SofTaxic navigator system (E.M.S. Italy, www.emsmedical.net) was used in order to correctly identifying and repeating the stimulation for every subject. Compared to non-athletes, athletes showed a lower resting motor threshold (p < 0.001). Furthermore, athletes had a lower MEP latency (p < 0.001) and a higher MEP amplitude (p < 0.001) compared to non-athletes. Moreover, a ROC curve for rMT was found significant (area: 0.907; sensitivity 84%, specificity 76%). Conclusions: As the main finding, the present study showed significant differences in cortical excitability between athletes and non-athletes. The training can improve cortical excitability inducing athletes' modifications, as demonstrated in rMT and MEP values. These finding support the hypothesis that the sport practice determines specific brain organizations in relationship with the sport challenges.

Annalisa Panico,1 Giovanni Messina,2,3 Gelsy Arianna Lupoli,1 Roberta Lupoli,1 Marianna Cacciapuoti,1 Fiorenzo Moscatelli,2 Teresa Esposito,3 Ines Villano,3 Anna Valenzano,2 Vincenzo Monda,3 Antonietta Messina,3 Francesco Precenzano,4 Giuseppe Cibelli,2 Marcellino Monda,3 Giovanni Lupoli1 1Department of Clinical Medicine and Surgery, University of Napoli Federico II, Naples, Italy; 2Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy; 3Department of Experimental Medicine, Second University of Naples, Naples, Italy; 4Department of Mental and Physical Health, and Preventive Medicine, Child and Adolescent Neuropsychiatry Unit, Second University of Naples, Naples, Italy Objective: Polycystic ovary syndrome (PCOS) is characterized by phenotypic heterogeneity and has a wide variety of consequences. Approximately half of women with PCOS are overweight or obese, and their obesity may be a contributing factor to PCOS pathogenesis through different mechanisms. The aim of this study was to evaluate if PCOS alone affects the patients’ quality of life and to what extent obesity contributes to worsen this disease. Design: To evaluate the impact of PCOS on health-related quality-of-life (HRQoL), 100 Mediterranean women with PCOS (group A), 50 with a body mass index (BMI) >25kg/m2 (group A1) and 50 with BMI 25 (A1) showed a significant and more marked reduction in scores, suggesting a lower quality of life, compared with controls (B) and with normal-weight PCOS patients (A2). Conclusion: PCOS is a complex disease that alone determines a deterioration of HRQoL. The innovative use of these psychometric questionnaires in this study, in particular the PCOS questionnaire, has highlighted that obesity has a negative effect on HRQoL. It follows that a weight decrease is associated to phenotypic spectrum improvement and relative decrement in psychological distress. Keywords: polycystic ovary syndrome, obesity, normal-weight, health-related quality-of-life, psychological disturbances

The orexin-A/hypocretin-1 and orexin-B/hypocretin-2 are neuropeptides synthesized by a cluster of neurons in the lateral hypothalamus and perifornical area. Orexin neurons receive a variety of signals related to environmental, physiological and emotional stimuli, and project broadly to the entire CNS. Orexin neurons are “multi-tasking” neurons regulating a set of vital body functions, including sleep/wake states, feeding behavior, energy homeostasis, reward systems, cognition and mood. Furthermore, a dysfunction of orexinergic system may underlie different pathological conditions. A selective loss orexin neurons was found in narcolepsia, supporting the crucial role of orexins in maintaining wakefulness. In animal models, orexin deficiency lead to obesity even if the consume of calories is lower than wildtype counterpart. Reduced physical activity appears the main cause of weight gain in these models resulting in energy imbalance. Orexin signaling promotes obesity resistance via enhanced spontaneous physical activity and energy expenditure regulation and the deficiency/dysfunction in orexins system lead to obesity in animal models despite of lower calories intake than wildtype associated with reduced physical activity. Interestingly, orexinergic neurons show connections to regions involved in cognition and mood regulation, including hippocampus. Orexins enhance hippocampal neurogenesis and improve spatial learning and memory abilities, and mood. Conversely, orexin deficiency results in learning and memory deficits, and depression.

Object Migraine headache prevalence ranges from 1.2 to 3.2% at 7 years of age, increasing with age up to 4-19% in adolescents.1 The aim of the present study is investigating the personality style associated with children and adolescent affected by Migraine without aura (MwA), through administration of the projective Rorschach test and statistical comparison with a group of age- and sex matched healthy controls. Methods 137 patients (74 males and 63 females), aged 7.3–17.4 years (mean age 11.4, SD 3.02 years), affected by MwA according to the IHs-3 criteria. The projective Rorschach test has been administrered to all the cases and controls. Statistical comparisons of groups were performed through comparison of mean values using Student’s t-test for the Rorschach variables treated as numerical variables (R, W%, W+%, D%, F%, F+%, R% l.t., F+% l.t. A%, H%, Anat%, Ban% and Orig%). P-values ,0.05 were considered statistically significant. For statistical analysis, the software STATISTICA (data analysis software system, version 8.1; StatSoft, Inc., 2001) was used. Results No statistical differences were found between the MwA and healthy control group for age (p=0.55), and sex distribution (p=0.804). From the comparison between the two samples MwA group shows lower W responses (p

BackgroundStudies about the impact of developmental dyslexia (DD) on parenting are scarce. Our investigation aimed to assess maternal stress levels and mothers’ copying styles in a population of dyslexic children.MethodsA total of 874 children (500 boys, 374 girls; mean age 8.32 ± 2.33 years) affected by DD was included in the study. A total of 1,421 typically developing children (789 boys, 632 girls; mean age 8.25 ± 3.19 years) were recruited from local schools of participating Italian Regions (Abruzzo, Calabria, Campania, Puglia, Umbria, Sicily) and used as control-children group. All mothers (of both DD and typically developing children) filled out an evaluation for parental stress (Parenting Stress Index—Short Form) and coping strategies [Coping Inventory for Stressful Situations (CISS)].ResultsNo statistical differences for mean age (p = 0.456) and gender (p = 0.577) were found between DD and control children. Mothers of children affected by DD showed an higher rate of all parental stress indexes (Parental Distress domain p

The basal forebrain cholinergic system is considered as a major component of attentive mediator system. It could be activated by different ingoing inputs, and among them the hypothalamus represents an important source of projections and the orexin neurons, whose cell bodies are present in the lateral hypothalamus, highly contribute to these projections. Recently, the orexin-producing neurons have been considered to act in the basal forebrain promoting arousal and attention. Aim of the present review is trying to explain the putative effects of orexin-producing neurons and their projection to the basal forebrain in order to support the hypothesis that orexin system may contribute to attentional processing toward increased cell activity and cortical acetylcholine (Ach) release. Collectively, the available data seem to support this hypothesis: orexins excite cholinergic neurons increasing acetylcholine release in cerebral cortex contributing to cerebral cortical activation and prefrontal cortex associated with executive system. We have reviewed evidence suggesting that the BF may be a key target through which orexin neurons promote attention.

BACKGROUND: Selective mutism (SM) is a rare disease in children coded by DSM-5 as an anxiety disorder. Despite the disabling nature of the disease, there is still no specific treatment. AIM: The aims of this study were to verify the efficacy of six-month standard psychomotor treatment and the positive changes in lifestyle, in a population of children affected by SM. DESIGN: Randomized controlled trial registered in the European Clinical Trials Registry (EuDract 2015-001161-36). SETTING: University third level Centre (Child and Adolescent Neuropsychiatry Clinic). POPULATIO N: Study population was composed by 67 children in group A (psychomotricity treatment) (35 M, mean age 7.84±1.15) and 71 children in group B (behavioral and educational counseling) (37 M, mean age 7.75±1.36). METHODS: Psychomotor treatment was administered by trained child therapists in residential settings three times per week. Each child was treated for the whole period by the same therapist and all the therapists shared the same protocol. The standard psychomotor session length is of 45 minutes. At T0 and after 6 months (T1) of treatments, patients underwent a behavioral and SM severity assessment. To verify the effects of the psychomotor management, the Child Behavior Checklist questionnaire (CBCL) and Selective Mutism Questionnaire (SMQ) were administered to the parents. RESULTS: After 6 months of psychomotor treatment SM children showed a significant reduction among CBCL scores such as in social relations, anxious/depressed, social problems and total problems (P