Search

The impact of technology on human life is significant, touching various aspects such as communication, economy, education, medicine, industry, and even ecosystems [...]

Developmental and epileptic encephalopathies (DEE) are severe neurodevelopmental disorders characterized by recurrent, usually early-onset, epileptic seizures accompanied by developmental impairment often related to both underlying genetic etiology and abnormal epileptiform activity. Today, next-generation sequencing technologies (NGS) allow us to sequence large portions of DNA quickly and with low costs. The aim of this study is to evaluate the use of whole-exome sequencing (WES) as a first-line molecular genetic test in a sample of subjects with DEEs characterized by early-onset drug-resistant epilepsies, associated with global developmental delay and/or intellectual disability (ID). We performed 82 WESs, identifying 35 pathogenic variants with a detection rate of 43%. The identified variants were highlighted on 29 different genes including, 3 new candidate genes (KCNC2, STXBP6, DHRS9) for DEEs never identified before. In total, 23 out of 35 (66%) de novo variants were identified. The most frequently identified type of inheritance was autosomal dominant de novo (60%) followed by autosomal recessive in homozygosity (17%) and heterozygosity (11%), autosomal dominant inherited from parental mosaicism (6%) and X-linked dominant de novo (6%). The most frequent mutations identified were missense (75%) followed by frameshift deletions (16%), frameshift duplications (5%), and splicing mutations (3%). Considering the results obtained in the present study we support the use of WES as a form of first-line molecular genetic testing in DEEs.

Vegetarianism can meet healthy, ethical, or ecological values (such as equality and protection of animals or the environment). At the same time, it can represent a response to the need for self-determination in adolescence. Furthermore, some studies show vegetarians have greater depressive risk and a lower sense of body satisfaction. Considering the spread of non-meat diets in the Western world, researchers have investigated the benefits and risks to physical and psychological health. Despite this, few studies have been conducted on factors influencing adolescent’s vegetarian diet-related attitudes. Through self-administered loosely structured interviews, this research investigated factors potentially associated with vegetarian choices in adolescence. It checked (a) gender differences in vegetarian choices; (b) religious, familial, ethical, or health factors implied in vegetarian choices; and (c) indicators of well-being among young vegetarians. The findings suggest that for our sample, non-vegetarians have lower scores on health-related questions than others, while for vegetarian adolescents, the benefits of vegetarianism mainly depend on their ethical stances, beliefs, and values. Conversely, it is unrelated to factors such as the desire to lose weight, dissatisfaction about one’s body shape, or depressive feelings.

Syntaxin-binding protein 6 (STXBP6), also known as amysin, is an essential component of the SNAP receptor (SNARE) complex and plays a crucial role in neuronal vesicle trafficking. Mutations in genes encoding SNARE proteins are often associated with a broad spectrum of neurological conditions defined as “SNAREopathies”, including epilepsy, intellectual disability, and neurodevelopmental disorders such as autism spectrum disorders. The present whole exome sequencing (WES) study describes, for the first time, the occurrence of developmental epileptic encephalopathy and autism spectrum disorders as a result of a de novo deletion within the STXBP6 gene. The truncated protein in the STXBP6 gene leading to a premature stop codon could negatively modulate the synaptic vesicles’ exocytosis. Our research aimed to elucidate a plausible, robust correlation between STXBP6 gene deletion and the manifestation of developmental epileptic encephalopathy.

The epidemic spread of childhood obesity in Western society has interested many researchers, who agree in defining it as a multifactorial disease in which not only eating habits and sedentary lifestyle play a role, but also genetic predisposition. The aim of this study was to analyze the personality profile of a group of mothers of children with obesity and to compare this profile to that of a group of mothers of children without obesity. A total of 258 mothers participated in the study (126 mothers of children with obesity and 132 mothers of children without obesity). Weight and height were measured and the body mass index was calculated. The Minnesota Multiphasic Personality Inventory second edition (MMPI-2), evaluating personality and psychological disorders, was used to evaluate the personality profile. The results suggested that mothers of children with obesity score higher than the mothers of children without obesity in all MMPI-2 subscales. In most of these subscales, the differences between the two groups of mothers were statistically significant and with a medium to high effect size. These data suggest a new perspective on childhood obesity, identifying it as a multifactorial pathology that requires a multimodal and multidisciplinary approach that also takes care of caregivers to ensure optimal therapeutic efficacy.

Abstract Background The AHNAK2 gene encodes a large nucleoprotein expressed in several tissues, including brain, squamous epithelia, smooth muscle, and neuropil. Its role in calcium signaling has been suggested and to date, clear evidence about its involvement in the pathogenesis of clinical disorders is still lacking. Methods Here, we report a female 24‐year‐old patient diagnosed with a cardio‐facio‐cutaneous‐like phenotype (CFC‐like), characterized by epilepsy, psychomotor development delay, atopic dermatitis, congenital heart disease, hypotonia, and facial dysmorphism, who is compound heterozygote for two missense mutations in the AHNAK2 gene detected by exome sequencing. Results This patient had no detectable variant in any of the genes known to be associated with the cardio‐facio‐cutaneous syndrome. Moreover, the mode of inheritance does not appear to be autosomal dominant, as it is in typical CFC syndrome. We have performed in silico assessment of mutation severity separately for each missense mutation, but this analysis excludes a severe effect on protein function. Protein structure predictions indicate the mutations are located in flexible regions possibly involved in molecular interactions. Conclusion We discuss an alternative interpretation on the potential involvement of the two missense mutations in the AHNAK2 gene on the expression of CFC‐like phenotype in this patient based on inter‐allelic complementation.

Background and Objectives: Specific Learning Disorder (SLD) is a complex neurobiological disorder characterized by a persistent difficult in reading (dyslexia), written expression (dysgraphia), and mathematics (dyscalculia). The hereditary and genetic component is one of the underlying causes of SLD, but the relationship between genes and the environment should be considered. Several genetic studies were performed in different populations to identify causative genes. Materials and Methods: Here, we show the analysis of 9 multiplex families with at least 2 individuals diagnosed with SLD per family, with a total of 37 persons, 21 of whom are young subjects with SLD, by means of Next-Generation Sequencing (NGS) to identify possible causative mutations in a panel of 15 candidate genes: CCPG1, CYP19A1, DCDC2, DGKI, DIP2A, DYM, GCFC2, KIAA0319, MC5R, MRPL19, NEDD4L, PCNT, PRMT2, ROBO1, and S100B. Results: We detected, in eight families out nine, SNP variants in the DGKI, DIP2A, KIAA0319, and PCNT genes, even if in silico analysis did not show any causative effect on this behavioral condition. In all cases, the mutation was transmitted by one of the two parents, thus excluding the case of de novo mutation. Moreover, the parent carrying the allelic variant transmitted to the children, in six out of seven families, reports language difficulties. Conclusions: Although the present results cannot be considered conclusive due to the limited sample size, the identification of genetic variants in the above genes can provide input for further research on the same, as well as on other genes/mutations, to better understand the genetic basis of this disorder, and from this perspective, to better understand also the neuropsychological and social aspects connected to this disorder, which affects an increasing number of young people.

Evidence suggests that adolescents respond positively to simple, early interventions, including psychosocial support and educational interventions, even when offered in non-clinical settings. Cinematherapy can help manage life challenges, develop new skills, increase awareness, and offer new ways of thinking about specific problems. This pilot trial was conducted in Italy, aiming to investigate the effects of a six-week filmmaking course on the psychological well-being of adolescents (N = 52) with emotional/behavioural problems and neurodevelopmental disorders. At the end of the project, most participants showed improvements mostly in social skills, such as social cognition (p = 0.049), communication (p = 0.009), and motivation (p = 0.03), detected using the SRS Social Responsiveness Scale. In addition, social awareness (p = 0.001) increased in all patients. Statistically significant differences resulted in four sub-scales of Youth Self-Report Scale: withdrawn/depressed (p = 0.007), social problems (p = 0.003), thought problems (p < 0.001), and rule-breaking behaviour (p = 0.03); these results showed a decrease in emotional and behavioural problems. This study is an innovative therapeutic and educational approach based on the filmmaking art. This research can offer an empirical basis for the effectiveness of alternative therapeutic tools in child and adolescent psychiatric disorders. At the same time, it can be replicated in broader contexts (e.g., school and communities) to promote children’s psychological well-being.

ObjectivesThe aim of our study was to evaluate the effectiveness and tolerability of perampanel (PER) as first add-on and as second line monotherapy in subjects with childhood absence epilepsy.MethodsOur sample consisted of 20 patients with childhood absence epilepsy, aged between 8 and 10, already in therapy with a first antiseizure medication with incomplete seizure control. PER was added as first add-on in a dose ranging from 3 to 8 mg/die with 1- 2 mg/week increments. The patients that were seizure-free were shifted to a PER monotherapy. All patients underwent a standardized neuropsychological evaluation in order to assess non-verbal intelligence and executive functions before adding PER and after 6 months of drug therapy. All parents completed two questionnaires, in order to assess the emotional-behavioral problems and parental stress.Results15/20 patients responded to add-on PER and were seizure-free, in 3/20 patients we observed a reduction of seizure frequency

The present study tested the effect of priming the concept of prosociality on the bystander effect in an online environment. Participants were sent an e-mail requesting a plea for help and randomly assigned to one of four conditions in a 2 (Bystander: 0 vs. 14) × 2 (Priming: present vs. absent) design. The results demonstrated support for the study hypothesis. As expected, the virtual presence of many others significantly reduced e-mail responsiveness except when the request for help is preceded by prosocial priming. Implications of these findings for the literature on the bystander effect and priming are discussed.

Background: Poor academic performance of students with epilepsy seems to be a multifactorial problem related to difficulties in reading, writing, math, and logic skills. Poor school and academic performances refer to learning problems in a specific academic area due to learning disorders and learning difficulties not excluding the ability to learn in a different manner during school and academic life. Sometimes, school, academic difficulties, and Rolandic epilepsy can coexist together, and there may be comorbidities. Consequently, the risk of impaired academic performance in people with epilepsy is high. Methods: This review analyzed the relationship between Benign Epilepsy with Centro-Temporal Spikes (BECTS) and poor school and academic performance (PSAP) in children and adolescents (aged 6 to 19), and in adults (aged 20 to no age limit). The PRISMA guideline was used to guide our review strategy. Results: This research shows that Benign Epilepsy with Centro-Temporal Spikes (BECTS) and poor school and academic performances are strongly correlated. An early onset age, as well as a long persistence of seizures, correlate more closely with PSAP. On the other hand, it appears that good pharmacological control of seizures and remission from the acute phase of the pathology support better school performance. Conclusions: This review highlights how neuropsychological aspects are also involved in patients with BECTS and PSAP, both in the greater predisposition to the establishment of other neuropsychiatric conditions and in the possibility that stigma conditions and poor academic results may have repercussions on the adaptation and functioning of these subjects. Global management of the subject with BECTS and PSAP is essential, which also pays attention to the aspects of social and scholastic inclusion, both to achieve age-appropriate educational and behavioral objectives, to give the necessary tools for the growth of the individual, and to allow a serene transition to adulthood, favoring autonomous learning and better outcomes.

Epilepsy is one of the most widespread chronic conditions, affecting about 50 million people worldwide [...]

Background: Phenylketonuria (PKU) is a rare congenital disorder caused by decreased metabolism of phenylalanine determining cerebral impairments. If untreated, PKU might lead to intellectual disability, seizures and behavioral disorders. The aim of this study is to provide a characterization of the psychopathological profile of a pediatric population diagnosed with PKU at newborn screening. Methods: an accurate neuropsychological evaluation of 23 patients (aged 8–18 years) with hyperphenylalaninemia (defined as experimental group, EG) and in 23 age-matched healthy controls (defined as control group, CG) was performed using the Child and Adolescent Behavior Inventory (CABI) and Self-Administrated Psychiatric Scales for Children and Adolescents (SAFA) questionnaires. Results: the CABI test showed significant differences for the sub-scales related to “Irritable mood”, “Oppositional-provocative symptoms” and “ADHD” in the EG compared to CG (p = 0.014, p = 0.032, and p = 0.032, respectively). Patients with hyperphenylalaninemia also presented with significant differences both for anxiety disorder scale and depression scale of SAFA test than controls (p = 0.018 and p = 0.009, respectively). Conclusions: children and adolescents with early diagnosis of PKU showed a psychopathological risk profile characterized by an increased risk of experiencing symptoms such as mood deflection, anxiety, attention deficit, oppositional defiant behavior, and obsessive traits than healthy peers. Our findings highlighted the need of the inclusion of a neuropsychiatric evaluation in the management of these patients to improve their overall quality of life.

The cerebellum plays a critical regulatory role in motor coordination, cognition, behavior, language, memory, and learning, hence overseeing a multiplicity of functions. Cerebellar development begins during early embryonic development, lasting until the first postnatal years. Particularly, the greatest increase of its volume occurs during the third trimester of pregnancy, which represents a critical period for cerebellar maturation. Preterm birth and all the related prenatal and perinatal contingencies may determine both dysmaturative and lesional events, potentially involving the developing cerebellum, and contributing to the constellation of the neuropsychiatric outcomes with several implications in setting-up clinical follow-up and early intervention.

The cerebellum and its functional multiplicity and heterogeneity have been objects of curiosity and interest since ancient times, giving rise to the urge to reveal its complexity. Since the first hypothesis of cerebellar mere role in motor tuning and coordination, much more has been continuously discovered about the cerebellum’s circuitry and functioning throughout centuries, leading to the currently accepted knowledge of its prominent involvement in cognitive, social, and behavioral areas. Particularly in childhood, the cerebellum may subserve several age-dependent functions, which might be compromised in several Central Nervous System pathologies. Overall, cerebellar damage may produce numerous signs and symptoms and determine a wide variety of neuropsychiatric impairments already during the evolutive age. Therefore, an early assessment in children would be desirable to address a prompt diagnosis and a proper intervention since the first months of life. Here we provide an overview of the cerebellum, retracing its morphology, histogenesis, and physiological functions, and finally outlining its involvement in typical and atypical development and the age-dependent patterns of cerebellar dysfunctions.

Introduction: The purpose of our study was to perform a comparative analysis of social cognition in children and adolescents with epilepsy, autism spectrum disorder (ASD), specific learning disorder (SLD) and in typical development (TD) controls. The secondary aim was to relate social cognition to some clinical and demographic characteristics.Methods: Our work is a transversal observational study. The recruits were 179 children and adolescents aged between 6 and 18 years diagnosed with epilepsy, ASD, or SLD and 32 subjects with TD. All the participants underwent neuropsychological assessment of Emotion Recognition (ER) and Theory of Mind (ToM) skills.Results: All three clinical groups performed significantly worse than controls in ER and ToM. The ASD group achieved significantly lower performance than the other groups; however, the scores of SLD and epilepsy groups were comparable. The ER performances are related to non-verbal intelligence only in the group with epilepsy.Conclusion: Children and adolescents with focal epilepsy, SLD, or ASD may present a deficit of varying extent in emotion recognition and ToM, compared with TD peers. These difficulties are more pronounced in individuals with ASD, but impairment worthy of clinical attention also emerges in individuals with SLD and epilepsy.

Research on the effects of guilt on interpersonal relationships has shown that guilt frequently motivates prosocial behavior in dyadic social situations. When multiple persons are involved, however, this emotion can be disadvantageous for other people in the social environment. Two experiments were carried out to examine the effect of guilt and empathy on prosocial behavior in a context in which more than two people are involved. Experiment 1 investigates whether, in three-person situations, guilt motivates prosocial behavior with beneficial effects for the victim of one’s actions but disadvantageous effects for the third individual. Participants were faced with a social dilemma in which they could choose to take action that would benefit themselves, the victim, or the other individual. The findings show that guilt produces disadvantageous side effects for the third individual person present without negatively affecting the transgressor’s interest. In Experiment 2, participants were faced with a social dilemma in which they could act to benefit themselves, the victim, or a third person for whom they were induced to feel empathic concern. Again, the results show that guilt generates advantages for the victim but, in this case, at the expense of the transgressor and not at the expense of the third person, for whom they were induced to feel empathic concern. Therefore, guilt and empathy seem to limit the transgressor’s interest. The theoretical implications are discussed.

Neurological and psychiatric disorders during developmental ages affect an increasing share of the pediatric population, both due to the increased understanding and attention paid to these issues and due to increased risk factors [...]

Purpose: The importance of dental care and oral hygiene is often underestimated in people with autism spectrum disorder (ASD). Comorbidity with dental anxiety is greater in ASD subjects who also show unusual reactions to sensory stimuli. The aim of our study was to assess the efficacy for a sensory-adapted environment and targeted methods in reducing anxiety and positively influencing cooperation in children with ASD during a dental examination or specific treatments. Material and methods: The sample consisted of 50 Italian children with a diagnosis of ASD (36 males and 14 females; aged 9–10 years) presenting with mild intellectual disability (ID) and verbal language skills. The subjects enrolled in the study had at least two decayed teeth and all were treated in two different dental environments: regular dental environment (RDE) and sensory-adapted dental environment (SADE). Results: 20% of the sample was successfully treated in RDE, while 68% of subjects were successfully treated in SADE. Conclusions: Results suggest that a sensory-adapted environment positively affects the therapeutic dental treatment in patients with ASD and reaffirm that sensory dysregulation in children with ASD is a crucial factor influencing the successful outcome of oral care.

History of the reading disorder not due to an intellectual disability, inadequate teaching systems or poor motivation to study, referred to as developmental dyslexia, has very remote origins. The first attempts explain the disorder as a primary ‘visual defect’. Since then, several models have been developed until autopsy and histo-pathological studies on the brains of developmental dyslexics provided neuroanatomical evidence on the structural and morphologic differences between normal and dyslexic brains. In addition, the new neuroimaging technologies have allowed to understand the neural systems of reading and dyslexia. According to recent studies, developmental dyslexia appears as a neurodevelopmental multicomponent language-related disorder with a deficit in phonological decoding and in visuospatial organization of linguistic code. As a result, rehabilitation must be focused on the recovery of language and visuo-spatial and attentional processes underlying the complex and multi-component developmental dyslexia. This brief overview should be a valid tool for a deeper understanding of the dyslexic disorder. Literature searches in Medline, PsycINFO, EMBASE, Scopus, PubMed, Web of Science identified one hundred articles focusing attention on how this disorder has been considered over the years.

During the outbreak of COVID-19 in Italy, people often failed to adopt behaviors that could have stopped, or at least slowed down, the spread of this deadly disease. We offer cognitive explanations for these decisions, based on some of the most common heuristics and biases that are known to influence human judgment and decision-making, especially under conditions of high uncertainty. Our analysis concludes with the following recommendations: policymakers can and should take advantage of this established science, in order to communicate more effectively and increase the likelihood that people choose responsible actions in a public health crisis.

Clotiapine is an atypical antipsychotic indicated for the management of a series of acute psychotic disorders. The current literature lacks evidence concerning the tolerability and clinical use of this drug in the management of individuals with anorexia nervosa (AN). In this study, we report two cases of adolescents with AN, treated with clotiapine. The reason for the administration of clotiapine was, for both patients, the manifestation of bizarre delusions concerning food and calories. Patient 1 presented a presyncope after the first dose of clotiapine, and treatment was rapidly discontinued. Patient 2 was treated with clotiapine for 9 months; doses were titrated from 20 mg/day to 70 mg/day, with an improvement in the reported delusions, which also enhanced compliance with psychological and nutritional interventions. EKG, QTc, white blood count, and red blood count were not relevantly influenced by the introduction of clotiapine in either patient. No extrapyramidal effect was documented. These reports stress the need for further studies assessing the tolerability and potential effect of clotiapine in treating adolescents with AN and delusional symptomatology.

Neurodevelopmental disorders are a group of neuropsychiatric diseases that affect the developing brain due to a complex interaction between genetic and environmental factors [...]

The COVID-19 pandemic has upset everyone’s normal daily activities, generating psychiatric disorders and changing consumers’ preferences. Among others, the agri-food sector has experienced strong changes and, during the lockdown period, Italian consumers modified their purchasing habits in response to the fear and uncertainty generated by the spread of the virus. In order to find out the main consequences of the shock suffered during the period and to understand which factors have affected purchasing choices, an online survey was conducted on 286 Italian consumers. The results show that ethnocentrism has been the factor that most has influenced consumers’ behavior during the lockdown period and that consumers will continue to prefer national agri-food products when pandemic will be over, constituting a deep change to future eating habits.

Background: Autism Spectrum Disorder (ASD) is characterized by impairments in social interaction and reciprocal communication. ASD affects about 1% of the general population and is associated with substantial disability and economic loss. A variety of approaches to improve the core deficits and lives of people with ASD have been developed, including behavioral, developmental, educational, and medical interventions. The main objective of this study was to evaluate the efficacy of a neuro-psychomotor approach in children affected by ASD. Methods: The sample consisted of 84 children (66 males, mean age 56.9 ± 15.8 months) affected by ASD assessed between September 2020 to March 2021. The trained therapist was asked to complete the ASD behavior inventory (ASDBI) test at baseline (T0) (September 2020) and after six months (T1) (March 2021) to assess the child’s evolution over the observational period. The study was carried out in southern Italy (Campania Region). Results: ASD children showed a significant improvement for AUTISM composite after 6 months of neuro-psychomotor treatment (T1) compared to baseline (65.4 ± 12.2 vs. 75.8 ± 11.5, p < 0.0001). In particular, significant changes were observed for such domains as the problems of excitability (ECCIT), aggression (AGG), behaviors in social relations (RELSOC), expressive (all p < 0.001), sense/perceptual contact modes (SENS) (p = 0.0007), ritualisms/resistance to changes (RIT) (p = 0.0002), pragmatic/social problems (PPSOC) (p = 0.0009), specific fears (FEARS) (p = 0.01), and learning and memory (AMLR) (p = 0.0007). No differences for the domains Semantic/pragmatic problems (PPSEM) and language (LESP) were found. Conclusions: Our preliminary results suggest the usefulness of the neuro-psychomotor treatment in children with ASD. Although promising, these findings need to be tested further to better understand the long-term effects of this specific type of approach.

The International Classification of Headache Disorders, 3rd edition (ICHD3) defines Short-lasting Unilateral Neuralgiform Headache Attacks (SUNHA) as attacks of moderate or severe, strictly unilateral head pain lasting from seconds to minutes, occurring at least once a day and usually associated with prominent lacrimation and redness of the ipsilateral eye. Two subtypes of SUNHA are identified: Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing (SUNCT) and Short-lasting Unilateral Neuralgiform headache attacks with cranial Autonomic symptoms (SUNA). These pathologies are infrequent in children and difficult to diagnose. The authors reviewed the existing literature on SUNCT and SUNA, especially in the developmental age, which describes the pathophysiology in detail and focuses on the therapeutic options available to date. SUNHA-type headaches must be considered on the one hand, for the possibility of the onset of forms secondary to underlying pathologies even of a neoplastic nature, and on the other hand, for the negative impact they can have on an individual’s quality of life, particularly in young patients. Until now, published cases suggest that no chronic variants occur in childhood and adolescents. In light of this evidence, the authors offer a review that may serve as a source to be drawn upon in the implementation of suitable treatments in children and adolescents suffering from these headaches, focusing on therapies that are non-invasive and as risk-free as possible for pediatric patients.

Prader–Willi syndrome (PWS) is a rare disease determined by the loss of the paternal copy of the 15q11-q13 region, and it is characterized by hypotonia, hyperphagia, obesity, short stature, hypogonadism, craniofacial dysmorphisms, and cognitive and behavioral disturbances. The aims of this retrospective study were to analyze interictal EEG findings in a group of PWS patients and to correlate them with genetic, clinical, and neuroimaging data. The demographic, clinical, genetic, EEG, and neuroimaging data of seventy-four patients were collected. Associations among the presence of paroxysmal EEG abnormalities, genotype, and clinical and neuroimaging features were investigated. Four patients (5.4%) presented drug-sensitive epilepsy. Interictal paroxysmal EEG abnormalities—focal or multifocal—were present in 25.7% of the cases, and the normalization of the EEG occurred in about 25% of the cases. In 63.2% of the cases, the paroxysmal abnormalities were bilaterally localized over the middle–posterior regions. Brain magnetic resonance imaging (MRI) was performed on 39 patients (abnormal in 59%). No relevant associations were found between paroxysmal EEG abnormalities and all of the other variables considered. Interictal paroxysmal EEG abnormalities—in particular, with a bilateral middle–posterior localization—could represent an important neurological feature of PWS that is not associated with genotype, cognitive or behavioral endophenotypes, MRI anomalies, or prognosis.

We report the second case, to the best of our knowledge, of a mother with Prader–Willi syndrome (PWS) who gave birth to a daughter with Angelman syndrome (AS). The menarche occurred when she was 16, and the following menstrual cycles were irregular, but she never took sexual hormone replacement therapy. At the age of 26, our patient with PWS became pregnant. The diagnosis was confirmed by molecular genetic testing that revealed a ~5.7 Mb deletion in the 15q11.1–15q13 region on the paternal allele in the mother with PWS and the maternal one in the daughter with AS, respectively. Both the mother with PWS and the daughter with AS showed peculiar clinical and genetic features of the two syndromes. Our case report reaffirms the possible fertility in PWS; therefore, it is very important to develop appropriate socio-sexual education programs and fertility assessments in order to guarantee the expression of a healthy sexuality.

Some studies show that the diagnosis of Autism Spectrum Disorder could be considered reliable and stable in children aged 18 to 24 months. Nevertheless, the diagnostic stability of early ASD diagnosis has not yet been fully demonstrated. This observational study examines the one-year diagnostic stability of autism spectrum disorder diagnosis in a clinical sample of 147 children diagnosed between 18 and 48 months of age. The ADOS-2 scores were used in order to stratify children in three levels of symptom severity: Autism (AD; comparison score 5–7), Autism Spectrum Disorder (ASD; comparison score 3–4), and Sub-Threshold Symptoms; (STS; comparison score 1–2). Results: Overall, the largest part of children and toddlers diagnosed with autism spectrum disorder between 18 and 48 months continued to show autistic symptoms at one-year follow-up evaluation. Nevertheless, a significant percentage of children with higher ADOS severity scores exhibited a reduction of symptom severity and, therefore, moved towards a milder severity class one year later. Conversely, the number of subjects of the STS group meaningfully increased. Therefore, at one-year follow-up a statistically significant (χ2(2) = 181.46, p < 0.0001) percentage of subjects (25.2% of the total) who had received a categorical diagnosis of Autistic Disorder or Autism Spectrum Disorder in baseline no longer met the criteria for a categorical diagnosis. Furthermore, children who no longer met the criteria for autism spectrum disorder continue to show delays in one or more neurodevelopmental areas, possibly related to the emergence of other neurodevelopmental/neuropsychiatric disorders. Overall, the comprehensive results of the study account for a high sensibility but a moderate stability of ASD early diagnosis.

In recent years, there has been a renewed attention to lifestyle-based interventions in people with autism spectrum disorder. The positive effects of physical exercise programs have been well documented both in healthy people and in people with disabilities in the fields of psychological well-being, cognitive outcome and medical health. There is much less evidence about the opportunity to attempt a team-group sport for people with autism. Although researchers seem to suggest an overall positive effect, playing team sports for people with autism spectrum disorder (ASD) means dealing with difficulties in social interactions and limitations in motor functions. This narrative review aims to report studies about the effects, improvements and difficulties that people with autism have to face when they play the world’s most popular team sport: soccer.

Background and Objectives: Siblings of disabled children are more at risk of developing mental illnesses. More than 50 international studies show that about 8% of children and adolescents suffer from a mental disorder, which is almost always a source of difficulties both at the interpersonal level (in the family and with peers) and at school. Healthy siblings of children with disabilities are one of the groups most at risk for consequences in psychological health and well-being. As some authors suggest, siblings build their idea of “being people”, in terms of character and personality, by continuously and daily confronting themselves with the theme of disability and a family context subjected to continuous stress. The following contribution aims to compare emotional–behavioral disorders in healthy siblings of children with autism spectrum disorder, in healthy siblings of children with Down’s syndrome and in healthy siblings of children with typical development. Materials and Methods: The results involve 153 children from the region of Campania and their caregivers through the administration of the Strength and Difficulties Questionnaire. Results: From the data, it emerged that siblings of children with autism spectrum disorder and siblings of children with Down’s syndrome have a greater emotional fragility, especially among male subjects. Conclusions: Our results require us to reflect on the clinical and policy measures needed to ensure the well-being of siblings of disabled children, mainly through appropriate sibling coping training.

Autism spectrum disorder is characterized by neurological, psychiatric and medical comorbidities—some conditions co-occur so frequently that comorbidity in autism is the rule rather than the exception. The most common autism co-occurring conditions are intellectual disability, language disorders, attention-deficit hyperactivity disorder, epilepsy, gastrointestinal problems, sleep disorders, anxiety, depression, obsessive-compulsive disorder, psychotic disorders, oppositional defiant disorder, and eating disorders. They are well known and studied. Migraine is the most common brain disease in the world, but surprisingly only a few studies investigate the comorbidity between autism and migraine. The aim of this narrative review is to explore the literature reports about the comorbidity between autism and migraine and to investigate the common neurotransmitter, immune, anatomical and genetic abnormalities at the base of these two conditions.

Background: Over the past decade, the use of digital tools has grown and research evidence suggests that traditional media and new media offer both benefits and health risks for young children. The abilities to understand and use language represent two of the most important competencies developed during the first 3 years of life through the interaction of the child with people, objects, events, and other environmental factors. The main goal of our study is to evaluate the relationship between digital devices use and language abilities in children between 8 and 36 month, also considering the influence of several factors. Materials and Methods: We conducted a cross-sectional observational study on digital devices use and language abilities in260 children (140 males = 54%) aged between 8 and 36 months (mean = 23.5 ± 7.18 months). All the parents completed a self-report questionnaire investigating the use of digital devices by their children, and a standardized questionnaire for the assessment of language skills (MacArthur-Bates). Linear regression analysis was used to evaluate the relation between different variables. Subsequent moderation analysis were performed to verify the influence of other factors. Results: We found a statistically significant negative relation between the total daily time of exposure to digital devices and the Actions and Gestures Quotient (ß = −0.397) in children between 8 and 17 months, and between the total daily time of exposure to digital devices and Lexical Quotient (ß = −0.224) in children between 18 and 36 months. Gender, level of education/job of parents, modality of use/content of digital device did not significantly affect the result of the regression analysis. Conclusion: In our study we found that a longer time of exposure to digital devices was related to lower mimic-gestural skills in children from 8–17 months and to lower language skills in children between 18 and 36 months, regardless of age, gender, socio-economic status, content, and modality of use. Further studies are needed to confirm and better understand this relation, but parents and pediatricians are advised to limit the use of digital devices by children and encourage the social interaction to support the learning of language and communication skills in this age group.

The DHRS9 gene is involved in several pathways including the synthesis of allopregnanolone from progesterone. Allopregnanolone is a positive modulator of gamma aminobutyric acid (GABA) action and plays a role in the control of neuronal excitability and seizures. Whole-exome sequencing performed on a girl with an early onset epilepsy revealed that she was a compound heterozygote for two novel missense mutations of the DHRS9 gene likely to disrupt protein function. No previous studies have reported the implication of this gene in epilepsy. We discuss a new potential pathogenic mechanism underlying epilepsy in a child, due to a defective progesterone pathway.

A large body of literature reports the higher prevalence of epilepsy in subjects with Autism Spectrum Disorder (ASD) compared to the general population. Similarly, several studies report an increased rate of Subclinical Electroencephalographic Abnormalities (SEAs) in seizure-free patients with ASD rather than healthy controls, although with varying percentages. SEAs include both several epileptiform discharges and different non-epileptiform electroencephalographic abnormalities. They are more frequently associated with lower intellectual functioning, more serious dysfunctional behaviors, and they are often sign of severer forms of autism. However, SEAs clinical implications remain controversial, and they could represent an epiphenomenon of the neurochemical alterations of autism etiology. This paper provides an overview of the major research findings with two main purposes: to better delineate the state-of-the-art about EEG abnormalities in ASD and to find evidence for or against appropriateness of SEAs pharmacological treatment in ASD.

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. 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). 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 < 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 < 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. Conclusion: 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.

An Italian family with familial hemiplegic migraine (FHM) with the absence of mutations in the known genes associated with this disorder, namely ATP1A2, ATP1A3, CACNA1A, and SCN1A, has recently been reported. Soon afterward, whole exome sequencing allowed the identification of the carrier status of a heterozygous ATP1A4 mutation c.1798 C >T, in four affected members of this family. Here we compare the clinical symptoms of the affected family members with those from the other FHM families linked to mutations in the known genes associated with this disorder. A further two-year follow-up, including clinical response to carbamazepine administered to the proband and the maternal grandmother due to a worsening of the migraine symptoms, is reported. The clinical condition of the proband’s brother, carrying the same mutation and suffering from congenital ventricular and supraventricular extrasystoles, isdiscussed as well.

Autism spectrum disorder (ASD) refers to complex neurobehavioral and neurodevelopmental conditions characterized by impaired social interaction and communication, restricted and repetitive patterns of behavior or interests, and altered sensory processing. Environmental, immunological, genetic, and epigenetic factors are implicated in the pathophysiology of autism and provoke the occurrence of neuroanatomical and neurochemical events relatively early in the development of the central nervous system. Many neurochemical pathways are involved in determining ASD; however, how these complex networks interact and cause the onset of the core symptoms of autism remains unclear. Further studies on neurochemical alterations in autism are necessary to clarify the early neurodevelopmental variations behind the enormous heterogeneity of autism spectrum disorder, and therefore lead to new approaches for the treatment and prevention of autism. In this review, we aim to delineate the state-of-the-art main research findings about the neurochemical alterations in autism etiology, and focuses on gamma aminobutyric acid (GABA) and glutamate, serotonin, dopamine, N-acetyl aspartate, oxytocin and arginine-vasopressin, melatonin, vitamin D, orexin, endogenous opioids, and acetylcholine. We also aim to suggest a possible related therapeutic approach that could improve the quality of ASD interventions. Over one hundred references were collected through electronic database searching in Medline and EMBASE (Ovid), Scopus (Elsevier), ERIC (Proquest), PubMed, and the Web of Science (ISI).

Functional non-retentive fecal incontinence (FNRFI) is a common problem in pediatric age. FNRFI is defined as unintended loss of stool in a 4-year-old or older child after organic causes have been excluded. FNRFI tends to affects up to 3% of children older than 4 years, with males being affected more frequently than females. Clinically, children affected by FNRFI have normal intestinal movements and stool consistency. Literature data show that children with fecal incontinence have increased levels of separation anxiety, specific phobias, general anxiety, attention-deficit/hyperactivity disorder (ADHD), and oppositional defiant disorder. In terms of possible relationship between incontinence and sleep, disorders of sleep organization have been observed in the pathogenesis of enuresis so generating the hypothesis that the orexinergic system may have a crucial role not only for the sleep organization per se but also for the sphincterial control in general. This study aimed to focus on specific neurophysiological aspects to investigate on the possible relationship between sleep organizational abnormalities and FNRFI. Specifically, we aimed to measure orexin serum levels in children with FNRFI and assess their polysomnographic sleep macrostructure patterns. Two study groups were considered: FNFRI (n = 45) and typically developed (TD) (n = 45) group. In both groups, sleep patterns and respiratory events were assessed by polysomnographic recordings (PSG) during a period of two nights at least, and plasma levels of Orexin-A were measured in each participant. The findings of this initial investigation seem to support a major role of Orexin-A in sleep organization alterations in children with FNFRI. Also, our data suggest that sleep habits evaluation should be considered as screening and complementary tool for the diagnosis of fecal incontinence in children.