On 11 March 2020, a national lockdown was imposed by the Italian government to contain the spread of COVID19 disease. This is an observational longitudinal study conducted at Fondazione Stella Maris (FSM), Italy to investigate lockdown-related emotional and behavioural changes in paediatric neuropsychiatric population. Families having children (1.5–18 years) with neuropsychiatric disorders referred to FSM have been contacted and proposed to fulfil two online questionnaires (General questionnaire and Child Behaviour Check List (CBCL)) to (i) compare (paired two-sample t-tests) the CBCL scores during lockdown with previous ones, and (ii) investigate the influence (multiple linear regression models) of variables such as age, diagnosis grouping (neurological, neurodevelopmental, emotional, and behavioural disorders) and financial hardship. One hundred and forty-one parents fulfilled the questionnaires. Anxiety and somatic problems increased in 1.5–5 years subpopulation, while obsessive-compulsive, post-traumatic and thought problems increased in 6–18 years subpopulation. In the regression models, younger age in the 1.5–5 years subpopulation resulted as “protective” while financial hardship experienced by families during lockdown was related to psychiatric symptoms increasing in the 6–18 years subpopulation. Some considerations, based on first clinical impressions, are provided in text together with comments in relation to previous and emerging literature on the topic.

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Mutations in the EPM2A gene encoding laforin cause Lafora disease (LD), a progressive myoclonic epilepsy characterized by drug-resistant seizures and progressive neurological impairment. To date, rodents are the only available models for studying LD; however, their use for drug screening is limited by regulatory restrictions and high breeding costs. To investigate the role of laforin loss of function in early neurodevelopment, and to screen for possible new compounds for treating the disorder, we developed a zebrafish model of LD. Our results showed the epm2a−/− zebrafish to be a faithful model of LD, exhibiting the main disease features, namely motor impairment and neuronal hyperexcitability with spontaneous seizures. The model also showed increased inflammatory response and apoptotic death, as well as an altered autophagy pathway that occurs early in development and likely contributes to the disease progression. Early administration of trehalose was found to be effective for rescuing motor impairment and neuronal hyperexcitability associated with seizures. Our study adds a new tool for investigating LD and might help to identify new treatment opportunities.

The lockdown due to the COVID-19 pandemic has had adverse psychological effects on children and parents. While parenting is essential for positive development, increased parental distress has interfered with children’s wellbeing. In our study, we aimed to identify the predictors of parental distress in families of children with neuropsychiatric disorders during lockdown. Seventy-seven parents of children with neuropsychiatric disorders were asked to fill three online questionnaires (a socio-demographic questionnaire, the Child Behavior Checklist (CBCL) and Parental-Stress-Index (PSI-4-SF) to explore the relationship between parental distress, emotional/behavioral problems in children and quarantine-related factors through univariate analyses and multiple mediation models. Significant positive associations between CBCL-internalizing-problems and all PSI-4-SF subscales, and between CBCL-externalizing-problems and “Difficult Child” subscales were found. “Parent–Child Dysfunctional Interaction” subscale and teachers–child relationship quality resulted negatively associated, as well as the “Difficult Child” subscale and peers–child relationship quality. The effect of teachers–child relationship quality on “Parent–Child Dysfunctional Interaction” was mediated by children internalizing problems, while the effect of peers–child relationship quality on “Difficult Child” by the child internalizing/externalizing problems. Internalizing problems in children with neuropsychiatric disorders were among the strongest predictors of parental stress during lockdown, mediating the indirect effects of quarantine-related factors, thus suggesting the importance of their detection during and after emergency situations to provide assistance and reduce parenting pressure.

Cerebral excitability and systemic metabolic balance are closely interconnected. Energy supply to neurons depends critically on glucose, whose fluctuations can promote immediate hyperexcitability resulting in acute symptomatic seizures. On the other hand, chronic disorders of sugar metabolism (e.g., diabetes mellitus) are often associated with long-term epilepsy. In this paper, we aim to review the existing knowledge on the association between acute and chronic glycaemic imbalances (hyper- and hypoglycaemia) with seizures and epilepsy, especially in the developing brain, focusing on clinical and instrumental features in order to optimize the care of children and adolescents and prevent the development of chronic neurological conditions in young patients.

Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. On the basis of the current clinical case and the literature review, we also attempt to deepen understanding of behavioural and psychiatric manifestations associated with XGS. Results: In addition to the patient we described, a considerable rate of individuals with XGS display autistic symptoms or have been diagnosed with an autistic spectrum disorder. Moreover, the analysis of the few psychopathological profiles of patients with XGS described in the literature shows a frequent presence of aggressive and self-injurious behaviours that could be either an expression of autistic functioning or an additional symptom of the ASD evolution. A careful investigation of the abovementioned symptoms is therefore required, since they could represent a “red flag” for ASD.

Unfortunately, the given name and family name of the first author was incorrectly tagged in the xml data, therefore it is abbreviated wrongly in Pubmed. The correct given name is Stefania and family name is Della Vecchia.

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