De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype.

The SLC25A22 (Solute Carrier Family 25, Member 22) gene encodes for a mitochondrial glutamate/H+ symporter and is involved in the mitochondrial transport of metabolites across the mitochondrial membrane. We hereby report a 12-year-old girl presenting with early-onset epileptic encephalopathy, hypotonia, and global developmental delay. Whole exome sequencing identified a novel homozygous missense mutation in SLC25A22 gene (c.97A>G; p.Lys33Glu), as the likely cause of the disease. The phenotype of our patient and EEG recordings do not completely overlap with the phenotypes previously described, leading to a new and more complex form of disease associated with SLC25A22 variants, characterized by dyskinetic movements and oculogyric crisis.

Emotional and Behavioural Factors Predisposing to Internet Addiction: The Smartphone Distraction among Italian High School Students.

In a digitally oriented society, smartphones provide continual online accessibility to daily life while simultaneously predisposing adolescents to engage in prolonged connections for various purposes, thus escalating the risk of Internet addiction (IA). Cognitive processes such as multitasking and attentional shifting are frequently associated with smartphone activities. Additionally, online engagements may serve as emotional strategies for regulating negative states (e.g., boredom and distress), redirecting attention towards more gratifying activities, such as social media contents. This study delves into cognitive-emotional processes (i.e., emotion regulation, attention impulsiveness, online vigilance, and multitasking) and emotional/behavioural factors (i.e., emotional problems, conduct problems, hyperactivity/inattention, peer relationships, and prosocial behaviours) that may be implicated in smartphone activities and technology addiction among adolescents. A community sample of Italian high school students (N = 676; 42.2% females) completed the Smartphone Distraction Scale (SDS), the Strength and Difficulties Questionnaire (SDQ) for internalising/externalising symptoms and the Internet Addiction Test (IAT) to assess the presence and severity of IA. The scores on the SDS were found to be positively associated with IA levels. Furthermore, students exhibiting higher internalising/externalising symptoms, particularly those with traits of attention deficit hyperactivity disorder (ADHD), are more likely to manifest problematic smartphone usage. The implications for screening adolescents more susceptible to developing IA symptoms and for implementing preventive interventions are discussed.

Cerebellum and Prematurity: A Complex Interplay Between Disruptive and Dysmaturational Events.

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.