The impact of a newly established specialized pediatric epilepsy center in Tanzania: An observational study.

PURPOSE: This study evaluated the impact of a newly established clinic for the diagnosis of pediatric epilepsy in a resource-limited center (Ifakara, Tanzania). METHODS: Patients aged 0-18 years referred to the Pediatric Epilepsy Unit of Saint Francis Referral Hospital were recruited. Demographic and clinical data were collected through Kobo Toolbox and analyzed through a descriptive analysis.. RESULTS: 143 patients were evaluated, and for 48 of them an EEG was recorded (abnormalities were detected in 80.85% of the cases). The diagnosis of epilepsy was confirmed in 87 patients. Focal epilepsy was diagnosed in 57 patients, generalized epilepsy in 24 patients, and forms of unknown onset in 6 patients. Epilepsy was excluded for 9 children. Etiologies included hypoxic-ischemic encephalopathy (39%), central nervous system infections (3.4%), and genetic diseases (3.4%). A specific epilepsy syndrome was diagnosed in 16 patients. 74 patients were under treatment; the most used antiseizure medication (ASM) was phenobarbital (43.36%), followed by carbamazepine (16.08%), sodium valproate (11.19%), phenytoin (2.8%), and lamotrigine (0.7%). Therapeutic changes were proposed to 95 patients, more frequently consisting of withdrawing phenobarbital (39.16%), switching to sodium valproate (27.97%), switching to or adjusting carbamazepine dosage (27.27%), and starting prednisone (2.8%). 76% of the patients with confirmed epilepsy achieved complete seizure freedom at the fourth follow-up consultation. CONCLUSIONS: Our data depicted the epilepsy spectrum and highlighted the prognostic implications of improving the availability of ASMs such as sodium valproate and second- and third-generation ones in resource-limited countries.

Daydreaming and psychopathology in adolescence: An exploratory study.

AIM: Daydreaming is a cognitive phenomenon characterized by the redirection of attention from the external world to inner representations. Although serving several adaptive functions, excessive daydreaming has been related to emotional problems and poor psychosocial adjustment. During adolescence, this phenomenon has been scarcely explored as potential psychopathological correlate. This study aims to explore daydreaming frequency and association with psychopathological symptoms in a non-referred population. METHODS: Participants were adolescents from a community sample (N = 251). Daydreaming was assessed through the Daydreaming Frequency Scale (DDFS). Youth Self-Report (YSR) and Strength and Difficulties Questionnaire (SDQ) were used as self-reports to evaluate psychopathological problems and adaptive functioning. RESULTS: Excessive daydreaming was present in 12.7% of participants. DDFS scores were significantly elevated in respondents with clinical scores for internalizing, depressive, obsessive-compulsive, and post-traumatic stress problems. Symptom severity correlated positively with the DDFS. Higher daydreaming was also associated with emotional symptoms, conduct problems and total difficulties on the SDQ. CONCLUSIONS: Adolescents who daydream show increased depressive, obsessive-compulsive, and post-traumatic stress symptoms. Possible cognitive processes at play in the relationship between daydreaming and psychopathology are discussed. Daydreaming may represent a silent psychopathological index that deserves better recognition in the clinical practice and in mental health initiatives for adolescents.

Analyzing the Potential Biological Determinants of Autism Spectrum Disorder: From Neuroinflammation to the Kynurenine Pathway.

Autism Spectrum Disorder (ASD) etiopathogenesis is still unclear and no effective preventive and treatment measures have been identified. Research has focused on the potential role of neuroinflammation and the Kynurenine pathway; here we review the nature of these interactions. Pre-natal or neonatal infections would induce microglial activation, with secondary consequences on behavior, cognition and neurotransmitter networks. Peripherally, higher levels of pro-inflammatory cytokines and anti-brain antibodies have been identified. Increased frequency of autoimmune diseases, allergies, and recurring infections have been demonstrated both in autistic patients and in their relatives. Genetic studies have also identified some important polymorphisms in chromosome loci related to the human leukocyte antigen (HLA) system. The persistence of immune-inflammatory deregulation would lead to mitochondrial dysfunction and oxidative stress, creating a self-sustaining cytotoxic loop. Chronic inflammation activates the Kynurenine pathway with an increase in neurotoxic metabolites and excitotoxicity, causing long-term changes in the glutamatergic system, trophic support and synaptic function. Furthermore, overactivation of the Kynurenine branch induces depletion of melatonin and serotonin, worsening ASD symptoms. Thus, in genetically predisposed subjects, aberrant neurodevelopment may derive from a complex interplay between inflammatory processes, mitochondrial dysfunction, oxidative stress and Kynurenine pathway overexpression. To validate this hypothesis a new translational research approach is necessary.

PRICKLE1-related early onset epileptic encephalopathy.

The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated with heterozygous mutations, agenesis of corpus callosum, polymicrogyria, and autistic spectrum disorder. Reported here is a young boy with a new variant (NM_153026.2:c.820G>A, p.Ala274Thr) presenting with an early infantile epileptic encephalopathy with developmental arrest.