Prevalence of epilepsy in childhood: An epidemiological study in Sardinia.

BACKGROUND: The aim of this study was to investigate the frequency and characteristics of pediatric epilepsy in the geographic isolate of Sardinia island and to calculate the prevalence of active epilepsy. METHODS: The study was retrospective, observational and involved a systematic review of medical records and computerized archives containing all clinical and EEG recordings of patients with epilepsy referred to the regional structures that could have followed patients with epilepsy in South Sardinia, during the period 2003-2021. RESULTS: The study population included 112,912 children and adolescents (age ≤ 18 years). 618 children and adolescents (women 42.4 %) were identified. Family history of epilepsy was reported in 153 (26.1 %). Etiology was genetic in 64.5 % and structural in 26.7 % subjects. Focal seizures were reported in 51.6 % of subjects, followed by 34.7 % with generalized seizures and 10.6 % of patients experienced both type of seizures. A total of 301 subjects with active epilepsy in 2019 were identified resulting in a prevalence of 2.67 per 1000 (95 % CI 2.37-2.97). Prevalence in the age class 5-14 years was 4.21 per 1000 (95 % CI 3.72-4.76). CONCLUSION: Compared to the previous studies in distinct geographic isolates, the present study showed a significantly low prevalence rate of active epilepsy; a high percentage of focal seizures and genetic etiology.

Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series.

PURPOSE: EEG anomalies and epilepsy are a not so rare clinical manifestation in patients with Phosphatase and tensin homolog (PTEN) variants. The main aim of this study is to analyze the characteristics of EEG traces, neuroimaging findings and epilepsy to better define the neurological aspects in a set of patients with PTEN variants collected in four Italian Centres. As a secondary aim, we describe the neurodevelopmental profile and the psychiatric comorbidities of this cohort. METHODS: Patients with PTEN variants, identified by Sanger sequencing or target resequencing, were enrolled. For each subjects, clinical data were retrospectively extracted from medical charts, with a focus on epilepsy and neuroimaging data. RESULTS: 54 patients with PTEN variants were enrolled, with a mean age of 18.8 years. 72.2% have at least one psychiatric diagnosis, being Autism Spectrum Disorder and Intellectual Disability the most frequent diagnosis (29 and 25 cases, respectively). 22 subjects show an abnormal EEG and 8 received a diagnosis of epilepsy, mainly focal epilepsy (7/8), with a mean age at seizure onset of 3.8 years. 3/8 subjects have a drug resistant epilepsy, independently from the underlying neuroimaging pattern. The finding of a Focal cortical dysplasia is significantly associated with both an abnormal EEG (p = 0.02) and the occurrence of seizures (p = 0.002). CONCLUSION: EEG should be taken into consideration in the first-line diagnostic flowchart of subjects with PTEN variants. The onset of a focal epilepsy, independently from its response to antiepileptic drugs, highly recommends to carry out a neuroimaging exam.

Artificial Neural Networks Analysis of polysomnographic and clinical features in Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS): from sleep alteration to "Brain Fog".

STUDY OBJECTIVES: PANS (pediatric acute onset neuropsychiatric syndrome) is thought to be the result of several mechanisms and multiple etiologies, ranging from endocrine/metabolic causes to postinfectious autoimmune and neuroinflammatory disorders. Sleep disorders represent one of the most frequent manifestations of PANS, involving around 80% of patients. The present study describes the clinical and polysomnographic features in a group of PANS children identifying the relationships between sleep disorders and other PANS symptoms. METHODS: All participants underwent a clinical evaluation including comprehensive sleep history, polysomnography, cognitive assessment and blood chemistry examination. A data mining approach with fourth-generation artificial neural networks has been used in order to discover subtle trends and associations among variables. RESULTS: Polysomnography showed abnormality in 17 out of 23 recruited subjects (73.9%). In particular, 8/17 children (47%) had ineffective sleep, 10/17 (58.8%) fragmented sleep, 8/17 (47.1%) periodic limb movement disorder (PLMD) and 11/17 (64.7%) REM-sleep without atonia (RSWA). Most subjects presented more than one sleep disturbances. Notably, among the 19/23 patients diagnosed with Tic/Tourette disorder, 8/19 (42.1%) show PLMD and 10/19 (52.6%) RSWA. Artificial neural network methodology and the auto-contractive map exploited the links among the full spectrum of variables revealing the simultaneous connections among them, facing the complexity of PANS phenotype. CONCLUSION: Disordered sleep represents, for prevalence and impact on quality of life, a cardinal symptom in patients with PANS. Thus, considering the weight of sleep disturbances on diagnosis and prognosis of PANS, we could consider the possibility of including them among the major diagnostic criteria.

An international clinical study of ability and disability in ADHD using the WHO-ICF framework.

This is the fourth and final study designed to develop International Classification of Functioning, Disability and Health (ICF, and children and youth version, ICF-CY) core sets for attention-deficit hyperactivity disorder (ADHD). To investigate aspects of functioning and environment of individuals with ADHD as documented by the ICF-CY in clinical practice settings. An international cross-sectional multi-centre study was applied, involving nine units from eight countries: Denmark, Germany, India, Italy, Portugal, Saudi Arabia, Sweden and Taiwan. Clinicians and clinical researchers rated the functioning level of 112 children, adolescents and adults with ADHD using the extended ICF-CY checklist version 2.1a. The ratings were based on a variety of information sources, such as medical records, medical history, clinical observations, clinical questionnaires, psychometric tests and structured interviews with participants and family members. In total, 113 ICF-CY categories were identified, of which 50 were related to the activities and participation, 33 to environmental factors and 30 to body functions. The clinical study also yielded strengths related to ADHD, which included temperament and personality functions and recreation and leisure. The study findings endorse the complex nature of ADHD, as evidenced by the many functional and contextual domains impacted in ADHD. ICF-CY based tools can serve as foundation for capturing various functional profiles and environmental facilitators and barriers. The international nature of the ICF-CY makes it possible to develop user-friendly tools that can be applied globally and in multiple settings, ranging from clinical services and policy-making to education and research.

Late-onset epileptic spasms: clinical evidence and outcome in 34 patients.

To evaluate the diverse presentation and course of late-onset epileptic spasms in relation to etiology, we analyzed the clinical, electroencephalographic (EEG), and prognostic features in 34 patients. We divided the patient sample into cryptogenic or symptomatic based on etiology. An association emerged between symmetric spasms at onset and focal interictal EEG abnormalities in cryptogenic patients, and onset with focal or generalized seizures before displaying asymmetric spasms, and multifocal or diffuse EEG abnormalities, in the symptomatic group. Despite an overall poor prognosis, symptomatic patients starting with generalized seizures seem to have a relatively more favorable outcome. The high occurrence of intellectual disability, and sometimes psychomotor regression, confirmed this rare and poorly understood heterogeneous clinical condition as a severe form of epileptic encephalopathy that deserves further study.