Publications by authors named "Katerina Bernardi"

Neurodevelopmental disorders, such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), do often present in comorbidity among them and with other medical conditions, including sleep and gastrointestinal (GI) disorders and somatic complaints. An anonymous online survey based on standardized questionnaires (SDSC, KL-ASD, APSI, ROME V CRITERIA, CPRS, CBCL) was completed by the parents of 46 preschoolers diagnosed with ASD. A high prevalence (47%) of ADHD symptoms in this population was found, surpassing previous estimates.

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Article Synopsis
  • Functional neurological symptom disorders (FNSD) are commonly encountered in clinical practice, especially in children, and can be mistaken for other medical issues due to their complex symptoms.
  • The review contrasts FNSD with various psychiatric and neurological disorders, clarifying that FNSD should be viewed as a diagnosis of inclusion, not just exclusion based on overlapping symptoms.
  • A key case study of a 14-year-old boy initially diagnosed with FNSD, later found to have paroxysmal kinesigenic dyskinesia, highlights the need for thorough assessment to avoid misdiagnosing FNSD and to identify true underlying conditions.
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Article Synopsis
  • The study explores the prevalence of sleep disturbances among individuals with autism, focusing on current and past sleep issues reported by parents.
  • It involved 143 participants, revealing that insomnia and difficulty falling asleep were the most common sleep disorders, with just one-third of parents finding sleep hygiene practices effective.
  • The research highlights the negative impact of sleep disturbances on children's behavior and family life, while suggesting that melatonin could be a potentially beneficial intervention.
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Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects).

Patients And Methods: We conducted a systematic review of published pediatric cases with a confirmed molecular genetic diagnosis of vitamin B6-dependent epilepsy according to PRISMA guidelines. Data on demographic features, seizure semiology, EEG patterns, neuroimaging, treatment, and developmental outcomes were collected.

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Over the last years, a constantly increasing number of genetic diseases associated with epilepsy and movement disorders have been recognized. An emerging group of conditions in this field is represented by genetic disorders affecting G-protein-coupled receptors (GPCRs)-cAMP signaling. This group of postsynaptic disorders includes genes encoding for proteins highly expressed in the central nervous system and involved in GPCR signal transduction and cAMP production (e.

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This review investigates the association between vitamin D and sleep disorders. Vitamin D is an essential nutrient known to play an important role in the growth and bone health of the human body, but it also appears to play a role in sleep. The goal of our review is to examine the association between vitamin D and sleep disorders in children and adolescents.

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