Publications by authors named "Thomas Foiadelli"

Background: Acute neuropsychiatric disorders are heterogeneous conditions resulting from interaction between genetic and environmental features. Among these, post infectious forms like Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) are common. Preclinical studies suggest a role of CNS T-helper-17/interleukin-17 (IL-17) inflammatory mediated response in the pathogenesis of these disorders.

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  • Developmental and epileptic encephalopathies (DEE) are disorders that can be caused by new mutations in a specific gene, leading to different symptoms, from severe conditions to milder ones like autism.
  • A case study of a six-year-old boy showed he had a new mutation in that gene, but he did not develop epilepsy and had a normal brain scan over five years.
  • This case helps us understand that not everyone with mutations in this gene will have serious problems, which is important for doctors to know when diagnosing developmental delays.
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Sydenham's chorea (SC), an autoimmune disorder affecting the central nervous system, is a pivotal diagnostic criterion for acute rheumatic fever. Primarily prevalent in childhood, especially in developing countries, SC manifests with involuntary movements and neuropsychiatric symptoms. Predominantly occurring between ages 5 and 15, with a female bias, SC may recur, particularly during pregnancy or estrogen use.

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  • The study investigates long-term epilepsy outcomes in pediatric patients who experienced acute central nervous system complications during hematopoietic cell transplantation (HCT).
  • Data was collected from 94 patients, revealing that common acute complications included posterior reversible encephalopathy syndrome and infections, with a notable incidence of acute symptomatic seizures.
  • Findings indicate that 9.6% of patients were diagnosed with long-term epilepsy, especially those who experienced acute symptomatic status epilepticus, highlighting the need for specialized neurological follow-up in these cases.
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Background: Cerebrospinal fluid myelin oligodendrocyte glycoprotein IgG (CSF MOG-IgG) are found in a proportion of patients with MOG antibody-associated disorder (MOGAD) and have been associated with severe disease presentations. However, most studies did not systematically investigate the role of MOG-IgG intrathecal synthesis (ITS).

Methods: We retrospectively studied 960 consecutive patients with paired serum and CSF samples screened for MOG-IgG using a live cell-based assays.

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Febrile seizures (FS) are commonly perceived by healthcare professionals as a self-limited condition with a generally 'benign' nature. Nonetheless, they frequently lead to pediatric consultations, and their management can vary depending on the clinical context. For parents and caregivers, witnessing a seizure can be a distressing experience, significantly impacting their quality of life.

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The adaptor protein 4 (AP-4) constitutes a conserved hetero-tetrameric complex within the family of adaptor protein (AP) complex, crucial for the signal-mediated trafficking of integral membrane proteins. Mutations affecting all subunits of the AP-4 complex have been linked to autosomal-recessive cerebral palsy and a complex hereditary spastic paraparesis (HSP) phenotype. Our report details the case of a 14-year-old boy born to consanguineous parents, presenting psychomotor delay, severe intellectual disability, microcephaly, and trigonocephaly.

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Objectives: CDKL5 developmental and epileptic encephalopathy (CDKL5-DEE) is a rare X-linked dominant genetic disorder. Family-centered Early Intervention (EI) programs, which promote axonal plasticity and synaptic reorganization through exposure to an enriched environment, should be integrated into clinical practice. However, there is presently a dearth of dedicated EI protocols for patients with CDKL5-DEE and cerebral visual impairment (CVI).

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Objective: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy.

Methods: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG.

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Background: Neurodevelopmental disorders have a multifactorial etiology, since biological, genetic, psychosocial and environmental risk factors are involved. Recent studies have been linking neurodevelopmental disorders and intellectual disability with a variety of genes, some of which encoding neuronal cell-adhesion molecules. Among these, KIRREL3 is known to play a role in CNS development, and his variants have recently been related to intellectual disability, autism spectrum disorder, childhood apraxia of speech, cerebellar hypoplasia and mild dysmorphic features.

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Introduction: Hypophosphatasia (HPP) is a rare genetic disease caused by inactivating variants of the ALPL gene. Few data are available on the clinical presentation in Italy and/or on Italian HPP surveys.

Methods: There were 30 suspected HPP patients recruited from different Italian tertiary cares.

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Background: Preschool age (i.e. children under six years of age) represents a red flag for requiring neuroimaging to exclude secondary potentially urgent intracranial conditions (PUIC) in patients with acute headache.

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The relationship between migraines and allergies is controversial. Though they are epidemiologically linked, the underlying pathophysiological connection between them remains unclear. Migraines and allergic disorders have various underlying genetic and biological causes.

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  • - Deleterious variants in collagen genes are a primary cause of hereditary connective tissue disorders (HCTD), and there's a need for better adaptations of existing classification criteria by ACMG/AMP.
  • - A multidisciplinary team developed tailored ACMG/AMP specifications for key collagen genes, effectively classifying pathogenic variants, particularly focusing on null alleles and certain glycine substitutions.
  • - The new criteria aim to clarify the interpretation of genetic variants in HCTD, helping reduce ambiguities and improving the clinical application of molecular testing by fostering better collaboration between labs and clinicians.
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Neurovisual involvement has been reported in a number of patients with severe SARS-CoV-2 disease (COVID-19), mainly among adult patients. In children, such involvement has been reported in rare cases, often in those presenting with severe forms of COVID-19. The aim of this work is to explore the association between mild COVID-19 and neurovisual manifestations.

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In recent years, there has been a significant increase in the diagnosis of asymptomatic Late-Onset Pompe Disease (LOPD) patients, who are detected via family screening or Newborn Screening (NBS). The dilemma is when to start Enzyme Replacement Therapy (ERT) in patients without any clinical sign of the disease, considering its important benefits in terms of loss of muscle but also its very high cost, risk of side effects, and long-term immunogenicity. Muscle Magnetic Resonance Imaging (MRI) is accessible, radiation-free, and reproducible; therefore, it is an important instrument for the diagnosis and follow-up of patients with LOPD, especially in asymptomatic cases.

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  • IgG antibodies against myelin oligodendrocyte glycoprotein (MOG-IgG) are linked to myelin oligodendrocyte glycoprotein associated disorders (MOGAD), which may flare up over time, but there's limited info on predicting these relapses.* -
  • This study analyzed 102 MOGAD patients by measuring MOG-IgG titres over time and found that higher titres during remission indicated a greater risk of future relapses.* -
  • The findings suggest that monitoring MOG-IgG levels could help identify patients who might need long-term treatment to prevent relapse, especially those with persistent positivity or high remission titres.*
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  • The study aimed to identify early indicators of relapse and outcomes in pediatric patients with myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD).* -
  • Researchers analyzed data from 75 children, finding differences in disease presentation based on age; younger patients were more likely to present with acute disseminated encephalomyelitis, while older patients saw more cases of optic neuritis.* -
  • Results highlighted specific early treatment factors, such as starting immunotherapy within 7 days or prolonged corticosteroid use, as associated with lower relapse risks; 21.1% of patients had moderate to severe disability at final follow-up, particularly among those with relapsing disease.*
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Sydenham's chorea (SC) is a post-streptococcal autoimmune disorder of the central nervous system, and it is a major criterium for the diagnosis of acute rheumatic fever (ARF). SC typically improves in 12-15 weeks, but patients can be affected for years by persistence and recurrencies of both neurological and neuropsychiatric symptoms. We enrolled 48 patients with a previous diagnosis of ARF, with or without SC, in a national multicenter prospective study, to evaluate the presence of neuropsychiatric symptoms several years after SC's onset.

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Introduction: Stroke-like syndrome (SLS) is a rare subacute neurological complication of intrathecal or high-dose (≥500 mg) Methotrexate (MTX) administration. Its clinical features, evoking acute cerebral ischaemia with fluctuating course symptoms and a possible spontaneous resolution, have elicited interest among the scientific community. However, many issues are still open on the underlying pathogenesis, clinical, and therapeutic management and long-term outcome.

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  • Moyamoya is a rare brain artery disease that causes strokes and TIAs in children, either on its own (MMD) or alongside other conditions (MMS), accounting for 6-10% of these incidents.
  • The study was conducted on 65 pediatric patients in Italy to analyze how the disease presents, progresses, is treated, and its outcomes.
  • Findings revealed that most patients had symptoms (82%), many experienced strokes or TIAs, and 73% underwent surgery; however, 20% had subsequent strokes, and at follow-up, 43% had motor deficits, 31% intellectual disabilities, and other complications.
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Introduction Intracranial aneurysms (IAs) are devastating cerebrovascular diseases with multifactorial etiology. The role of inflammation is indisputable, and interleukins are pivotal in supporting local inflammatory pathways and endothelial dysfunction at the aneurysm wall. In the light of insufficient evidence reported in the literature, this meta-analysis was aimed to investigate the genetic linkage between IL-1β (rs16944) -511C>T polymorphisms and IAs susceptibility.

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