Alberto Spalice - Academia.edu (original) (raw)

Papers by Alberto Spalice

Research paper thumbnail of Profilassi Intermittente e Continuativa Nella Prevenzione Delle Recidive Delle Convulsioni Febbrili: Risultati a Confronto

Research paper thumbnail of Demyelinating diseases in pediatric age multiple sclerosis: New diagnostic strategies

Paediatria Croatica, 1997

Research paper thumbnail of Immunizzazioni Active e Danno Neurologico

Research paper thumbnail of Nuovi Farmaci Nella Terapia Dell'Epilessia Dell'Infanzia: Vigabatrin (Studio DI 61 Soggetti)

Pediatria Medica e Chirurgica, 1995

Research paper thumbnail of Dilated Virchow-Robin spaces in children with seizures. A possible correlation?

Medical Hypotheses, Mar 1, 2020

This is a PDF file of an article that has undergone enhancements after acceptance, such as the ad... more This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

Research paper thumbnail of COVID-19, Anosmia, and Allergies: Is There a Relationship? A Pediatric Perspective

Journal of Clinical Medicine, Aug 26, 2022

This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY

Research paper thumbnail of Eye movement desensitisation and reprocessing (EMDR) treatment associated with parent management training (PMT) for the acute symptoms in a patient with PANDAS syndrome: a case report

Italian Journal of Pediatrics, Jun 26, 2019

Background: The purpose of this report was to present the results of eye movement desensitisation... more Background: The purpose of this report was to present the results of eye movement desensitisation and reprocessing (EMDR) therapy associated with parent management training (PMT) in a child with paediatric autoimmune neuropsychiatric disorder associated with streptococcus (PANDAS), who had previously only been treated with pharmacological treatment. Case presentation: The case concerns an 11-year-old boy who presented with simple and complex vocal tics, motor tics, obsessive-compulsive traits and irritability from the age of 6 years, in addition to a positive result for streptococcal infection. The course of symptoms followed a relapsing-remitting trend with acute phases that were contingent on the infectious episodes. Conclusions: Following eight sessions of EMDR, preceded by training sessions with the parents, the child showed a significant reduction in symptoms and disappearance of the exacerbation. These results indicate the possibility of improving the treatment outcomes of patients with PANDAS by a combined approach using both antibiotic and EMDR therapies.

Research paper thumbnail of COVID-19 and abducens nerve palsy in a 9-year-old girl—case report

Italian Journal of Pediatrics, Jun 18, 2022

Background: Coronavirus disease 2019 (COVID-19) is a disease caused by severe acute respiratory s... more Background: Coronavirus disease 2019 (COVID-19) is a disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Although many reports have detailed a range of neurological symptoms in SARS-CoV-2-infected patients, studies of neuro-ophthalmological manifestations are still scarce. Case presentation: We report a 9-year-old girl with abducens nerve palsy after COVID-19 with no evidence of other neurological disease on neuroimaging. At 2-month follow-up clinical conditions were improved. Conclusions: The palsy may have occurred due to a possible post-infectious immune-mediated mechanism underlying the neuropathy, as opposed to direct viral infiltration. Despite being rare, this complication must be taken into account.

Research paper thumbnail of Could Rolandic spikes be a prognostic factor of the neurocognitive outcome of children with BECTS?

Epilepsy & Behavior, Sep 1, 2018

Introduction: Rolandic epilepsy, also known as benign childhood epilepsy with centrotemporal spik... more Introduction: Rolandic epilepsy, also known as benign childhood epilepsy with centrotemporal spikes (BECTS), is one of the most common epileptic syndromes in previously healthy children. Despite what was known about the benignity of this syndrome, there is always more evidence about the involvement of the cognitive functions with different deficits in several domains to be investigated. Aim of the study: The aim of our study was to describe prognostic electroencephalogram (EEG) pattern of an adverse cognitive development to recognize patients at higher risk of lasting cognitive deficits that could need antiepileptic drugs (AEDs) or an improved neurocognitive therapy. In addition, we wanted to investigate the existence of a possible linkage between the number of interictal epileptiform discharges (IEDs) in the EEG and the more pronounced cognitive deficits. Material and methods: We performed a case-control study on a cohort of 16 patients (10 male and 6 female) aged 4-14, diagnosed with BECTS who underwent EEG, magnetic resonance imaging (MRI), and neurocognitive assessment at the Pediatric Neurology Unit at the Umberto I Hospital, Sapienza University of Rome. Patients were divided into two groups according to the percentage of IEDs evaluated based on their sleep EEG: group A with less than 50% of the entire EEG invaded by discharges in more than 70% of the total number of EEG performed, so-called with low or intermediate activation. On the contrary, group B had a high activation, with more than 50% of the entire EEG invaded by discharges in the same percentage of the EEG performed. All children were assessed based on a protocol designed to study neuropsychological functions with specific tests chosen depending on age (Wechsler Intelligence Scale for Children IV: WISC IV; Wechsler Preschool and Primary Scale of Intelligence III: WPPSI III). Groups were compared for cognitive outcomes achieved by each patient through Student's t-test with a significance level of p b 0.05 (two-tailed). Results: There is no statistically significant difference in the cognitive outcomes of these patients: Student's t-test showed a statistical significance (p) for each cognitive index always higher than 0.05, demonstrating that the intellectual quotient (IQ) and all other indexes analyzed (verbal comprehension index (VCI), perceptual reasoning index (PRI), working memory index (WMI), and processing speed index (PSI)) are not affected by the difference in EEG anomalies presented by our patients. Interestingly, all patients had an IQ equal to or greater than the Italian average (12 out of 16 patients showed an IQ N 100), with selective drops, particularly significant in the WMI and also in the PSI. Conclusions: Our results clearly demonstrate the importance of a proper evaluation of patients with this kind of epilepsy, without paying attention only to those with the greatest number of IEDs or seizures because all of them had a neurocognitive impairment, especially in memory. These data may be reinforced by a larger sample for an even more significant statistical value. These results also highlight the importance of a neurocognitive therapy for these children to treat for their specific needs.

Research paper thumbnail of Peripheral nervous system involvement in SARS-CoV-2 infection: a review of the current pediatric literature

Frontiers in Neurology

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was identified as the pathogen respo... more Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was identified as the pathogen responsible for the pandemic health emergency declared by the World Health Organization in March 2020. During the first part of the pandemic, adults showed mild to severe respiratory symptoms. Children seemed initially exempt, both from acute and subsequent complications. Hyposmia or anosmia were promptly identified as the main symptoms of acute infection, so neurotropism of SARS-CoV-2 was immediately suspected. (1, 2). As the emergency progressed, post infectious neurological complications were described also in pediatric population (3). Cases of cranial neuropathy in connection with acute SARS-CoV-2 infection have been reported in pediatric patients, as an isolate post infectious complication or in the context of the multisystem inflammatory syndrome in children (MIS-C) (4–6). Neuroinflammation is thought to be caused by several mechanisms, among which immune/autoimmune reactions (7), but s...

Research paper thumbnail of Breastfeeding in Pediatric Acute-Onset Neuropsychiatric Syndrome: An Italian Observational Study

Frontiers in Pediatrics

Objective:Pediatric acute-onset neuropsychiatric syndrome (PANS) is a condition defined by sudden... more Objective:Pediatric acute-onset neuropsychiatric syndrome (PANS) is a condition defined by sudden onset of obsessive–compulsive symptoms and/or severe eating restrictions, along with at least two other cognitive, behavioral, or neurological symptoms. Its pathogenesis is unknown but it seems triggered by infections, metabolic disturbances, and other inflammatory reactions. PANS represents a neurodevelopmental problem and infant feeding can play a role. Breast milk is the ideal food for infants and influences children's brain, cognitive, and socio-emotional development.Methods:We enrolled 52 children diagnosed with PANS. We interviewed their parents in order to investigate perinatal history, infant feeding, neurologic development, and confounding factors like socio-economic status and region of origin. We subgrouped PANS patients into three subsets: those who only received human milk (HMO), those who only received infant formula, and those who received mixed feeding.Results:The co...

Research paper thumbnail of The psychophysical impact of COVID-19 lockdown on pediatric patients with rheumatological disease

Research paper thumbnail of The Allergic Phenotype of Children and Adolescents with Selective IgA Deficiency: A Longitudinal Monocentric Study

Journal of Clinical Medicine

Background: Selective IgA deficiency (SIgAD) is the most common inborn error of immunity. The exa... more Background: Selective IgA deficiency (SIgAD) is the most common inborn error of immunity. The exact prevalence and pathogenesis of allergy in SIgAD have not yet been defined. We aimed to describe the prevalence and the characteristics of allergy in pediatric SIgAD subjects, evaluate the association between allergy and other comorbidities, and define the immune phenotype of allergic and non-allergic patients. Methods: Clinical and immunological data from 67 SIgAD patients were collected over a 13-year period at a single center. Patients’ characteristics were analyzed according to the presence of allergy. Results: Allergy was diagnosed in 34% of SIgAD patients, with a median age at allergy diagnosis of 8 years. Allergy was the second-most-common clinical manifestation, following recurrent respiratory infections. Among the allergic group, 74% had rhinitis, 30% asthma, 30% atopic dermatitis, and 22% food allergy; one out of three had more than one allergic manifestation. SIgAD patients ...

Research paper thumbnail of Neurological and psychological effects of long COVID in a young population: A cross-sectional study

Frontiers in Neurology

AimWe evaluated the long-term clinical status of pediatric patients after testing positive for CO... more AimWe evaluated the long-term clinical status of pediatric patients after testing positive for COVID-19. We hypothesized that there are similar symptoms to those that have been described in adults and children and that pediatric patients with neurophysiologic symptoms still present 3–5 months after infection have psychological consequences that interfere with their adaptive functioning.MethodWe recruited 322 COVID-19-positive pediatric patients, between 1.5 and 17 years old, from the outpatient clinic for COVID-19 follow-up. Neurological symptoms were analyzed at onset, after 1 month, and after 3–5 months. A psychological assessment with standardized questionnaires was also conducted to determine the impact of the disease.ResultsAt the onset of COVID-19, 60% of the total sample exhibited symptoms; this decreased after 1 month (20%) but stabilized 3–5 months after disease onset (22%). Prevailing long-COVID neurological symptoms were headache, fatigue, and anosmia. In the 1.5–5-year-o...

Research paper thumbnail of Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants

Frontiers in Neurology, 2022

We report on the rare case of a male toddler presenting with myoclonic epilepsy characterized by ... more We report on the rare case of a male toddler presenting with myoclonic epilepsy characterized by daily episodes of upward movements of the eyebrows, and myoclonic jerks of both head and upper limbs. In addition, the child showed speech delay, tremors, and lack of motor coordination. Next Generation Sequencing analysis (NGS) performed in trio revealed in the proband the c.889C>T de novo missense variant in the KCNA2 gene in heterozygous state. This is the first case of myoclonic epilepsy in a toddler due to a c.889C>T KCNA2 missense variant. The patient was treated with valproic acid and ethosuximide with a good clinical response. At 6 years old, follow-up revealed that the proband was seizure-free with tremors and clumsiness in movements. According to the literature, this case supports the correlation between myoclonic epilepsy and KCNA2 alterations. This evidence suggests that performing genomic testing including the KCNA2 gene in preschool patients affected by myoclonic epil...

Research paper thumbnail of Convulsioni febbrili e crisi convulsive associate a febbre

Diagnosi differenziale tra crisi convulsive febbrili e crisi associate a febbre

Research paper thumbnail of Clinical Features in Patients With PANDAS/PANS and Therapeutic Approaches: A Retrospective Study

Frontiers in Neurology, 2021

Objective: The clinical characteristics of patients with PANDAS (pediatric autoimmune neuropsychi... more Objective: The clinical characteristics of patients with PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection) and PANS (pediatric acute-onset neuropsychiatric syndrome) and the efficacy of antibiotic therapy with psychotherapy and antipsychotics were investigated to improve neurological symptoms as well as obsessive compulsive disorder (OCD).Methods: We retrospectively analyzed 62 patients with a clinical diagnosis of PANDAS/PANS enrolled from May 14, 2013 to September 15, 2020 in the Neurology Childhood Division, Department of Pediatrics at Sapienza, Rome. Clinical manifestations, neurological and psychiatric, laboratory investigations, and familiar history were collected to evaluate the differences between the two groups. The effects of various therapeutic approaches were examined. Descriptive and comparative statistical analyses were performed.Results: The mean age at onset of PANDAS/PANS symptoms was 6.2 ± 1.2 years. The most common di...

Research paper thumbnail of Risk Factors and Mental Health Promotion Strategies in Children During COVID-19

Frontiers in Public Health, 2020

Research paper thumbnail of Oxidative stress and gut-derived lipopolysaccharides in children affected by Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections

Backgroundpaediatric autoimmune neuropsychiatric disorders associated with streptococcal infectio... more Backgroundpaediatric autoimmune neuropsychiatric disorders associated with streptococcal infections syndrome (PANDAS) identifies patients with acute onset of obsessive-compulsive and tic disorders. The objective of this study was to assess NOX2 activity, as well as serum 8-iso-prostaglandin F2α (iso-PGF2α) and lipopolysaccharide (LPS) derived from Gram-negative bacteria in the gut of patients with PANDAS. Methodsa cross sectional study was performed to compare serum activity of soluble NOX-2-dp (sNOX-2-dp), blood levels of isoprostanes and LPS in 60 consecutive subjects, including 30 children affected by PANDAS and 30 controls (CT) matched for age and gender. Serum zonulin was used to assess gut permeability. Resultscompared with CT, PANDAS children had higher values of sNOX-2-dp, 8-iso-PGF2-alpha and LPS. Simple linear regression analysis showed that sNOX2-dp was significantly correlated with serum LPS (Rs=0.359; p=0.005), zonulin (Rs=0.444; p<0.001) and iso-PGF2α (Rs=0.704; p&lt...

Research paper thumbnail of Focus on Cardiologic Findings in 30 Children With PANS/PANDAS: An Italian Single-Center Observational Study

Frontiers in Pediatrics, 2019

Objective: Cardiac involvement in PANS has not been clarified relying on the scientific literatur... more Objective: Cardiac involvement in PANS has not been clarified relying on the scientific literature available until today. It is known that streptococcal infections play a role in the etiology of a great number of diseases including Sydenham chorea and rheumatic fever, among others. Based on the suspected pathogenesis of PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections) reported in the medical literature, we decided to investigate the cardiologic involvement in children with a recent PANS/PANDAS diagnosis. Methods: The study population satisfies PANS (1) and PANDAS (2) criteria of diagnoses. Cardiologic assessment was performed through clinical examination, electrocardiography, and echocardiography. Results: In the selected pediatric population, a significant number of children presented mitral valve involvement, systolic murmurs and electrocardiographic abnormalities. High ASLOT levels did not seem to be associated to a cardiac involvement. Conclusions: Often PANS is difficult to diagnose because it is little known by physicians and most of the cardiologic findings described in this study are common among the healthy pediatric population. Also, ASLOT levels seems not to be predictive of cardiac involvement. Furthermore, the existence of PANDAS as a clinical entity is associated with a group of anti-neuronal autoantibodies found in Sydenham chorea is still controversial. We recommend a complete cardiologic evaluation in those children who meet the PANS/PANDAS diagnostic criteria.

Research paper thumbnail of Profilassi Intermittente e Continuativa Nella Prevenzione Delle Recidive Delle Convulsioni Febbrili: Risultati a Confronto

Research paper thumbnail of Demyelinating diseases in pediatric age multiple sclerosis: New diagnostic strategies

Paediatria Croatica, 1997

Research paper thumbnail of Immunizzazioni Active e Danno Neurologico

Research paper thumbnail of Nuovi Farmaci Nella Terapia Dell'Epilessia Dell'Infanzia: Vigabatrin (Studio DI 61 Soggetti)

Pediatria Medica e Chirurgica, 1995

Research paper thumbnail of Dilated Virchow-Robin spaces in children with seizures. A possible correlation?

Medical Hypotheses, Mar 1, 2020

This is a PDF file of an article that has undergone enhancements after acceptance, such as the ad... more This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

Research paper thumbnail of COVID-19, Anosmia, and Allergies: Is There a Relationship? A Pediatric Perspective

Journal of Clinical Medicine, Aug 26, 2022

This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY

Research paper thumbnail of Eye movement desensitisation and reprocessing (EMDR) treatment associated with parent management training (PMT) for the acute symptoms in a patient with PANDAS syndrome: a case report

Italian Journal of Pediatrics, Jun 26, 2019

Background: The purpose of this report was to present the results of eye movement desensitisation... more Background: The purpose of this report was to present the results of eye movement desensitisation and reprocessing (EMDR) therapy associated with parent management training (PMT) in a child with paediatric autoimmune neuropsychiatric disorder associated with streptococcus (PANDAS), who had previously only been treated with pharmacological treatment. Case presentation: The case concerns an 11-year-old boy who presented with simple and complex vocal tics, motor tics, obsessive-compulsive traits and irritability from the age of 6 years, in addition to a positive result for streptococcal infection. The course of symptoms followed a relapsing-remitting trend with acute phases that were contingent on the infectious episodes. Conclusions: Following eight sessions of EMDR, preceded by training sessions with the parents, the child showed a significant reduction in symptoms and disappearance of the exacerbation. These results indicate the possibility of improving the treatment outcomes of patients with PANDAS by a combined approach using both antibiotic and EMDR therapies.

Research paper thumbnail of COVID-19 and abducens nerve palsy in a 9-year-old girl—case report

Italian Journal of Pediatrics, Jun 18, 2022

Background: Coronavirus disease 2019 (COVID-19) is a disease caused by severe acute respiratory s... more Background: Coronavirus disease 2019 (COVID-19) is a disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Although many reports have detailed a range of neurological symptoms in SARS-CoV-2-infected patients, studies of neuro-ophthalmological manifestations are still scarce. Case presentation: We report a 9-year-old girl with abducens nerve palsy after COVID-19 with no evidence of other neurological disease on neuroimaging. At 2-month follow-up clinical conditions were improved. Conclusions: The palsy may have occurred due to a possible post-infectious immune-mediated mechanism underlying the neuropathy, as opposed to direct viral infiltration. Despite being rare, this complication must be taken into account.

Research paper thumbnail of Could Rolandic spikes be a prognostic factor of the neurocognitive outcome of children with BECTS?

Epilepsy & Behavior, Sep 1, 2018

Introduction: Rolandic epilepsy, also known as benign childhood epilepsy with centrotemporal spik... more Introduction: Rolandic epilepsy, also known as benign childhood epilepsy with centrotemporal spikes (BECTS), is one of the most common epileptic syndromes in previously healthy children. Despite what was known about the benignity of this syndrome, there is always more evidence about the involvement of the cognitive functions with different deficits in several domains to be investigated. Aim of the study: The aim of our study was to describe prognostic electroencephalogram (EEG) pattern of an adverse cognitive development to recognize patients at higher risk of lasting cognitive deficits that could need antiepileptic drugs (AEDs) or an improved neurocognitive therapy. In addition, we wanted to investigate the existence of a possible linkage between the number of interictal epileptiform discharges (IEDs) in the EEG and the more pronounced cognitive deficits. Material and methods: We performed a case-control study on a cohort of 16 patients (10 male and 6 female) aged 4-14, diagnosed with BECTS who underwent EEG, magnetic resonance imaging (MRI), and neurocognitive assessment at the Pediatric Neurology Unit at the Umberto I Hospital, Sapienza University of Rome. Patients were divided into two groups according to the percentage of IEDs evaluated based on their sleep EEG: group A with less than 50% of the entire EEG invaded by discharges in more than 70% of the total number of EEG performed, so-called with low or intermediate activation. On the contrary, group B had a high activation, with more than 50% of the entire EEG invaded by discharges in the same percentage of the EEG performed. All children were assessed based on a protocol designed to study neuropsychological functions with specific tests chosen depending on age (Wechsler Intelligence Scale for Children IV: WISC IV; Wechsler Preschool and Primary Scale of Intelligence III: WPPSI III). Groups were compared for cognitive outcomes achieved by each patient through Student's t-test with a significance level of p b 0.05 (two-tailed). Results: There is no statistically significant difference in the cognitive outcomes of these patients: Student's t-test showed a statistical significance (p) for each cognitive index always higher than 0.05, demonstrating that the intellectual quotient (IQ) and all other indexes analyzed (verbal comprehension index (VCI), perceptual reasoning index (PRI), working memory index (WMI), and processing speed index (PSI)) are not affected by the difference in EEG anomalies presented by our patients. Interestingly, all patients had an IQ equal to or greater than the Italian average (12 out of 16 patients showed an IQ N 100), with selective drops, particularly significant in the WMI and also in the PSI. Conclusions: Our results clearly demonstrate the importance of a proper evaluation of patients with this kind of epilepsy, without paying attention only to those with the greatest number of IEDs or seizures because all of them had a neurocognitive impairment, especially in memory. These data may be reinforced by a larger sample for an even more significant statistical value. These results also highlight the importance of a neurocognitive therapy for these children to treat for their specific needs.

Research paper thumbnail of Peripheral nervous system involvement in SARS-CoV-2 infection: a review of the current pediatric literature

Frontiers in Neurology

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was identified as the pathogen respo... more Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was identified as the pathogen responsible for the pandemic health emergency declared by the World Health Organization in March 2020. During the first part of the pandemic, adults showed mild to severe respiratory symptoms. Children seemed initially exempt, both from acute and subsequent complications. Hyposmia or anosmia were promptly identified as the main symptoms of acute infection, so neurotropism of SARS-CoV-2 was immediately suspected. (1, 2). As the emergency progressed, post infectious neurological complications were described also in pediatric population (3). Cases of cranial neuropathy in connection with acute SARS-CoV-2 infection have been reported in pediatric patients, as an isolate post infectious complication or in the context of the multisystem inflammatory syndrome in children (MIS-C) (4–6). Neuroinflammation is thought to be caused by several mechanisms, among which immune/autoimmune reactions (7), but s...

Research paper thumbnail of Breastfeeding in Pediatric Acute-Onset Neuropsychiatric Syndrome: An Italian Observational Study

Frontiers in Pediatrics

Objective:Pediatric acute-onset neuropsychiatric syndrome (PANS) is a condition defined by sudden... more Objective:Pediatric acute-onset neuropsychiatric syndrome (PANS) is a condition defined by sudden onset of obsessive–compulsive symptoms and/or severe eating restrictions, along with at least two other cognitive, behavioral, or neurological symptoms. Its pathogenesis is unknown but it seems triggered by infections, metabolic disturbances, and other inflammatory reactions. PANS represents a neurodevelopmental problem and infant feeding can play a role. Breast milk is the ideal food for infants and influences children's brain, cognitive, and socio-emotional development.Methods:We enrolled 52 children diagnosed with PANS. We interviewed their parents in order to investigate perinatal history, infant feeding, neurologic development, and confounding factors like socio-economic status and region of origin. We subgrouped PANS patients into three subsets: those who only received human milk (HMO), those who only received infant formula, and those who received mixed feeding.Results:The co...

Research paper thumbnail of The psychophysical impact of COVID-19 lockdown on pediatric patients with rheumatological disease

Research paper thumbnail of The Allergic Phenotype of Children and Adolescents with Selective IgA Deficiency: A Longitudinal Monocentric Study

Journal of Clinical Medicine

Background: Selective IgA deficiency (SIgAD) is the most common inborn error of immunity. The exa... more Background: Selective IgA deficiency (SIgAD) is the most common inborn error of immunity. The exact prevalence and pathogenesis of allergy in SIgAD have not yet been defined. We aimed to describe the prevalence and the characteristics of allergy in pediatric SIgAD subjects, evaluate the association between allergy and other comorbidities, and define the immune phenotype of allergic and non-allergic patients. Methods: Clinical and immunological data from 67 SIgAD patients were collected over a 13-year period at a single center. Patients’ characteristics were analyzed according to the presence of allergy. Results: Allergy was diagnosed in 34% of SIgAD patients, with a median age at allergy diagnosis of 8 years. Allergy was the second-most-common clinical manifestation, following recurrent respiratory infections. Among the allergic group, 74% had rhinitis, 30% asthma, 30% atopic dermatitis, and 22% food allergy; one out of three had more than one allergic manifestation. SIgAD patients ...

Research paper thumbnail of Neurological and psychological effects of long COVID in a young population: A cross-sectional study

Frontiers in Neurology

AimWe evaluated the long-term clinical status of pediatric patients after testing positive for CO... more AimWe evaluated the long-term clinical status of pediatric patients after testing positive for COVID-19. We hypothesized that there are similar symptoms to those that have been described in adults and children and that pediatric patients with neurophysiologic symptoms still present 3–5 months after infection have psychological consequences that interfere with their adaptive functioning.MethodWe recruited 322 COVID-19-positive pediatric patients, between 1.5 and 17 years old, from the outpatient clinic for COVID-19 follow-up. Neurological symptoms were analyzed at onset, after 1 month, and after 3–5 months. A psychological assessment with standardized questionnaires was also conducted to determine the impact of the disease.ResultsAt the onset of COVID-19, 60% of the total sample exhibited symptoms; this decreased after 1 month (20%) but stabilized 3–5 months after disease onset (22%). Prevailing long-COVID neurological symptoms were headache, fatigue, and anosmia. In the 1.5–5-year-o...

Research paper thumbnail of Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants

Frontiers in Neurology, 2022

We report on the rare case of a male toddler presenting with myoclonic epilepsy characterized by ... more We report on the rare case of a male toddler presenting with myoclonic epilepsy characterized by daily episodes of upward movements of the eyebrows, and myoclonic jerks of both head and upper limbs. In addition, the child showed speech delay, tremors, and lack of motor coordination. Next Generation Sequencing analysis (NGS) performed in trio revealed in the proband the c.889C>T de novo missense variant in the KCNA2 gene in heterozygous state. This is the first case of myoclonic epilepsy in a toddler due to a c.889C>T KCNA2 missense variant. The patient was treated with valproic acid and ethosuximide with a good clinical response. At 6 years old, follow-up revealed that the proband was seizure-free with tremors and clumsiness in movements. According to the literature, this case supports the correlation between myoclonic epilepsy and KCNA2 alterations. This evidence suggests that performing genomic testing including the KCNA2 gene in preschool patients affected by myoclonic epil...

Research paper thumbnail of Convulsioni febbrili e crisi convulsive associate a febbre

Diagnosi differenziale tra crisi convulsive febbrili e crisi associate a febbre

Research paper thumbnail of Clinical Features in Patients With PANDAS/PANS and Therapeutic Approaches: A Retrospective Study

Frontiers in Neurology, 2021

Objective: The clinical characteristics of patients with PANDAS (pediatric autoimmune neuropsychi... more Objective: The clinical characteristics of patients with PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection) and PANS (pediatric acute-onset neuropsychiatric syndrome) and the efficacy of antibiotic therapy with psychotherapy and antipsychotics were investigated to improve neurological symptoms as well as obsessive compulsive disorder (OCD).Methods: We retrospectively analyzed 62 patients with a clinical diagnosis of PANDAS/PANS enrolled from May 14, 2013 to September 15, 2020 in the Neurology Childhood Division, Department of Pediatrics at Sapienza, Rome. Clinical manifestations, neurological and psychiatric, laboratory investigations, and familiar history were collected to evaluate the differences between the two groups. The effects of various therapeutic approaches were examined. Descriptive and comparative statistical analyses were performed.Results: The mean age at onset of PANDAS/PANS symptoms was 6.2 ± 1.2 years. The most common di...

Research paper thumbnail of Risk Factors and Mental Health Promotion Strategies in Children During COVID-19

Frontiers in Public Health, 2020

Research paper thumbnail of Oxidative stress and gut-derived lipopolysaccharides in children affected by Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections

Backgroundpaediatric autoimmune neuropsychiatric disorders associated with streptococcal infectio... more Backgroundpaediatric autoimmune neuropsychiatric disorders associated with streptococcal infections syndrome (PANDAS) identifies patients with acute onset of obsessive-compulsive and tic disorders. The objective of this study was to assess NOX2 activity, as well as serum 8-iso-prostaglandin F2α (iso-PGF2α) and lipopolysaccharide (LPS) derived from Gram-negative bacteria in the gut of patients with PANDAS. Methodsa cross sectional study was performed to compare serum activity of soluble NOX-2-dp (sNOX-2-dp), blood levels of isoprostanes and LPS in 60 consecutive subjects, including 30 children affected by PANDAS and 30 controls (CT) matched for age and gender. Serum zonulin was used to assess gut permeability. Resultscompared with CT, PANDAS children had higher values of sNOX-2-dp, 8-iso-PGF2-alpha and LPS. Simple linear regression analysis showed that sNOX2-dp was significantly correlated with serum LPS (Rs=0.359; p=0.005), zonulin (Rs=0.444; p<0.001) and iso-PGF2α (Rs=0.704; p&lt...

Research paper thumbnail of Focus on Cardiologic Findings in 30 Children With PANS/PANDAS: An Italian Single-Center Observational Study

Frontiers in Pediatrics, 2019

Objective: Cardiac involvement in PANS has not been clarified relying on the scientific literatur... more Objective: Cardiac involvement in PANS has not been clarified relying on the scientific literature available until today. It is known that streptococcal infections play a role in the etiology of a great number of diseases including Sydenham chorea and rheumatic fever, among others. Based on the suspected pathogenesis of PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections) reported in the medical literature, we decided to investigate the cardiologic involvement in children with a recent PANS/PANDAS diagnosis. Methods: The study population satisfies PANS (1) and PANDAS (2) criteria of diagnoses. Cardiologic assessment was performed through clinical examination, electrocardiography, and echocardiography. Results: In the selected pediatric population, a significant number of children presented mitral valve involvement, systolic murmurs and electrocardiographic abnormalities. High ASLOT levels did not seem to be associated to a cardiac involvement. Conclusions: Often PANS is difficult to diagnose because it is little known by physicians and most of the cardiologic findings described in this study are common among the healthy pediatric population. Also, ASLOT levels seems not to be predictive of cardiac involvement. Furthermore, the existence of PANDAS as a clinical entity is associated with a group of anti-neuronal autoantibodies found in Sydenham chorea is still controversial. We recommend a complete cardiologic evaluation in those children who meet the PANS/PANDAS diagnostic criteria.

Research paper thumbnail of Risk Factors and Mental Health Promotion Strategies in Children During COVID-19

Risk Factors and Mental Health Promotion Strategies in Children During COVID-19, 2020