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Papers by Anna Legrottaglie

Research paper thumbnail of Association of SCN1A gene polymorphysms with Childhood Refractory Epilepsy

2nd Joint Meeting of Pathology and Laboratory Diagnostics, 2014

Research paper thumbnail of Subjective and Electroencephalographic Sleep Parameters in Children and Adolescents with Autism Spectrum Disorder: A Systematic Review

Journal of Clinical Medicine, 2021

Background: Sleep problems have commonly manifested in children and adolescents with autism spect... more Background: Sleep problems have commonly manifested in children and adolescents with autism spectrum disorder (ASD) with a complex and multifactorial interaction between clinical and etiological components. These disorders are associated with functional impairment, and provoke significant physical and mental affliction. The purpose of this study is to update the existing literature about objective and subjective sleep parameters in children and adolescents with ASD, extrapolating information from polysomnography or sleep electroencephalography, and sleep related questionnaires. Methods: We have conducted a systematic review of case-control studies on this topic, performing a web-based search on PubMed, Scopus and the Web of Science databases according to the Preferred Reporting items for Systematic Review and Meta-analyses (PRISMA) guidelines. Results: Data collected from 20 survey result reports showed that children and adolescents with ASD experienced a higher rate of sleep abnorm...

Research paper thumbnail of Association between SCN1A gene polymorphisms and drug resistant epilepsy in pediatric patients

Seizure, 2018

Single Nucleotide Polymorphisms (SNPs)" could be an important explanation of drug resistance in e... more Single Nucleotide Polymorphisms (SNPs)" could be an important explanation of drug resistance in epilepsy. The aim of this study was to investigate if genetic polymorphisms (SNPs) of the SCN1A gene could influence the response to antiepileptic drugs (AED) and if they could predispose to a drug resistant epilepsy in pediatric patients. Methods: We investigated SNPs in exon and intronic regions of the SCN1A gene in a sample of 120 pediatric patients, in both drug-resistant and drug-responsive patients. Association between polymorphisms and refractory epilepsy were investigated by comparing SNPs in exon and intronic regions between the two groups. The genotypes of each intronic polymorphism in the drug-resistant group was analyzed. Odds ratios and confidence intervals were calculated. Results: None of the SNPs identified in exons of the SCN1A gene were associated with drug-resistance. In the intronic regions, a statistically significant difference was found in the prevalence of three polymorphisms was found between the two patient groups (rs6730344A/C, rs6732655A/T, rs10167228A/ T). The analysis of the genotypes of each intronic polymorphism in the drug-resistant group revealed that the AA and AT genotypes for the rs1962842 polymorphism are associated with an increased risk of developing drug resistance compared to TT genotype. Conclusion: The intronic rs6730344, rs6732655 and rs10167228 polymorphisms of the SCN1A gene are a potential risk factors for drug resistance. AA e AT genotype of the rs1962842 intronic polymorphism also emerged as a risk factor in the drug resistant group. Therefore, polymorphisms of the SCN1A gene could play a role in the response to AED in patients with drug-resistant epilepsy, with important implications for clinical practice.

Research paper thumbnail of A review of executive function deficits in autism spectrum disorder and attention-deficit/hyperactivity disorder

Neuropsychiatric Disease and Treatment, 2016

Executive dysfunction has been shown to be a promising endophenotype in neurodevelopmental disord... more Executive dysfunction has been shown to be a promising endophenotype in neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention-deficit/ hyperactivity disorder (ADHD). This article reviewed 26 studies that examined executive function comparing ASD and/or ADHD children. In light of findings from this review, the ASD + ADHD group appears to share impairment in both flexibility and planning with the ASD group, while it shares the response inhibition deficit with the ADHD group. Conversely, deficit in attention, working memory, preparatory processes, fluency, and concept formation does not appear to be distinctive in discriminating from ASD, ADHD, or ASD + ADHD group. On the basis of neurocognitive endophenotype, the common co-occurrence of executive function deficits seems to reflect an additive comorbidity, rather than a separate condition with distinct impairments.

Research paper thumbnail of Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion

BMC Pediatrics, 2014

Background: Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant ma... more Background: Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra-and interfamilial phenotypic variability. The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located. Case presentation: We describe a 15-year-old-female affected by MLS syndrome and autism spectrum disorder (ASD). ASD has not previously been reported as a component of MLS. Our patient shows a large deletion of 12.9 Mb, involving Xp22.32-p22.2, which encompasses both the HCCS gene and autism X-linked genes. Conclusion: Thus, patients with a large deletion at Xp22 might display MLS with ASD, due to the deletion of contiguous genes, although the highly variable phenotype of these patients could be influenced by several genetic mechanisms, including different tissue-specific X-inactivation and somatic mosaicism.

Research paper thumbnail of Neuropsychiatric impairment in children with Continuous Spikes and Waves during slow Sleep: A long‐term follow-up study

Epilepsy & Behavior, 2012

A long-term follow-up study was conducted in patients affected by Continuous Spikes and Waves dur... more A long-term follow-up study was conducted in patients affected by Continuous Spikes and Waves during slow Sleep (CSWS) to evaluate the long-term outcomes. Twenty-five patients (19 males, 6 females), from 2 to 16 years of age (mean age 6 years±3 SD), affected by CSWS syndrome, as defined by the International League Against Epilepsy (ILAE, 1989), were enrolled and followed for 11 years (mean duration of follow-up: 3.9 years). At the time of the appearance of CSWS, one or more neuropsychiatric disorders were present in 96% of the patients, such as behavioral problems in 54%, mental retardation in 37.5%, learning disabilities in 33%, developmental coordination disorder in 17%, language disorder in 12.5%, and pervasive developmental disorder in 8%. During the follow-up, neuropsychiatric dysfunctions remained unaltered in 52% of the patients, worsened in 24%, and improved in only 24%. Our data confirm that CSWS may be associated with a broad spectrum of neuropsychiatric disorders and may promote their worsening over time. Moreover, the findings cannot be generalized to all cases of children with CSWS because most of the children in the subgroups with no change in outcome and worse outcome had symptomatic CSWS.

Research paper thumbnail of Ophthalmoplegic migraine: Migraine or oculomotor neuropathy?

Cephalalgia, 2012

Background Ophthalmoplegic migraine (OM) is a rare condition characterized by the association of ... more Background Ophthalmoplegic migraine (OM) is a rare condition characterized by the association of headaches and an oculomotor nerve palsy. The third cranial nerve is commonly involved in recurrent attacks, whereas involvement of the sixth and fourth nerves is uncommon. It is still debated whether an uncontrolled migraine or an oculomotor neuropathy may be the primary cause of ophthalmoplegic migraine. Cases We report two patients affected by OM with normal magnetic resonance imaging findings and a history of uncontrolled migraine before an attack of OM. Conclusion The cases reported allow us to hypothesize that OM may be considered a form of migraine rather than a cranial neuralgia. It is possible that different factors such as inflammatory or structural factors, may represent a vulnerability of the nerve during a severe migraine attack causing ophthalmoplegia.

Research paper thumbnail of Subjective and Electroencephalographic Sleep Parameters in Children and Adolescents with Autism Spectrum Disorder: A Systematic Review

Journal of Clinical Medicine, 2021

Background: Sleep problems have commonly manifested in children and adolescents with autism spect... more Background: Sleep problems have commonly manifested in children and adolescents with autism spectrum disorder (ASD) with a complex and multifactorial interaction between clinical and etiological components. These disorders are associated with functional impairment, and provoke significant physical and mental affliction. The purpose of this study is to update the existing literature about objective and subjective sleep parameters in children and adolescents with ASD, extrapolating information from polysomnography or sleep electroencephalography, and sleep related questionnaires. Methods: We have conducted a systematic review of case-control studies on this topic, performing a web-based search on PubMed, Scopus and the Web of Science databases according to the Preferred Reporting items for Systematic Review and Meta-analyses (PRISMA) guidelines. Results: Data collected from 20 survey result reports showed that children and adolescents with ASD experienced a higher rate of sleep abnorm...

Research paper thumbnail of Association of SCN1A gene polymorphysms with Childhood Refractory Epilepsy

2nd Joint Meeting of Pathology and Laboratory Diagnostics, 2014

Research paper thumbnail of Subjective and Electroencephalographic Sleep Parameters in Children and Adolescents with Autism Spectrum Disorder: A Systematic Review

Journal of Clinical Medicine, 2021

Background: Sleep problems have commonly manifested in children and adolescents with autism spect... more Background: Sleep problems have commonly manifested in children and adolescents with autism spectrum disorder (ASD) with a complex and multifactorial interaction between clinical and etiological components. These disorders are associated with functional impairment, and provoke significant physical and mental affliction. The purpose of this study is to update the existing literature about objective and subjective sleep parameters in children and adolescents with ASD, extrapolating information from polysomnography or sleep electroencephalography, and sleep related questionnaires. Methods: We have conducted a systematic review of case-control studies on this topic, performing a web-based search on PubMed, Scopus and the Web of Science databases according to the Preferred Reporting items for Systematic Review and Meta-analyses (PRISMA) guidelines. Results: Data collected from 20 survey result reports showed that children and adolescents with ASD experienced a higher rate of sleep abnorm...

Research paper thumbnail of Association between SCN1A gene polymorphisms and drug resistant epilepsy in pediatric patients

Seizure, 2018

Single Nucleotide Polymorphisms (SNPs)" could be an important explanation of drug resistance in e... more Single Nucleotide Polymorphisms (SNPs)" could be an important explanation of drug resistance in epilepsy. The aim of this study was to investigate if genetic polymorphisms (SNPs) of the SCN1A gene could influence the response to antiepileptic drugs (AED) and if they could predispose to a drug resistant epilepsy in pediatric patients. Methods: We investigated SNPs in exon and intronic regions of the SCN1A gene in a sample of 120 pediatric patients, in both drug-resistant and drug-responsive patients. Association between polymorphisms and refractory epilepsy were investigated by comparing SNPs in exon and intronic regions between the two groups. The genotypes of each intronic polymorphism in the drug-resistant group was analyzed. Odds ratios and confidence intervals were calculated. Results: None of the SNPs identified in exons of the SCN1A gene were associated with drug-resistance. In the intronic regions, a statistically significant difference was found in the prevalence of three polymorphisms was found between the two patient groups (rs6730344A/C, rs6732655A/T, rs10167228A/ T). The analysis of the genotypes of each intronic polymorphism in the drug-resistant group revealed that the AA and AT genotypes for the rs1962842 polymorphism are associated with an increased risk of developing drug resistance compared to TT genotype. Conclusion: The intronic rs6730344, rs6732655 and rs10167228 polymorphisms of the SCN1A gene are a potential risk factors for drug resistance. AA e AT genotype of the rs1962842 intronic polymorphism also emerged as a risk factor in the drug resistant group. Therefore, polymorphisms of the SCN1A gene could play a role in the response to AED in patients with drug-resistant epilepsy, with important implications for clinical practice.

Research paper thumbnail of A review of executive function deficits in autism spectrum disorder and attention-deficit/hyperactivity disorder

Neuropsychiatric Disease and Treatment, 2016

Executive dysfunction has been shown to be a promising endophenotype in neurodevelopmental disord... more Executive dysfunction has been shown to be a promising endophenotype in neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention-deficit/ hyperactivity disorder (ADHD). This article reviewed 26 studies that examined executive function comparing ASD and/or ADHD children. In light of findings from this review, the ASD + ADHD group appears to share impairment in both flexibility and planning with the ASD group, while it shares the response inhibition deficit with the ADHD group. Conversely, deficit in attention, working memory, preparatory processes, fluency, and concept formation does not appear to be distinctive in discriminating from ASD, ADHD, or ASD + ADHD group. On the basis of neurocognitive endophenotype, the common co-occurrence of executive function deficits seems to reflect an additive comorbidity, rather than a separate condition with distinct impairments.

Research paper thumbnail of Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion

BMC Pediatrics, 2014

Background: Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant ma... more Background: Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra-and interfamilial phenotypic variability. The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located. Case presentation: We describe a 15-year-old-female affected by MLS syndrome and autism spectrum disorder (ASD). ASD has not previously been reported as a component of MLS. Our patient shows a large deletion of 12.9 Mb, involving Xp22.32-p22.2, which encompasses both the HCCS gene and autism X-linked genes. Conclusion: Thus, patients with a large deletion at Xp22 might display MLS with ASD, due to the deletion of contiguous genes, although the highly variable phenotype of these patients could be influenced by several genetic mechanisms, including different tissue-specific X-inactivation and somatic mosaicism.

Research paper thumbnail of Neuropsychiatric impairment in children with Continuous Spikes and Waves during slow Sleep: A long‐term follow-up study

Epilepsy & Behavior, 2012

A long-term follow-up study was conducted in patients affected by Continuous Spikes and Waves dur... more A long-term follow-up study was conducted in patients affected by Continuous Spikes and Waves during slow Sleep (CSWS) to evaluate the long-term outcomes. Twenty-five patients (19 males, 6 females), from 2 to 16 years of age (mean age 6 years±3 SD), affected by CSWS syndrome, as defined by the International League Against Epilepsy (ILAE, 1989), were enrolled and followed for 11 years (mean duration of follow-up: 3.9 years). At the time of the appearance of CSWS, one or more neuropsychiatric disorders were present in 96% of the patients, such as behavioral problems in 54%, mental retardation in 37.5%, learning disabilities in 33%, developmental coordination disorder in 17%, language disorder in 12.5%, and pervasive developmental disorder in 8%. During the follow-up, neuropsychiatric dysfunctions remained unaltered in 52% of the patients, worsened in 24%, and improved in only 24%. Our data confirm that CSWS may be associated with a broad spectrum of neuropsychiatric disorders and may promote their worsening over time. Moreover, the findings cannot be generalized to all cases of children with CSWS because most of the children in the subgroups with no change in outcome and worse outcome had symptomatic CSWS.

Research paper thumbnail of Ophthalmoplegic migraine: Migraine or oculomotor neuropathy?

Cephalalgia, 2012

Background Ophthalmoplegic migraine (OM) is a rare condition characterized by the association of ... more Background Ophthalmoplegic migraine (OM) is a rare condition characterized by the association of headaches and an oculomotor nerve palsy. The third cranial nerve is commonly involved in recurrent attacks, whereas involvement of the sixth and fourth nerves is uncommon. It is still debated whether an uncontrolled migraine or an oculomotor neuropathy may be the primary cause of ophthalmoplegic migraine. Cases We report two patients affected by OM with normal magnetic resonance imaging findings and a history of uncontrolled migraine before an attack of OM. Conclusion The cases reported allow us to hypothesize that OM may be considered a form of migraine rather than a cranial neuralgia. It is possible that different factors such as inflammatory or structural factors, may represent a vulnerability of the nerve during a severe migraine attack causing ophthalmoplegia.

Research paper thumbnail of Subjective and Electroencephalographic Sleep Parameters in Children and Adolescents with Autism Spectrum Disorder: A Systematic Review

Journal of Clinical Medicine, 2021

Background: Sleep problems have commonly manifested in children and adolescents with autism spect... more Background: Sleep problems have commonly manifested in children and adolescents with autism spectrum disorder (ASD) with a complex and multifactorial interaction between clinical and etiological components. These disorders are associated with functional impairment, and provoke significant physical and mental affliction. The purpose of this study is to update the existing literature about objective and subjective sleep parameters in children and adolescents with ASD, extrapolating information from polysomnography or sleep electroencephalography, and sleep related questionnaires. Methods: We have conducted a systematic review of case-control studies on this topic, performing a web-based search on PubMed, Scopus and the Web of Science databases according to the Preferred Reporting items for Systematic Review and Meta-analyses (PRISMA) guidelines. Results: Data collected from 20 survey result reports showed that children and adolescents with ASD experienced a higher rate of sleep abnorm...