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Massimiliano Valeriani - One of the best experts on this subject based on the ideXlab platform.
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cyclic vomiting syndrome and Benign Paroxysmal Torticollis are associated with a high risk of developing primary headache a longitudinal study
Cephalalgia, 2019Co-Authors: Romina Moavero, Federico Vigevano, Massimiliano Valeriani, Laura Papetti, Maria Chiara Ernucci, Caterina Cenci, Michela Ada Noris Ferilli, Giorgia SforzaAbstract:Background and aimEpisodic syndromes that may be associated with migraine are a group of disorders affecting patients with migraine or with an increased risk of presenting it, and likely represent ...
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O016. Does migraine follow Benign Paroxysmal Torticollis
Journal of Headache and Pain, 2015Co-Authors: Maria Chiara Bernucci, Roberto Frusciante, Alessandro Capuano, Samuela Tarantino, Federico Vigevano, Massimiliano ValerianiAbstract:Background Migraine equivalents are clinical conditions which often involve children who do not complain of headache. They include abdominal migraine, motion sickness, limb pain, cyclical vomiting, Benign Paroxysmal vertigo, and Benign Paroxysmal Torticollis (BPT). The aim of our study was to investigate whether children referred to us for BPT have developed migraine at a distance from our first observation.
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Non headache phenotypes in pediatric age
Journal of Headache and Pain, 2015Co-Authors: Massimiliano ValerianiAbstract:Although headache represents the main symptom of migraine, it is a very complex disease and can be manifested by a number of other symptoms. This is particularly evident in pediatric age where clinical conditions different from headache can involve children who are already suffering or will suffer from migrainous headache. In the International Classification of Headache Disorders 3rd edition (ICHD-III), these conditions, occurring as repeated attacks with complete remission between episodes, are defined as “Episodic syndromes which may be associated with migraine”. They include “Cyclical vomiting syndrome” (1.6.1.1), “Abdominal migraine” (1.6.1.2), “Benign Paroxysmal vertigo” (1.6.2) and “Benign Paroxysmal Torticollis” (1.6.3). Though not included in the ICHD-III, other clinical entities, such as motion sickness and limb pain, have been associated with migraine. In order to underline the strict relationship between all these non headache symptoms and migraine, they are also known as “migraine equivalents”. We investigated the migraine equivalents prevalence in a large population of children referred to our pediatric headache centre[1]. A total of 1,134 of children/adolescents (73.2% with migraine and 26.8% with tension-type headache) were included. We found that migraine equivalents could equally involve children with either migraine or tension-type headache and that high frequency of headache attacks correlated with migraine equivalents presence. It was concluded that migraine equivalents should not be considered merely as headache precursors, but they are part of the migrainous syndrome. In a more recent study, we showed that anxiety and somatization levels were higher in migraine children with migraine equivalents, as compared to those without migraine equivalents[2]. Our findings, together with those issued from the literature, suggest that in children and adolescents migraine equivalents should be considered as symptoms of the migrainous disease, thus their inclusion among the diagnostic criteria for pediatric migraine/tension-type headache would be hopeful.
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Migraine Equivalents as Part of Migraine Syndrome in Childhood
Pediatric Neurology, 2014Co-Authors: Samuela Tarantino, Alessandro Capuano, Federico Vigevano, Roberto Torriero, Monica Citti, Catello Vollono, Simonetta Gentile, Massimiliano ValerianiAbstract:Abstract Background Migraine equivalents are common clinical conditions without a headache component, occurring as repeated episodes with complete remission between episodes. They include abdominal migraine, cyclical vomiting, Benign Paroxysmal vertigo, and Benign Paroxysmal Torticollis. Other clinical entities, such as motion sickness and limb pain have been associated with migraine. We aimed to investigate the prevalence of migraine equivalents in a large population of children referred to a pediatric headache center and to analyze the possible relationship between migraine equivalents and headache features. Methods A total of 1134 of children/adolescents (73.2% with migraine and 26.8% with tension-type headache) were included. Patients were divided into two groups according to the episode frequency (high and low). Pain intensity was rated on a three-level graduate scale (mild, moderate, and severe pain). Results Migraine equivalents were reported in 70.3% of patients. Abdominal migraine (48.9%), limb pain (43.9%), and motion sickness (40.5%) were the most common migraine equivalents. Although headache type (migraine or tension-type headache) did not correlate with migraine equivalents presence (χ 2 = 33.2; P = 0.27), high frequency of headache episodes correlated with the occurrence of migraine equivalents. Moreover, migraine equivalents indicated a protective role for some accompanying feature of the headache episode. Conclusions Our results suggest that migraine equivalents should not be considered merely as headache precursors, but they as part of the migrainous syndrome. Thus, their inclusion among the diagnostic criteria for pediatric migraine/tension-type headache is useful.
Tally Lerman-sagie - One of the best experts on this subject based on the ideXlab platform.
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Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2015Co-Authors: Lubov Blumkin, Esther Leshinsky-silver, Marina Michelson, Ayelet Zerem, Sara Kivity, Dorit Lev, Tally Lerman-sagieAbstract:Abstract Objective Paroxysmal tonic upward gaze was initially described as a Benign phenomenon with negative investigations and eventual complete resolution of symptoms. Later publications demonstrated that a similar clinical picture may arise from structural brain lesions, channelopathies, neurotransmitter disorders, and epileptic seizures. CACNA1A related disorders manifest as a wide spectrum of Paroxysmal neurological disorders: episodic ataxia 2, hemiplegic migraine, Benign Paroxysmal Torticollis of infancy, and Paroxysmal vertigo. Paroxysmal tonic upward gaze as a phenomenon in patients with mutations in the CACNA1A gene has only been reported once. Methods We describe three patients with multiple episodes of Paroxysmal tonic upward gaze that appeared during the first months of life. In addition the patients demonstrated motor and language delay and cerebellar ataxia. A sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the other patients were performed. Results Sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the two other patients revealed 3 different de-novo mutations in the CACNA1A gene. Conclusion CACNA1A mutations should be evaluated in infants and young children with Paroxysmal tonic upgaze especially if associated with developmental delay, cerebellar signs, and other types of Paroxysmal event.
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P145 – 2410: Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A
European Journal of Paediatric Neurology, 2015Co-Authors: Lubov Blumkin, Esther Leshinsky-silver, Marina Michelson, Ayelet Zerem, Sara Kivity, Dorit Lev, Tally Lerman-sagieAbstract:Objective Paroxysmal tonic upward gaze was initially described as a Benign phenomenon with negative investigations and eventual complete resolution of symptoms. Later publications demonstrated that a similar clinical picture may arise from structural brain lesions, channelopathies, neurotransmitter disorders, and epileptic seizures. CACNA1A related disorders manifest as a wide spectrum of Paroxysmal neurological disorders: episodic ataxia 2, hemiplegic migraine, Benign Paroxysmal Torticollis of infancy, and Paroxysmal vertigo. Paroxysmal tonic upward gaze as a phenomenon in patients with mutations in the CACNA1A gene has only been reported once. Methods We describe three patients with multiple episodes of Paroxysmal tonic upward gaze that appeared during the first months of life. In addition the patients demonstrated motor and language delay and cerebellar ataxia. A sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the other patients were performed. Results Sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the two other patients revealed 3 different de-novo mutations in the CACNA1A gene. Conclusion CACNA1A mutations should be evaluated in infants and young children with Paroxysmal tonic upgaze especially if associated with developmental delay, cerebellar signs, and other types of Paroxysmal events.
Agathe Roubertie - One of the best experts on this subject based on the ideXlab platform.
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Cognitive impairment in children with CACNA 1A mutations
Developmental Medicine and Child Neurology, 2020Co-Authors: Veronique Humbertclaude, Benjamin Krams, Nicolas Nagot, Florence Riant, Agathe Roubertie, Valérie Zimmermann, Daniel Annequin, Bernard Echenne, Elisabeth Tournier-lasserve, Chrystelle BonnemainsAbstract:Aim: To describe the clinico‐radiological phenotype of children with a CACNA 1A mutation and to precisely evaluate their learning ability and cognitive status. Method: Children between the ages of 3 and 18 years harboring a pathogenic CACNA 1A mutation associated with episodic ataxia, hemiplegic migraine, Benign Paroxysmal Torticollis, Benign Paroxysmal vertigo, or Benign Paroxysmal tonic upgaze, were enrolled in this cross‐sectional study. Data concerning psychomotor development, academic performance, educational management, clinical examination at inclusion, and brain imaging were collected. Cognitive assessment was performed using age‐standardized scales. Results: Eighteen patients (nine males, nine females; mean age at inclusion: 11y 7mo [SD 4y 5mo; range 3y–17y 11mo]) from 14 families were enrolled. Eleven patients displayed the coexistence or consecutive occurrence of more than one type of episodic event. Nine patients exhibited abnormal neurological examination at inclusion. Brain magnetic resonance imaging (MRI ) showed cerebellar atrophy in five patients. Psychomotor development was delayed in nine patients and academic difficulties were reported by the parents in 15 patients; nine patients were in special education. Impairment of intellectual function was assessed in six of the 12 patients with interpretable Full‐scale IQ scores and was more frequent when cerebellar atrophy was present on MRI . Interpretation: Cognitive impairment is commonly associated with CACNA 1A mutations. We suggest that CACNA 1A ‐associated phenotype should be considered a neurodevelopmental disorder.
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Cognitive impairment in children with CACNA1A mutations
Developmental medicine and child neurology, 2019Co-Authors: Veronique Humbertclaude, Benjamin Krams, Nicolas Nagot, Florence Riant, Valérie Zimmermann, Daniel Annequin, Bernard Echenne, Elisabeth Tournier-lasserve, Agathe RoubertieAbstract:Aim To describe the clinico-radiological phenotype of children with a CACNA1A mutation and to precisely evaluate their learning ability and cognitive status. Method Children between the ages of 3 and 18 years harboring a pathogenic CACNA1A mutation associated with episodic ataxia, hemiplegic migraine, Benign Paroxysmal Torticollis, Benign Paroxysmal vertigo, or Benign Paroxysmal tonic upgaze, were enrolled in this cross-sectional study. Data concerning psychomotor development, academic performance, educational management, clinical examination at inclusion, and brain imaging were collected. Cognitive assessment was performed using age-standardized scales. Results Eighteen patients (nine males, nine females; mean age at inclusion: 11y 7mo [SD 4y 5mo; range 3y-17y 11mo]) from 14 families were enrolled. Eleven patients displayed the coexistence or consecutive occurrence of more than one type of episodic event. Nine patients exhibited abnormal neurological examination at inclusion. Brain magnetic resonance imaging (MRI) showed cerebellar atrophy in five patients. Psychomotor development was delayed in nine patients and academic difficulties were reported by the parents in 15 patients; nine patients were in special education. Impairment of intellectual function was assessed in six of the 12 patients with interpretable Full-scale IQ scores and was more frequent when cerebellar atrophy was present on MRI. Interpretation Cognitive impairment is commonly associated with CACNA1A mutations. We suggest that CACNA1A-associated phenotype should be considered a neurodevelopmental disorder. What this paper adds Cognitive disabilities and academic difficulties are common in children with CACNA1A mutations associated with episodic syndromes. Cognitive function ranges from normal to moderate intellectual disorder in wheelchair-dependent children. Patients with vermian atrophy are at a higher risk of cognitive impairment.
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Benign Paroxysmal Torticollis Benign Paroxysmal vertigo and Benign tonic upward gaze are not Benign disorders
Developmental Medicine & Child Neurology, 2018Co-Authors: Veronique Humbertclaude, Benjamin Krams, Erika Nogue, Nicolas Nagot, D Annequin, B Tourniaire, Elisabeth Tournierlasserve, Florence Riant, Agathe RoubertieAbstract:AIM Benign Paroxysmal Torticollis (BPT), Benign Paroxysmal vertigo (BPV), and Benign tonic upward gaze (BTU) are characterized by transient and recurrent episodes of neurological manifestations. The purpose of this study was to analyse the clinical relationships between these syndromes, associated comorbidities, and genetic bases. METHOD In this cross-sectional study, clinical data of patients with BPT, BPV, or BTU were collected with a focus on developmental achievements, learning abilities, and rehabilitation. Neuropsychological assessment and genetic testing were performed. RESULTS Fifty patients (median age at inclusion 6y) were enrolled. Psychomotor delay, abnormal neurological examination, and low or borderline IQ were found in 19%, 32%, and 26% of the patients respectively. Cognitive dysfunction was present in 27% of the patients. CACNA1A gene mutation was identified in eight families, and KCNA1 and FGF14 mutation in one family respectively. The identification of a CACNA1A mutation was significantly associated with BTU (p=0.03) and with cognitive dysfunction (p=0.01). Patients with BPV were less likely to have cognitive dysfunction. INTERPRETATION Children with BPT, BPV, or BTU are at high risk of impaired psychomotor and cognitive development. These syndromes should not be regarded as Benign and should be considered as part of the spectrum of a neurodevelopmental disorder. WHAT THIS PAPER ADDS OK Patients with Benign Paroxysmal Torticollis (BPT), Benign Paroxysmal vertigo (BPV), and Benign tonic upward gaze (BTU) have an increased risk of psychomotor delay. These patients also have an increased risk of abnormal neurological examination and cognitive dysfunction. Gene mutations, especially in CACNA1A, were identified in 21% of the families. BPT, BTU, and BPV should not be regarded as Benign. BPT, BTU, and BPV should be considered as part of the spectrum of a neurodevelopmental disorder.
Lubov Blumkin - One of the best experts on this subject based on the ideXlab platform.
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Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2015Co-Authors: Lubov Blumkin, Esther Leshinsky-silver, Marina Michelson, Ayelet Zerem, Sara Kivity, Dorit Lev, Tally Lerman-sagieAbstract:Abstract Objective Paroxysmal tonic upward gaze was initially described as a Benign phenomenon with negative investigations and eventual complete resolution of symptoms. Later publications demonstrated that a similar clinical picture may arise from structural brain lesions, channelopathies, neurotransmitter disorders, and epileptic seizures. CACNA1A related disorders manifest as a wide spectrum of Paroxysmal neurological disorders: episodic ataxia 2, hemiplegic migraine, Benign Paroxysmal Torticollis of infancy, and Paroxysmal vertigo. Paroxysmal tonic upward gaze as a phenomenon in patients with mutations in the CACNA1A gene has only been reported once. Methods We describe three patients with multiple episodes of Paroxysmal tonic upward gaze that appeared during the first months of life. In addition the patients demonstrated motor and language delay and cerebellar ataxia. A sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the other patients were performed. Results Sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the two other patients revealed 3 different de-novo mutations in the CACNA1A gene. Conclusion CACNA1A mutations should be evaluated in infants and young children with Paroxysmal tonic upgaze especially if associated with developmental delay, cerebellar signs, and other types of Paroxysmal event.
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P145 – 2410: Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A
European Journal of Paediatric Neurology, 2015Co-Authors: Lubov Blumkin, Esther Leshinsky-silver, Marina Michelson, Ayelet Zerem, Sara Kivity, Dorit Lev, Tally Lerman-sagieAbstract:Objective Paroxysmal tonic upward gaze was initially described as a Benign phenomenon with negative investigations and eventual complete resolution of symptoms. Later publications demonstrated that a similar clinical picture may arise from structural brain lesions, channelopathies, neurotransmitter disorders, and epileptic seizures. CACNA1A related disorders manifest as a wide spectrum of Paroxysmal neurological disorders: episodic ataxia 2, hemiplegic migraine, Benign Paroxysmal Torticollis of infancy, and Paroxysmal vertigo. Paroxysmal tonic upward gaze as a phenomenon in patients with mutations in the CACNA1A gene has only been reported once. Methods We describe three patients with multiple episodes of Paroxysmal tonic upward gaze that appeared during the first months of life. In addition the patients demonstrated motor and language delay and cerebellar ataxia. A sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the other patients were performed. Results Sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the two other patients revealed 3 different de-novo mutations in the CACNA1A gene. Conclusion CACNA1A mutations should be evaluated in infants and young children with Paroxysmal tonic upgaze especially if associated with developmental delay, cerebellar signs, and other types of Paroxysmal events.
Amy A. Gelfand - One of the best experts on this subject based on the ideXlab platform.
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Benign Paroxysmal Torticollis: phenotype, natural history, and quality of life
Pediatric Research, 2021Co-Authors: Kaitlin A. Greene, Marta San Luciano, William Qubty, Samantha L. Irwin, Barbara Grimes, Amy A. GelfandAbstract:Background Benign Paroxysmal Torticollis (BPT) is characterized by attacks of head tilt associated with vomiting, irritability, and/or ataxia in early childhood. BPT is associated with migraine but risk factors are unknown. Impact on quality of life is also unknown. Methods Parents/caregivers of children with ongoing or resolved BPT participated in telephone interviews ( n = 73). Those with ongoing BPT completed the Infant Toddler Quality of Life questionnaire (ITQoL). Results Median age of children at the time of interview was 2.9 years (range 0.25–23). BPT was ongoing in 52% ( n = 38). Nineteen percent ( n = 14) developed migraine (median age 9.25 years, range 2.5–23) and 63% ( n = 46) developed another episodic syndrome associated with migraine. Proportion of patients who developed migraine was higher among those with certain migrainous symptoms during BPT attacks vs. those without: phonophobia (58 vs. 21%, p = 0.02), photophobia and phonophobia (55 vs. 23%, p = 0.05), and photophobia, phonophobia, and motion sensitivity (60 vs. 22%, p = 0.02). ITQoL results showed significant impact of BPT on quality of life. Conclusions Children with BPT may develop migraine or other episodic syndromes associated with migraine. Presence of migrainous features during BPT episodes may increase likelihood of developing migraine. Though characterized as “Benign,” BPT can significantly impact children and families. Impact Benign Paroxysmal Torticollis (BPT) is a rare condition of early childhood characterized by episodes of head tilt associated with vomiting, irritability, ataxia, pallor, and/or malaise. This cohort study describes the phenotypic spectrum of BPT, variable treatment, natural history and association with migraine, and impact on development and quality of life. Children with BPT may go on to develop migraine or episodic syndromes that may be associated with migraine; presence of migrainous features during attacks may increase odds of developing migraine. BPT can have significant impact on quality of life, demonstrated by findings from the Infant Toddler Quality of Life questionnaire.
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Episodic syndromes of childhood associated with migraine.
Current opinion in neurology, 2018Co-Authors: Amy A. GelfandAbstract:Purpose of reviewThis review covers recent advances in our understanding of episodic syndromes that may be associated with migraine in children and adolescents, as well as what is known about the treatment of these disorders.Recent findingsThe episodic syndromes include Benign Paroxysmal Torticollis
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Episodic Syndromes That May Be Associated With Migraine: A.K.A. "the Childhood Periodic Syndromes".
Headache, 2015Co-Authors: Amy A. GelfandAbstract:Previously called "childhood periodic syndromes that are commonly precursors of migraine" in International Headache Classification of Headache Disorders (ICHD)-II, these disorders were renamed "episodic syndromes that may be associated with migraine" in ICHD-III beta. The specific disorders reviewed in this article include: Benign Paroxysmal Torticollis, Benign Paroxysmal vertigo, abdominal migraine, and cyclical vomiting syndrome, as well as infantile colic, which was recently added under the appendix section in ICHD-III beta.
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Migraine and childhood periodic syndromes in children and adolescents.
Current opinion in neurology, 2013Co-Authors: Amy A. GelfandAbstract:Purpose of review This review covers recent advances in our understanding of migraine and childhood periodic syndromes in children and adolescents, as well as the treatment of these disorders. Recent findings The childhood periodic syndromes include Benign Paroxysmal Torticollis, Benign Paroxysmal vertigo, abdominal migraine, and cyclic vomiting syndrome. Recent research suggests infant colic may also fit into this category. Migraine headache is common in children and adolescents, and chronic migraine effects 0.8-1.8% of adolescents and 0.6% of children. Two triptans are now FDA-approved for the acute treatment of migraine in pediatric patients. For preventive therapy, a number of medications have been studied and a major national trial is ongoing. Summary Childhood periodic syndromes are thought to be early life expressions of those genes that later in life are expressed as migraine headache. Future research into mechanisms of identifying children with these disorders prior to extensive and often invasive testing would be of benefit to these families and children. Migraine-specific therapies are now approved for the acute treatment of migraine in pediatric patients. Preventive migraine therapy is indicated in appropriate patients, although which medications are most effective in children is an area of active research.