Children's Headache Through Drawings: A Narrative Review and a Portrait Gallery.

Headache represents one of the most prevalent and disabling conditions in the pediatric population, with significant repercussions on mental and psychological well-being, as well as on academic achievement and social functioning, ultimately leading to a marked reduction in quality of life. Currently, the diagnosis of headache is based on the clinical criteria of the third edition of the International Classification of Headache Disorders (ICHD-3). However, the characteristics of headache may differ between adults and children, as well as the ability of children to provide a complete description of the pain and associated symptoms.

Diagnosing migraine in children and adolescence using ID migraine: results of an Italian multicenter validation.

Background: Since migraine is the most frequent neurological condition, an early diagnosis is important to limit the impact of the disease on the quality of life. Although migraine diagnosis is based on the International Classification of Headache Disorders 3rd edition (ICHD3) criteria, other briefer questionnaires have been developed, especially for screening purpose. While the three-item ID Migraine has proved useful for migraine diagnosis in adulthood, no validated tools are available for children and adolescents.

The Role of the Autonomic Nervous System in Epilepsy and Migraine: A Narrative Review.

Autonomic symptoms may be local and general clinical manifestations of both epilepsy and migraine caused by the dysfunction of brain areas best known as the central autonomic network. Despite their prevalence, autonomic signs are often misdiagnosed and their treatment is undervalued. This review aims to describe the autonomic manifestations reported during seizures and migraineur attacks according to their presentation, focusing on the role of the central autonomic network (CAN) and on the parasympathetic outflow that often-induced cranial autonomic symptoms (CAS) during migraineur attacks.

A Narrative Review of Visual Hallucinations in Migraine and Epilepsy: Similarities and Differences in Children and Adolescents.

Since the earliest descriptions of the simple visual hallucinations in migraine patients and in subjects suffering from occipital lobe epilepsy, several important issues have arisen in recognizing epileptic seizures of the occipital lobe, which often present with symptoms mimicking migraine. A detailed quantitative and qualitative clinical scrutiny of timing and characteristics of visual impairment can contribute to avoiding mistakes. Differential diagnosis, in children, might be challenging because of the partial clinical, therapeutic, and pathophysiological overlaps between the two diseases that often coexist.

Idiopathic Non-Dental Facial Pain Syndromes in Italian Children: A Clinical Case Series.

The orofacial pain syndromes (OFPs) are a heterogeneous group of syndromes characterized by painful attacks involving the orofacial structures. They may be summarily subdivided into two great categories: (1) orofacial pain mainly attributed to dental disorders such as dentoalveolar and myofascial orofacial pain or temporomandibular joint (TM) pain; (2) orofacial pain mainly attributed to non-dental pain as neuralgias, facial localization of primary headaches or idiopathic orofacial pain. The second group is uncommon, often described by single case reports, can often show overlapping symptoms with the first group, and represents a clinical challenge, carrying the risk of undervaluation and possibly invasive odontoiatric treatment.

Clinical Correlates of Osmophobia in Primary Headaches: An Observational Study in Child Cohorts.

Primary headaches, especially migraines, have a significant impact on physical and mental health, as well as on the scholarly performance and quality of life of children and adolescents. Osmophobia could be a potential diagnostic marker of migraine diagnosis and disability. This multicenter observational cross-sectional study included 645 children, aged 8-15, with a diagnosis of primary headaches.

Evolution of Pediatric Migraine Patients Admitted at an Emergency Department after a 10-Year Follow-Up.

Background: Despite its high prevalence, the clinical course of pediatric migraine has not been fully understood, and previous studies present conflicting results. We present here the findings of a 10-year follow-up study involving children with severe migraine pain admitted to our emergency department. Furthermore, all studies were carried out on selected outpatient clinical case studies.

The Pediatric Trochlear Migraine: Diagnostic and Therapeutic Implications.

Trochlear Migraine has been recently described as the concurrence of strictly unilateral migraine and ipsilateral trochleodynia with relief of migraine after successful treatment of trochleodynia. This disorder has been interpreted as "cluster-tic syndrome" or "seizure-triggered migraine". Trochlear Migraine is unrecognized and rarely described in childhood.

I stay at home with headache. A survey to investigate how the lockdown for COVID-19 impacted on headache in Italian children.

Objective: The present Italian multicenter study aimed at investigating whether the course of primary headache disorders in children and adolescents was changed during the lockdown necessary to contain the COVID-19 emergency in Italy.

Methods: During the lockdown, we submitted an online questionnaire to patients already diagnosed with primary headache disorders. Questions explored the course of headache, daily habits, psychological factors related to COVID-19, general mood and school stress.

Pain Catastrophizing in Childhood Migraine: An Observational Study in a Tertiary Headache Center.

Migraine is the most common cause of primary headache in children leading to a decrease in the quality of life. During the last decade, pain catastrophizing construct became a major focus of interest in the study and treatment of pain. To evaluate pain catastrophizing in episodic and chronic migraine children and adolescents selected in a tertiary headache Center.

Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature.

Objective: Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mild- and late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genotype who experienced an unexpected favorable course.

In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.

Ataxia telangiectasia (AT) is a rare incurable genetic disease caused by biallelic mutations in the Ataxia telangiectasia-mutated gene. Intra-erythrocyte infusion of dexamethasone improves clinical outcomes in AT patients; however, the molecular mechanisms that lead to this improvement remain unknown. Hence, to gain a better understanding of these mechanisms, we assessed the effects of glucocorticoid administration on gene expression in the blood of AT patients.

ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.

Background: Ataxia Telangiectasia (AT) is a rare incurable genetic disease, caused by biallelic mutations in the Ataxia Telangiectasia-Mutated (ATM) gene. Treatment with glucocorticoid analogues has been shown to improve the neurological symptoms that characterize this syndrome. Nevertheless, the molecular mechanism underlying the glucocorticoid action in AT patients is not yet understood.

Development of global rating instruments for pediatric patients with ataxia telangiectasia.

Introduction: Ataxia telangiectasia (AT) is a neurodegenerative disorder with cerebellar and extrapyramidal features. Interventional and epidemiological studies in AT should rely on specific scales which encompass the specific neurological features, as well the early progressive course and the subsequent plateau. The aim of this study was to build a scale of the CGI type (Clinical Global Impression) which is disease specific, as well as to check the feasibility of the ICARS scale for ataxia in this population.

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia.

Objective: Ataxia-telangiectasia (AT) is a rare, devastating neurodegenerative disease presenting with early-onset ataxia, oculocutaneous telangiectasia, immunodeficiency, radiosensitivity, and proneness to cancer. In a previous phase 2 study, we showed that 6 monthly infusions of autologous erythrocytes loaded with dexamethasone (EryDex; EryDel, Urbino, Italy) were effective in improving neurologic impairment in young patients with AT. The present article reports the results of the extension of this study for an additional 24-month period.

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine 'transportopathy' to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified a new cohort of patients with dopamine transporter deficiency syndrome, including, most significantly, atypical presentation later in childhood with a milder disease course. We report the detailed clinical features, molecular genetic findings and in vitro functional investigations undertaken for adult and paediatric cases.

Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.

Background: Ataxia Teleangiectasia [AT] is a rare neurodegenerative disease characterized by early onset ataxia, oculocutaneous teleangiectasias, immunodeficiency, recurrent infections, radiosensitivity and proneness to cancer. No therapies are available for this devastating disease. Recent observational studies in few patients showed beneficial effects of short term treatment with betamethasone.

Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.

Background. The diagnosis of autosomal dominant GTP-cyclohydrolase deficiency relies on the examination of the GCH1 gene and/or pterins and neurotransmitters in CSF. The aim of the study was to assess the diagnostic value, if any, of pterins in urine and blood phenylalanine (Phe) and tyrosine (Tyr) under oral Phe loading test.