Benign paroxysmal torticollis: phenotype, natural history, and quality of life

Greene, Kaitlin; Lu, Vivien; Luciano, Marta San; Qubty, William; Irwin, Samantha; Grimes, Barbara; Gelfand, Amy A.

doi:10.1038/s41390-020-01309-1

Cited by 9 publications

(21 citation statements)

References 23 publications

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“…Due to the cyclical nature of the episodes, we considered episodic syndromes of childhood associated with migraine, including abdominal migraine, benign paroxysmal vertigo, and cyclic vomiting syndrome. These cyclical episodes may include irritability, photophobia, phonophobia, decreased oral intake, vomiting, and/or dystonic posturing, and a reduced quality of life [ 16 , 17 ]. The episodes often include premonitory symptoms and a postdrome phase, similar to episodes in the NECFM cohort [ 18 ].…”

Section: Discussionmentioning

confidence: 99%

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

Schoch,

McConkie-Rosell,

Walley

et al. 2023

Orphanet J Rare Dis

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Background A recurrent de novo variant (c.892C>T) in NACC1 causes a neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM). An unusual and consistently reported feature is episodic extreme irritability and inconsolability. We now characterize these episodes, their impact on the family, and ascertain treatments that may be effective. Parents of 14 affected individuals provided narratives describing the irritability episodes, including triggers, behavioral and physiological changes, and treatments. Simultaneously, parents of 15 children completed the Non-communicating Children’s Pain Checklist-Revised (NCCPC-R), a measure to assess pain in non-verbal children. Results The episodes of extreme irritability include a prodromal, peak, and resolving phase, with normal periods in between. The children were rated to have extreme pain-related behaviors on the NCCPC-R scale, although it is unknown whether the physiologic changes described by parents are caused by pain. Attempted treatments included various classes of medications, with psychotropic and sedative medications being most effective (7/15). Nearly all families (13/14) describe how the episodes have a profound impact on their lives. Conclusions NECFM caused by the recurrent variant c.892C>T is associated with a universal feature of incapacitating episodic irritability of unclear etiology. Further understanding of the pathophysiology can lead to more effective therapeutic strategies.

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Section: Discussionmentioning

confidence: 99%

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

Schoch,

McConkie-Rosell,

Walley

et al. 2023

Orphanet J Rare Dis

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“…86 The risk of developing migraine may depend on which syndrome the child presents with, with estimates varying from approximately 3% to 70%. [86][87][88] Abdominal migraine may confer the highest risk, with a probability of approximately 70% of developing migraine later in life. 86 Although many patients will outgrow their episodic syndrome and later present with migraine, it is also not uncommon that the episodic syndrome may persist in tandem with the onset of migraine.…”

Section: Migrainementioning

confidence: 99%

“…The prevalence of episodic syndromes that may be associated with migraine has been estimated at approximately 5% in children 86 . The risk of developing migraine may depend on which syndrome the child presents with, with estimates varying from approximately 3% to 70% 86-88 . Abdominal migraine may confer the highest risk, with a probability of approximately 70% of developing migraine later in life 86 .…”

Section: Making a Primary Headache Diagnosismentioning

confidence: 99%

Headache in Children and Adolescents

Orr

2024

CONTINUUM: Lifelong Learning in Neurology

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OBJECTIVE This article reviews the assessment of children and adolescents presenting with headache, provides an overview of primary headache disorders, and reviews evidence-based management of headache in this age group. LATEST DEVELOPMENTS In the last few years, new epidemiological data have shed light on less common pediatric headache disorders (eg, pediatric trigeminal autonomic cephalalgias) and psychosocial risk factors associated with primary headache disorders in children and adolescents. There has also recently been a substantial increase in interventions that target the calcitonin gene-related peptide pathway and that treat primary headache disorders using noninvasive neuromodulation. Although these interventions have primarily been studied in adults, there is emerging evidence of their use in the pediatric population. ESSENTIAL POINTS Primary headache disorders are very common in youth, and the most commonly encountered headache diagnosis in neurology practice is migraine, which affects approximately 10% of children and adolescents. Diagnosing and effectively treating primary headache disorders before adulthood may have a sustained impact on the patient by improving long-term headache and mental health outcomes, thereby significantly reducing the burden of disability over time. There are several available and emerging acute and preventive interventions for youth with primary headache disorders, and treatment decisions should be made in the context of available evidence using a shared decision-making approach.

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“…En la misma línea y controversia se pueden administrar la ciproheptadina, la acetazolamida y la difenhidramina. Una dieta equilibrada, un ambiente favorable y tratamientos fisioterapéuticos y osteópatas, pueden ayudar a disminuir la frecuencia de los episodios [28].…”

Section: Tortícolis Paroxística Benignaunclassified

Síndromes episódicos que pueden asociarse a migraña

Chaves Araujo,

Fernández-Nava,

Villaoslada-Fuentes

et al. 2023

ORL

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Introducción y objetivo: Los síndromes episódicos que pueden asociarse a migraña son una subcategoría del diagnóstico de migraña dentro de la Classification of Headache Disorders (2018). Nuestro objetivo es la revisión de la bibliografía para la creación de un marco teórico actualizado, que defina estos trastornos y nos ayude en su identificación, diagnóstico y tratamiento, durante la práctica clínica. Método: Esta es una revisión bibliográfica narrativa, se ha utilizado PubMed como base de datos para la búsqueda, usando de guía la Classification of Headache Disorders (2018) y el consenso de criterios diagnósticos para la migraña vestibular y el vértigo recurrente de la infancia de la Sociedad Bárány. Conclusiones: Las patologías descritas se dividen en tres grupos: trastornos gastrointestinales recurrentes (síndrome de vómitos cíclicos y migraña abdominal), vértigo paroxístico benigno de la infancia y tortícolis paroxística benigna de la infancia. En general son cuadros de evolución benigna y autolimitada. Es necesario unificar los criterios y protocolos diagnóstico en todas estas entidades.

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Benign paroxysmal torticollis: phenotype, natural history, and quality of life

Cited by 9 publications

References 23 publications

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

Headache in Children and Adolescents

Síndromes episódicos que pueden asociarse a migraña

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