Complex movement disorders at disease onset in childhood narcolepsy with cataplexy

Plazzi, Giuseppe; Pizza, Fabio; Palaia, Vincenzo; Franceschini, Christian; Poli, Francesca; Moghadam, Keivan Kaveh; Cortelli, Pietro; Nobili, Lino; Bruni, Oliviero; Dauvilliers, Yves; Li, Gang; Edwards, Mark J.; Mignot, Emmanuel; Bhatia, Kailash P.

doi:10.1093/brain/awr244

Cited by 163 publications

(149 citation statements)

References 94 publications

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“…However, these are associated with new-onset narcolepsy in children. 7 Moreover, SC is an occasional feature of encephalitis lethargica (EL), a neurological disorder characterized by hypersomnia and posterior hypothalamic lesions, 8 associated with elevated ASO titers.…”

Section: Narcolepsy-cataplexy: Is Streptococcal Infection a Trigger?mentioning

confidence: 99%

Narcolepsy-Cataplexy: Is Streptococcal Infection a Trigger?

Natarajan

Jain

Chaudhry

et al. 2013

Journal of Clinical Sleep Medicine

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Narcolepsy-cataplexy is an uncommon sleep disorder which may present in childhood. We report a case of an 8-year-old presenting with narcolepsy-cataplexy following a streptococcal infection. Autoimmune etiology for narcolepsy has been suggested. In our patient increased anti-streptolysin O and antiDNAse B titers were noted. As suggested by recent cases, the streptococcal infection was likely a trigger for narcolepsy onset in this genetically predisposed child. The patient was initially diagnosed as having Sydenham chorea due to motor movements. However, these transient movements may be due to the narcolepsy onset. Narcolepsy in childhood may present with atypical symptoms; it might be diffi cult to obtain accurate history and can be misdiagnosed as in the reported case. A high index of clinical suspicion is needed to diagnose these patients. Keywords: Narcolepsy, streptococcal infection Citation: Natarajan N; Jain SV; Chaudhry H; Hallinan BE; Simakajornboon N. Narcolepsy-cataplexy: is streptococcal infection a trigger? J Clin Sleep Med 2013;9(3):269-270.http://dx.doi.org/10.5664/jcsm.2498 C a S E R E p o R t SN arcolepsy with hypocretin defi ciency occurs in approximately 1 out of 3,000 individuals. The incidence in children is not known. The loss of hypocretin-secreting neurons in hypothalamus is implicated in the disease process, which is believed to be autoimmune. Recently, post-infectious etiologies have been implicated. We report a case of an 8-year-old presenting with narcolepsy-cataplexy after a streptococcal infection. REpoRt oF CaSEAn 8-year-old biracial male presented to our clinic for a second opinion. Two months prior to presentation, he had a sore throat and fever of 102°F. Rapid strep test for Streptococcus pharyngitis was negative. Three weeks later, he had rapid onset of somnolence. He was sleeping more than 10 hours in night with 45 to 60-min naps every 3-4 hours. He had brief asynchronous jerks of all extremities prior to falling asleep and slurred speech after laughing. A video EEG and MRI brain were normal. Thyroid and liver function tests, and EBV, and Lyme titers were normal. Anti-streptolysin O (ASO) and anti-DNAse B (ADB) were elevated to 200 IU/mL (normal 0-100 IU/mL) and 587 U/mL (normal 0-170 U/mL), respectively. He was diagnosed with Sydenham chorea (SC) and started on penicillin.He continued to have increased sleepiness and was referred to us. He also had a decline in school performance and moodiness. He denied hallucinations, vivid dreams, or sleep paralysis. Mother noted increased jitteriness/shaking when he laughed. His Epworth Sleepiness Scale score was 19, and BMI was 19.7 kg/m 2 (> 90 th percentile). His physical examination was normal. There were no complex motor movements.Differential diagnosis included narcolepsy or hypersomnia associated with sleep (OSA, PLMD) or neurological disorders. A lumbar puncture showed normal cerebrospinal fl uid (CSF) protein, glucose, and cell count. The CSF neurotransmitter metabolites tetrahydrobiopterin and neopterin profi les were normal. CSF...

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Section: Narcolepsy-cataplexy: Is Streptococcal Infection a Trigger?mentioning

confidence: 99%

Narcolepsy-Cataplexy: Is Streptococcal Infection a Trigger?

Natarajan

Jain

Chaudhry

et al. 2013

Journal of Clinical Sleep Medicine

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“…While excessive daytime sleepiness remains the hallmark of the disorder, cataplexy does not always manifest very early on, and a host of other positive and negative motor phenomena have been described in pediatrics, more so than in adult populations. Children with narcolepsy may display complex abnormal motor behaviors close to disease onset that do not meet the classical definition of cataplexy, including a complex array of 'negative' (hypotonia) and 'active' (ranging from perioral movements to dyskineticdystonic movements or stereotyped movement) motor disturbances [59]. In this way, it has been argued that pediatric narcolepsy with cataplexy often co-occurs with a complex movement disorder at disease onset, a phenomenon that may vanish later in the course of the disease [59].…”

Section: Narcolepsymentioning

confidence: 99%

“…Children with narcolepsy may display complex abnormal motor behaviors close to disease onset that do not meet the classical definition of cataplexy, including a complex array of 'negative' (hypotonia) and 'active' (ranging from perioral movements to dyskineticdystonic movements or stereotyped movement) motor disturbances [59]. In this way, it has been argued that pediatric narcolepsy with cataplexy often co-occurs with a complex movement disorder at disease onset, a phenomenon that may vanish later in the course of the disease [59]. Pediatric narcolepsy-cataplexy is also associated with excessive weight gain near symptom onset, and may be associated with other sleep disorders, including periodic limb movements and sleep apnea, which may obscure or delay the correct clinical diagnosis [60,61].…”

Section: Narcolepsymentioning

confidence: 99%

Current Treatment of Selected Pediatric Sleep Disorders

Sullivan

2012

Neurotherapeutics

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While pediatric sleep disorders are relatively common, treatments are often not straightforward. There is often a paucity of gold standard studies and data available to guide clinicians, treatments may yield arguably incomplete results, interventions may require chronic use, and/ or involve multiple modalities including behavioral interventions that require high parental and family commitment. This review points out diagnostic differences compared to adults and focuses on current therapy for selected common pediatric sleep disorders including sleep disordered breathing/ obstructive sleep apnea, narcolepsy, and restless legs syndrome. Other common pediatric sleep disorders, such as insomnia and parasomnias, are not covered.

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“…Overall, nine children (23%) had a combination of hypotonia and abnormal gait, whereas seven (18%) and one (3%) presented only mild hypotonia or abnormal gait, respectively. 16 [Level 4] A systematic review of physical examination findings was not present in a 2005 case series of secondary narcolepsy done by Nishino et al,17 but abnormal physical examination findings were described in multiple cases and were elucidatory that a secondary cause of narcolepsy was possible. Narcolepsy symptoms can also occur during the course of other conditions (e.g., secondary narcolepsy).…”

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confidence: 99%

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Quality Measures for the Care of Patients with Narcolepsy

Krahn

Hershner

Loeding

et al. 2015

Journal of Clinical Sleep Medicine

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The American Academy of Sleep Medicine (AASM) commissioned a Workgroup to develop quality measures for the care of patients with narcolepsy. Following a comprehensive literature search, 306 publications were found addressing quality care or measures. Strength of association was graded between proposed process measures and desired outcomes. Following the AASM process for quality measure development, we identifi ed three outcomes (including one outcome measure) and seven process measures. The fi rst desired outcome was to reduce excessive daytime sleepiness by employing two process measures: quantifying sleepiness and initiating treatment. The second outcome was to improve the accuracy of diagnosis by employing the two process measures: completing both a comprehensive sleep history and an objective sleep assessment. The third outcome was to reduce adverse events through three steps: ensuring treatment follow-up, documenting medical comorbidities, and documenting safety measures counseling. All narcolepsy measures described in this report were developed by the Narcolepsy Quality Measures Workgroup and approved by the AASM Quality Measures Task Force and the AASM Board of Directors. The AASM recommends the use of these measures as part of quality improvement programs that will enhance the ability to improve care for patients with narcolepsy. N arcolepsy is one of the most intriguing causes of excessive daytime sleepiness. Narcolepsy (with cataplexy) affects approximately 25-50 per 100,000 people in the US. 1 The prevalence of narcolepsy without cataplexy is higher still, yet the disorder remains under-recognized and under-diagnosed. Presently, narcolepsy treatment varies due to a heterogeneous presentation of symptoms and severity of disease among patients. Although narcolepsy is uncommon compared to other sleep disorders, the American Academy of Sleep Medicine (AASM) included it in the quality measure process because it is a disorder that generally results in signifi cant daily dysfunction when not appropriately treated. The quality measures described in this position paper include children and adolescents in the targeted patient population, as 40% to 50% of adult patients report onset of symptoms before age 15 years. 2,3 However, the Workgroup notes limitations in diagnostic testing and lack of level 1 evidence-based treatment studies in the pediatric population. Because of the paucity of clinical trials and FDA-approved treatments for narcolepsy for both pediatric and adult patients, the Workgroup believed that it was imperative to include off-label options in treatment plans.The International Classifi cation of Sleep Disorders, Third Edition (ICSD-3) was used as the narcolepsy diagnostic reference. The ICSD-3 subdivides narcolepsy into type 1 and 2, with type 1 characterized by excessive daytime sleepiness, hypocretin defi ciency syndrome, and signs of REM-sleep dissociation (e.g., cataplexy, hypnagogic and hypnopompic hallucinations, sleep paralysis) and type 2 characterized by excessive daytime sleepiness and ...

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Complex movement disorders at disease onset in childhood narcolepsy with cataplexy

Cited by 163 publications

References 94 publications

Narcolepsy-Cataplexy: Is Streptococcal Infection a Trigger?

Narcolepsy-Cataplexy: Is Streptococcal Infection a Trigger?

Current Treatment of Selected Pediatric Sleep Disorders

Quality Measures for the Care of Patients with Narcolepsy

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