Child Neurology: A Case Series of Heterogeneous Neuropsychiatric Symptoms and Outcome in Very Early-Onset Narcolepsy Type 1

Veneruso, Marco; Pizza, Fabio; Finotti, Elena; Amore, Giulia; Vandi, Stefano; Filardi, Marco; Antelmi, Elena; Nobili, Lino; Cassio, Alessandra; Pession, Andrea; Plazzi, Giuseppe

doi:10.1212/wnl.0000000000200666

Cited by 5 publications

(5 citation statements)

References 14 publications

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“…Various neuropsychiatric symptoms (mood disturbances, irritability) and co-morbidities (such as attention deficit/hyperactivity disorder, oppositional defiant disorder) as well other developmental delays and a transient movement disorder (with ‘active’ and ‘negative’ motor symptoms such as swaying and falls respectively, as was seen in our patient) can occur in a child with narcolepsy. 7 , 13 Therefore, it only seems logical that the earlier narcolepsy is identified and treated, the better the neuropsychiatric and neurodevelopmental outcomes will be. 7 …”

Section: Discussionmentioning

confidence: 99%

“… 7 , 13 Therefore, it only seems logical that the earlier narcolepsy is identified and treated, the better the neuropsychiatric and neurodevelopmental outcomes will be. 7 …”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, there are less than fifteen reported cases of narcolepsy type 1 with onset before age five and only three with diagnosis via CSF hypocretin-1 (orexin) levels. 7 …”

Section: Introductionmentioning

confidence: 99%

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“Oh My Sleeping Child” … Narcolepsy Type 1 in a 22-Month-Old Boy

Giourgas,

Morgan,

Bhatia

2024

Child Neurology Open

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Pediatric narcolepsy is a complex disorder with unique diagnostic challenges. It is diagnosed with a combination of clinical presentation, polysomnogram with multiple sleep latency test (PSG with MSLT), and occasionally, hypocretin-1 (orexin) levels in the cerebrospinal fluid (CSF). This report describes a 22-month-old boy experiencing excessive daytime sleepiness (EDS) and frequent falls. The patient was subsequently diagnosed with narcolepsy using hypocretin-1 (orexin) levels. The intent of this report is to establish the utility of using hypocretin-1 (orexin) levels to diagnose narcolepsy type 1 in children who are too young to undergo PSG with MSLT. To our knowledge, there are no reports of narcolepsy in a patient this young. Early recognition and treatment of narcolepsy in children younger than age five may lead to a substantial impact on their cognitive development and minimize potential long- term complications.

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Section: Discussionmentioning

confidence: 99%

“… 7 , 13 Therefore, it only seems logical that the earlier narcolepsy is identified and treated, the better the neuropsychiatric and neurodevelopmental outcomes will be. 7 …”

Section: Discussionmentioning

confidence: 99%

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“Oh My Sleeping Child” … Narcolepsy Type 1 in a 22-Month-Old Boy

Giourgas,

Morgan,

Bhatia

2024

Child Neurology Open

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“…In addition, thyrotrophin-releasing hormone and the nicotine patch are both promising new treatments for narcolepsy. Future research is required to validate and establish future treatment options as effective therapeutic strategies for narcolepsy [ 179 , 180 , 181 , 182 , 183 , 184 , 185 , 186 ]. Table 1 contains a list of potential therapeutics that may help with narcolepsy symptoms.…”

Section: Diagnosis and Treatmentmentioning

confidence: 99%

Narcolepsy—A Neuropathological Obscure Sleep Disorder: A Narrative Review of Current Literature

et al. 2022

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Narcolepsy is a chronic, long-term neurological disorder characterized by a decreased ability to regulate sleep–wake cycles. Some clinical symptoms enter into differential diagnosis with other neurological diseases. Excessive daytime sleepiness and brief involuntary sleep episodes are the main clinical symptoms. The majority of people with narcolepsy experience cataplexy, which is a loss of muscle tone. Many people experience neurological complications such as sleep cycle disruption, hallucinations or sleep paralysis. Because of the associated neurological conditions, the exact pathophysiology of narcolepsy is unknown. The differential diagnosis is essential because relatively clinical symptoms of narcolepsy are easy to diagnose when all symptoms are present, but it becomes much more complicated when sleep attacks are isolated and cataplexy is episodic or absent. Treatment is tailored to the patient’s symptoms and clinical diagnosis. To facilitate the diagnosis and treatment of sleep disorders and to better understand the neuropathological mechanisms of this sleep disorder, this review summarizes current knowledge on narcolepsy, in particular, genetic and non-genetic associations of narcolepsy, the pathophysiology up to the inflammatory response, the neuromorphological hallmarks of narcolepsy, and possible links with other diseases, such as diabetes, ischemic stroke and Alzheimer’s disease. This review also reports all of the most recent updated research and therapeutic advances in narcolepsy. There have been significant advances in highlighting the pathogenesis of narcolepsy, with substantial evidence for an autoimmune response against hypocretin neurons; however, there are some gaps that need to be filled. To treat narcolepsy, more research should be focused on identifying molecular targets and novel autoantigens. In addition to therapeutic advances, standardized criteria for narcolepsy and diagnostic measures are widely accepted, but they may be reviewed and updated in the future with comprehension. Tailored treatment to the patient’s symptoms and clinical diagnosis and future treatment modalities with hypocretin agonists, GABA agonists, histamine receptor antagonists and immunomodulatory drugs should be aimed at addressing the underlying cause of narcolepsy.

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“…However, the peculiar clinical features of paediatric patients possibly manifesting EDS with behavioural changes and cataplexy as a hypotonic condition also in the absence of clear emotional triggers, 1 coupled with the possible early onset of concurrent neuropsychiatric symptoms, 5 can make clinical suspect challenging, often leading to a delay in proper referral and adequate diagnostic workup. 6 …”

Section: Introductionmentioning

confidence: 99%

Theory of Mind impairment in childhood narcolepsy type 1: a case–control study

Veneruso,

Del Sette,

Cordani

et al. 2024

Brain Communications

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Narcolepsy type 1 is a central disorder of hypersomnolence characterized by excessive daytime sleepiness, cataplexy, and other rapid eye movement sleep-related manifestations. Neurophysiological studies suggest that Narcolepsy type 1 patients may experience impairment in emotional processing due to structural and functional changes in limbic structures and associated areas. However, the only study exploring Narcolepsy behavioral responses found no impairment in the ability to recognize emotions, possibly due to compensatory mechanisms. The present study was designed to fill this gap in the literature by investigating the behavioral impairment related to emotional processing focusing on an advanced socio-cognitive skill, namely Theory of Mind, in pediatric Narcolepsy type 1 patients. Twenty-two Narcolepsy type 1 children and adolescents (6 Female; Age range: 8.0–13.5) and 22 healthy controls matched for age and sex (6 Female; Age range: 8; 9–13; 0) underwent a neuropsychological evaluation to assess socio–economic status, verbal abilities, working memory, social anxiety, and Theory of Mind via a verbal (i.e., Strange Stories task) and a visual task (i.e., Silent Films). Narcolepsy type 1 patients were also evaluated for disease severity. Patients exhibited impairment in ToM skills, as assessed both through both verbal (Controls Median = 8; Patients Median = 5; p = .009) and visual tasks (Controls Median = 8; Patients Median = 6; p = .003), compared to healthy controls. Correlation analyses showed that verbal and visual Theory of Mind was negatively related to narcolepsy severity (ρ = -.45, p = .035 and ρ = -.52, p = .012), and daytime sleepiness (ρ = -.48, p = .025 and ρ = -.45, p = .038). Our study shows a selective impairment in the Theory of Mind domain in children and adolescents with Narcolepsy type 1. In addition, our results highlight a link between symptom severity and Theory of Mind, suggesting that lower Theory of Mind levels are associated with higher symptom severity. Further, longitudinal studies are needed to disentangle the direction of this relation and to disambiguate if Narcolepsy severity impaired children's Theory of Mind or if Theory of Mind skills modulate the severity of Narcolepsy symptoms by providing a greater ability to avoid cataplexy.

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Child Neurology: A Case Series of Heterogeneous Neuropsychiatric Symptoms and Outcome in Very Early-Onset Narcolepsy Type 1

Cited by 5 publications

References 14 publications

“Oh My Sleeping Child” … Narcolepsy Type 1 in a 22-Month-Old Boy

“Oh My Sleeping Child” … Narcolepsy Type 1 in a 22-Month-Old Boy

Narcolepsy—A Neuropathological Obscure Sleep Disorder: A Narrative Review of Current Literature

Theory of Mind impairment in childhood narcolepsy type 1: a case–control study

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