Paroxysmal sympathetic hyperactivity following status epilepticus in a 22-year-old with Juvenile Neuronal Ceroid Lipofuscinosis: A case report

Himmelrich, Molly D.; Pritchard, Jennifer M.; Gutierrez, Camilo; Dutta, Tara L.M.

doi:10.1016/j.ebr.2021.100427

Cited by 2 publications

(4 citation statements)

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“…The episodes might start without obvious reason, but typically the episodes occur when the patients are being left alone, exposed to stimuli that are either non-nociceptive (lifting the patient from bed to a wheelchair, loud sounds) or only minimally nociceptive (bathing, brushing teeth) ( 6 – 8 ). Similar recurrent episodes have also been described in a 22 year old patient with JNCL following a case of status epilepticus ( 27 ). In this patient, the episodes lasted from 10 s−5 min and occurred as frequently as every 10 s in clusters.…”

Section: The Clinical Presentation Of Anxious Behavior In Adolescent ...supporting

confidence: 75%

“…Studies have shown that low base-line parasympathetic activity in toddlers (24 months of age) predisposes to increased fear, and that parental appraisal of children's fearfulness predicts parenting behavior like overprotection and over solicitousness that even reinforce the children's fearful behavior (24,25). In addition, recent studies have shown that a feeling of fear is contagious, i.e., can spread from one person to another through a dynamic coupling of physiological synchrony between a "demonstrator's" and the "observer's" autonomic nervous system (26).…”

Section: Neurobiological Aspects Of Fear and Anxietymentioning

confidence: 99%

“…In this patient, the episodes lasted from 10 s−5 min and occurred as frequently as every 10 s in clusters. When each episode ceased, the muscles relaxed, heart rate and blood pressure normalized, the diaphoresis resolved, and the consciousness improved ( 27 ). In a retrospective review of medical records, similar episodic symptoms were identified in 10 of 21 subjects (mean age 21.2; range 10–39 years of age) in a recently published Norwegian case series ( 11 ).…”

Section: The Clinical Presentation Of Anxious Behavior In Adolescent ...mentioning

confidence: 99%

“…That includes appropriate positioning, use of weighted blankets, prevention of constipation/bladder retention, infections, unprepared and rapid movements, loud noises, and to ensure a close but calming physical presence of parents and/or health care workers. As feeling of fear is contagious ( 27 ), i.e., can spread from one person to another, it is an important preventive approach that the staff do not show or express their own fear or concern of the patient's clinical condition having the patient nearby. When the episodes occur for no apparent reason intestinal discomfort or infections should be suspected.…”

Section: Therapeutic Considerationsmentioning

confidence: 99%

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Etiology of anxious and fearful behavior in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)

Østergaard

2023

Front. Psychiatry

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BackgroundJuvenile neuronal ceroid lipofuscinosis (JNCL, CLN3) is a childhood-onset neurodegenerative disease with prominent symptoms comprising a pediatric dementia syndrome. As in adult dementia, behavioral symptoms like mood disturbances and anxiety are common. In contrast to in adult dementia, however, the anxious behavioral symptoms increase during the terminal phase of JNCL disease. In the present study, the current understanding of the neurobiological mechanisms of anxiety and anxious behavior in general is addressed as will a discussion of the mechanism of the anxious behavior seen in young JNCL patients. Based on developmental behavioral points of view, known neurobiological mechanisms, and the clinical presentation of the anxious behavior, a theory of its etiology is described.Result and discussionDuring the terminal phase, the cognitive developmental age of JNCL patients is below 2 years. At this stage of mental development individuals act primarily from a concrete world of consciousness and do not have the cognitive ability to encounter a normal anxiety response. Instead, they experience the evolutionary basic emotion of fear, and as the episodes typically are provoked when the adolescent JNCL patient is exposed to either loud sounds, is lifted from the ground, or separated from the mother/known caregiver, the fear can best be perceived as the developmental natural fear-response that appears in children 0-2 years of age. The efferent pathways of the neural fear circuits are mediated through autonomic, neuroendocrine, and skeletal-motor responses. The autonomic activation occurs early, is mediated through the sympathetic and parasympathetic neural systems, and as JNCL patients beyond puberty have an autonomic imbalance with a significant sympathetic hyperactivity, the activation of the autonomic nervous system results in a disproportionate high sympathetic activity resulting in tachycardia, tachypnea, excessive sweating, hyperthermia, and an increased atypical muscle activity. The episodes are thus phenotypically similar to what is seen as Paroxysmal Sympathetic Hyperactivity (PSH) following an acute traumatic brain injury. As in PSH, treatment is difficult and so far, no consensus of a treatment algorithm exists. Use of sedative and analgesic medication and minimizing or avoiding provocative stimuli may partly reduce the frequency and intensity of the attacks. Transcutaneous vagal nerve stimulation might be an option worth to investigate rebalancing the sympathetic-parasympathetic disproportion.

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Section: The Clinical Presentation Of Anxious Behavior In Adolescent ...supporting

confidence: 75%

Section: Neurobiological Aspects Of Fear and Anxietymentioning

confidence: 99%

Section: The Clinical Presentation Of Anxious Behavior In Adolescent ...mentioning

confidence: 99%

Section: Therapeutic Considerationsmentioning

confidence: 99%

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Etiology of anxious and fearful behavior in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)

Østergaard

2023

Front. Psychiatry

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Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH)

Baekmann,

Handrup,

Molgaard

et al. 2024

Orphanet J Rare Dis

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Background Recurrent non-epileptic episodes resembling paroxysmal sympathetic hyperactivity (PSH) have been observed in adolescents with Juvenile Ceroid Lipofuscinosis (CLN3-disease) and a possible association to an autonomic dysfunction has been suggested. The objective of the present study was to investigate the dynamics of the autonomic activity up to, during, and in the time after individual attacks. We include all seven suitable CLN3 patients in Denmark ≥ 15 years of age. HRV parameters were assessed from continuous heart rate monitoring during seven consecutive days and a particular focus of HRV parameters was obtained in close temporal context to clinically recurrent PSH-like episodes. In addition, the likelihood of PSH was assessed by caregiver’s description and by video documentation. Results Respectively eight and five episodes were recorded in two patients (18 and 20 years of age). The episodes were all safely superior to the cut off values of the clinical assessment score to be considered PSH-like episodes. During all 13 episodes, HRV revealed a statistically significant decrease in root mean square of successive differences (RMSSD) and standard deviation of the Poincaré-Plot interval (SD1) in the minutes prior to the clinical onset of the episodes, both indicating a sudden decrease in parasympathetic activity in advance of the onset. The reduced activity remained low during the episodes, and 15–30 min following the attack cessation, the parasympathetic activity had returned to pre-attacks levels. The sympathetic HRV parameters were unchanged resulting in a sympathetic overactivity during the episodes. In a third participant (32 years of age), in whom severity of PSH-like episodes had been gradually reduced during the last years, five episodes were registered. A similar temporally related reduction of the parasympathetic activity was found, but because the sympathetic activity decreased as well, no sympathetic dominance developed, which most reasonable is the reason to the clinically reduced expression of the episodes. Conclusion The documented transient withdrawal of parasympathetic activity leading to a paroxysmal unbalanced sympathetic hyperactivity most probably accounts for the PSH-like episodes occurring in post-adolescent CLN3 patients. The findings shed new light on both aetiology and possible preventative and therapeutic measures.

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Paroxysmal sympathetic hyperactivity following status epilepticus in a 22-year-old with Juvenile Neuronal Ceroid Lipofuscinosis: A case report

Cited by 2 publications

References 11 publications

Etiology of anxious and fearful behavior in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)

Etiology of anxious and fearful behavior in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)

Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH)

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