Sleep-related hypermotor epilepsy in a patient with mucopolysaccharidosis type III

Абрамова, А. А.; Attarian, Hrayr; Dolgova, Snezhana; Belyakova-Bodina, A. I.; Iakovenko, E. V.; Broutian, A. G.

doi:10.5935/1984-0063.20200113

Cited by 1 publication

(1 citation statement)

References 15 publications

(20 reference statements)

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“…In patients with sleep disturbance, medical workup should include consideration of the presence of disordered movement or seizure activity [85], iron deficiency in the setting of restless legs, pain or intercurrent illness, esophageal reflux, dental disease, and disordered breathing or sleep apnea during sleep. Sleep disturbance should be addressed with a multimodal approach that includes sleep hygiene counseling, implementing behavioral strategies, addressing the safety of the environment (eg securing the door to prevent harm from wandering, removing items that may cause choking, removing or covering hard surfaces, enclosed specialty beds, and avoiding furniture that could be toppled over), treating circadian rhythm disturbance, and other comorbid medical factors.…”

Section: Sleepmentioning

confidence: 99%

Sanfilippo syndrome: consensus guidelines for clinical care

Muschol

Giugliani

Jones

et al. 2022

Orphanet J Rare Dis

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Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological decline and multisystem involvement requires a multidisciplinary team with experience in the management of neurodegenerative disorders. Best practice guidelines for the clinical management of patients with these types of rare disorders are critical to ensure prompt diagnosis and initiation of appropriate care. However, there are no published standard global clinical care guidelines for patients with Sanfilippo syndrome. To address this, a literature review was conducted to evaluate the current evidence base and to identify evidence gaps. The findings were reviewed by an international steering committee composed of clinical experts with extensive experience in managing patients with Sanfilippo syndrome. The goal was to create a consensus set of basic clinical guidelines that will be accessible to and informed by clinicians globally, as well as providing a practical resource for families to share with their local care team who may not have experience with this rare disease. This review distills 178 guideline statements into an easily digestible document that provides evidence-based, expert-led recommendations for how to approach common management challenges and appropriate monitoring schedules in the care of patients with Sanfilippo syndrome.

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Section: Sleepmentioning

confidence: 99%