Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: Diagnostic relevance of video-polygraphy

2012 ◽  
Vol 25 (3) ◽  
pp. 401-407 ◽  
Author(s):  
Giuseppe d'Orsi ◽  
Marina Trivisano ◽  
Concetta Luisi ◽  
Vincenzo Demaio ◽  
Maria Teresa Di Claudio ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders ◽  
Epileptic Seizures

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

2008 ◽  
Vol 23 (10) ◽  
pp. 1384-1390 ◽  
Author(s):  
Teresa Temudo ◽  
Elisabete Ramos ◽  
Karin Dias ◽  
Clara Barbot ◽  
Jose P. Vieira ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders ◽  
Mecp2 Mutation ◽  
Mutation Type

Rett syndrome and associated movement disorders

1990 ◽  
Vol 5 (3) ◽  
pp. 195-202 ◽  
Author(s):  
Patricia M. FitzGerald ◽  
Joseph Jankovic ◽  
Alan K. Percy
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders

scholarly journals Correlation Between Dysphagia and Malocclusion in Rett Syndrome: A preliminary study

2019 ◽  
Vol 18 (4) ◽  
pp. 489
Author(s):  
Serena Cocca ◽  
Massimo Viviano ◽  
Michele Loglisci ◽  
Stefano Parrini ◽  
Giovanni Monciatti ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Epileptic Seizures ◽  
University Hospital ◽  
Severe Dysphagia ◽  
Feeding And Eating Disorders ◽  
Craniofacial Dysmorphism ◽  
The Mean ◽  
Preliminary Study ◽  
The University ◽  
Mild Dysphagia

Objectives: Rett syndrome (RS) is a severe neurological developmental disorder characterised by stereotypical hand movements, epileptic seizures, craniofacial dysmorphism and digestive dysfunction. This study aimed to examine the correlation between the severity of malocclusion and dysphagia in patients with RS. Methods: This preliminary study was conducted at the Ear, Nose & Throat Clinic of the University Hospital of Siena, Siena, Italy, from January 2014 to December 2017. A total of 56 patients with RS were examined and grouped according to the severity of dysphagia (absent, mild, moderate or severe) and malocclusion (<2 mm, 2–3 mm, 3–4 mm or >4 mm). Results: All of the patients were female and the mean age was 11.3 years. Eight (14.3%) patients had mild, 18 (32.1%) had moderate and 30 (53.6%) had severe dysphagia. Four (7.1%) patients had <2 mm occlusion, 10 (17.9%) had 2–3 mm occlusion, 26 (46.4%) had 3–4 mm occlusion and 16 (28.6%) had >4 mm occlusion. Mild dysphagia was observed in 100% and 40% of patients with <2 and 2–3 mm malocclusion, respectively, while moderate dysphagia was present in 60% and 38.5% of patients with 2–3 and 3–4 mm malocclusion, respectively. Severe dysphagia was observed in 28.6% and 87.5% of patients with 3–4 and >4 mm malocclusion, respectively. There was a significant correlation between dysphagia and malocclusion severity (P <0.001). Conclusion: A higher degree of malocclusion was associated with more severe dysphagia among a cohort of patients with RS.Keywords: X-Linked Mental Retardation; Rett Syndrome; Dysphagia; Malocclusion; Feeding and Eating Disorders of Childhood.

scholarly journals Relationships between oral characteristics and eating/swallowing functions in patients with Rett syndrome of various ages

2015 ◽  
Vol 41 (1) ◽  
pp. 16-22
Author(s):  
Kimiko Hobo ◽  
◽  
Fumiyo Tamura ◽  
Keiichiro Sagawa ◽  
Hisaharu Suzuki ◽  
...  
Keyword(s):  
Nutritional Status ◽  
Rett Syndrome ◽  
Epileptic Seizures ◽  
Food Type ◽  
Swallowing Function ◽  
Gross Motor ◽  
Motor Functions ◽  
Respiratory Status ◽  
Swallowing Dysfunction ◽  
History Of

This study was conducted to clarify the actual status of oral symptoms related to the systemic and eating/swallowing functions, and the effect of ageing for those conditions in patients with Rett syndrome. The subjects were 38 females aged from 4 to 63 years diagnosed with Rett syndrome. The examination items were age, nutritional status, gross motor functions, history of epileptic seizures, antiepileptic drugs use, history of pneumonia, respiratory status (apnea, hyperventilation, and aerophagia), ingested food type, eating/swallowing functions, dysphagia symptom, occlusal condition, eating independence level, palate shape, and bruxism. Using Pearson's correlation coefficient, no significant correlation between age and nutritional status was observed (Rohrer index: p=0.12, BMI: p=0.22). When the other inter-item relationships were evaluated by the x square test and Fisher's exact test, a significant correlation was recognized between gross motor functions and oral functions (p < 0.01 ), between gross motor functions and swallowing function (p < 0.05), and between respiratory status and oral functions (p < 0.05). The investigation of the characteristics of patients with Rett syndrome suggested that decreased gross motor functions, such as gait function, and the appearance of respiratory status might herald the development of eating/swallowing dysfunction.

scholarly journals The Epilepsies of Rett Syndrome in Indonesia

2016 ◽  
Vol 45 (5) ◽  
pp. 203
Author(s):  
E. S. Herini ◽  
Sunartini H ◽  
I. Mangunatmadja ◽  
Purboyo S ◽  
Hardiono D. Pusponegoro
Keyword(s):  
Diagnostic Criteria ◽  
Rett Syndrome ◽  
Work Group ◽  
Case Series ◽  
Epileptic Seizures ◽  
Initial Diagnosis ◽  
Epileptiform Discharge ◽  
The Other ◽  
Major Type ◽  
Seizure Onset

Objective This study aimed to evaluate various types of sei-zures, EEG findings, and last evolution of epileptic seizures foundin children with Rett Syndrome (RTT).Methods A case series of ten female subjects from Sardjito Hos-pital, Yogyakarta; Cipto Mangunkusumo Hospital, Jakarta; andHasan Sadikin Hospital, Bandung from February 2001-April 2004.Diagnosis of RTT was established using necessary and support-ive criteria by the RTT Diagnostic Criteria Work Group and epi-lepsy was diagnosed according to clinical and EEG findings.Results The age during initial diagnosis of RTT ranged from 2years 6 months - 10 years 2 months (average: 4 years 6 months).The diagnosis of epilepsy, on the other hand, was establishedfrom 2 years - 5 years 10 months (average: 3 years 8 months).All subjects (10/10) had abnormal EEG results. Eight out of tenhad epileptiform discharge; the remaining had slowing backgroundactivity. The average age of initial seizure onset was 18 months.Five were diagnosed as epileptic subjects. Febrile convulsionswere the most common initial seizure. General tonic clonic sei-zure was major type of seizure which manifested in 2 subjects.Conclusion All EEG results showed abnormality, although sei-zure did not appear. Five out of ten subjects experienced epi-lepsy

Myoclonic status misdiagnosed as movement disorders in Rett syndrome: A video-polygraphic study

2009 ◽  
Vol 15 (2) ◽  
pp. 260-262 ◽  
Author(s):  
Giuseppe d’Orsi ◽  
Vincenzo Demaio ◽  
Mauro G. Minervini
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

2018 ◽  
Vol 40 (9) ◽  
pp. 768-774 ◽  
Author(s):  
Pauline Marzin ◽  
Cyril Mignot ◽  
Nathalie Dorison ◽  
Louis Dufour ◽  
Dorothée Ville ◽  
...  
Keyword(s):  
Movement Disorders ◽  
Early Onset ◽  
Epileptic Seizures

scholarly journals Continuous spike-and-wave activity during slow-wave sleep in patients with rett syndrome

2021 ◽  
Vol 16 (1-2) ◽  
pp. 63-68
Author(s):  
S. L. Kulikova ◽  
I. V. Kozyreva ◽  
S. A. Likhachev ◽  
M. Yu. Bobylova
Keyword(s):  
Rett Syndrome ◽  
Slow Wave ◽  
Slow Wave Sleep ◽  
Epileptiform Activity ◽  
Epileptic Seizures ◽  
High Amplitude ◽  
Speech Development ◽  
Early Age ◽  
Entire Observation Period ◽  
Observation Period

The article presents a description of a clinical case of a child 3 years 8 months old with Rett syndrome caused by the mutation of p.Val485fs in the MECP2 gene. According to electroencephalography data at the age of 1 year and 6 months, diffuse continued epileptiform activity in the form of high-amplitude (up to 300 μV) acute – slow wave complexes (continuous spike-waves during slow-wave sleep, CSWS) with an index of 90–100 % was revealed. At the control examination at the age of 2 years and 10 months diffuse epileptiform activity was replaced by multifocal activity with an index of up to 70–80 % at certain epochs, in general, not exceeding 50–60 %. During the entire observation period there were no epileptic seizures. It remains unknown whether the presence of CSWS at such an early age is a predictor of a more severe course of Rett syndrome – in our observation the girl did not acquire walking skills and a delay in psychic and speech development was evident already before the 12 month of life. more research is needed on the frequency of the CSWS phenomenon and its role in the development of clinical features in Rett syndrome.

Sign in / Sign up

Export Citation Format

Share Document