scholarly journals Late onset myoclonic epilepsy in Down syndrome and dementia

2012 ◽  
Vol 6 (3) ◽  
pp. 97-103
Author(s):  
Annapia Verri ◽  
Aglaia Vignoli ◽  
Michele Terzaghi ◽  
Valeria Destefani ◽  
Luigi Nespoli
Keyword(s):  
Down Syndrome ◽  
Low Voltage ◽  
Background Activity ◽  
Late Onset ◽  
Clinical Signs ◽  
Psychometric Evaluation ◽  
Nrem Sleep ◽  
Myoclonic Epilepsy ◽  
Cortical Atrophy ◽  
One Year

Specific forms of epilepsy may be found at various ages in Down Syndrome (DS) and a sharp increase in the incidence of epilepsy with age has been documented. A specific type of myoclonic epilepsy associated with cognitive decline has been reported as “senile myoclonic epilepsy” or “late onset myoclonic epilepsy in DS” (LOMEDS). We report a new case of LOMEDS, documented by clinical and neurophysiological evaluation and psychometric assessment (DSDS and DMR). MF, male, affected by DS, was referred in 2004 at 40 years of age; he had no personal or familial history of epilepsy. Since one year, the patient presented cognitive deterioration, characterized by regression of language abilities, loss of memory, and loss of sphincters control. A brain TC showed mild brainstem and sub-cortical atrophy. In 2006, myoclonic jerks involving upper limbs occurred mainly after awakening. EEG showed a low voltage 8 Hz background activity with diffuse slow activity, intermingled with spikes or polyspikes, persisting during NREM sleep. MF was initially treated with clonazepam and after with topiramate, resulting in partial seizures control. MRI (2008) demonstrated diffuse brain atrophy, associated with marked ventricular enlargement. At the psychometric evaluation, onset of dementia was evident late in 2004, with transition to the middle stage in 2006. Last assessment (2009) showed the clinical signs of a late stage of deterioration, with loss of verbal abilities and autonomous ambulation. Using levetiracetam till 2,000 mg/die, myoclonic jerks decreased but are still present every day after awakening. On the EEG slow and poorly organized background activity with bilateral polyspike-wave discharges was recorded. Therefore, we documented a parallel progression of dementia and myoclonic epilepsy in a DS subject.

scholarly journals Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity

2021 ◽  
Vol 10 (13) ◽  
pp. 2776
Author(s):  
Miren Altuna ◽  
Sandra Giménez ◽  
Juan Fortea
Keyword(s):  
Down Syndrome ◽  
Functional Outcomes ◽  
Clinical Presentation ◽  
Late Onset ◽  
Current Knowledge ◽  
Epileptic Seizures ◽  
Myoclonic Epilepsy ◽  
Increased Risk ◽  
Number Of Individuals

Individuals with Down syndrome (DS) have an increased risk for epilepsy during the whole lifespan, but especially after age 40 years. The increase in the number of individuals with DS living into late middle age due to improved health care is resulting in an increase in epilepsy prevalence in this population. However, these epileptic seizures are probably underdiagnosed and inadequately treated. This late onset epilepsy is linked to the development of symptomatic Alzheimer’s disease (AD), which is the main comorbidity in adults with DS with a cumulative incidence of more than 90% of adults by the seventh decade. More than 50% of patients with DS and AD dementia will most likely develop epilepsy, which in this context has a specific clinical presentation in the form of generalized myoclonic epilepsy. This epilepsy, named late onset myoclonic epilepsy (LOMEDS) affects the quality of life, might be associated with worse cognitive and functional outcomes in patients with AD dementia and has an impact on mortality. This review aims to summarize the current knowledge about the clinical and electrophysiological characteristics, diagnosis and treatment of epileptic seizures in the DS population, with a special emphasis on LOMEDS. Raised awareness and a better understanding of epilepsy in DS from families, caregivers and clinicians could enable earlier diagnoses and better treatments for individuals with DS.

scholarly journals DOWN SYNDROME – LONGITUDINAL STUDY OF CLINICAL EVOLUTION AND PSYCHO-SOCIAL IMPLICATIONS

2021 ◽  
Vol 70 (2) ◽  
pp. 135-140
Author(s):  
Codruța Diana Petchesi ◽  
◽  
Gabriela Ciavoi ◽  
Florentina Feier ◽  
Oana Alexandra Iuhas ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Longitudinal Study ◽  
Late Onset ◽  
Clinical Signs ◽  
Case Series ◽  
Signs And Symptoms ◽  
Emotional Impact ◽  
Regional Center ◽  
Chromosomal Disorder

Introduction. Down syndrome is the most common chromosomal disorder, with a worldwide frequency of 1 case in 700 live births. Objectives. Starting from the hypothesis that with the increased life expectancy of the patients with Down syndrome, new phenotypic changes and new dysfunctions are expected to appear, we proposed a longitudinal study to analyze their evolution over a long period of time. Material and method. This is a longitudinal study, based on retrospective research and descriptive evaluation, performed on a group of 81 patients from the case series of the Bihor Regional Center for Medical Genetics from Oradea. Results. We have identified 4 types of evolutionary trends of the clinical signs: stationary, involutive, progressive and with late onset. Conclusions. Knowledge of the natural evolution of the signs and symptoms of the disease is indispensable in the long-term monitoring of patients with Down syndrome. The birth of a child with Down syndrome is a real drama for the family with a strong emotional impact that can be prevented or mitigated by facilitating prenatal diagnosis, psychological counselling, social support and specialized genetic advice.

Senile myoclonic epilepsy of Genton: Two cases in Down syndrome with dementia and late onset epilepsy

2007 ◽  
Vol 77 (2-3) ◽  
pp. 165-168 ◽  
Author(s):  
Arielle Crespel ◽  
Victoria Gonzalez ◽  
Philippe Coubes ◽  
Philippe Gelisse
Keyword(s):  
Down Syndrome ◽  
Late Onset ◽  
Myoclonic Epilepsy

scholarly journals Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy — Case report

2016 ◽  
Vol 19 (2) ◽  
pp. 267 ◽  
Author(s):  
RajendraKumar Pandey ◽  
ChandraMohan Sharma ◽  
BanshiLal Kumawat ◽  
Dinesh Khandelwal
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Late Onset ◽  
Myoclonic Epilepsy ◽  
Progressive Myoclonic Epilepsy

A Case of Late Onset Myoclonic Epilepsy in Down Syndrome (LOMEDS)

2015 ◽  
Vol 32 (3) ◽  
pp. 564-567
Author(s):  
Hideaki Ishibashi ◽  
Hiroshi Shigeto ◽  
Toshiaki Onitsuka
Keyword(s):  
Down Syndrome ◽  
Late Onset ◽  
Myoclonic Epilepsy

Sonographically guided, transcatheter foam sclerotherapy of the great saphenous vein

Phlebologie ◽  
2007 ◽  
Vol 36 (06) ◽  
pp. 309-312 ◽  
Author(s):  
T. Schulz ◽  
M. Jünger ◽  
M. Hahn
Keyword(s):  
Saphenous Vein ◽  
Great Saphenous Vein ◽  
Clinical Stage ◽  
Clinical Signs ◽  
Cost Effective ◽  
Duplex Sonography ◽  
Foam Sclerotherapy ◽  
Average Loss ◽  
One Year ◽  
The Cost

Summary Objective: The goal of the study was to assess the effectiveness and patient tolerability of single-session, sonographically guided, transcatheter foam sclerotherapy and to evaluate its economic impact. Patients, methods: We treated 20 patients with a total of 22 varicoses of the great saphenous vein (GSV) in Hach stage III-IV, clinical stage C2-C5 and a mean GSV diameter of 9 mm (range: 7 to 13 mm). We used 10 ml 3% Aethoxysklerol®. Additional varicoses of the auxiliary veins of the GSV were sclerosed immediately afterwards. Results: The occlusion rate in the treated GSVs was 100% one week after therapy as demonstrated with duplex sonography. The cost of the procedure was 207.91 E including follow-up visit, with an average loss of working time of 0.6 days. After one year one patient showed clinical signs of recurrent varicosis in the GSV; duplex sonography showed reflux in the region of the saphenofemoral junction in a total of seven patients (32% of the treated GSVs). Conclusion: Transcatheter foam sclerotherapy of the GSV is a cost-effective, safe method of treating varicoses of GSV and broadens the spectrum of therapeutic options. Relapses can be re-treated inexpensively with sclerotherapy.

scholarly journals Bayesian model reveals latent atrophy factors with dissociable cognitive trajectories in Alzheimer’s disease

2016 ◽  
Vol 113 (42) ◽  
pp. E6535-E6544 ◽  
Author(s):  
Xiuming Zhang ◽  
Elizabeth C. Mormino ◽  
Nanbo Sun ◽  
Reisa A. Sperling ◽  
Mert R. Sabuncu ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Executive Function ◽  
Bayesian Model ◽  
Late Onset ◽  
Temporal Cortex ◽  
Cortical Atrophy ◽  
Future Research ◽  
Dementia Patients ◽  
With Memory

We used a data-driven Bayesian model to automatically identify distinct latent factors of overlapping atrophy patterns from voxelwise structural MRIs of late-onset Alzheimer’s disease (AD) dementia patients. Our approach estimated the extent to which multiple distinct atrophy patterns were expressed within each participant rather than assuming that each participant expressed a single atrophy factor. The model revealed a temporal atrophy factor (medial temporal cortex, hippocampus, and amygdala), a subcortical atrophy factor (striatum, thalamus, and cerebellum), and a cortical atrophy factor (frontal, parietal, lateral temporal, and lateral occipital cortices). To explore the influence of each factor in early AD, atrophy factor compositions were inferred in beta-amyloid–positive (Aβ+) mild cognitively impaired (MCI) and cognitively normal (CN) participants. All three factors were associated with memory decline across the entire clinical spectrum, whereas the cortical factor was associated with executive function decline in Aβ+ MCI participants and AD dementia patients. Direct comparison between factors revealed that the temporal factor showed the strongest association with memory, whereas the cortical factor showed the strongest association with executive function. The subcortical factor was associated with the slowest decline for both memory and executive function compared with temporal and cortical factors. These results suggest that distinct patterns of atrophy influence decline across different cognitive domains. Quantification of this heterogeneity may enable the computation of individual-level predictions relevant for disease monitoring and customized therapies. Factor compositions of participants and code used in this article are publicly available for future research.

One year of health and social services for children 3?7 years old with Down syndrome

1986 ◽  
Vol 21 (3) ◽  
pp. 134-138 ◽  
Author(s):  
H. Goldstein ◽  
J. Philip ◽  
A. Dupont
Keyword(s):  
Down Syndrome ◽  
Social Services ◽  
Health And Social Services ◽  
One Year

Advances in Medical Genetics: Huntington Disease

1987 ◽  
Vol 9 (1) ◽  
pp. 13-14
Author(s):  
Frederick Hecht
Keyword(s):  
Molecular Genetics ◽  
Huntington Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
The United States ◽  
Medical Genetics ◽  
Clinical Signs And Symptoms ◽  
Huntington Chorea

Medical genetics is currently enjoying a time of exploration and discovery. Huntington disease has long been of interest in adult medicine. The onset of clinical signs and symptoms is usually delayed until midadulthood. It may seem strange in this context to focus on Huntington disease, but advances in molecular genetics have brought Huntington disease into the purview of pediatrics. These advances in molecular genetics make it possible to detect Huntington disease in a preclinical stage at or even before birth. The molecular approach does not replace prior approaches to Huntington disease but is synergistic and provides a model of the new genetics. Huntington disease is synonymous with Huntington chorea. It is named after George Huntington who, like his father and grandfather before him, studied the disease in families on Long Island, NY. Huntington disease is a more common hereditary disorder than phenylketonuria, which occurs in one of about 10,000 newborns in the United States. By contrast, about one in 2,000 persons is at risk for Huntington disease. Although most cases start clinically in midadulthood, usually between 35 and 42 years of age, there is great variability in age of onset. About 3% of cases are diagnosed as juvenile Huntington disease before the age of 15 years. Late onset is well known after 50 years of age.

Difficulties in diagnosing atypical variants of Alzheimer’s disease

2021 ◽  
Vol 26 (5) ◽  
pp. 16-23
Author(s):  
A. A. Tappakhov ◽  
T. Ya. Nikolaeva ◽  
T. E. Popova ◽  
N. A. Shnayder
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Clinical Picture ◽  
Short Term Memory ◽  
Late Onset ◽  
Early Stage ◽  
Primary Progressive Aphasia ◽  
Cortical Atrophy ◽  
Posterior Cortical Atrophy ◽  
Short Term

Alzheimer’s disease (AD) is the most common cause of dementia in the population. Late onset AD has a classic clinical picture with short-term memory deficit, apraxia and agnosia. Patients with early-onset AD may have an atypical clinical picture which complicates diagnosis. Atypical AD variants include the logopenic variant of primary progressive aphasia, posterior cortical atrophy, behavioral, biparietal, and cortico-basal variants. These variants have pathomorphological signs similar to classical AD, but at an early stage they are characterized by focal atrophy which explains their clinical polymorphism. This article provides a review of the current literature on atypical types of AD and presents a clinical case of a 62-year-old patient in whom the disease debuted with prosopagnosia due to focal atrophy of the temporo-occipital regions of the non-dominant hemisphere.

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