The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management

Yates, John R.; MacLean, Cathy; Higgins, J. Nicholas P.; Humphrey, Ayla; Marechal, Kate le; Clifford, Michelle; Carcani-Rathwell, Iris; Sampson, Julian R.; Bolton, Patrick

doi:10.1136/adc.2011.211995

Cited by 116 publications

(129 citation statements)

References 34 publications

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“…ТС про-является у пациентов с эпилепсией, нарушениями нерв-но-психического развития и расстройствами поведения. Эпилептические приступы отмечаются у 73-90% пациен-тов с ТС [5]. У большинства пациентов (63%) приступы отмечаются на первом году жизни, но даже у взрослых есть риск развития приступов (12%) [5].…”

Section: ключевые слова: туберозный склероз клинические симптомы диunclassified

“…Эпилептические приступы отмечаются у 73-90% пациен-тов с ТС [5]. У большинства пациентов (63%) приступы отмечаются на первом году жизни, но даже у взрослых есть риск развития приступов (12%) [5]. Инфантильные спазмы -самый распространенный тип приступов в де-бюте эпилепсии, но у 54% пациентов развиваются различ-ные типы приступов -простые и сложные фокальные, вторично-генерализованные [6].…”

Section: ключевые слова: туберозный склероз клинические симптомы диunclassified

“…Наличие больших по размеру АМЛ является факто-ром риска развития ретроперитонеального кровоизлия-ния (потенциально летальное осложнение ТС). Кроме АМЛ, у пациентов встречаются кисты почек (в 20-45% всех случаев) [1,2,4,5].…”

Section: рис 10 эхокардиография новорожденного с тс (стрелкой обо-зunclassified

“…Развивается и про-грессирует дыхательная недостаточность. На завершаю-щих стадиях заболевания спасти пациента может только трансплантация легких [4,5].…”

Section: рис 10 эхокардиография новорожденного с тс (стрелкой обо-зunclassified

See 3 more Smart Citations

Diagnosis of tuberous sclerosis complex

Ed¹,

My²,

Am³

et al. 2015

Z. nevrol. psikhiatr. im. S.S. Korsakova

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Section: ключевые слова: туберозный склероз клинические симптомы диunclassified

Section: рис 10 эхокардиография новорожденного с тс (стрелкой обо-зunclassified

See 2 more Smart Citations

Diagnosis of tuberous sclerosis complex

Ed¹,

My²,

Am³

et al. 2015

Z. nevrol. psikhiatr. im. S.S. Korsakova

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“…In TSC, the number of cases presenting with abnormalities identified at routine antenatal examination, such as positive screening of cardiac rhabdomyoma, has increased and now accounts for a substantial minority of cases (Yates et al, 2011), providing a unique opportunity to study risk pathways from birth in this population. The majority of previous work investigating the early years of TSC has relied on retrospective parental report, which is prone to various biases and problems with recall.…”

Section: Opportunities and Challengesmentioning

confidence: 99%

Early developmental pathways to autism spectrum disorder in tuberous sclerosis complex

et al. 2016

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Purpose – Tuberous sclerosis complex (TSC) is a genetic disorder with a high prevalence of autism spectrum disorder (ASD), yet no single genetic, neurological or neurophysiological risk marker is necessary or sufficient to increase risk for ASD. This paper aims to discuss the utility of adopting a developmental perspective. Design/methodology/approach – The increasing number of TSC infants presenting with abnormalities prenatally provides a unique opportunity to study risk pathways to ASD from birth. Here, the authors review findings to date that support the investigation of infants with TSC to further our understanding of typical and atypical development. Findings – Evidence has accumulated from studies of infants at familial risk for ASD (“baby siblings”) to suggest that early markers of ASD are present in the first year of life. The early waves of prospective studies of infants with TSC indicate dynamic changes in developmental trajectories to ASD and are likely to provide insight into cascading effects of brain “insult” early in development. Emerging evidence of phenotypic and biological homology between syndromic and idiopathic cases of ASD supports the notion of a convergence of risk factors on a final common pathway in ASD. Originality/value – The delineation of brain-based biomarkers of risk, prediction and treatment response in TSC will be critical in aiding the development of targeted intervention and prevention strategies for those infants at high risk of poorer developmental outcomes.

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Dermatologic and Dental Aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements

et al. 2014

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Skin and dental findings comprise 4 of 11 major features and 3 of 6 minor features in the diagnostic criteria. A definite diagnosis of TSC is defined as the presence of at least 2 major features or 1 major and 2 or more minor features; in addition, a pathological mutation in TSC1 or TSC2 is diagnostic. Skin and oral examinations should be performed annually and every 3 to 6 months, respectively. Intervention may be indicated for TSC skin or oral lesions that are bleeding, symptomatic, disfiguring, or negatively affecting function. Options presented include surgical excision, laser(s), or use of a mammalian target of rapamycin inhibitor.

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The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management

Cited by 116 publications

References 34 publications

Diagnosis of tuberous sclerosis complex

Diagnosis of tuberous sclerosis complex

Early developmental pathways to autism spectrum disorder in tuberous sclerosis complex

Dermatologic and Dental Aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements

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