scholarly journals Risk pathways to autism in a cohort of children and adolescents with Tuberous Sclerosis Complex

2021 ◽  
Author(s):  
Fiona McEwen ◽  
Charlotte Tye ◽  
Holan Liang ◽  
Emma Woodhouse ◽  
Lisa Underwood ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Structural Equation Modelling ◽  
Structural Equation ◽  
Single Gene ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Seizure Type ◽  
Epileptic Spasms ◽  
Equation Modelling

Tuberous Sclerosis Complex (TSC) is a single gene disorder – caused by mutation in the TSC1 or TSC2 gene – that carries a high risk of autism spectrum disorder (ASD). Various neurological complications increase the risk of ASD but the way risk factors operate together is unclear. We aimed to explore risk pathways to ASD by modelling the interplay between genetic mutation (TSC1/TSC2), cortical tuber count, seizure type and severity. The Tuberous Sclerosis 2000 Study is a UK population-based, prospective study of the natural history of TSC. We recruited newly diagnosed children (N=125, 49.6% male, median age=2.7 years [range 4 weeks – 18 years]) and collected data on mutation, cortical tuber count (cranial MRI/CT), seizure history, and IQ. ASD and IQ assessments were carried out at 10-year follow up (N=86, 45.0% male, median age=12.5 years [range 7.8 – 26.9 years]). Assessment for ASD included the Autism Diagnostic Interview–Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS-2). Structural equation modelling using full information maximum likelihood estimation was used to explore pathways that mediate between mutation and ASD. Risk of ASD was high: 39.5% met research criteria for ASD and a further 41.9% showed autistic traits. Structural equation modelling resulted in two indirect pathways, with cortical tuber count and occurrence/severity of epileptic spasms in infancy mediating between mutation and ASD (mutation→tubers→spasms→ASD, B=2.08, 95% CI 0.15–8.02; mutation→spasms→ASD, B=2.98, 95% CI 0.04–8.89). Concurrent seizures (B=3.08, 95% CI 0.42–6.18) and IQ (B=-117.10, 95% CI -183.57–-59.16) were also associated with ASD symptoms. There was significantly elevated risk of ASD and subclinical autistic traits. Tuber count and severity of epileptic spasms predicted ASD severity, suggesting that seizures in infancy may push genetically vulnerable individuals over the threshold for an ASD diagnosis. Prevention/control of seizures in infancy may decrease severity of ASD symptoms. However, ASD was occasionally reported in the absence of overt seizures in infancy, so their causal role requires further investigation.

The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex

2019 ◽  
Vol 34 (12) ◽  
pp. 770-777 ◽  
Author(s):  
Anne-Elise C. de Groen ◽  
Jeffrey Bolton ◽  
Ann Marie Bergin ◽  
Mustafa Sahin ◽  
Jurriaan M. Peters
Keyword(s):  
Status Epilepticus ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Clinical Symptoms ◽  
Seizure Type ◽  
Epileptic Spasms ◽  
Clinical Seizure ◽  
Eeg Data ◽  
Electrographic Seizures ◽  
Region Match

Background:Subclinical seizures are electrographic seizures that present without subjective or objective clinical symptoms. In tuberous sclerosis complex, it is not known whether subclinical seizures occur alone, forewarn, or coexist with clinical seizures. To address this knowledge gap, we studied the prevalence and evolution of subclinical seizures in tuberous sclerosis complex.Methods:We retrospectively reviewed electroencephalography (EEG) data from our tuberous sclerosis complex clinic with subclinical seizures and clinical seizures in a blinded fashion. Based on EEG location and ictal pattern, subclinical seizures were classified as having a clinical counterpart from the same epileptogenic region (match) or not (no match).Results:Of 208 children with tuberous sclerosis complex, 138 had epilepsy and available EEG data. Subclinical seizures were detected in 26 of 138 (19%) children. Twenty-four children had both subclinical seizures and clinical seizures captured on EEG. In 13 of 24, subclinical seizures were detected as a novel, not previously recorded seizure type. In these children, subclinical seizures preceded matching clinical seizures in 4 (31%) within a median time of 4.5 months (range 2-14), whereas 9 (69%) never had any matching clinical seizure. In 11 of 24 children, subclinical seizures were not novel and could be matched to a previously recorded clinical seizure. Matching seizure types were focal (n = 10, 67%), tonic (n = 2), epileptic spasms (n = 2), and status epilepticus (n = 1).Conclusions:Subclinical seizures occur in one-fifth of children with tuberous sclerosis complex and epilepsy, and match with clinical seizures in a small majority. In a third of patients presenting with a novel subclinical seizure, matching clinical seizures follow.

Novelty and Threat in the Weapon Focus Effect: A Study with Structural Equation Modelling

2013 ◽  
Author(s):  
William Blake Erickson ◽  
James Michael Lampinen ◽  
Juliana Leding ◽  
Christopher S. Peters
Keyword(s):  
Structural Equation Modelling ◽  
Structural Equation ◽  
Equation Modelling ◽  
Weapon Focus ◽  
Focus Effect ◽  
Weapon Focus Effect

PENGARUH TANGGUNG JAWAB PIMPINAN DAN IKLIM DEMOKRASI TERHADAP PEMBENTUKAN ORGANISASI CERDAS DAN DAMPAKNYA TERHADAP SIKAP PROFESIONAL DOSEN

ALQALAM ◽  
2007 ◽  
Vol 24 (2) ◽  
pp. 178
Author(s):  
Tata Rosita
Keyword(s):  
Path Analysis ◽  
Structural Equation Modelling ◽  
Structural Equation ◽  
Equation Modelling

Tujuan pokok penelitian ini adalah untuk memperoleh bukti empirik mengenai pembentukan organisasi cerdas pada lembaga pendidikan tinggi. Paradigma baru organisasi adalah keharusan untuk menyesuaikan dengan lingkungan sehingga memerlukan perubahan melalui kepemimpinan dan demokratisasi. Lebih jauh, kita ingin melihat bagaimana pengaruh organisasi cerdas terhadap sikap profesional dosen.Penelitian ini dilaksanakan dengan menggunakan metode survei penjelasan pada Perguruan Tinggi Swasta di D KI Jakarta. Data yang dikumpulkan terdiri dari data sekunder yaitu melalui penyebaran kuesioner. Teknik Analisis data menggunakan  Structural Equation Modelling (SEM) dengan pendekatan Path Analysis (Analisis Jalur).Berdasarkan analisis dan pembahasan hasil penelitian ini, maka dapat disimpulkan beberapa hal sebagai berikut: (1) Tanggung jawab pimpinan memiliki pengaruh yang sangat signifikan terhadap organisasi cerdas, (2) Iklim demokrasi memiliki pengaruh yang signifikan terhadap organisasi cerdas, (3) Tanggung jawab pimpinan tidak memiliki pengaruh yang signifikan terhadap Iklim demokrasi, dan (4) Organisasi cerdas memiliki pengaruh yang signifikan terhadap sikap profesional.

PENTINGNYA KUALITAS PELAYANAN TERHADAP KEPUASAN DAN LOYALITAS PENGUNJUNG PERPUSTAKAAN DAERAH KABUPATEN SUMENEP

2015 ◽  
Vol 5 (2) ◽  
pp. 67
Author(s):  
Sayyida , ◽  
Bambang Hermanto ◽  
Edy Sugianto
Keyword(s):  
Structural Equation Modelling ◽  
Structural Equation ◽  
Equation Modelling ◽  
Key Word

Salah satu fungsi utama dari perpustakaan adalah pengemasan dan penyebaran informasi, bukanlah penciptaan informasi. Sehingga perpustakaan dituntut untuk memberikan layanan informasi yang lebih baik dan tepat guna. Tujuan dari penelitian ini adalah untuk mengetahui pengaruh kualitas pelayanan terhadap kepuasan dan loyalitas serta pengaruh dari kepuasan terhadap loyalitas pengunjung di perpustakaan Daerah Kabupaten Sumenep. Sampel yang diteliti sebanyak 200 orang yang terdiri dari Siswa, Mahasiswa dan Umum. Data dianalisis dengan menggunakan analisis structural equation modelling (SEM). Berdasarkan hasil analisis dapat disimpulkan bahwa semakin baik kualitas pelayanan, maka semakin meningkat kepuasan pengunjung serta pengunjung akan semakin royal terhadap perpustakaan Daerah Kabupaten Sumenep. Key Word :      Perpustakaan, Structural Equation Modelling (SEM), Kualitas Pelayanan, Kepuasan Dan Loyalitas

Faktor-Faktor Pengembangan Sistem Informasi Akademik Berbasis Web Pada Perguruan Tinggi Swasta Palembang

2018 ◽  
Vol 2 (1) ◽  
pp. 295-300
Author(s):  
Muhammad Soekarno Putra
Keyword(s):  
Structural Equation Modelling ◽  
Structural Equation ◽  
Equation Modelling

Salah satu pemanfaatan perkembangan teknologi informasi di dunia pendidikan di perguruan tinggi swasta (PTS) yaitu dengan memanfaatkan dan mengimplementasikan sistem informasi akademik (SIA) berbasis web. Penelitian ini bertujuan untuk meneliti kontribusi teknologi dan infrastruktur (TI), desain (DS), sumber daya manusia (SD) dan budaya (BD) dalam pengembangan SIA berbasis web pada PTS di Palembang. Metode penelitian yang digunakan adalah metode kuantitatif, sedangkan teknik pengumpulan data menggunakan metode angket. Metode analisa data pada penelitian ini menggunakan Structural Equation Modelling (SEM). Populasi dalam penelitian ini adalah PTS di Palembang yang memiliki SIA berbasis web yaitu Universitas Bina Darma dan STMIK Palcomtech. Sedangkan yang dijadikan responden yaitu mahasiswa, dosen dan staff. Hasil dari penelitian menunjukkan bahwa teknologi dan infrastruktur, desain, sumber daya manusia dan budaya berkontribusi terhadap pengembangan SIA berbasis web pada PTS di Palembang.

Investigating multidimensionality of language lateralisation in left and right handed adults: an update on Woodhead et al. 2019

2020 ◽  
Author(s):  
Zoe Victoria Joan Woodhead ◽  
Paul Andrew Thompson ◽  
Emma Karlsson ◽  
Dorothy Vera Margaret Bishop
Keyword(s):  
Transcranial Doppler ◽  
Structural Equation Modelling ◽  
Structural Equation ◽  
Doppler Sonography ◽  
Factor Model ◽  
Transcranial Doppler Sonography ◽  
Group Level ◽  
Equation Modelling ◽  
Left And Right ◽  
Functional Transcranial Doppler Sonography

A previous study we reported in this journal suggested that left and right handers may differ in their patterns of lateralisation for different language tasks. However, it had too few left handers (N=7) to reach any conclusions. For this update paper, further participants were added to the sample to create separate groups of left (N=31) and right handers (N=43). Two hypotheses were tested: 1) that lateralisation would be weaker at the group level in left than right handers; and 2) that left handers would show weaker covariance in lateralisation between tasks, supporting a two factor model.All participants performed the same protocol as in our previous paper: lateralisation was measured using functional transcranial Doppler sonography during six different language tasks, on two separate testing sessions. The results supported hypothesis 1, with significant differences in laterality between groups for four out of six tasks. For hypothesis 2, structural equation modelling showed that there was stronger evidence for a two factor model in left than right handers; furthermore, examination of the factor loadings suggested that the pattern of laterality across tasks may also differ between handedness groups. These results expand on what is known about the differences in laterality between left and right handers.

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