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3. Increased Extra-axial Cerebrospinal Fluid in High-Risk Infants Who Later Develop Autism.

Author

Emerson, Robert, Shaw, Dennis, Elison, Jed, Swanson, Meghan, Fonov, Vladimir, Gerig, Guido, Dager, Stephen, Botteron, Kelly, Paterson, Sarah, Schultz, Robert, Evans, Alan, Estes, Annette, Zwaigenbaum, Lonnie, Styner, Martin, Amaral, David, Piven, J, Hazlett, H, Chappell, C, Dager, S, Estes, A, Shaw, D, Botteron, K, McKinstry, R, Constantino, J, Pruett, J, Schultz, R, Zwaigenbaum, L, Elison, J, Evans, A, Collins, D, Pike, G, Fonov, V, Kostopoulos, P, Das, S, Gerig, G, Styner, M, Gu, H, Piven, Joseph, Shen, Mark, Kim, Sun, McKinstry, Robert, Gu, Hongbin, Hazlett, Heather, and Nordahl, Christine

Subjects
Autism, Brain development, CSF, Extra-axial fluid, Infancy, MRI, Autism Spectrum Disorder, Axis, Cervical Vertebra, Cerebral Ventricles, Cerebrospinal Fluid, Child, Preschool, Female, Genetic Predisposition to Disease, Humans, Image Processing, Computer-Assisted, Infant, Longitudinal Studies, Magnetic Resonance Imaging, Male, Motor Skills, Organ Size, Pattern Recognition, Automated, Prodromal Symptoms, Prognosis, Sensitivity and Specificity, Severity of Illness Index, Siblings, Subarachnoid Space
Abstract

BACKGROUND: We previously reported that infants who developed autism spectrum disorder (ASD) had increased cerebrospinal fluid (CSF) in the subarachnoid space (i.e., extra-axial CSF) from 6 to 24 months of age. We attempted to confirm and extend this finding in a larger independent sample. METHODS: A longitudinal magnetic resonance imaging study of infants at risk for ASD was carried out on 343 infants, who underwent neuroimaging at 6, 12, and 24 months. Of these infants, 221 were at high risk for ASD because of an older sibling with ASD, and 122 were at low risk with no family history of ASD. A total of 47 infants were diagnosed with ASD at 24 months and were compared with 174 high-risk and 122 low-risk infants without ASD. RESULTS: Infants who developed ASD had significantly greater extra-axial CSF volume at 6 months compared with both comparison groups without ASD (18% greater than high-risk infants without ASD; Cohens d = 0.54). Extra-axial CSF volume remained elevated through 24 months (d = 0.46). Infants with more severe autism symptoms had an even greater volume of extra-axial CSF from 6 to 24 months (24% greater at 6 months, d = 0.70; 15% greater at 24 months, d = 0.70). Extra-axial CSF volume at 6 months predicted which high-risk infants would be diagnosed with ASD at 24 months with an overall accuracy of 69% and corresponding 66% sensitivity and 68% specificity, which was fully cross-validated in a separate sample. CONCLUSIONS: This study confirms and extends previous findings that increased extra-axial CSF is detectable at 6 months in high-risk infants who develop ASD. Future studies will address whether this anomaly is a contributing factor to the etiology of ASD or an early risk marker for ASD.

Published
2017

4. The Importance of Temperament for Understanding Early Manifestations of Autism Spectrum Disorder in High-Risk Infants

Author

Paterson, Sarah J., Wolff, Jason J., Elison, Jed T., Winder-Patel, Breanna, Zwaigenbaum, Lonnie, Estes, Annette, Pandey, Juhi, Schultz, Robert T., Botteron, Kelly, Dager, Stephen R., Hazlett, Heather C., Piven, Joseph, Piven, J., Hazlett, H. C., Chappell, C., Dager, S., Estes, A., Shaw, D., Botteron, K. N., McKinstry, R. C., Constantino, J., Pruett, J., Schultz, R. T., Paterson, S., Zwaigenbaum, L., Elison, J., Evans, A. C., Collins, D. L., Pike, G. B., Fonov, V., Kostopoulos, P., Das, S., Gerig, G., Styner, M., and Gu, H.

Abstract

The present study investigated the relationship between infant temperament characteristics and autism spectrum disorder (ASD) risk status. Temperament was examined at 6, 12, and 24 months in 282 infants at high familial risk for ASD and 114 low-risk controls using the Infant Behavior Questionnaire-Revised and Early Childhood Behavior Questionnaire. Infants were divided into three groups at 24 months: High-Risk Positive--classified as ASD (HR Pos), High-Risk Negative (HR Neg), and Low-Risk Negative (LR Neg). At 6 and 12 months HR Pos infants exhibited lower Surgency and Regulatory Capacity than LR Neg infants. By 12 months they also demonstrated increased Negative Affect. Group differences remained, when early signs of ASD were controlled for, suggesting that temperament differences could be useful targets for understanding the development of ASD.

Published
2019
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6. Parent Support of Preschool Peer Relationships in Younger Siblings of Children with Autism Spectrum Disorder

Author

Estes, Annette, Munson, Jeffrey, St. John, Tanya, Dager, Stephen R., Rodda, Amy, Botteron, Kelly, Hazlett, Heather, Schultz, Robert T., Zwaigenbaum, Lonnie, Piven, Joseph, Guralnick, Michael J., Chappell, J. C., Dager, S., Shaw, D, McKinstry, R., Constantino, J., Pruett, J., Schultz, R., Paterson, S., Evans, A. C., Collins, D. L., Pike, G. B., Kostopolous, P., Das, S., Gerig, G., Styner, M., Gu, H., Sullivan, P., and Wright, G.

Abstract

Preschool-aged siblings of children with ASD are at high-risk (HR) for ASD and related challenges, but little is known about their emerging peer competence and friendships. Parents are the main providers of peer-relationship opportunities during preschool. Understanding parental challenges supporting early peer relationships is needed for optimal peer competence and friendships in children with ASD. We describe differences in peer relationships among three groups of preschool-aged children (15 HR-ASD, 53 HR-NonASD, 40 low-risk, LR), and examine parent support activities at home and arranging community-based peer activities. Children with ASD demonstrated precursors to poor peer competence and friendship outcomes. Parents in the HR group showed resilience in many areas, but providing peer opportunities for preschool-age children with ASD demanded significant adaptations. [Article co-written with the Infant Brain Imaging Study (IBIS) Network.]

Published
2018
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7. Infants who develop autism show smaller inventories of deictic and symbolic gestures at 12 months of age.

Author

Wu, Dennis, Wolff, Jason J., Ravi, Shruthi, Elison, Jed T., Estes, Annette, Paterson, Sarah, St. John, Tanya, Abdi, Hervé, Moraglia, Luke E., Piven, Joseph, Swanson, Meghan R., Hazlett, H. C., Chappell, C., Dager, S., Estes, A., Shaw, D., Botteron, K., McKinstry, R., Constantino, J., and Pruett, J.

Abstract

Gestures are an important social communication skill that infants and toddlers use to convey their thoughts, ideas, and intentions. Research suggests that early gesture use has important downstream impacts on developmental processes, such as language learning. However, autistic children are more likely to have challenges in their gestural development. The current study expands upon previous literature on the differences in gesture use between young autistic and non‐autistic toddlers by collecting data using a parent‐report questionnaire called the MCDI–Words and Gestures at three time points, 12, 18, and 24 months of age. Results (N = 467) showed that high‐likelihood infants who later met diagnostic criteria for ASD (n = 73 HL‐ASD) have attenuated gesture growth from 12 to 24 months for both deictic gestures and symbolic gestures when compared to high‐likelihood infants who later did not meet criteria for ASD (n = 249 HL‐Neg) and low‐likelihood infants who did not meet criteria for ASD (n = 145 LL‐Neg). Other social communicative skills, like play behaviors and imitation, were also found to be impacted in young autistic children when compared to their non‐autistic peers. Understanding early differences in social communication growth before a formal autism diagnosis can provide important insights for early intervention. Lay Summary: As infants learn to talk, they use gestures to communicate. In this study, we used a parent‐report questionnaire to look at the group level differences of gestures in the first 2 years of life by comparing infants who later developed autism to infants who did not develop autism. We found that infants who later developed autism have fewer gestures and a slower rate of gesture growth compared to infants who did not develop autism. Play behaviors and imitation skills were also impacted in young autistic children when compared to their non‐autistic peers. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Subcortical Brain and Behavior Phenotypes Differentiate Infants With Autism Versus Language Delay

Author

Piven, J., Hazlett, H.C., Chappell, C., Dager, S., Estes, A.M., Shaw, D., Botteron, K., McKinstry, R., Constantino, J., Pruett, J., Schultz, R.T., Pandey, J., Paterson, S., Zwaigenbaum, L., Elison, J.T., Wolff, J.J., Evans, A.C., Collins, D.L., Pike, G.B., Fonov, V., Kostopoulos, P., Das, S., Gerig, G., Styner, M., Gu, H., Swanson, Meghan R., Shen, Mark D., Wolff, Jason J., Elison, Jed T., Emerson, Robert W., Styner, Martin A., Hazlett, Heather C., Truong, Kinh, Watson, Linda R., Paterson, Sarah, Marrus, Natasha, Botteron, Kelly N., Pandey, Juhi, Schultz, Robert T., Dager, Stephen R., Zwaigenbaum, Lonnie, Estes, Annette M., and Piven, Joseph

Published
2017
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10. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Author

Sheppard, S.E., Bryant, L., Wickramasekara, R.N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C.J., Faundes, V., Duffourd, Y., Lee, P., Simon, M.C., Cruz, X. de la, Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., March, M., Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z.X., Lim, C.Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., Haeringen, A. van, Snoeck-Streef, I., Chow, P., Hing, A., Graham Jr, J.M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M.F., Kumar, Ajith, Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., Ierland, Y. van, Wilke, M., Slegtenhorst, M. van, Koudijs, S., Chen, J.Y., Dredge, D., Pier, D., Wortmann, S.B., Kamsteeg, E.J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A.S., Weber, S., Perez de la Fuente, R., Sanchez Del Pozo, J., Lezana Rosales, J.M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A.M., Tan, T.Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T.G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F.J., Kuechler, A., Busk, Ø.L., Islam, L., Siedlik, J.A., Henderson, L.B., Juusola, J., Person, R., Schnur, R.E., Vitobello, A., Banka, S., Bhoj, E.J., Stessman, H.A.F., Sheppard, S.E., Bryant, L., Wickramasekara, R.N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C.J., Faundes, V., Duffourd, Y., Lee, P., Simon, M.C., Cruz, X. de la, Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., March, M., Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z.X., Lim, C.Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., Haeringen, A. van, Snoeck-Streef, I., Chow, P., Hing, A., Graham Jr, J.M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M.F., Kumar, Ajith, Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., Ierland, Y. van, Wilke, M., Slegtenhorst, M. van, Koudijs, S., Chen, J.Y., Dredge, D., Pier, D., Wortmann, S.B., Kamsteeg, E.J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A.S., Weber, S., Perez de la Fuente, R., Sanchez Del Pozo, J., Lezana Rosales, J.M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A.M., Tan, T.Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T.G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F.J., Kuechler, A., Busk, Ø.L., Islam, L., Siedlik, J.A., Henderson, L.B., Juusola, J., Person, R., Schnur, R.E., Vitobello, A., Banka, S., Bhoj, E.J., and Stessman, H.A.F.

Abstract

Item does not contain fulltext, Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest (n = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow growth in patient-derived cell lines. KMT5B homozygous knockout mice were smaller in size than their wild-type littermates but did not have significantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature. RNA sequencing of patient lymphoblasts and Kmt5b haploinsufficient mouse brains identified differentially expressed pathways associated with nervous system development and function including axon guidance signaling. Overall, we identified additional pathogenic variants and clinical features in KMT5B-related neurodevelopmental disorder and provide insights into the molecular mechanisms of the disorder using multiple model systems.

Published
2023

11. Stroke - shoulder pain and upper limb function

Author

Carvalho Sá P, Ferro I, Pires C, Pascoal A, Lourenço A, Constantino J, Martins L, Campos I, Valério M, Mendes B, Reis M, and Laíns J

Abstract

Introduction: Stroke causes disability and pain, especially shoulder pain. Often, shoulder pain, has a not completely known mechanism and evolution.1,2 Objectives: Assess shoulder pain and its impact in upper limb function, in patients who had suffered a stroke within 6 months. Methods: Observational study. Included patients at discharge from an inpatient rehabilitation centre, from November 2019 until February 2020. Assessment was done using validated Portuguese versions of the Brief Pain Inventory (BPI) and Fugl Meyer Assessment Scale (FMAS). Results: Of 32 patients screened, 26 fulfilled the inclusion criteria, 7 were females (26,9 %), with mean age of 60,7±10 years. Mean values of BPI Severity and Interference were 3,2±1,6 and 2,4±1,8, respectively. The mean values of the FMAS Motor Function and Passive Articular Movement were 38,8±23,2 and 20,3±2,3, respectively. Analysing the association between both subscales of BPI and both Subscales of FMAS negative correlations were found to be statistically significant with a confidence interval of 95% but there was no correlation between BPI Severity and FMAS motor function. Six patients (23%) received a local injection for shoulder pain. Analysing both groups, BPI Severity and both subscales of FMAS showed a statistically significant difference (p values of 0,0083, 0,0031 and 0,0056, respectively) for a Wilcoxon/Kruskal-Wallis test with a confidence interval of 95%. Discussion/Conclusions: Patients with voluntary upper limb movements after a stroke tend to have less shoulder pain. Local injection was an effective intervention for shoulder pain. The greatest limitation of this study is the small sample size.

Published
2022

12. Early brain development in infants at high risk for autism spectrum disorder

Author

Hazlett, Heather Cody, Gu, Hongbin, Munsell, Brent C., Kim, Sun Hyung, Styner, Martin, Wolff, Jason J., Elison, Jed T., Swanson, Meghan R., Zhu, Hongtu, Botteron, Kelly N., Collins, D. Louis, Constantino, John N., Dager, Stephen R., Estes, Annette M., Evans, Alan C., Fonov, Vladimir S., Gerig, Guido, Kostopoulos, Penelope, McKinstry, Robert C., Pandey, Juhi, Paterson, Sarah, Pruett, John R., Schultz, Robert T., Shaw, Dennis W., Zwaigenbaum, Lonnie, Piven, Joseph, Piven, J., Hazlett, H. C., Chappell, C., Dager, S. R., Estes, A. M., Shaw, D. W., Botteron, K. N., McKinstry, R. C., Constantino, J. N., Pruett Jr, J. R., Schultz, R. T., Paterson, S., Zwaigenbaum, L., Elison, J. T., Wolff, J. J., Evans, A. C., Collins, D. L., Pike, G. B., Fonov, V. S., Kostopoulos, P., Das, S., Gerig, G., Styner, M., and Gu, Core H.

Subjects
Autism -- Risk factors, Infant development -- Health aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Heather Cody Hazlett (corresponding author) [1, 2]; Hongbin Gu [1]; Brent C. Munsell [3]; Sun Hyung Kim [1]; Martin Styner [1]; Jason J. Wolff [4]; Jed T. Elison [5]; [...]

Published
2017
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18. Additional file 1 of Infants later diagnosed with autism have lower canonical babbling ratios in the first year of life

Author

Yankowitz, L. D., Petrulla, V., Plate, S., Tunc, B., Guthrie, W., Meera, S. S., Tena, K., Pandey, J., Swanson, M. R., Pruett, J. R., Cola, M., Russell, A., Marrus, N., Hazlett, H. C., Botteron, K., Constantino, J. N., Dager, S. R., Estes, A., Zwaigenbaum, L., Piven, J., Schultz, R. T., and Parish-Morris, J.

Abstract

Additional file 1: Supplementary Material. Supplementary figure, tables, and text.

Published
2022
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19. Reprogramação de Fluxos de Dados em Redes SDN Baseada na Análise Contextual do Tráfego

Author

Francisco J. Badaró V. Neto, Constantino J. Miguel, and Paulo N. M. Sampaio

Abstract

Software-Defined Networking (SDN) é um paradigma de rede que permite a aplicação de novas técnicas de engenharia de tráfego através da separação do plano de controle do plano de encaminhamento. De forma a dar suporte às características dinâmicas do ambiente computacional (tais como, condições dinâmicas de tráfego e variedade protocolos de rede, mobilidade do usuário, heterogeneidade de dispositivos, entre outros), técnicas inovadoras de engenharia de tráfego devem ser propostas para lidar com aplicações sensíveis às variações de atraso, tais como videoconferência e voz sobre IP. Neste trabalho apresentamos o arcabouço Context-Aware Adaptive Routing Framework SDN (CAARF-SDN), uma solução para otimização do tráfego de redes, compatível com qualquer controlador SDN, através de uma abordagem dinâmica e proativa baseada em contexto. Neste trabalho, está aplicado a otimização de tráfego de voz abordando a mudança da prioridade do fluxo e a mudança de topologia, baseando a noção de contexto nas métricas de qualidade de serviço, experiência e dispositivo (QoE, QoS e QoD) demonstrando a otimização dos recursos de rede em cenários adversos.

Published
2021

20. Examining the factor structure and discriminative utility of the Infant Behavior Questionnaire–Revised in infant siblings of autistic children.

Author

Sung, Sooyeon, Fenoglio, Angela, Wolff, Jason J., Schultz, Robert T., Botteron, Kelly N., Dager, Stephen R., Estes, Annette M., Hazlett, Heather C., Zwaigenbaum, Lonnie, Piven, Joseph, Elison, Jed T., Piven, J., Hazlett, H. C., Chappell, C., Dager, S., Estes, A., Shaw, D., Botteron, K., McKinstry, R., and Constantino, J.

Subjects
AUTISM risk factors, SIBLINGS, QUESTIONNAIRES, AUTISTIC children, TEMPERAMENT in infants, TEST validity, EMOTIONS
Abstract

Using the Infant Behavior Questionnaire–Revised in a longitudinal sample of infant siblings of autistic children (HR; n = 427, 171 female, 83.4% White) and a comparison group of low‐risk controls (LR, n = 200, 86 female, 81.5% White), collected between 2007 and 2017, this study identified an invariant factor structure of temperament traits across groups at 6 and 12 months. Second, after partitioning the groups by familial risk and diagnostic outcome at 24 months, results reveal an endophenotypic pattern of Positive Emotionality at both 6 and 12 months, (HR‐autism spectrum disorder [ASD] < HR‐no‐ASD < LR). Third, increased 'Duration of Orienting' at 12 months was associated with lower scores on the 24‐month developmental outcomes in HR infants. These findings may augment efforts for early identification of ASD. [ABSTRACT FROM AUTHOR]

Published
2022
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23. Twin domains in epitaxial thin MnSi layers on Si(111).

Author

Trabel, M., Tarakina, N. V., Pohl, C., Constantino, J. A., Gould, C., Brunner, K., and Molenkamp, L. W.

Subjects
MANGANESE compounds, SKYRMIONS, PHENOMENOLOGICAL quark model, PARTICLE physics, EPITAXIAL layers, X-ray diffraction
Abstract

Thin layers of MnSi, the first discovered host material of a skyrmion lattice, are epitaxially grown on Si(111) and their crystal properties are investigated by X-ray diffraction and transmission electron microscopy (TEM) measurements. Azimuthal φ-scans of asymmetric X-ray reflections reveal the formation of twinned domains with their unit cell rotated ±30° in plane with respect to the Si unit cell. The intensities of corresponding reflections indicate the same volume fractions for both domain types. Cross-sectional TEM confirms the presence of these domains and reveals a typical domain size of about 200 nm. [ABSTRACT FROM AUTHOR]

Published
2017
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30. Laparoscopic cystogastrostomy

Author

Constantino, J., primary, Logrado, A., additional, Lemos, A., additional, Sá, M., additional, Pereira, J., additional, and Casimiro, C., additional

Published
2019
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35. Resting-state fMRI in sleeping infants more closely resembles adult sleep than adult wakefulness

Author

Mitra, Anish, Snyder, Abraham Z., Tagliazucchi, Enzo Rodolfo, Laufs, Helmut, Elison, Jed, Emerson, Robert W., Shen, Mark D., Wolff, Jason J., Botteron, Kelly N., Dager, Stephen, Estes, Annette M., Evans, A.C., Gerig, Guido, Hazlett, Heather C., Paterson, Sarah J., Schultz, Robert T., Styner, Martin A., Zwaigenbaum, Lonnie, Chappell, C., Estes, A., Shaw, D., Botteron, K., McKinstry, R., Constantino, J., Pruett, J., Schultz, R., Paterson, S., Collins, D.L., Pike, G.B., Fonov, V., Kostopoulos, P., Dasso, Sergio Alberto, Styner, M., Gu, H., Schlaggar, Bradley L., Piven, Joseph, Pruett, John R., and Raichle, Marcus

Subjects
Physiology, Ciencias Físicas, lcsh:Medicine, Audiology, Electroencephalography, Pediatrics, Diagnostic Radiology, purl.org/becyt/ford/1 [https], Families, 0302 clinical medicine, Mathematical and Statistical Techniques, Thalamus, Functional Magnetic Resonance Imaging, Medicine and Health Sciences, lcsh:Science, Children, Default mode network, Brain Mapping, Principal Component Analysis, Multidisciplinary, medicine.diagnostic_test, Radiology and Imaging, 05 social sciences, Brain, Software Engineering, Sleep in non-human animals, Magnetic Resonance Imaging, 3. Good health, Child, Preschool, Physical Sciences, Engineering and Technology, Wakefulness, Anatomy, Psychology, Infants, psychological phenomena and processes, Statistics (Mathematics), CIENCIAS NATURALES Y EXACTAS, Research Article, Adult, medicine.medical_specialty, Computer and Information Sciences, Imaging Techniques, NEUROIMAGING, Otras Ciencias Biológicas, Neuroimaging, Research and Analysis Methods, Non-rapid eye movement sleep, 050105 experimental psychology, Ciencias Biológicas, 03 medical and health sciences, DEVELOPMENT, Diagnostic Medicine, medicine, Connectome, Humans, 0501 psychology and cognitive sciences, Statistical Methods, purl.org/becyt/ford/1.6 [https], Preprocessing, Resting state fMRI, lcsh:R, Biology and Life Sciences, Infant, purl.org/becyt/ford/1.3 [https], SLEEP, Astronomía, Age Groups, People and Places, Multivariate Analysis, lcsh:Q, Population Groupings, Functional magnetic resonance imaging, Physiological Processes, Sleep, 030217 neurology & neurosurgery, Mathematics, Neuroscience
Abstract

Resting state functional magnetic resonance imaging (rs-fMRI) in infants enables important studies of functional brain organization early in human development. However, rs-fMRI in infants has universally been obtained during sleep to reduce participant motion artifact, raising the question of whether differences in functional organization between awake adults and sleeping infants that are commonly attributed to development may instead derive, at least in part, from sleep. This question is especially important as rs-fMRI differences in adult wake vs. sleep are well documented. To investigate this question, we compared functional connectivity and BOLD signal propagation patterns in 6, 12, and 24 month old sleeping infants with patterns in adult wakefulness and non-REM sleep. We find that important functional connectivity features seen during infant sleep closely resemble those seen during adult sleep, including reduced default mode network functional connectivity. However, we also find differences between infant and adult sleep, especially in thalamic BOLD signal propagation patterns. These findings highlight the importance of considering sleep state when drawing developmental inferences in infant rs-fMRI. Fil: Mitra, Anish. Washington University School Of Medicine In St. Louis; Estados Unidos Fil: Snyder, Abraham Z.. Washington University School Of Medicine In St. Louis; Estados Unidos Fil: Tagliazucchi, Enzo Rodolfo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Física de Buenos Aires. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Física de Buenos Aires; Argentina Fil: Laufs, Helmut. Christian-albrechts-universitat Zu Kiel; Alemania Fil: Elison, Jed. University of Minnesota; Estados Unidos Fil: Emerson, Robert W.. University of North Carolina; Estados Unidos Fil: Shen, Mark D.. University of North Carolina; Estados Unidos Fil: Wolff, Jason J.. University of Minnesota; Estados Unidos Fil: Botteron, Kelly N.. Washington University School Of Medicine In St. Louis; Estados Unidos Fil: Dager, Stephen. University Of Washington, Seattle; Estados Unidos Fil: Estes, Annette M.. University Of Washington, Seattle; Estados Unidos Fil: Evans, A.C.. McGill University. Montreal Neurological Institute and Hospital; Canadá Fil: Gerig, Guido. University of New York; Estados Unidos Fil: Hazlett, Heather C.. University of North Carolina; Estados Unidos Fil: Paterson, Sarah J.. University of Pennsylvania; Estados Unidos Fil: Schultz, Robert T.. University of Pennsylvania; Estados Unidos Fil: Styner, Martin A.. University of North Carolina; Estados Unidos Fil: Zwaigenbaum, Lonnie. University of Alberta; Canadá Fil: Chappell, C.. Ibis Network Pi; Estados Unidos Fil: Estes, A.. University Of Washington, Seattle; Estados Unidos Fil: Shaw, D.. University Of Washington, Seattle; Estados Unidos Fil: Botteron, K.. University Of Washington, Seattle; Estados Unidos Fil: McKinstry, R.. University Of Washington, Seattle; Estados Unidos Fil: Constantino, J.. University Of Washington, Seattle; Estados Unidos Fil: Pruett, J.. University Of Washington, Seattle; Estados Unidos Fil: Schultz, R.. The Children?s Hospital Of Philadelphia; Estados Unidos Fil: Paterson, S.. The Children?s Hospital Of Philadelphia; Estados Unidos Fil: Collins, D.L.. McGill University. Montreal Neurological Institute and Hospital; Canadá Fil: Pike, G.B.. McGill University. Montreal Neurological Institute and Hospital; Canadá Fil: Fonov, V.. McGill University. Montreal Neurological Institute and Hospital; Canadá Fil: Kostopoulos, P.. McGill University. Montreal Neurological Institute and Hospital; Canadá Fil: Dasso, Sergio Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Física de Buenos Aires. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Física de Buenos Aires; Argentina Fil: Styner, M.. The University Of North Carolina System; Estados Unidos Fil: Gu, H.. Statistical Analysis Core; Estados Unidos Fil: Schlaggar, Bradley L.. Washington University School Of Medicine In St. Louis; Estados Unidos Fil: Piven, Joseph. University of North Carolina; Estados Unidos Fil: Pruett, John R.. Washington University School Of Medicine In St. Louis; Estados Unidos Fil: Raichle, Marcus. Washington University School Of Medicine In St. Louis; Estados Unidos

Published
2017

36. Increased Extra-axial Cerebrospinal Fluid in High-Risk Infants Who Later Develop Autism

Author

McKinstry, R.C., Constantino, J., Schultz, R.T., Styner, M.A., Kostopoulos, P., Emerson, R.W., Zwaigenbaum, L., Botteron, K., Dager, S.R., Gu, H., Styner, M., Swanson, M.R., Kim, S.H., Nordahl, C.W., Schultz, R., Infant Brain Imaging Study Network, Pike, G.B., Collins, D.L., Fonov, V.S., Shaw, D., Das, S., Gerig, G., Paterson, S., Amaral, D.G., Shen, M.D., Piven, J., Elison, J.T., Hazlett, H.C., Chappell, C., Estes, A.M., McKinstry, R., Elison, J., Pruett, J., Evans, A.C., and Botteron, K.N.

Subjects
mental disorders, behavioral disciplines and activities
Abstract

Background We previously reported that infants who developed autism spectrum disorder (ASD) had increased cerebrospinal fluid (CSF) in the subarachnoid space (i.e., extra-axial CSF) from 6 to 24 months of age. We attempted to confirm and extend this finding in a larger independent sample. Methods A longitudinal magnetic resonance imaging study of infants at risk for ASD was carried out on 343 infants, who underwent neuroimaging at 6, 12, and 24 months. Of these infants, 221 were at high risk for ASD because of an older sibling with ASD, and 122 were at low risk with no family history of ASD. A total of 47 infants were diagnosed with ASD at 24 months and were compared with 174 high-risk and 122 low-risk infants without ASD. Results Infants who developed ASD had significantly greater extra-axial CSF volume at 6 months compared with both comparison groups without ASD (18% greater than high-risk infants without ASD; Cohen's d = 0.54). Extra-axial CSF volume remained elevated through 24 months (d = 0.46). Infants with more severe autism symptoms had an even greater volume of extra-axial CSF from 6 to 24 months (24% greater at 6 months, d = 0.70; 15% greater at 24 months, d = 0.70). Extra-axial CSF volume at 6 months predicted which high-risk infants would be diagnosed with ASD at 24 months with an overall accuracy of 69% and corresponding 66% sensitivity and 68% specificity, which was fully cross-validated in a separate sample. Conclusions This study confirms and extends previous findings that increased extra-axial CSF is detectable at 6 months in high-risk infants who develop ASD. Future studies will address whether this anomaly is a contributing factor to the etiology of ASD or an early risk marker for ASD.

Published
2017
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42. Coleta de dados em redes SDN com análise contextual.

Author

Miguel, Constantino J., Neto, Francisco J. B. V., Santos, Jorge A., and Sampaio, Paulo N. M.

Abstract

Copyright of CISTI (Iberian Conference on Information Systems & Technologies / Conferência Ibérica de Sistemas e Tecnologias de Informação) Proceedings is the property of Conferencia Iberica de Sistemas Tecnologia de Informacao and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2019

44. A ecografia como instrumento de diagnóstico – um caso de estudo

Author

Matos, A., Henriques, C., Pereira, J., Afonso, A., and Constantino, J.

Subjects
Regressão Logística, Pancreatite Aguda, Acuidade Ecográfica
Abstract

Equipas interdisciplinares estão na base do sucesso de muitos trabalhos de investigação. Um exemplo disso é a colaboração da estatística com as ciências da saúde. Neste trabalho, recorrendo a testes não paramétricos e a modelos de regressão logística, foi possível contribuir para o conhecimento da não acuidade, da ecografia no diagnóstico de colecistite aguda na presença de pancreatite aguda. Deste modo, este estudo contribui para um melhor diagnóstico clínico que será determinante na terapêutica a adotar. info:eu-repo/semantics/publishedVersion

Published
2016

45. Subcortical Brain and Behavior Phenotypes Differentiate Infants With Autism Versus Language Delay

Author

Swanson, Meghan R., primary, Shen, Mark D., additional, Wolff, Jason J., additional, Elison, Jed T., additional, Emerson, Robert W., additional, Styner, Martin A., additional, Hazlett, Heather C., additional, Truong, Kinh, additional, Watson, Linda R., additional, Paterson, Sarah, additional, Marrus, Natasha, additional, Botteron, Kelly N., additional, Pandey, Juhi, additional, Schultz, Robert T., additional, Dager, Stephen R., additional, Zwaigenbaum, Lonnie, additional, Estes, Annette M., additional, Piven, Joseph, additional, Piven, J., additional, Hazlett, H.C., additional, Chappell, C., additional, Dager, S., additional, Estes, A.M., additional, Shaw, D., additional, Botteron, K., additional, McKinstry, R., additional, Constantino, J., additional, Pruett, J., additional, Schultz, R.T., additional, Pandey, J., additional, Paterson, S., additional, Zwaigenbaum, L., additional, Elison, J.T., additional, Wolff, J.J., additional, Evans, A.C., additional, Collins, D.L., additional, Pike, G.B., additional, Fonov, V., additional, Kostopoulos, P., additional, Das, S., additional, Gerig, G., additional, Styner, M., additional, and Gu, H., additional

Published
2017
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46. OlympiA: A randomized phase III trial of olaparib as adjuvant therapy in patients with high-risk HER2-negative breast cancer (BC) and a germline BRCA1/2 mutation (gBRCAm)

Author

Tutt, A., primary, Kaufman, B., additional, Garber, J., additional, Gelber, R., additional, McFadden, E., additional, Goessl, C., additional, Viale, G., additional, Geyer, C., additional, Zardavas, D., additional, Arahmani, A., additional, Fumagalli, D., additional, De Azambuja, E., additional, Ponde, N., additional, Herbolsheimer, P., additional, Wu, W., additional, Constantino, J., additional, and Rastogi, P., additional

Published
2017
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47. The Emergence of Network Inefficiencies in Infants With Autism Spectrum Disorder

Author

Lewis, John D., primary, Evans, Alan C., additional, Pruett, John R., additional, Botteron, Kelly N., additional, McKinstry, Robert C., additional, Zwaigenbaum, Lonnie, additional, Estes, Annette M., additional, Collins, D. Louis, additional, Kostopoulos, Penelope, additional, Gerig, Guido, additional, Dager, Stephen R., additional, Paterson, Sarah, additional, Schultz, Robert T., additional, Styner, Martin A., additional, Hazlett, Heather C., additional, Piven, Joseph, additional, Piven, J., additional, Hazlett, H.C., additional, Chappell, C., additional, Dager, S.R., additional, Estes, A.M., additional, Shaw, D., additional, Botteron, K.N., additional, McKinstry, R.C., additional, Constantino, J., additional, Pruett, J.R., additional, Schultz, R.T., additional, Paterson, S., additional, Zwaigenbaum, L., additional, Elison, J.T., additional, Evans, A.C., additional, Collins, D.L., additional, Pike, G.B., additional, Fonov, V., additional, Kostopoulos, P., additional, Das, S., additional, Gerig, G., additional, Styner, M.A., additional, and Gu, H., additional

Published
2017
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48. Increased Extra-axial Cerebrospinal Fluid in High-Risk Infants Who Later Develop Autism

Author

Shen, Mark D., primary, Kim, Sun Hyung, additional, McKinstry, Robert C., additional, Gu, Hongbin, additional, Hazlett, Heather C., additional, Nordahl, Christine W., additional, Emerson, Robert W., additional, Shaw, Dennis, additional, Elison, Jed T., additional, Swanson, Meghan R., additional, Fonov, Vladimir S., additional, Gerig, Guido, additional, Dager, Stephen R., additional, Botteron, Kelly N., additional, Paterson, Sarah, additional, Schultz, Robert T., additional, Evans, Alan C., additional, Estes, Annette M., additional, Zwaigenbaum, Lonnie, additional, Styner, Martin A., additional, Amaral, David G., additional, Piven, Joseph, additional, Piven, J., additional, Hazlett, H.C., additional, Chappell, C., additional, Dager, S., additional, Estes, A., additional, Shaw, D., additional, Botteron, K., additional, McKinstry, R., additional, Constantino, J., additional, Pruett, J., additional, Schultz, R., additional, Zwaigenbaum, L., additional, Elison, J., additional, Evans, A.C., additional, Collins, D.L., additional, Pike, G.B., additional, Fonov, V., additional, Kostopoulos, P., additional, Das, S., additional, Gerig, G., additional, Styner, M., additional, and Gu, H., additional

Published
2017
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