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2,906 results on '"Sahin, Mustafa"'

1. AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient.

Author

Dowling, James, Pirovolakis, Terry, Devakandan, Keshini, Stosic, Ana, Pidsadny, Mia, Nigro, Elisa, Sahin, Mustafa, Ebrahimi-Fakhari, Darius, Messahel, Souad, Varadarajan, Ganapathy, Greenberg, Barry, Chen, Xin, Minassian, Berge, Cohn, Ronald, Bonnemann, Carsten, and Gray, Steven

Subjects
Humans, Dependovirus, Spastic Paraplegia, Hereditary, Genetic Therapy, Child, Preschool, Male, Genetic Vectors, Treatment Outcome
Abstract

There are more than 10,000 individual rare diseases and most are without therapy. Personalized genetic therapy represents one promising approach for their treatment. We present a road map for individualized treatment of an ultra-rare disease by establishing a gene replacement therapy developed for a single patient with hereditary spastic paraplegia type 50 (SPG50). Through a multicenter collaboration, an adeno-associated virus-based gene therapy product carrying the AP4M1 gene was created and successfully administered intrathecally to a 4-year-old patient within 3 years of diagnosis as part of a single-patient phase 1 trial. Primary endpoints were safety and tolerability, and secondary endpoints evaluated efficacy. At 12 months after dosing, the therapy was well tolerated. No serious adverse events were observed, with minor events, including transient neutropenia and Clostridioides difficile gastroenteritis, experienced but resolved. Preliminary efficacy measures suggest a stabilization of the disease course. Longer follow-up is needed to confirm the safety and provide additional insights on the efficacy of the therapy. Overall, this report supports the safety of gene therapy for SPG50 and provides insights into precision therapy development for rare diseases. Clinical trial registration: NCT06069687 .

Published
2024

2. Clinical variants paired with phenotype: A rich resource for brain gene curation.

Author

Chopra, Maya, Savatt, Juliann, Bingaman, Taylor, Good, Molly, Morgan, Alexis, Cooney, Caitlin, Rossel, Allison, VanHoute, Bryanna, Cordova, Ineke, Mahida, Sonal, Lanzotti, Virginia, Baldridge, Dustin, Gurnett, Christina, Piven, Joseph, Hazlett, Heather, Pomeroy, Scott, Sahin, Mustafa, Payne, Philip, Riggs, Erin, and Constantino, John

Subjects
Autism, Gene curation, Intellectual disability, Neurodevelopmental disorders, Variant of uncertain significance, Humans, Genetic Variation, Databases, Genetic, Genetic Testing, Phenotype, Brain
Abstract

PURPOSE: Clinically ascertained variants are under-utilized in neurodevelopmental disorder research. We established the Brain Gene Registry (BGR) to coregister clinically identified variants in putative brain genes with participant phenotypes. Here, we report 179 genetic variants in the first 179 BGR registrants and analyze the proportion that were novel to ClinVar at the time of entry and those that were absent in other disease databases. METHODS: From 10 academically affiliated institutions, 179 individuals with 179 variants were enrolled into the BGR. Variants were cross-referenced for previous presence in ClinVar and for presence in 6 other genetic databases. RESULTS: Of 179 variants in 76 genes, 76 (42.5%) were novel to ClinVar, and 62 (34.6%) were absent from all databases analyzed. Of the 103 variants present in ClinVar, 37 (35.9%) were uncertain (ClinVar aggregate classification of variant of uncertain significance or conflicting classifications). For 5 variants, the aggregate ClinVar classification was inconsistent with the interpretation from the BGR site-provided classification. CONCLUSION: A significant proportion of clinical variants that are novel or uncertain are not shared, limiting the evidence base for new gene-disease relationships. Registration of paired clinical genetic test results with phenotype has the potential to advance knowledge of the relationships between genes and neurodevelopmental disorders.

Published
2024

3. Sensitivity of frozen section analysis in patients with ovarian adult granulosa cell tumor, a multi-center study

Author

Ureyen, Isin, Toptas, Tayfun, Tokalıoğlu, Alp, Sahin, Mustafa, Oktar, Okan, Kole, Merve, Alcı, Aysun, Ozturk, Cagatayhan, Ozmen, Fatma, Akturk, Selin Esen, Erdogan, Ozgur, Ersak, Burak, Kilic, Fatih, Bas, Sevda, Cakir, Caner, Kocak, Ozgur, Kilic, Çiğdem, Ucar, Gokhan, Korkmaz, Vakkas, Narin, Mehmet Ali, Uncu, Dogan, Sanci, Muzaffer, Kimyon Comert, Gunsu, Ozdal, Bulent, Tekin Moralıoglu, Ozlem, Engin Ustun, Yaprak, Boran, Nurettin, Taskin, Salih, Tasci, Tolga, Ortac, Firat, and Turan, Taner

Published
2024
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6. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Author

Levy, Tess, Gluckman, Jacob, Siper, Paige M., Halpern, Danielle, Zweifach, Jessica, Filip-Dhima, Rajna, Holder, Jr., J. Lloyd, Trelles, M. Pilar, Johnson, Kristina, Bernstein, Jonathan A., Berry-Kravis, Elizabeth, Powell, Craig M., Soorya, Latha Valluripalli, Thurm, Audrey, Buxbaum, Joseph D., Sahin, Mustafa, Kolevzon, Alexander, and Srivastava, Siddharth

Published
2024
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7. Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

Author

Tokatly Latzer, Itay, Roullet, Jean-Baptiste, Afshar-Saber, Wardiya, Lee, Henry H. C., Bertoldi, Mariarita, McGinty, Gabrielle E., DiBacco, Melissa L., Arning, Erland, Tsuboyama, Melissa, Rotenberg, Alexander, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Juliá-Palacios, Natalia, Gibson, K. Michael, Sahin, Mustafa, and Pearl, Phillip L.

Published
2024
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8. High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia

Author

Saffari, Afshin, Brechmann, Barbara, Böger, Cedric, Saber, Wardiya Afshar, Jumo, Hellen, Whye, Dosh, Wood, Delaney, Wahlster, Lara, Alecu, Julian E., Ziegler, Marvin, Scheffold, Marlene, Winden, Kellen, Hubbs, Jed, Buttermore, Elizabeth D., Barrett, Lee, Borner, Georg H. H., Davies, Alexandra K., Ebrahimi-Fakhari, Darius, and Sahin, Mustafa

Published
2024
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10. Mediating Role of Cognitive Distortions in Negative Future Expectations That Are Affecting Occupational Anxiety

Author

Özgöl, Mustafa, Sahin, Mustafa, and Sarikaya, Ismail

Abstract

It's assumed that university students' negative expectations for the future, combined with their prevalent resort to cognitive distortions, will heighten their anxiety regarding the profession. In this context, this study attempts to uncover the mediating role of cognitive distortions regarding the effects of negative expectations for the future on occupational anxiety. The findings of the mediation analysis demonstrated that cognitive distortions have a mediating role in the relationship between negative future expectations and occupational anxiety. Furthermore, the variables included in the model account for 22% of the total variance in occupational anxiety.

Published
2022

12. Investigation of Body Perception and Personality Traits of Individuals According to Their Sporting Status

Author

Sahin, Mustafa and Tüfekçibasi, Seda

Abstract

This study aims to examine the body perception and personality traits of individuals who regularly do sports and those who do not. The research was conducted with 222 people who were reached by an convenient sampling method. Participants were provided with a personal information form prepared to obtain demographic information, Body Image Scale to measure body perception, and Adjective Based Personality Test to measure personality traits via Google Forms. The data obtained were analyzed using the SPSS 22.0 program. To measure whether the body perception and personality traits differ according to the regular exercise variable, an independent t-test was applied. According to the analysis result; body perception, extraversion, conscientiousness, and openness to experience differ significantly between individuals who do regular sports and those who do not. While body perception differs in favor of individuals who do not practice sports; Extraversion, conscientiousness, and openness to experience differ in favor of individuals who do sports regularly. Agreeableness and neuroticism do not differ significantly. The findings were discussed based on the literature, and suggestions for further research were presented. [This full text was presented at the 4th Academic Sports Research Congress hosted by the Academic Sports Research Association in Trabzon on 7-9 October 2020.]

Published
2021

13. Examining the Experiences of Counselor Trainees towards Practices in Individual Counseling Practicum Course

Author

Saki, Vildan and Sahin, Mustafa

Abstract

The aim of this study is to examine the experiences of the counseling trainees regarding the first practices they have carried out within the scope of Individual Counseling Practicum course. In the current study, phenomenological method based on qualitative approach was used. The sample group of the research consists of 20 participants who are senior students of the Counseling and Guidance undergraduate program and have completed their counseling practices. Data were collected through a semi-structured interview form and analyzed by inductive thematic analysis method. The experiences of the trainees were classified under 6 categories as: (1) the problems faced by trainees; (2) the resources they use to solve their problems; (3) their perceptions and experiences of their client's culture; (4) contributions of the practices to them; (5) their preferences for clients; and (6) the use of Culturally Sensitive Counseling course contents in counseling practices. The findings of the present study concluded that while the trainees were anxious due to the problems which they encountered during the practicum; they enjoyed many contributions of experiencing counseling. Based on the findings, some recommendations were made.

Published
2021

14. Examining the Effect of Orienteering on the Development of Attention, Metacognitive Awareness and Problem-Solving Skills of Primary School Students with ADHD

Author

Uzuner, Fatma Gül and Sahin, Mustafa

Abstract

In addition to medical treatment, games, sports or exercises can be used to reduce the symptoms of children diagnosed with ADHD. In this study, the effect of orienteering on the development of attention, metacognitive awareness, and perceptions of problem-solving skills of primary school students diagnosed with ADHD was examined. In the study, orienteering was done on students with ADHD aged 9-10. As a result of the study, it has been observed that orienteering has positive effects on developing of primary school students with ADHD attention, metacognitive awareness, and the perceptions of problem-solving skills.

Published
2021

16. Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial

Author

Bebin, E. Martina, Krueger, Darcy, Sahin, Mustafa, Flamini, Robert, Sergott, Robert C., Cutter, Gary, McPherson, Tarrant, Peri, Kalyani, Krefting, Jessica, Porter, Brenda, Peters, Jurriaan M., Taub, Katherine, Litt, Brian, Wu, Joyce, Lagory, Denise, Korf, Bruce, Messiaen, Ludwig, O'Kelley, Sarah, Biasini, Fred, Byars, Anna, Roberds, Steven L., Rushing, Gabrielle, Griffith, Molly, Davis, Peter, Hansen, Ellen, Arcasoy, Emine, Phillips, Jennifer, Solidum, Rayann, Rajaraman, Rajsekar, Gulsrud, Amanda, Solis, Natalie, Randle, Stephanie, Patrick, Kristina, Lee-Eng, Jacqueline, Frost, Mike D., Branson, Janet, Ellis, Sarah, Wong, Michael, White, Desiree, Novak, Olga, Fasciola, Ashley, Werner, Klaus, Lorenzi, Jill, Layer, Marcus, Thomas, Allison, Chanbers, Emily, McClintock, William M., Berl, Madison, Elling, Nancy, Kassoff, Bergen, Hardie, Kinaya, Nolan, Danielle, DeBastos, Angela, Batchelder, Christine, Koening, Mary Kay, Northrup, Hope, Au, Kit Su, Pearson, Deborah, Mansour, Rosleen, Farach, Laura, Salazar, Elida, Farach, Laura S., Richard, Melissa A., Wulsin, Aynara C., Bebin, Elizabeth M., Krueger, Darcy A., Porter, Brenda E., McPherson, Tarrant O., Taub, Katherine S., Randle, Stephanie C., Koenig, Mary Kay, Frost, Michael D., Nolan, Danielle A., and Au, Kit Sing

Published
2024
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17. Return of genetic research results in 21,532 individuals with autism

Author

Aarrestad, Alexandria, Abbeduto, Leonard, Aberbach, Gabriella, Aberle, Shelley, Adegbite, Adediwura, Adeniji, Debbie, Aguilar, Maria, Ahlers, Kaitlyn, Albright, Charles, Alessandri, Michael, Algaze, Zach, Alkazi, Jasem, Amador, Raquel, Amaral, David, Amon, Logan, Amundsen, Leonor, Andrus, Alicia, Anglo, Claudine, Annett, Robert, Arar, Adam, Arnold, Jonathan, Arriaga, Ivette, Arzate, Eduardo, Ashley, Raven, Aslamy, Leilemah, Baalman, Kelli, Baer, Melissa, Bahi, Ethan, Bailey, Joshua, Baldlock, Zachary, Banks, Grabrielle, Baraghoshi, Gabriele, Bardett, Nicole, Barrett, Mallory, Bartholomew, Yan, Bates, Heidi, Beard, Katie, Becerra, Juana, Beckwith, Malia, Beechan, Paige, Beeson, Landon, Beeson, Josh, Bell, Brandi, Belli, Monica, Bentley, Dawn, Berger, Natalie, Berman, Anna, Bernier, Raphael, Berry-Kravis, Elizabeth, Berwanger, Mary, Birdwell, Shelby, Blank, Elizabeth, Bond, Rebecca, Booker, Stephanie, Bordofsky, Aniela, Bower, Erin, Bowers, Lukas, Bradley, Catherine, Brayer, Heather, Brewster, Stephanie, Brown, Hallie, Brown, Alison, Brown, Melissa, Buck, Catherine, Buescher, Cate, Bullon, Kayleigh, Buraima, Joy, Butter, Eric, Caamano, Amalia, Cacciato, Nicole, CaI, Wenteng, Calderon, Norma, Callahan, Kristen, Camba, Alexies, Campo-Soria, Claudia, Caprara, Giuliana, Carbone, Paul, Carpenter, Laura, Carpenter, Sarah, Casseus, Myriam, Casten, Lucas, Catherine, Sullivan, Chappo, Ashley, Chavez, Kimberly, Cheathem-Johnson, Randi, Chen, Tia, Chintalapalli, Sharmista, Cho, Daniel, Choi, Y.B., Clark, Nia, Clark, Renee, Coffman, Marika, Coleman, Laura, Coleman, Kendra, Collins, Alister, Columbi, Costanza, Comitre, Joaquin, Constant, Stephanie, Contra, Arin, Conyers, Sarah, Cooper, Lindsey, Cooper, Cameron, Coppola, Leigh, Corlett, Allison, Corrales, Lady, Correa, Dahriana, Cottrell, Hannah, Coughlin, Michelle, Courchesne, Eric, Coury, Dan, Crocetti, Deana, Croson, Carrie, Crowell, Judith, Cubells, Joseph, Cunningham, Sean, Currin, Mary, Cutri, Michele, D'Ambrosi, Sophia, David, Giancarla, Davis, Ayana, Davis, Sabrina, Decius, Nickelle, Delaporte, Jennifer, DeMarco, Lindsey, Dennis, Brandy, Deronda, Alyssa, Dhawan, Esha, Dichter, Gabriel, Doan, Ryan, Dominick, Kelli, Ortega, Leonardo Dominquez, Doyle, Erin, Drayton, Andrea, DuBois, Megan, Dudley, Johnny, Duhon, Gabrielle, Duncan, Grabrielle, Duncan, Amie, Dunlevy, Megan, Dyer, Meaghan, Earl, Rachel, Edmonson, Catherine, Eldred, Sara, Elliott, Nelita, Emery, Brooke, Enright, Barbara, Erb, Sarah, Erickson, Craig, Esler, Amy, Estevez, Liza, Fanta, Anne, Fassler, Carrie, Fatemi, Ali, Fazal, Faris, Featherston, Marilyn, Ferguson, Jonathan, Fish, Angela, Fitzgerald, Kate, Flores, Kathleen, Fombonne, Eric, Foster, Margaret, Fowler, Tiffany, Fox, Emma, Fox, Emily, Francis, Sunday, Frayne, Margot, Froman, Sierra, Fuller, Laura, Galbraith, Virginia, Gallimore, Dakota, Gambrell, Ariana, Gazestani, Vahid, Geisheker, Madeleine R., Gerdts, Jennifer, Geschwind, Daniel, Ghaziuddin, Mohammad, Ghina, Haidar, Given, Erin, Goetz, Mykayla, Gong, Jared, Gonring, Kelsey, Gonzalez, Natalia, Gonzalez, Antonio, Goodwill, Ellie, Gordon, Rachel, Graham, Carter, Gray, Catherine, Grimes, Ellen, Griswold, Anthony, Gu, Pan, Guilfoyle, Janna, Gulsrud, Amanda, Gunderson, Jaclyn, Gunter, Chris, Gupta, Sanya, Gupta, Abha, Gutierrez, Anibal, Gwynette, Frampton, Haidar, Ghina, Hale, Melissa, Haley, Monica, Hall, Lauren K., Hamer, Kira, Hamilton, Piper, Hanna, Nathan, Hardan, Antonio, Harkins, Christina, Harrell, Eldric, Harris, Jill, Harris, Nina, Hayes, Caitlin, Hayse, Braden, Heckers, Teryn, Heerwagen, Kathryn, Hennelly, Daniela, Herbert, Lynette, Hermle, Luke, Hernandez, Briana, Herrera, Clara, Hess, Amy, Heyman, Michelle, Higgins, Lorrin, Phillips, Brittani Hilscher, Hirst, Kathy, Ho, Theodore, Hoffman, Emily, Hojlo, Margaret, Honaker, Makayla, Hong, Michael, Hooks, Gregory, Horner, Susannah, Horton, Danielle, Hounchell, Melanie, Howes, Dain, Huang-Storm, Lark, Hunter, Samantha, Hutter, Hanna, Hyde, Emily, Ibanez, Teresa, Ingram, Kelly, Istephanous, Dalia, Jacob, Suma, Jarratt, Andrea, Jelinek, Anna, Johnson, Mary, Jones, Mya, Jones, Garland, Jones, Mark, Jorgenson, Alissa, Judge, Jessyca, Kalb, Luther, Kalmus, Taylor, Kang, Sungeun, Kangas, Elizabeth, Kanne, Stephen, Kaplan, Hannah, Khan, Sara, Kim, Sophy, Kim, Annes, Kitaygordsky, Alex, Klaiman, Cheryl, Klever, Adam, Koene, Hope, Koomar, Tanner, Koza, Melinda, Kramer, Sydney, Krushena, Meghan, Kurtz-Nelson, Eva, Lamarche, Elena, Lampert, Erica, Lamy, Martine, Landa, Rebecca, Lebron-Cruz, Alexa, Lechniak, Holly, Lee, Soo, Leight, Bruce, Lerner, Matthew, Lesher, Laurie, Lewis, Courtney, Li, Hai, Li, Deana, Libove, Robin, Lillie, Natasha, Limon, Danica, Limpoco, Desi, Lin, Melody, Littlefield, Sandy, Lobisi, Brandon, Locarno, Laura, Long, Nancy, Long, Bailey, Long, Kennadie, Lopez, Marilyn, Lovering, Taylor, Lozano, Ivana, Lucio, Daniella, Luo, Addie, Luu, My-Linh, Lyon, Audrey, Ma, Julia, Madi, Natalie, Malloch, Lacy, Mankaryous, Reanna, Manning, Patricia, Mantey, Alvin, Marini, Richard, Marsden, Alexandra, Marwali, Clarissa, Marzano, Gabriela, Mason, Andrew, Mastel, Sarah, Mathai, Sheena, Matthews, Emily, Matusoff, Emma, Maxim, Clara, McCarthy, Caitlin, McClellen, Lynn, Mccoy, Nicole, McCullough, Kaylen, McDonald, Brooke, McGalliard, Julie, McIntyre, Anne-Marie, McKenna, Brooke, McKenzie, Alexander, McTaggart, Megan, Meinen, Hannah, Melnyk, Sophia, Miceli, Alexandra, Michaels, Sarah, Michaelson, Jacob, Milan, Estefania, Miller, Melissa, Milliken, Anna, Minton, Kyla, Mitchell, Terry, Gunn, Amanda Moffitt, Mohiuddin, Sarah, Money, Gina, Montezuma, Jessie, Mooney, Lindsey, Moore, Margo, Morales-Lara, Amy, Morgan, Kelly, Morotti, Hadley, Morrier, Michael, Munoz, Maria, Lavanderos, Ambar Munoz, Murali, Shwetha, Murillo, Karla, Murray, Kailey, Myhre, Erin, Neely, Jason, Neuhaus, Emily, Newman, Olivia, Nguyen, Richard, Nguyen, Victoria, Nichols, Evelyn, Nicholson, Amy, Niederhauser, Melanie, Norris, Megan, Norton, Shai, Nowell, Kerri, O’Brien, Kaela, O’Meara, Mitchell, O’Neil, Molly, O'Roak, Brian, Ocampo, Edith, Ochoa-Lubinoff, Cesar, Oft, Anna, Orobio, Jessica, Ortiz, Crissy, Ousley, Opal, Oyeyemi, Motunrayo, Pacheco, Lillian, Palacios, Valeria, Palmer, Samiza, Palmeri, Isabella, Pama, Katrina, Pandey, Juhi, Paolicelli, Anna Marie, Parker, Jaylaan, Patterson, Morgan, Pawlowski, Katherine, Pedapati, Ernest, Pepper, Michah, Perrin, Jeremy, Peura, Christine, Phillips, Diamond, Pierce, Karen, Piven, Joseph, Plate, Juhi, Polanco, Jose, Pott-Schmidt, Natalie, Pramparo, Tiziano, Pratt, Taleen, Prock, Lisa, White, Stormi Pulver, Qi, Hongjian, Qiu, Shanping, Queen, Eva, Questel, Marcia, Quinones, Ashley, Rambeck, Desiree, Randall, Shelley, Ranganathan, Vaikunt, Raymond, Laurie, Rayos, Madelyn, Real, Kelly, Rhea, Anna, Rice, Catherine, Richardson, Harper, Riffle, Stacy, Robertson, Tracy, Roby, Erin, Rocha, Ana, Roche, Casey, Rodriguez, Nicki, Rodriguez, Bianca, Roeder, Katherine, Rojas, Daniela, Rosewater, Jacob, Rosselott, Hilary, Runyan, Payton, Russo, Nicole, Rutter, Tara, Ruzzo, Elizabeth, Sahin, Mustafa, Salem, Fatima, Sanchez, Rebecca, Sanders, Muave, Sanderson, Tayler, Sandhu, Sophie, Sanford, Katelyn, Santangelo, Susan, Santulli, Madeline, Sarver, Dustin, Savage, Madeline, Scherr, Jessica, Schneider, Hoa, Schools, Hayley, Schoonover, Gregory, Schultz, Robert, Sebolt, Cheyanne, Shaffer, Rebecca, Shameen, Sana, Sherard, Curry, Shikov, Roman, Shillington, Amelle, Shir, Mojeeb, Shocklee, Amanda, Shrier, Clara, Shulman, Lisa, Siegel, Matt, Simon, Andrea, Simon, Laura, Singh, Arushi, Singh, Vini, Smalley, Devin, Smith, Kaitlin, Smith, Chris, Smith, Ashlyn, Soorya, Latha, Soscia, Julia, Soucy, Aubrie, Stchur, Laura, Steele, Morgan, Srishyla, Diksha, Stamps, Danielle, Sussman, Nicole, Swanson, Amy, Sweeney, Megan, Sziklay, Anthony, Tafolla, Maira, Taiba, Jabeen, Takahashi, Nicole, Terroso, Sydney, Strathearn, Camilla, Thomas, Taylor, Thompson, Samantha, Touchette, Ellyn, Townsend, Laina, Trog, Madison, Tsai, Katherine, Tseng, Angela, Tshering, Paullani, Tso, Ivy, Valicenti-Mcdermott, Maria, VanMetre, Bonnie, VanWade, Candace, Turecki, Samuel, Vargo, Kerrigan, Vattuone, Cristiana, Veenstra-Vanderweele, Jeremy, Vehorn, Alison, Benitez Velazquez, Alan Jesus, Verdi, Mary, Villalobos, Michele, Vrittamani, Lakshmi, Wainer, Allison, Wallace, Jermel, Walston, Corrie, Wang, Jiayaho, Ward, Audrey, Warren, Zachary, Washington, Katherine, Westerkamp, Grace, White, Sabrina, Wink, Logan, Winoto, Fiona, Winters, Sarah, Wodka, Ericka, Xavier, Samantha, Xu, Sidi, Yang, Yi, Yang, WhaJames, Yang, Amy, Yinger, Meredith, Yu, Timothy, Zaro, Christopher, Zha, Cindy, Zhang, Haicang, Zhao, Haoquan, Zick, Allyson, Salmon, Lauren Ziegelmayer, Wright, Jessica R., Astrovskaya, Irina, Barns, Sarah D., Goler, Alexandra, Zhou, Xueya, Shu, Chang, Snyder, LeeAnne Green, Han, Bing, Shen, Yufeng, Volfovsky, Natalia, Hall, Jacob B., Feliciano, Pamela, and Chung, Wendy K.

Published
2024
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20. Newborn screening for neurodevelopmental diseases: Are we there yet?

Author

Chung, Wendy K, Berg, Jonathan S, Botkin, Jeffrey R, Brenner, Steven E, Brosco, Jeffrey P, Brothers, Kyle B, Currier, Robert J, Gaviglio, Amy, Kowtoniuk, Walter E, Olson, Colleen, Lloyd‐Puryear, Michele, Saarinen, Annamarie, Sahin, Mustafa, Shen, Yufeng, Sherr, Elliott H, Watson, Michael S, and Hu, Zhanzhi

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Brain Disorders, Infant Mortality, Prevention, Intellectual and Developmental Disabilities (IDD), Pediatric Research Initiative, Perinatal Period - Conditions Originating in Perinatal Period, Pediatric, Reproductive health and childbirth, Good Health and Well Being, Infant, Infant, Newborn, Humans, Neonatal Screening, Pilot Projects, Neurodevelopmental Disorders, Parents, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

In the US, newborn screening (NBS) is a unique health program that supports health equity and screens virtually every baby after birth, and has brought timely treatments to babies since the 1960's. With the decreasing cost of sequencing and the improving methods to interpret genetic data, there is an opportunity to add DNA sequencing as a screening method to facilitate the identification of babies with treatable conditions that cannot be identified in any other scalable way, including highly penetrant genetic neurodevelopmental disorders (NDD). However, the lack of effective dietary or drug-based treatments has made it nearly impossible to consider NDDs in the current NBS framework, yet it is anticipated that any treatment will be maximally effective if started early. Hence there is a critical need for large scale pilot studies to assess if and how NDDs can be effectively screened at birth, if parents desire that information, and what impact early diagnosis may have. Here we attempt to provide an overview of the recent advances in NDD treatments, explore the possible framework of setting up a pilot study to genetically screen for NDDs, highlight key technical, practical, and ethical considerations and challenges, and examine the policy and health system implications.

Published
2022

21. Investigation of the Relationship between Cognitive Flexibility Levels and Personal Features of University Students

Author

Tüfekçibasi, Seda and Sahin, Mustafa

Abstract

The purpose of this study was to examine the relationship between cognitive flexibility levels and personality traits of university students and whether these variables differ according to gender, education department, cigarette and alcohol use. The research was carried out with 151 students studying in the English language education, physical education and sports, science education, public relations and advertising departments of Karadeniz Technical University. "Cognitive Flexibility Scale" was used to measure the level of cognitive flexibility, "Eysenck Personality Questionnaire Short Form" to measure personality characteristics and "Personal Information Form" created by the researcher was used for personal information. Independent Sample T-Test, One Way Variance Analysis (ANOVA) and Pearson Correlation Coefficient were used in the analysis of the data. The analyses were carried out in SPSS 22.0 program. The results of the research showed that there was a negative relationship between cognitive flexibility and neuroticism and a positive relationship between cognitive flexibility and extraversion. According to another result only estraversion scores differ by gender. Women's extraversion scores were higher than men's scores. The variables don't differ according to the education department. Cognitive flexibility and psychoticism scores differ between smokers and non-smokers. In addition neuroticism and psychoticism scores differ between individuals who consume alcohol and do not consume alcohol. The findings were discussed based on the literature and suggestions for future research were presented. [Note: the citation on the PDF is incorrect.]

Published
2020

22. The Relationship between Academics' Dark Triad Traits and Their Organizational Commitment in Physical Education and Sport

Author

Sahin, Mustafa Yasar and Ermis, Sermin Agrali

Abstract

The results of the recent studies on "dark triad" have caused this concept to become popular among the educational sciences. As the importance of these personality traits comes from the possibility of having an impact on students' learning. Many researchers believe that teachers 'personality traits may affect students' learning processes in the future. So the main aim of this research is to examine the relationship between the dark triad traits of the academics and the organizational commitment dimensions. In the study conducted in the relational survey model, the Dark Triad Traits Scale developed by Paulhus & Williams (2002) and the Organizational Commitment Scale developed by Allen & Meyer (1990) were used as data collection tools. The sample of the research consists of 372 academics determined by random method. In the analysis of the data obtained from the scales, Pearson correlation coefficient was calculated to determine the level of relationship. As a result of the research, while a very low inverse relationship was determined between the emotional commitment of academics and personality traits of Machiavellianism and psychopathy, a moderate direct relationship was found between continuance commitment and the personality traits of Machiavellianism and psychopathy.

Published
2020

27. Rigor and reproducibility in human brain organoid research: Where we are and where we need to go

Author

Anderson, Stewart, Anita, Bhattacharyya, Buttermore, Elizabeth, Chang, Qiang, French, Deborah, Hashimoto-Torii, Kazue, Kornblum, Harley, Kroll, Kristin, Lachman, Herbert M., Maletic-Savatic, Mirjana, Niciu, Mark, Novitch, Bennett, Padmanabhan, Krishnan, Proschel, Chris, Sahin, Mustafa, Sousa, Andre, Stein, Jason, Wang, Daifeng, Waxman, Elisa, Whye, Dosh, Williams, Aislinn, Zhao, Xinyu, Sandoval, Soraya O., Cappuccio, Gerarda, Kruth, Karina, Osenberg, Sivan, Khalil, Saleh M., Méndez-Albelo, Natasha M., Niciu, Mark J., Bhattacharyya, Anita, Stein, Jason L., Sousa, André M.M., Waxman, Elisa A., Buttermore, Elizabeth D., and Sirois, Carissa L.

Published
2024
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30. International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

Author

de Vries, Petrus J., Heunis, Tosca-Marie, Vanclooster, Stephanie, Chambers, Nola, Bissell, Stacey, Byars, Anna W., Flinn, Jennifer, Gipson, Tanjala T., van Eeghen, Agnies M., Waltereit, Robert, Capal, Jamie K., Cukier, Sebastián, Davis, Peter E., Smith, Catherine, Kingswood, J. Chris, Schoeters, Eva, Srivastava, Shoba, Takei, Megumi, Gardner-Lubbe, Sugnet, Kumm, Aubrey J., Krueger, Darcy A., Sahin, Mustafa, De Waele, Liesbeth, and Jansen, Anna C.

Published
2023
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35. An Investigation of Motor Skills of 8- to 12-Year-Old Children With Autism Spectrum DIsorder Compared to Typically Developing Peers

Author

Karacar, Ebru, Ozer, Dilara, Sahin, Mustafa, and Ozcan, Gulsum Hatipoglu

Subjects
United States. Centers for Disease Control and Prevention -- Investigations, Special education -- Investigations -- Analysis -- Usage, Autism -- Investigations -- Analysis -- Usage, Company legal issue, Education, Health, Social sciences, Sports and fitness
Abstract

The aim of this study was to examine the gross motor skills of 8- to 12-year-old children with autism spectrum disorder (ASD) in comparison with their typically developing (TD) peers. The research group consisted of a total of 95 participants between the ages of 8-12, 45 students diagnosed with ASD and 50 TD students attending Special Education Practice Schools. Bruininks-Oseretsky Motor Competence Test 2 (BOT-2) and Gilliam Autistic Disorder Rating Scale-2 Turkish version (GARS-2 TV) were used as data collection means. In the analysis of the data, Mann Whitney U test was used for two-group comparisons of parameters that don't not show normal distribution. Spearman correlation analysis was used to determine the relationship between variables. As a result of the study, bilateral coordination, balance, agility, agility, strength, upper extremity coordination skills and total gross motor scores of children with ASD were found to be lower than those of TD children (p0.05). Further, no signifcant relation was found between the GARS-2-TV and BOT-2 scores of the children with ASD. The development of gross motor skills is important for children to gain movement competence and interact with their environment and other children. The design and implementation of appropriate intervention programs to support motor skills can only be possible with the identifcation and understanding of existing motor defcits. Keywords: Autism spectrum disorder, motor skills, children, Introduction In the American Psychiatric Associations Diagnostic and Statistical Manual of Mental Disorders (DSM-5), autism spectrum disorder (ASD) is defined as a neurodevelopmental disability whose symptoms emerge at an early [...]

Published
2023

36. The Relationship between School Burnout, Sense of School Belonging and Academic Achievement in Preclinical Medical Students

Author

Aker, Servet and Sahin, Mustafa Kürsat

Abstract

The purpose of the study was to evaluate the relationship between school burnout, sense of school belonging, and academic achievement in medical students. This cross-sectional study was performed with students at the Ondokuz Mayis University Medical Faculty (Samsun, Turkey) between 1 and 31 May 2019. Six hundred one (71.0%) first, second, and third-year students were included in the study. A questionnaire was employed as the data collection method. The questionnaire consisted of two parts. The first part consisted of questions investigating sociodemographic information produced by the authors by scanning the literature. The second part consisted of the School Burnout Inventory and the Psychological Sense of School Membership Scale. The relationship between the sense of school belonging, school burnout, and academic achievement was evaluated using structural equation modeling. The structural equation modeling analysis determined that school burnout played a mediating role in the relationship between the sense of school belonging and academic achievement in preclinical medical students. As the sense of belonging to the school increases in preclinical medical students, academic achievement increases. School burnout in preclinical medical students increases as a sense of school belonging decreases. Academic achievement among preclinical medical students decreases as school burnout levels increase. Increasing the sense of school belonging can be effective in preventing school burnout and increasing academic achievement.

Published
2022
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37. Clinical variants paired with phenotype: A rich resource for brain gene curation

Author

Gropman, A., Smith-Hicks, C.L., Neul, J., Agosto, J.A. Martinez, German, K., Izumi, K., Abbeduto, L., Dawalt, L., Wangler, M., Wasserstein, M., Storch, Eric A., Cohen, J.S., Samaco, R., Molholm, S., Shankar, S., Srivastava, S., Walkley, S., Sveden, A., Dies, K., Gupta, Aditi, Oh, Inez, Hauck, Rachel, Chopra, Maya, Savatt, Juliann M., Bingaman, Taylor I., Good, Molly E., Morgan, Alexis, Cooney, Caitlin, Rossel, Allison M., VanHoute, Bryanna, Cordova, Ineke, Mahida, Sonal, Lanzotti, Virginia, Baldridge, Dustin, Gurnett, Christina A., Piven, Joseph, Hazlett, Heather, Pomeroy, Scott L., Sahin, Mustafa, Payne, Philip R.O., Riggs, Erin Rooney, and Constantino, John N.

Published
2024
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39. Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism

Author

Frazier, Thomas W, Jaini, Ritika, Busch, Robyn M, Wolf, Matthew, Sadler, Tammy, Klaas, Patricia, Hardan, Antonio Y, Martinez-Agosto, Julian A, Sahin, Mustafa, and Eng, Charis

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Intellectual and Developmental Disabilities (IDD), Pediatric, Autism, Mental Health, Brain Disorders, Clinical Research, Behavioral and Social Science, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Alleles, Animals, Autism Spectrum Disorder, Biomarkers, Child, Child, Preschool, Disease Models, Animal, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Germ-Line Mutation, Heterozygote, Humans, Male, Neuropsychological Tests, PTEN Phosphohydrolase, Phenotype, Signal Transduction, Young Adult, Developmental Synaptopathies Consortium, Autism spectrum disorder, Behavior, Cognition, Molecular, PTEN, Protein, Clinical sciences, Biological psychology
Abstract

BackgroundPTEN is a well-established risk gene for autism spectrum disorder (ASD). Yet, little is known about how PTEN mutations and associated molecular processes influence neurobehavioral function in mutation carriers with (PTEN-ASD) and without ASD (PTEN no-ASD). The primary aim of the present study was to examine group differences in peripheral blood-derived PTEN pathway protein levels between PTEN-ASD, PTEN no-ASD, and idiopathic macrocephalic ASD patients (macro-ASD). Secondarily, associations between protein levels and neurobehavioral functions were examined in the full cohort.MethodsPatients were recruited at four tertiary medical centers. Peripheral blood-derived protein levels from canonical PTEN pathways (PI3K/AKT and MAPK/ERK) were analyzed using Western blot analyses blinded to genotype and ASD status. Neurobehavioral measures included standardized assessments of global cognitive ability and multiple neurobehavioral domains. Analysis of variance models examined group differences in demographic, neurobehavioral, and protein measures. Bivariate correlations, structural models, and statistical learning procedures estimated associations between molecular and neurobehavioral variables. To complement patient data, Western blots for downstream proteins were generated to evaluate canonical PTEN pathways in the PTEN-m3m4 mouse model.ResultsParticipants included 61 patients (25 PTEN-ASD, 16 PTEN no-ASD, and 20 macro-ASD). Decreased PTEN and S6 were observed in both PTEN mutation groups. Reductions in MnSOD and increases in P-S6 were observed in ASD groups. Elevated neural P-AKT/AKT and P-S6/S6 from PTEN murine models parallel our patient observations. Patient PTEN and AKT levels were independently associated with global cognitive ability, and p27 expression was associated with frontal sub-cortical functions. As a group, molecular measures added significant predictive value to several neurobehavioral domains over and above PTEN mutation status.LimitationsSample sizes were small, precluding within-group analyses. Protein and neurobehavioral data were limited to a single evaluation. A small number of patients were excluded with invalid protein data, and cognitively impaired patients had missing data on some assessments.ConclusionsSeveral canonical PTEN pathway molecules appear to influence the presence of ASD and modify neurobehavioral function in PTEN mutation patients. Protein assays of the PTEN pathway may be useful for predicting neurobehavioral outcomes in PTEN patients. Future longitudinal analyses are needed to replicate these findings and evaluate within-group relationships between protein and neurobehavioral measures.Trial registrationClinicalTrials.gov Identifier NCT02461446.

Published
2021

40. Harnessing rare variants in neuropsychiatric and neurodevelopment disorders—a Keystone Symposia report

Author

Cable, Jennifer, Purcell, Ryan H, Robinson, Elise, Vorstman, Jacob AS, Chung, Wendy K, Constantino, John N, Sanders, Stephan J, Sahin, Mustafa, Dolmetsch, Ricardo E, Shah, Bina Maniar, Thurm, Audrey, Martin, Christa L, Bearden, Carrie E, and Mulle, Jennifer G

Subjects
Pharmacology and Pharmaceutical Sciences, Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Autism, Pediatric, Mental Health, Neurosciences, Schizophrenia, Behavioral and Social Science, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Mental health, Congresses as Topic, Genetic Variation, Humans, Mental Disorders, Neurodevelopmental Disorders, Penetrance, Research Report, autism, autism heterogeneity, autism spectrum disorder, copy number variant, intellectual disability, neurodevelopmental disorders, neuropsychiatric disorders, polygenic risk score, rare variants, schizophrenia, 3q29 deletion, TSC, 16p11, deletion, 22q11, 16p11.2 deletion, 22q11.2 deletion, General Science & Technology
Abstract

Neurodevelopmental neuropsychiatric disorders, such as autism spectrum disorder and schizophrenia, have strong genetic risk components, but the underlying mechanisms have proven difficult to decipher. Rare, high-risk variants may offer an opportunity to delineate the biological mechanisms responsible more clearly for more common idiopathic diseases. Indeed, different rare variants can cause the same behavioral phenotype, demonstrating genetic heterogeneity, while the same rare variant can cause different behavioral phenotypes, demonstrating variable expressivity. These observations suggest convergent underlying biological and neurological mechanisms; identification of these mechanisms may ultimately reveal new therapeutic targets. At the 2021 Keystone eSymposium "Neuropsychiatric and Neurodevelopmental Disorders: Harnessing Rare Variants" a panel of experts in the field described significant progress in genomic discovery and human phenotyping and raised several consistent issues, including the need for detailed natural history studies of rare disorders, the challenges in cohort recruitment, and the importance of viewing phenotypes as quantitative traits that are impacted by rare variants.

Published
2021

41. An Investigation into the Employment of English Language Teachers in the Private Sector in Turkey

Author

Yaman, Ismail and Sahin, Mustafa

Abstract

English language teaching (ELT) and the training of English language teachers have long been important issues in Turkey. However, the related discussions and studies about ELT and English language teachers have mostly concentrated on the systems and issues in the public education sector. Aiming to fill this gap about the involvement of the private sector, this qualitative study intends to find out details concerning the role of the private sector in terms of the employment of English language teachers. To this end, the document analysis method was adopted and the keyword 'Ingilizce ögretmeni' (English language teacher) was scanned in detail on "kariyer.net", a popular job advertisement website in Turkey. The obtained 173 relevant advertisements were then put into content analysis in terms of variables including city distribution, experience preferences, nationality preferences, graduated programme preferences, certificate preferences, place of employment, working hours, and special features. The findings have been presented in detailed tables and interpreted with reference to the research questions of the study.

Published
2019

44. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Author

Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., and Engle, Elizabeth C.

Published
2024
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47. SuperCell: A Wide-Area Coverage Solution Using High-Gain, High-Order Sectorized Antennas on Tall Towers

Author

Bondalapati, Pratheep, Tiwari, Abhishek, Sahin, Mustafa Emin, Tang, Qi, Saraswat, Srishti, Suryakumar, Vishvas, Yazdan, Ali, Kusuma, Julius, and Dubey, Amit

Subjects
Electrical Engineering and Systems Science - Systems and Control, Electrical Engineering and Systems Science - Signal Processing
Abstract

In this article we introduce a novel solution called SuperCell, which can improve the return on investment (ROI) for rural area network coverage. SuperCell offers two key technical features: it uses tall towers with high-gain antennas for wide coverage and high-order sectorization for high capacity. We show that a solution encompassing a high-elevation platform in excess of 200 meters increases coverage by 5x. Combined with dense frequency reuse by using as many as 36 azimuthal sectors from a single location, our solution can adequately serve the rural coverage and capacity demands. We validate this through propagation analysis, modeling, and experiments. The article gives a design perspective using different classes of antennas: Luneburg lens, active/passive phased array, and spatial multiplexing solutions. For each class, the corresponding analytical model of the resulting signal-to-interference plus noise ratio (SINR) based range and capacity prediction is presented. The spatial multiplexing solution is also validated through field measurements and additional 3D ray-tracing simulation. Finally, in this article we also shed light on two recent SuperCell field trials performed using a Luneburg lens antenna system. The trials took place in rural New Mexico and Mississippi. In the trials, we quantified the coverage and capacity of SuperCell in barren land and in a densely forested location, respectively. In the article, we demonstrate the results obtained in the trials and share the lessons learned regarding green-field and brown-field deployments.

Published
2020

48. Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline 'PTEN' Mutations

Author

Uljarevic, Mirko, Frazier, Thomas W., Rached, Gaëlle, Busch, Robyn M., Klaas, Patricia, Srivastava, Siddharth, Martinez-Agosto, Julian A., Sahin, Mustafa, Eng, Charis, and Hardan, Antonio Y.

Abstract

This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with "PTEN" mutations and individuals with macrocephalic ASD. The sample included 38 individuals with "PTEN" mutation and ASD diagnosis ("PTEN"-ASD; M[subscript age] = 8.93 years, SD[subscript age] = 4.75), 23 with "PTEN" mutation without ASD ("PTEN"-no ASD; M[subscript age] = 8.94 years; SD[subscript age] = 4.85) and 25 with ASD and macrocephaly but with no "PTEN" mutation (Macro-ASD; M[subscript age] = 11.99 years; SD[subscript age] = 5.15). The final model accounted for 45.7% of variance in IS, with Set-Shifting EF subdomain as a unique independent predictor (t = 4.12, p < 0.001). This investigation provides the first preliminary evidence for the EF-anxiety-IS interrelationship in individuals with "PTEN" mutations and with macrocephalic ASD. [This article was written on behalf of the Developmental Synaptopathies Consortium.]

Published
2022
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