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1. The Acceptability and Usability of Digital Health Interventions for Adults With Depression, Anxiety, and Somatoform Disorders: Qualitative Systematic Review and Meta-Synthesis

Author

Patel, Shireen, Akhtar, Athfah, Malins, Sam, Wright, Nicola, Rowley, Emma, Young, Emma, Sampson, Stephanie, and Morriss, Richard

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270
Abstract

BackgroundThe prevalence of mental health disorders continues to rise, with almost 4% of the world population having an anxiety disorder and almost 3.5% having depression in 2017. Despite the high prevalence, only one-third of people with depression or anxiety receive treatment. Over the last decade, the use of digital health interventions (DHIs) has risen rapidly as a means of accessing mental health care and continues to increase. Although there is evidence supporting the effectiveness of DHIs for the treatment of mental health conditions, little is known about what aspects are valued by users and how they might be improved. ObjectiveThis systematic review aimed to identify, appraise, and synthesize the qualitative literature available on service users’ views and experiences regarding the acceptability and usability of DHIs for depression, anxiety, and somatoform disorders. MethodsA systematic search strategy was developed, and searches were run in 7 electronic databases. Qualitative and mixed methods studies published in English were included. A meta-synthesis was used to interpret and synthesize the findings from the included studies. ResultsA total of 24 studies were included in the meta-synthesis, and 3 key themes emerged with descriptive subthemes. The 3 key themes were initial motivations and approaches to DHIs, personalization of treatment, and the value of receiving personal support in DHIs. The meta-synthesis suggests that participants’ initial beliefs about DHIs can have an important effect on their engagement with these types of interventions. Personal support was valued very highly as a major component of the success of DHIs. The main reason for this was the way it enabled individual personalization of care. ConclusionsFindings from the systematic review have implications for the design of future DHIs to improve uptake, retention, and outcomes in DHIs for depression, anxiety, and somatoform disorders. DHIs need to be personalized to the specific needs of the individual. Future research should explore whether the findings could be generalized to other health conditions.

Published
2020
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2. Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.

Author

Chandrasekaran, Prabha, Han, Yu, Zerbe, Christa, Heller, Theo, DeRavin, Suk, Kreuzberg, Samantha, Marciano, Beatriz, Siu, Yik, Jones, Drew, Abraham, Roshini, Stephens, Michael, Tsou, Amy, Snapper, Scott, Conlan, Sean, Subramanian, Poorani, Quinones, Mariam, Grou, Caroline, Calderon, Virginie, Deming, Clayton, Leiding, Jennifer, Arnold, Danielle, Logan, Brent, Griffith, Linda, Petrovic, Aleksandra, Mousallem, Talal, Kapoor, Neena, Heimall, Jennifer, Barnum, Jessie, Kapadia, Malika, Wright, Nicola, Rayes, Ahmad, Chandra, Sharat, Broglie, Larisa, Chellapandian, Deepak, Deal, Christin, Grunebaum, Eyal, Lim, Stephanie, Mallhi, Kanwaldeep, Marsh, Rebecca, Murguia-Favela, Luis, Parikh, Suhag, Touzot, Fabien, Cowan, Morton, Dvorak, Christopher, Haddad, Elie, Kohn, Donald, Notarangelo, Luigi, Pai, Sung-Yun, Puck, Jennifer, Pulsipher, Michael, Torgerson, Troy, Kang, Elizabeth, Malech, Harry, Segre, Julia, Bryant, Clare, Holland, Steven, and Falcone, Emilia

Subjects
CGD, Chronic granulomatous disease, IBD, NADPH oxidase, dysbiosis, inborn errors of immunity, inflammatory bowel disease, intestinal inflammation, metabolome, microbiome, primary immune deficiency, Humans, Granulomatous Disease, Chronic, Gastrointestinal Microbiome, NADPH Oxidases, Cross-Sectional Studies, Inflammatory Bowel Diseases
Abstract

BACKGROUND: Chronic granulomatous disease (CGD) is caused by defects in any 1 of the 6 subunits forming the nicotinamide adenine dinucleotide phosphate oxidase complex 2 (NOX2), leading to severely reduced or absent phagocyte-derived reactive oxygen species production. Almost 50% of patients with CGD have inflammatory bowel disease (CGD-IBD). While conventional IBD therapies can treat CGD-IBD, their benefits must be weighed against the risk of infection. Understanding the impact of NOX2 defects on the intestinal microbiota may lead to the identification of novel CGD-IBD treatments. OBJECTIVE: We sought to identify microbiome and metabolome signatures that can distinguish individuals with CGD and CGD-IBD. METHODS: We conducted a cross-sectional observational study of 79 patients with CGD, 8 pathogenic variant carriers, and 19 healthy controls followed at the National Institutes of Health Clinical Center. We profiled the intestinal microbiome (amplicon sequencing) and stool metabolome, and validated our findings in a second cohort of 36 patients with CGD recruited through the Primary Immune Deficiency Treatment Consortium. RESULTS: We identified distinct intestinal microbiome and metabolome profiles in patients with CGD compared to healthy individuals. We observed enrichment for Erysipelatoclostridium spp, Sellimonas spp, and Lachnoclostridium spp in CGD stool samples. Despite differences in bacterial alpha and beta diversity between the 2 cohorts, several taxa correlated significantly between both cohorts. We further demonstrated that patients with CGD-IBD have a distinct microbiome and metabolome profile compared to patients without CGD-IBD. CONCLUSION: Intestinal microbiome and metabolome signatures distinguished patients with CGD and CGD-IBD, and identified potential biomarkers and therapeutic targets.

Published
2023

3. Human T cell generation is restored in CD3δ severe combined immunodeficiency through adenine base editing

Author

McAuley, Grace E, Yiu, Gloria, Chang, Patrick C, Newby, Gregory A, Campo-Fernandez, Beatriz, Fitz-Gibbon, Sorel T, Wu, Xiaomeng, Kang, Sung-Hae L, Garibay, Amber, Butler, Jeffrey, Christian, Valentina, Wong, Ryan L, Everette, Kelcee A, Azzun, Anthony, Gelfer, Hila, Seet, Christopher S, Narendran, Aru, Murguia-Favela, Luis, Romero, Zulema, Wright, Nicola, Liu, David R, Crooks, Gay M, and Kohn, Donald B

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Research, Rare Diseases, Genetics, Stem Cell Research, Biotechnology, Stem Cell Research - Nonembryonic - Human, Regenerative Medicine, Transplantation, Development of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Humans, Animals, Mice, T-Lymphocytes, Severe Combined Immunodeficiency, Gene Editing, Mice, SCID, CD3 Complex, Receptors, Antigen, T-Cell, CD3D severe combined immune deficiency, CITE-seq, artificial thymic organoid, base editing, hematopoietic stem and progenitor cells, Biological Sciences, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
Abstract

CD3δ SCID is a devastating inborn error of immunity caused by mutations in CD3D, encoding the invariant CD3δ chain of the CD3/TCR complex necessary for normal thymopoiesis. We demonstrate an adenine base editing (ABE) strategy to restore CD3δ in autologous hematopoietic stem and progenitor cells (HSPCs). Delivery of mRNA encoding a laboratory-evolved ABE and guide RNA into a CD3δ SCID patient's HSPCs resulted in a 71.2% ± 7.85% (n = 3) correction of the pathogenic mutation. Edited HSPCs differentiated in artificial thymic organoids produced mature T cells exhibiting diverse TCR repertoires and TCR-dependent functions. Edited human HSPCs transplanted into immunodeficient mice showed 88% reversion of the CD3D defect in human CD34+ cells isolated from mouse bone marrow after 16 weeks, indicating correction of long-term repopulating HSCs. These findings demonstrate the preclinical efficacy of ABE in HSPCs for the treatment of CD3δ SCID, providing a foundation for the development of a one-time treatment for CD3δ SCID patients.

Published
2023

4. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.

Author

Pai, Sung-Yun, Griffith, Linda, Cuvelier, Geoffrey, Eissa, Hesham, Shah, Ami, OReilly, Richard, Pulsipher, Michael, Wright, Nicola, Abraham, Roshini, Satter, Lisa, Notarangelo, Luigi, Haddad, Elie, Heimall, Jennifer, Dunn, Elizabeth, Buckley, Rebecca, Dvorak, Christopher, Puck, Jennifer, Cowan, Morton, and Kohn, Donald

Subjects
Omenn syndrome, SCID, Severe combined immunodeficiency, leaky/atypical SCID, newborn screening, typical SCID, Humans, Severe Combined Immunodeficiency, Immunologic Deficiency Syndromes, CD4-Positive T-Lymphocytes, Thymus Gland, Receptors, Antigen, T-Cell
Abstract

Severe combined immunodeficiency (SCID) results from defects in the differentiation of hematopoietic stem cells into mature T lymphocytes, with additional lymphoid lineages affected in particular genotypes. In 2014, the Primary Immune Deficiency Treatment Consortium published criteria for diagnosing SCID, which are now revised to incorporate contemporary approaches. Patients with typical SCID must have less than 0.05 × 109 autologous T cells/L on repetitive testing, with either pathogenic variant(s) in a SCID-associated gene, very low/undetectable T-cell receptor excision circles or less than 20% of CD4 T cells expressing naive markers, and/or transplacental maternally engrafted T cells. Patients with less profoundly impaired autologous T-cell differentiation are designated as having leaky/atypical SCID, with 2 or more of these: low T-cell numbers, oligoclonal T cells, low T-cell receptor excision circles, and less than 20% of CD4 T cells expressing naive markers. These patients must also have either pathogenic variant(s) in a SCID-associated gene or reduced T-cell proliferation to certain mitogens. Omenn syndrome requires a generalized erythematous rash, absent transplacentally acquired maternal engraftment, and 2 or more of these: eosinophilia, elevated IgE, lymphadenopathy, hepatosplenomegaly. Thymic stromal defects and other causes of secondary T-cell deficiency are excluded from the definition of SCID. Application of these revised Primary Immune Deficiency Treatment Consortium 2022 Definitions permits precise categorization of patients with T-cell defects but does not imply a preferred treatment strategy.

Published
2023

6. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Author

Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dickson, Patricia, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Ganetzky, Rebecca, Kranz, Peter G., Sondheimer, Neal, Markert, M. Louise, Sadeghpour, Azita, Roehrs, Philip, Arbogast, Thomas, Muraresku, Colleen, Tyndall, Amanda V., Esser, Michael J., Woodward, Kristine E., Ping-Yee Au, Billie, Parboosingh, Jillian S., Lamont, Ryan E., Bernier, Francois P., Wright, Nicola A.M., Benseler, Susa M., Parsons, Simon J., El-Dairi, Mays, Valdez, Purnima, Tennison, Michael, Innes, A. Micheil, and Davis, Erica E.

Published
2023
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7. Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers.

Author

Dorsey, Morna J, Wright, Nicola AM, Chaimowitz, Natalia S, Dávila Saldaña, Blachy J, Miller, Holly, Keller, Michael D, Thakar, Monica S, Shah, Ami J, Abu-Arja, Rolla, Andolina, Jeffrey, Aquino, Victor, Barnum, JL, Bednarski, Jeffrey J, Bhatia, Monica, Bonilla, Francisco A, Butte, Manish J, Bunin, Nancy J, Chandra, Sharat, Chaudhury, Sonali, Chen, Karin, Chong, Hey, Cuvelier, Geoffrey DE, Dalal, Jignesh, DeFelice, Magee L, DeSantes, Kenneth B, Forbes, Lisa R, Gillio, Alfred, Goldman, Fred, Joshi, Avni Y, Kapoor, Neena, Knutsen, Alan P, Kobrynski, Lisa, Lieberman, Jay A, Leiding, Jennifer W, Oshrine, Benjamin, Patel, Kiran P, Prockop, Susan, Quigg, Troy C, Quinones, Ralph, Schultz, Kirk R, Seroogy, Christine, Shyr, David, Siegel, Subhadra, Smith, Angela R, Torgerson, Troy R, Vander Lugt, Mark T, Yu, Lolie C, Cowan, Morton J, Buckley, Rebecca H, Dvorak, Christopher C, Griffith, Linda M, Haddad, Elie, Kohn, Donald B, Logan, Brent, Notarangelo, Luigi D, Pai, Sung-Yun, Puck, Jennifer, Pulsipher, Michael A, and Heimall, Jennifer

Subjects
Humans, Severe Combined Immunodeficiency, Disease Susceptibility, Neonatal Screening, Prognosis, Antibiotic Prophylaxis, Hematopoietic Stem Cell Transplantation, Age of Onset, Infection Control, Infant, Infant, Newborn, Disease Management, Female, Male, Public Health Surveillance, Time-to-Treatment, Surveys and Questionnaires, Clinical Decision-Making, Infections, hematopoietic stem cell transplant, newborn screening, primary immunodeficiency, prophylaxis, severe combined immunodeficiency, Stem Cell Research, Perinatal Period - Conditions Originating in Perinatal Period, Pediatric, Prevention, Regenerative Medicine, Transplantation, Infant Mortality, Health Services, Clinical Research, Infection, Immunology
Abstract

PurposeThe Primary Immune Deficiency Treatment Consortium (PIDTC) enrolled children with severe combined immunodeficiency (SCID) in a prospective natural history study of hematopoietic stem cell transplant (HSCT) outcomes over the last decade. Despite newborn screening (NBS) for SCID, infections occurred prior to HSCT. This study's objectives were to define the types and timing of infection prior to HSCT in patients diagnosed via NBS or by family history (FH) and to understand the breadth of strategies employed at PIDTC centers for infection prevention.MethodsWe analyzed retrospective data on infections and pre-transplant management in patients with SCID diagnosed by NBS and/or FH and treated with HSCT between 2010 and 2014. PIDTC centers were surveyed in 2018 to understand their practices and protocols for pre-HSCT management.ResultsInfections were more common in patients diagnosed via NBS (55%) versus those diagnosed via FH (19%) (p = 0.012). Outpatient versus inpatient management did not impact infections (47% vs 35%, respectively; p = 0.423). There was no consensus among PIDTC survey respondents as to the best setting (inpatient vs outpatient) for pre-HSCT management. While isolation practices varied, immunoglobulin replacement and antimicrobial prophylaxis were more uniformly implemented.ConclusionInfants with SCID diagnosed due to FH had lower rates of infection and proceeded to HSCT more quickly than did those diagnosed via NBS. Pre-HSCT management practices were highly variable between centers, although uses of prophylaxis and immunoglobulin support were more consistent. This study demonstrates a critical need for development of evidence-based guidelines for the pre-HSCT management of infants with SCID following an abnormal NBS.Trial registrationNCT01186913.

Published
2021

8. Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.

Author

Chan, Alice Y, Leiding, Jennifer W, Liu, Xuerong, Logan, Brent R, Burroughs, Lauri M, Allenspach, Eric J, Skoda-Smith, Suzanne, Uzel, Gulbu, Notarangelo, Luigi D, Slatter, Mary, Gennery, Andrew R, Smith, Angela R, Pai, Sung-Yun, Jordan, Michael B, Marsh, Rebecca A, Cowan, Morton J, Dvorak, Christopher C, Craddock, John A, Prockop, Susan E, Chandrakasan, Shanmuganathan, Kapoor, Neena, Buckley, Rebecca H, Parikh, Suhag, Chellapandian, Deepak, Oshrine, Benjamin R, Bednarski, Jeffrey J, Cooper, Megan A, Shenoy, Shalini, Davila Saldana, Blachy J, Forbes, Lisa R, Martinez, Caridad, Haddad, Elie, Shyr, David C, Chen, Karin, Sullivan, Kathleen E, Heimall, Jennifer, Wright, Nicola, Bhatia, Monica, Cuvelier, Geoffrey DE, Goldman, Frederick D, Meyts, Isabelle, Miller, Holly K, Seidel, Markus G, Vander Lugt, Mark T, Bacchetta, Rosa, Weinacht, Katja G, Andolina, Jeffrey R, Caywood, Emi, Chong, Hey, de la Morena, Maria Teresa, Aquino, Victor M, Shereck, Evan, Walter, Jolan E, Dorsey, Morna J, Seroogy, Christine M, Griffith, Linda M, Kohn, Donald B, Puck, Jennifer M, Pulsipher, Michael A, and Torgerson, Troy R

Subjects
Animals, Humans, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, T-Lymphocytes, Regulatory, Young Adult, Surveys and Questionnaires, Primary Immunodeficiency Diseases, autoimmunity, genetics, hematopoietic cell transplant, immune dysregulation, primary immune deficiencies, Clinical Research, Rare Diseases, Transplantation, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, Inflammatory and immune system, Immunology, Medical Microbiology
Abstract

Primary Immune Regulatory Disorders (PIRD) are an expanding group of diseases caused by gene defects in several different immune pathways, such as regulatory T cell function. Patients with PIRD develop clinical manifestations associated with diminished and exaggerated immune responses. Management of these patients is complicated; oftentimes immunosuppressive therapies are insufficient, and patients may require hematopoietic cell transplant (HCT) for treatment. Analysis of HCT data in PIRD patients have previously focused on a single gene defect. This study surveyed transplanted patients with a phenotypic clinical picture consistent with PIRD treated in 33 Primary Immune Deficiency Treatment Consortium centers and European centers. Our data showed that PIRD patients often had immunodeficient and autoimmune features affecting multiple organ systems. Transplantation resulted in resolution of disease manifestations in more than half of the patients with an overall 5-years survival of 67%. This study, the first to encompass disorders across the PIRD spectrum, highlights the need for further research in PIRD management.

Published
2020

10. Personal and professional experiences of self-care in the clinical psychology profession

Author

Wright, Nicola

Subjects
616.89
Abstract

This thesis aims to explore the personal and professional experiences of self-care in the clinical psychology profession, with a focus on personal therapy. In doing so, it seeks to add to the small literature base that explores the use of self-care by clinical psychologists. Paper one is a review of the current literature that aims to synthesise the factors that contribute to the wellbeing of qualified and trainee clinical psychologists practicing in the United Kingdom. A total of 11 papers were included in the thematic review. Six themes were identified: Social Support, Predisposing Vulnerabilities, Organisational Change, Shame and Stigma, Being a Clinical Psychologist and Enhancing the Self. Overall, findings suggest that mindfulness, accessing personal therapy and seeking positive social support aid psychological wellbeing. Barriers to wellbeing include stigma and shame in disclosing distress, stressful working environments and avoidance behaviours. Positive training course relationships, supportive supervision, active behavioural strategies, and peer support are factors that could reduce these barriers. Paper two is an empirical paper that explores the self-care experiences of a group of qualified clinical psychologists. Interpretative Phenomenological Analysis was used to develop the themes of The Toxic Environment, Identity, Self-Care, and Personal Therapy. The findings highlight the internal and external conflicts that clinical psychologists face when implementing self-care. Findings are discussed in relation to the clinical implications, in particular how to add to future research.

Published
2018

12. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Author

Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K, Akdemir, Zeynep H Coban, Erichsen, Hans Christian, Forbes, Lisa R, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N, Muzny, Donna M, Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K, Noroski, Lenora M, Seeborg, Filiz O, Davis, Carla M, Canter, Debra L, Mace, Emily M, Vece, Timothy J, Allen, Carl E, Abhyankar, Harshal A, Boone, Philip M, Beck, Christine R, Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F, Abrahamsen, Tore G, Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv TN, Kulseth, Mari Ann, Prescott, Trine E, Rustad, Cecilie F, Heimdal, Ketil R, Belmont, John W, Rider, Nicholas L, Chinen, Javier, Cao, Tram N, Smith, Eric A, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J Espinosa, Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M, Franco, Jose L, Vargas, Claudia M Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B, Issekutz, Andrew C, Abbott, Jordan, Caldwell, Jason W, Bayer, Diana K, Chan, Alice Y, Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K, Ehlayel, Mohammad S, Jolles, Stephen, Flatø, Berit, Bertuch, Alison A, Hanson, I Celine, Zhang, Victor W, Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M, Boerwinkle, Eric, Gibbs, Richard A, Shearer, William T, Lyle, Robert, Orange, Jordan S, and Lupski, James R

Subjects
Biomedical and Clinical Sciences, Immunology, Human Genome, Prevention, Clinical Research, Genetic Testing, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Good Health and Well Being, Adolescent, Adult, Aged, Child, Child, Preschool, DNA Copy Number Variations, Female, Genomics, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes, Infant, Male, Middle Aged, Young Adult, Primary immunodeficiency disease, whole-exome sequencing, copy number variants, Allergy
Abstract

BackgroundPrimary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions.ObjectiveWe sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.MethodsPatients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping.ResultsA likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/110) and management was directly altered in nearly a quarter (26/110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays.ConclusionThis high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.

Published
2017

13. Longitudinal associations between early childhood irritability and adolescent depression symptoms in autistic children are mediated by peer relationships but not educational engagement

Author

Carter Leno, Virginia, Wright, Nicola, Pickles, Andrew, Bedford, Rachael, Zaidman-Zait, Anat, Kerns, Connor, Zwaigenbaum, Lonnie, Duku, Eric, Bennett, Teresa, Georgiades, Stelios, Smith, Isabel M, Richards, Annie, Vaillancourt, Tracy, Szatmari, Peter, Elsabbagh, Mayada, Pathways in ASD Study Team, Carter Leno, Virginia, Wright, Nicola, Pickles, Andrew, Bedford, Rachael, Zaidman-Zait, Anat, Kerns, Connor, Zwaigenbaum, Lonnie, Duku, Eric, Bennett, Teresa, Georgiades, Stelios, Smith, Isabel M, Richards, Annie, Vaillancourt, Tracy, Szatmari, Peter, Elsabbagh, Mayada, and Pathways in ASD Study Team

Abstract

In the general population, irritability is associated with later depression. Despite irritability being more prevalent in autistic children, the long-term sequelae are not well explored. We tested whether irritability in early childhood predicted depression symptoms in autistic adolescents, and whether associations could be explained by difficulties in peer relationships and lower educational engagement. Analyses tested the longitudinal associations between early childhood irritability (ages 3–5) and adolescent depression symptoms (age 14) in a prospective inception cohort of autistic children (N = 390), followed from early in development shortly after they received a clinical diagnosis. Mediators were measured in mid-childhood (age 10) by a combination of measures, from which latent factors for peer relationships and educational engagement were estimated. Results showed early childhood irritability was positively associated with adolescent depression symptoms, and this association remained when adjusting for baseline depression. A significant indirect pathway through peer relationships was found, which accounted for around 13% of the association between early childhood irritability and adolescent depression, suggesting peer problems may partially mediate the association between irritability and later depression. No mediation effects were found for education engagement. Results highlight the importance of early screening and intervention for co-occurring irritability and peer problems in young autistic children.

Published
2024

14. The Moderating Role of Maternal Praise and Positivity in the Association Between Callous-Unemotional (CU) Traits and Later Aggression: A Prospective Study in Preschool Children in Colombia

Author

Obando, Diana, Hill, Jonathan, Wright, Nicola, Obando, Diana, Hill, Jonathan, and Wright, Nicola

Abstract

Our previous findings in the UK and Colombia show that CU traits predict later aggression specifically among children who are already aggressive. We hypothesised that this effect would be reduced in the presence of maternal praise and positivity. In a sample of 220 mothers and children from Colombia, mother–child interactions were coded for maternal praise and positivity, and mothers reported on children’s CU traits at age 3.5 and aggression at ages 3.5 and 5 years. The results show three-way interactions between CU traits, child aggression and observed parenting at age 3.5 years in the prediction of later child aggression, and two-way interactions indicating a protective effect of positive parenting in the high aggressive children. Based on our finding, it is plausible that positive parenting may modify the effect of CU traits in the highly vulnerable group of children who are already aggressive in early childhood.

Published
2024

15. Alignment of Canada's COVID-19 policy response with barriers and facilitators for coping reported by caregivers of youth with developmental delays, disorders, and disabilities

Author

Katalifos, Anna, Elsabbagh, Mayada, Yusuf, Afiqah, Yamaguchi, Sakiko, Scorah, Julie, Wright, Nicola, Steiman, Mandy, Shih, Andy, Shikako, Keiko, Katalifos, Anna, Elsabbagh, Mayada, Yusuf, Afiqah, Yamaguchi, Sakiko, Scorah, Julie, Wright, Nicola, Steiman, Mandy, Shih, Andy, and Shikako, Keiko

Abstract

Introduction: The UNICEF-WHO Global Report on Developmental Delays, Disorders, and Disabilities is an ongoing initiative aimed at increasing awareness, compiling data, providing guidance on strengthening health systems, and engaging country-level partners. Data from its caregiver survey assessing impacts of the COVID-19 pandemic showed that half of youths with developmental delays and disabilities (DDDs) and their caregivers struggled to cope, with a significant portion reporting a lack of supports and difficulty managing the worsening of the child's symptoms in isolation. Governments created service strategies supporting vulnerable groups. Little is known about the alignment between COVID-19 policies for persons with disabilities and their lived experiences. Contextualizing caregivers’ experiences can promote the development of tailored public supports for these families following a public health crisis. Methods: Online survey data were collected from June-July 2020, leading to a convenience sample of caregivers of youth with DDDs across Canada. Respondents answered two open-ended questions regarding challenges and coping strategies during the pandemic. We conducted a thematic analysis of responses using inductive coding on NVivo software. Overarching codes derived from the dataset were contextualized using an analysis of provincial policies published during the pandemic. Parallels with these policies supported the exploration of families’ and youths’ experiences during the same period. Results: Five hundred and seventy-six (N = 576) participants answered open-ended questions. Barriers to coping included family mental health issues, concerns about the youths’ regression, challenges in online schooling, limited play spaces, and managing physical health during quarantine. Environmental barriers encompassed deteriorating family finances, loss of public services, and a lack of accessible information and supports. In contrast, caregivers reported coping facilitators, su

Published
2024

16. Role of cancer stem cells in breast and prostate cancer

Author

Wright, Nicola and Cross, Neil

Subjects
616.99
Abstract

Cancer stem cells (CSC) are thought to be responsible for the initiation, propagation and tumour re-occurrence. CSC have been identified in most solid and haematological cancers and account for ~1% of the total cell population. Culturing cancer cell lines in monolayers enriches for the most dominant subpopulation which in most cases does not represent the slow dividing CSC population. We investigated the expression of CSC markers in 2D vs. 3D cell culture with the aim of identifying CSC-like cells via a nanog-reporter cell line and enable the subsequent targeting of these cells with CSC-targeting agents. SUM159 and MCF7 cell lines cultured in 3D cell culture significantly enriched for the CD44+/CD24- breast cancer stem cell phenotype when compared against 2D cell culture (p < 0.05 and 0.001 respectively) and also enriched for expression of CD181 (p < 0.05 and 0.001 respectively). However, this method did not enrich for the prostate CSC with the CD44+/CD133+ phenotype in PC3, DU145 and LNCAP cells. Using reporter cell lines to further identify the CSC population in SUM159 cell line that express GFP in response to Nanog (NRE-GFP), found that these cells were GFP+ve in the absence of Nanog protein. As these reporters were selected based on GFP that was supposedly Nanog driven other mechanistic studies were examined to determine how GFP is expressed in the NRE-GFP and control cell line. It was found that GFP could be induced in apoptosis, CSC enriching medium, hypoxia and by inhibiting the proteasome in the absence of Nanog protein. It was concluded that reporter cell lines that respond to a response element may not identify the CSC population as other factors can induce GFP expression. Compounds related to Withaferin A have been proposed to specifically target CSCs. Prostate and breast cancer cell lines cultured in 2D and 3D were treated with a novel withanolide derivative (LG-02) and Withanilode E to determine if these compounds were more effective at inducing cell cycle arrest and apoptosis using flow cytometry and microscopy. It was determined that LG-02 and WE primary mode of action is cell cycle inhibition and both compounds are more potent cell cycle inhibitors than Withaferin A. G1 phase accumulation was observed in the SUM159, PC3 and LNCAP cell lines and G2/M phase accumulation in the DU145 cell line. Cell cycle arrest was inconclusive in the MCF7 cell line. An apoptotic morphology was only significantly induced at higher concentrations in MCF7, PC3, DU145 and LNCAP. Withanolide derivatives also target the androgen response pathway, demonstrated by a decrease in PSA and androgen receptor in prostate cancer cell lines. LG-02 slowed growth of breast cancer cell lines cultured in 3D and inhibited spheroid formation of prostate cancer cell lines, however the androgen-dependent cell line LNCAP was consistently able to form 3D colonies, most likely via pAkt activation. We conclude that 3D cell culture does enrich for the CSC population in breast cancer cell lines but using a reporter cell line expressing GFP under the control of a NRE is not a suitable model for identifying the CSC population for subsequent drug treatment. In addition, Withanolide derivatives have potential anti-tumour activity and may represent a novel class of anti-androgenic agents.

Published
2016

21. A Protocol for a Rapid Realist Review of Literature Examining Co-Production in Youth Mental Health Services.

Author

Jones, Verity Rose, Waring, Justin, Wright, Nicola, and Fenton, Sarah-Jane Hannah

Subjects
MENTAL health, MEDICAL care, STAKEHOLDERS, YOUTH development, YOUTH services
Abstract

An overview of internationally published literature on what works for co-production in youth mental health services is missing, despite a practice and policy context strongly recommending this approach. The proposed rapid realist review aims to develop a theory about how and why co-production methods in youth mental health services work (or do not work), for whom, in which contexts, and through what mechanisms. Relevant evidence will be synthesised to develop context–mechanism–outcome (CMO) configurations that can inform policy and practice. Stakeholders will be iteratively involved in the development of these theories (CMO configurations) by engaging an expert panel and youth advisory group. The review results will be reported according to the RAMESES guidelines and are intended to be published in an academic journal. Additionally, a plain English summary will be produced with the support of the youth advisory group. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Author

Shashi, Vandana, primary, Schoch, Kelly, additional, Ganetzky, Rebecca, additional, Kranz, Peter G., additional, Sondheimer, Neal, additional, Markert, M. Louise, additional, Cope, Heidi, additional, Sadeghpour, Azita, additional, Roehrs, Philip, additional, Arbogast, Thomas, additional, Muraresku, Colleen, additional, Tyndall, Amanda V., additional, Esser, Michael J., additional, Woodward, Kristine E., additional, Ping-Yee Au, Billie, additional, Parboosingh, Jillian S., additional, Lamont, Ryan E., additional, Bernier, Francois P., additional, Wright, Nicola A.M., additional, Benseler, Susa M., additional, Parsons, Simon J., additional, El-Dairi, Mays, additional, Smith, Edward C., additional, Valdez, Purnima, additional, Tennison, Michael, additional, Innes, A. Micheil, additional, Davis, Erica E., additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Boyd, Brenna, additional, Briere, Lauren C., additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Peter Chang, Ta Chen, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Chinn, Ivan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Corona, Rosario, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dickson, Patricia, additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Falk, Marni, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Gahl, William A., additional, Glass, Ian, additional, Gochuico, Bernadette, additional, Goddard, Page C., additional, Godfrey, Rena A., additional, Golden-Grant, Katie, additional, Grajewski, Alana, additional, Hadley, Don, additional, Hahn, Sihoun, additional, Halley, Meghan C., additional, Hamid, Rizwan, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Hutchison, Sarah, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jamal, Fariha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Karaviti, Lefkothea, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Korrick, Susan, additional, Kozuira, Mary, additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Maghiro, Audrey Stephannie, additional, Mahoney, Rachel, additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Maravilla, Kenneth, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Might, Matthew, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Mulvihill, John, additional, Nakano-Okuno, Mariko, additional, Nelson, Stanley F., additional, Newman, John H., additional, Nicholas, Sarah K., additional, Nickerson, Deborah, additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Pusey Swerdzewski, Barbara N., additional, Quinlan, Aaron, additional, Rao, Deepak A., additional, Raper, Anna, additional, Raskind, Wendy, additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rosenwasser, Natalie, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Scott, Daryl A., additional, Scott, C. Ron, additional, Seto, Elaine, additional, Shashi, Vandana, additional, Shin, Jimann, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Sullivan, Kathleen, additional, Sullivan, Jennifer A., additional, Sun, Angela, additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Queenie K.-G., additional, Tan, Amelia L.M., additional, Tarakad, Arjun, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Ungar, Rachel A., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walker, Melissa, additional, Wallace, Stephanie, additional, Walley, Nicole M., additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Hubshman, Monika Weisz, additional, Wener, Mark, additional, Wenger, Tara, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Worley, Kim, additional, Xiao, Changrui, additional, Yamamoto, Shinya, additional, Yang, John, additional, Zhang, Zhe, additional, and Zuchner, Stephan, additional

Published
2023
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31. Cross-cultural differences in early caregiving: levels of mind-mindedness and instruction in UK and India

Author

Coetzee, Bronwyne, Bozicevic, Laura, Hill, Jonathan, Chandra, Prabha S, Omirou, Agni, Holla, Chaithra, Wright, Nicola, Sharp, Helen, Coetzee, Bronwyne, Bozicevic, Laura, Hill, Jonathan, Chandra, Prabha S, Omirou, Agni, Holla, Chaithra, Wright, Nicola, and Sharp, Helen

Abstract

Introduction: Most studies on parenting and its role in child development are conducted in Western countries, but it cannot be assumed that characteristics of parental practices are similar in non-Western settings. Research characterizing cultural differences in parenting is required to inform the focus of studies designed to test differential outcomes from such practices in children over time and across cultures. The present cross-cultural study examined differences in maternal speech during mother–child interactions, and, specifically, in the use of mind-mindedness, instruction and control, and the expression of warmth (i.e., positive comments). Methods: We observed 100 dyads (50 from the UK and 50 from India) during mother-infant play interactions at 7 months. Maternal speech was transcribed and translated prior to independent coding, and this was coded using established measures together with a newly developed measure of “Instructions”. Results: Substantially large differences between UK and Indian mothers were observed. Compared with UK mothers, Indian mothers made fewer mind-minded comments about their infants, and they issued more instructions and made more controlling and positive comments. Findings from this study might reflect cultural differences in how parental style might be expressed according to cultural priorities and values. Conclusions: The implications of these very large differences in parenting across cultures for child development remain to be investigated and are discussed in the present paper.

Published
2023

37. Systematic versus opportunistic risk assessment for the primary prevention of cardiovascular disease: Cochrane systematic review protocol

Author

Dyakova, Mariana, Drew, Christian, Wright, Nicola, Clarke, Aileen, and Rees, Karen

Subjects
Health (social science), Cochrane systematic review protocol, cardiovascular disease, lcsh:Public aspects of medicine, Health Policy, Public Health, Environmental and Occupational Health, risk assessment, lcsh:RA1-1270
Abstract

A large number of people, considered at increased risk of vascular disease, remain unidentified, untreated and not reached by lifestyle advice or intervention, despite public health and clinical efforts. This has prompted the initiation of national screening/systematic risk assessment programmes for vascular disease in healthy populations. These exist in addition to the more ad hoc opportunistic risk assessment initiatives undertaken worldwide. There is currently not enough indisputable evidence either showing clear clinical or economic benefits of systematic screening-like programmes over opportunistic risk assessment of cardiovascular disease (CVD) in primary care. We present the rationale and methodology of a Cochrane systematic review, assessing the effectiveness, costs and adverse effects of systematic risk assessment compared to opportunistic risk assessment for the primary prevention of CVD., South Eastern European Journal of Public Health (SEEJPH), Volume I, 2014

Published
2023

38. Callous unemotional traits, low cortisol reactivity and physical aggression in children: findings from the Wirral Child Health and Development Study

Author

Wright, Nicola, Hill, Jonathan, Pickles, Andrew, and Sharp, Helen

Subjects
Aggression, Callous-unemotional traits, HPA axis, Cortisol reactivity, Childhood
Abstract

Callous-unemotional (CU) traits are thought to confer risk for aggression via reduced amygdala responsivity to distress cues in others. Low cortisol reactivity is thought to confer risk for aggression via reduced arousal and this effect may be confined to boys. We tested the hypothesis that the association between childhood CU traits and aggression would be greatest in the absence of the inhibitory effects of cortisol reactivity, and that this effect would be sex dependent. Participants were 283 members of a stratified subsample within an epidemiological longitudinal cohort (WCHADS). Cortisol reactivity to a social stressor was assessed at 5 years. CU traits were reported by mothers at 5 years, and physical aggression by mothers and teachers at age 7. Results showed that CU traits were associated with elevated aggression at 7 years controlling for earlier aggression. There was no main effect of cortisol reactivity on regression. The association between CU traits and aggression was moderated by cortisol reactivity (p = .011) with a strong association between CU traits and aggression in the presence of low reactivity, and a small and non-significant association in the presence of high reactivity. This association was further moderated by child sex (p = .041) with the joint effect of high CU traits and low cortisol reactivity seen only in boys (p = .016). We report first evidence that a combined deficit in inhibitory processes associated with CU traits and low cortisol reactivity increases risk for childhood aggression, in a sex dependent manner.

Published
2022
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40. The unequal impact of Covid?19 on the lives and rights of the children of modern slavery survivors, children in exploitation and children at risk of entering exploitation

Author

Brotherton, Vicky, Gardner, Alison, Wright, Nicola, Dang, Minh, Wyman, Emily, Lucas, Benjamin, Trodd, Zoe, Browne, Hannah, Esiovwa, Nancy, Bravo?Balsa, Liana, Gul, Mohsen, and Such, Elizabeth

Subjects
Health (social science), Beacon - Rights Lab, Life-span and Life-course Studies, Education
Abstract

This article discusses the unequal impact of Covid-19 on the lives of the children of survivors of modern slavery, child victims of exploitation and children at risk of exploitation in the UK. It draws on research that has analysed the risks and impacts of Covid-19 on victims and survivors of modern slavery. It explores how pandemic responses may have hindered these children's rights to education, food, safety, development and participation and representation in legal processes. It suggests that the pandemic should be used as an impetus to address inequalities that existed pre-Covid-19 and those that have been exacerbated by it.

Published
2022

41. Exposure to family stressful life events in autistic children: longitudinal associations with mental health and the moderating role of cognitive flexibility

Author

Carter Leno, Virginia, Wright, Nicola, Pickles, Andrew, Bedford, Rachael, Zaidman-Zait, Anat, Kerns, Connor, Mirenda, Pat, Zwaigenbaum, Lonnie, Duku, Eric, Bennett, Teresa, Georgiades, Stelios, Smith, Isabel, Vaillancourt, Tracy, Szatmari, Peter, Elsabbagh, Mayada, Carter Leno, Virginia, Wright, Nicola, Pickles, Andrew, Bedford, Rachael, Zaidman-Zait, Anat, Kerns, Connor, Mirenda, Pat, Zwaigenbaum, Lonnie, Duku, Eric, Bennett, Teresa, Georgiades, Stelios, Smith, Isabel, Vaillancourt, Tracy, Szatmari, Peter, and Elsabbagh, Mayada

Abstract

Mental health problems are prevalent in autistic youth, but the underpinning mechanisms are not well explored. In neurotypical youth, stressful life events are an established risk factor for mental health problems. This study tested longitudinal bidirectional associations between family-level stressful life events and mental health problems and whether these were moderated by cognitive flexibility, in a cohort of autistic children (N = 247). Family-stressful life events, assessed using the parent-reported Family Inventory of Life Events and Changes, and mental health problems, assessed using the teacher-reported Child Behavior Checklist Internalizing and Externalizing Symptoms subscales, were measured at multiple points between 7 and 11 years. Analyses showed no significant pathways from internalizing or externalizing symptoms to family-stressful life events or from family-stressful life events to internalizing or externalizing symptoms. There was some evidence of moderation by cognitive flexibility; the family-stressful life events to internalizing symptoms pathway was non-significant in the group with typical shifting ability but significant in the group with clinically significant shifting problems. Information about family-level stressful life event exposure and cognitive flexibility may be helpful in identifying autistic youth who may be at higher risk of developing mental health problems. Established risk factors for mental health problems in neurotypical populations are relevant for understanding mental health in autistic youth.

Published
2022

42. The Moderating Role of Maternal Praise and Positivity in the Association Between Callous-Unemotional (CU) Traits and Later Aggression: A Prospective Study in Preschool Children in Colombia

Author

Obando, Diana, Hill, Jonathan, Wright, Nicola, Obando, Diana, Hill, Jonathan, and Wright, Nicola

Abstract

Our previous findings in the UK and Colombia show that CU traits predict later aggression specifically among children who are already aggressive. We hypothesised that this effect would be reduced in the presence of maternal praise and positivity. In a sample of 220 mothers and children from Colombia, mother–child interactions were coded for maternal praise and positivity, and mothers reported on children’s CU traits at age 3.5 and aggression at ages 3.5 and 5 years. The results show three-way interactions between CU traits, child aggression and observed parenting at age 3.5 years in the prediction of later child aggression, and two-way interactions indicating a protective effect of positive parenting in the high aggressive children. Based on our finding, it is plausible that positive parenting may modify the effect of CU traits in the highly vulnerable group of children who are already aggressive in early childhood.

Published
2022

43. Factors associated with resilience among children and youths with disability during the COVID-19 pandemic

Author

Didden, Robert, Yusuf, Afiqah, Wright, Nicola, Steiman, Mandy, Gonzalez, Miriam, Karpur, Arun, Shih, Andy, Shikako, Keiko, Elsabbagh, Mayada, Didden, Robert, Yusuf, Afiqah, Wright, Nicola, Steiman, Mandy, Gonzalez, Miriam, Karpur, Arun, Shih, Andy, Shikako, Keiko, and Elsabbagh, Mayada

Abstract

There is evidence of negative impact of social distancing and confinement measures to manage the COVID-19 pandemic on children, including increased anxiety and depression and behaviour difficulties. Paradoxically, positive impacts like increased support and more self-care activities have also been documented. Little is known about the impact of the COVID-19 pandemic on the children with disability and the potential role of familial, environmental, and biological factors on mitigating this impact. The aims of the study were 1) identifying profiles of functioning across multiple domains during the COVID-19 pandemic and 2) examining the extent to which parenting self-efficacy, support in accessing schooling, and type of diagnosis predict the likelihood of resilience among children with disability, after controlling for household income and single-parent status. An online survey developed from COVID-19 guidance recommendations, was available from June 11- July 21, 2020, and resulted in a convenience sample of caregivers across Canada (n = 883) of children with disability (mean age of 9.4 years old, SDage = 5.7, 58% male). We conducted latent class analysis to examine the number of latent profiles on caregiver-reported changes of 12 functioning domains, as either ‘worsening’, ‘no change’, or ‘improving’. Most participants belonged to ‘stable’ or ‘worsening’ profiles. However, we identified a small subgroup with improvements in child functioning, a pattern indicative of a ‘resilient’ profile. Using a multinomial logistic regression, we found that diagnosis type, parenting self-efficacy and support in accessing schooling were associated with membership in the Resilient or Stable profiles compared to the Worsening profile, after controlling for single-parent status and income. Taken together, our findings identified variability in responses to adversity that is dependent on the child’s diagnosis type, parenting self-efficacy, and support in accessing schooling. By identifyi

Published
2022

44. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Author

Lovric, Svjetlana, Goncalves, Sara, Gee, Heon Yung, Oskouian, Babak, Srinivas, Honnappa, Choi, Won-Il, Shril, Shirlee, Ashraf, Shazia, Tan, Weizhen, Rao, Jia, Airik, Merlin, Schapiro, David, Braun, Daniela A., Sadowski, Carolin E., Widmeier, Eugen, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Girik, Vladimir, Capitani, Guido, Suh, Jung H., Lachaussée, Noëlle, Arrondel, Christelle, Patat, Julie, Gribouval, Olivier, Furlano, Monica, Boyer, Olivia, Schmitt, Alain, Vuiblet, Vincent, Hashmi, Seema, Wilcken, Rainer, Bernier, Francois P., Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan E., Midgley, Julian P., Wright, Nicola, Majewski, Jacek, Zenker, Martin, Schaefer, Franz, Kuss, Navina, Greil, Johann, Giese, Thomas, Schwarz, Klaus, Catheline, Vilain, Schanze, Denny, Franke, Ingolf, Sznajer, Yves, Truant, Anne S., Adams, Brigitte, Désir, Julie, Biemann, Ronald, Pei, York, Ars, Elisabet, Lloberas, Nuria, Madrid, Alvaro, Dharnidharka, Vikas R., Connolly, Anne M., Willing, Marcia C., Cooper, Megan A., Lifton, Richard P., Simons, Matias, Riezman, Howard, Antignac, Corinne, Saba, Julie D., and Hildebrandt, Friedhelm

Published
2017
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45. 125 - Hematopoietic Cell Transplantation in 240 Patients with Chronic Granulomatous Disease: A Pidtc Report

Author

Arnold, Danielle E., Parikh, Suhag, Logan, Brent, Marsh, Rebecca, Griffith, Linda M., Wu, Ruizhe, Mallhi, Kanwaldeep, Chellapandian, Deepak, Si, Stephanie, Grunebaum, Eyal, Broglie, Larisa, Prasad, Vinod K., Heimall, Jennifer, Bunin, Nancy J., Teira, Pierre, Touzot, Fabien, Burroughs, Lauri M., Petrovic, Aleksandra, Bleesing, Jack J., Chandra, Sharat, Kapoor, Neena, Dara, Jasmeen, Dorsey, Morna, Williams, Olatundun, Kapadia, Malika, Bednarski, Jeffrey, Rayes, Ahmad, Chen, Karin, Chong, Hey, Cuvelier, Geoff D.E., Forbes, Lisa R., Martinez, Caridad, Vander Lugt, Mark T., Yu, Lolie C., Chandrakasan, Shanmuganathan, Joshi, Avni, Prockop, Susan E., Davila Saldana, Blachy J., Aquino, Victor, Ebens, Christen L., Madden, Lisa, DeSantes, Kenneth, Milner, Jordan, Rangarajan, Hemalatha G., Shah, Ami J, Gillio, Alfred P., Knutsen, Alan P., Miller, Holly K., Moore, Theodore B., Wright, Nicola, Cowan, Morton J., Dvorak, Christopher C., Haddad, Elie, Kohn, Donald B., Notarangelo, Luigi D., Pai, Sung-Yun, Puck, Jennifer, Pulsipher, Mike A., Torgerson, Troy, Malech, Harry L., Kang, Elizabeth M., and Leiding, Jennifer W.

Published
2022
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50. The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing

Author

Zhou, Janet R., primary, Ridsdale, Ross, additional, MacNeil, Lauren, additional, Lilley, Margaret, additional, Hoang, Stephanie, additional, Christian, Susan, additional, Blumenschein, Pamela, additional, Wolan, Vanessa, additional, Bruce, Aisha, additional, Singh, Gurpreet, additional, Wright, Nicola, additional, Parboosingh, Jillian S., additional, Lamont, Ryan E., additional, and Sosova, Iveta, additional

Published
2021
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