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2026 Journal Article A comparative effectiveness study of lorazepam or IVIg versus no treatment for Down syndrome regression disorderSantoro, Jonathan D., Jafarpour, Saba, Rezvan, Panteha Hayati, Khoshnood, Mellad M., Vogel, Benjamin N., Nguyen, Lina, Kazerooni, Lilia, Spinazzi, Noemi A., Anadani, Nidhiben, Fisher, Kristen S., Filipink, Robyn A., Manning, Melanie A., Franklin, Cathy, Quinn, Eileen A. and Rafii, Michael S. (2026). A comparative effectiveness study of lorazepam or IVIg versus no treatment for Down syndrome regression disorder. Neurology and Therapy, 1-22. doi: 10.1007/s40120-026-00906-2 |
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2026 Journal Article The detection of Down syndrome arthritis in clinical practice: a multicenter, international pilot and feasibility study of a Down syndrome‐specific musculoskeletal screening toolJones, Jordan T., Talib, Nasreen, Cramer, Emily, Valentini, Diletta, Baumer, Nicole, Sargado, Sabrina, Oreskovic, Nicolas M., Santoro, Stephanie L., Krell, Kavita, Santoro, Jonathan D., Vellody, Kishore, McCormick, Andrew, Franklin, Catherine, Kishnani, Priya, Hart, Sarah, Spiridigliozzi, Gail, Kitchen, Jacqueline and Skotko, Brian G. (2026). The detection of Down syndrome arthritis in clinical practice: a multicenter, international pilot and feasibility study of a Down syndrome‐specific musculoskeletal screening tool. American Journal of Medical Genetics Part A, 200 (3) e64290, 653-660. doi: 10.1002/ajmg.a.64290 |
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2026 Other Outputs Interim Report: Evaluation of the Primary Care Enhancement Program (Phase 2)Boyle, Fran, Lilly, Kieren J., Kocar, Sebastian, Yousef, Noor, Dean, Julie, Lohan, Aditi, Chatterton, Mary Lou, Lee, Yong Yi, Maturi, Jenny, Brooker, Katie, Franklin, Catherine and Marrington, Shelby (2026). Interim Report: Evaluation of the Primary Care Enhancement Program (Phase 2). Brisbane, QLD, Australia: Institute for Social Science Research. |
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2026 Journal Article Serum and cerebral folate are normal in Down Syndrome Regression DisorderSantoro, Jonathan D., Silverman, Mackenzie, Kazerooni, Lilia, Otey, Samuel T., Lucas, Maeve C., Yousuf, Mariam M., Koshnood, Mellad M., Spinazzi, Noemi A., Quinn, Eileen A., Franklin, Catherine, Liu, Taryn R., Jeste, Shafali S. and Rafii, Michael S. (2026). Serum and cerebral folate are normal in Down Syndrome Regression Disorder. Molecular autism, 17 (1) 9. doi: 10.1186/s13229-026-00703-6 |
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2025 Journal Article Health professional education in autism and intellectual disability: systematic reviewFranklin, Catherine, Green, Sinead, Brooker, Katie, de Greef, Ruby, Meurk, Carla and Heffernan, Edward (2025). Health professional education in autism and intellectual disability: systematic review. BJPsych Open, 11 (6) e238, 1-18. doi: 10.1192/bjo.2025.10842 |
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2025 Journal Article Caregiver perceived barriers to diagnosis and care in Down syndrome regression disorderAlag, Anya, Nishimori, Nicole A., Kazerooni, Lilia, Lucas, Maeve C., Huh, David J., Yousuf, Mariam M., Jafarpour, Saba, Franklin, Cathy, Quinn, Eileen A. and Santoro, Jonathan D. (2025). Caregiver perceived barriers to diagnosis and care in Down syndrome regression disorder. American Journal of Medical Genetics Part A, 200 (2) e64274, e64274-406. doi: 10.1002/ajmg.a.64274 |
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2025 Conference Publication Panel discussion: Places and spacesHarpur, Paul, Faragher, Rhonda, Roger, Michelle, Ellam, Kathy, Franklin, Cathy, Povey, Jenny, Thorpe, Karen and Turpin, Merrill (2025). Panel discussion: Places and spaces. UQ’s Disability Research Workshop, Brisbane, QLD, Australia, 17 July 2025. |
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2025 Conference Publication Experiences in accessing electroconvulsive therapy for individuals with intellectual and developmental disabilities: a case seriesJohnston, M., Mcauliffe, J. and Franklin, C. (2025). Experiences in accessing electroconvulsive therapy for individuals with intellectual and developmental disabilities: a case series. RANZCP 2025 Congress, Gold Coast, QLD Australia, 4-8 May 2025. London, United Kingdom: Sage Publications. |
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2025 Conference Publication Nuances of neurodevelopmental psychiatry in adolescents and young adultsJohnston, M., Choi, Y. K., McAullife, J. and Franklin, C. (2025). Nuances of neurodevelopmental psychiatry in adolescents and young adults. RANZCP 2025 Congress, Gold Coast, QLD Australia, 4-8 May 2025. London, United Kingdom: Sage Publications. doi: 10.1177/00048674251327789 |
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2025 Conference Publication The Queensland intellectual and developmental disability mental health network: expanding collaborative practice in QueenslandFranklin, C., Johnston, M., Brooker, K., Jenkins, K., Livingstone, A. and Shatananda, S. (2025). The Queensland intellectual and developmental disability mental health network: expanding collaborative practice in Queensland. RANZCP 2025 Congress, Gold Coast, QLD Australia, 4-8 May 2025. London, United Kingdom: Sage Publications. doi: 10.1177/00048674251327789 |
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2025 Conference Publication Superiority of Immunotherapy to Benzodiazepines and No Treatment in Down Syndrome Regression Disorder (P8-6.007)Santoro, Jonathan, Jafarpour, Saba, Rezvan, Panteha Hayati, Khoshnood, Mellad, Boyd, Natalie, Vogel, Benjamin, Nguyen, Lina, Kazerooni, Lilia, Spinazzi, Noemi, Anadani, Nidhiben, Fisher, Kristen, Filipink, Robyn, Manning, Melanie, Franklin, Cathy, Quinn, Eileen and Rafii, Michael (2025). Superiority of Immunotherapy to Benzodiazepines and No Treatment in Down Syndrome Regression Disorder (P8-6.007). American Academy of Neurology Annual Meeting 2025, San Diego, CA United States, 5-9 April 2025. Philadelphia, PA United States: Wolters Kluwer. doi: 10.1212/wnl.0000000000208699 |
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2024 Conference Publication Experiences of people with intellectual disability and autistic people going to hospitalBrooker, K., Beck, C., Vinayagam, R. and Franklin, C. (2024). Experiences of people with intellectual disability and autistic people going to hospital. Re‐imagining Connections, The 17th IASSIDD World Congress, Chicago, IL United States, 5 - 8 August 2024. Chichester, West Sussex United Kingdom: Wiley-Blackwell. doi: 10.1111/jir.13166 |
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2024 Conference Publication Experiences of hospital staff working with people intellectual disability and autistic peopleBrooker, K., Beck, C., Vinayagam, R. and Franklin, C. (2024). Experiences of hospital staff working with people intellectual disability and autistic people. Re‐imagining Connections, The 17th IASSIDD World Congress, Chicago, IL United States, 5 - 8 August 2024. Chichester, West Sussex United Kingdom: Wiley-Blackwell. doi: 10.1111/jir.13166 |
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2024 Conference Publication Is workplace education an effective intervention to upskill mainstream healthcare professionals to work more effectively with people with intellectual disability and those on the autism spectrum? A systematic reviewFranklin, C., Brooker, K., Green, S., Meurk, C. and Heffernan, E. (2024). Is workplace education an effective intervention to upskill mainstream healthcare professionals to work more effectively with people with intellectual disability and those on the autism spectrum? A systematic review. Re‐imagining Connections, The 17th IASSIDD World Congress, Chicago, IL, United States, 5 - 8 August 2024. Chichester, West Sussex, United Kingdom: Wiley-Blackwell Publishing. doi: 10.1111/jir.13166 |
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2024 Conference Publication Evaluation of the EASY Health (enhancing access to services for your health) project online education for mainstream healthcare professionalsFranklin, C., Brooker, K., Beck, C., Vinayagam, R., Meurk, C. and Heffernan, E. (2024). Evaluation of the EASY Health (enhancing access to services for your health) project online education for mainstream healthcare professionals. Re‐imagining Connections, The 17th IASSIDD World Congress, Chicago, IL United States, 5 - 8 August 2024. Chichester, West Sussex United Kingdom: Wiley-Blackwell. doi: 10.1111/jir.13166 |
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2024 Conference Publication Development of the easy health (enhancing access to services for your health) online education for mainstream healthcare professionalsFranklin, C., Beck, C., Vinayagam, R. and Brooker, K. (2024). Development of the easy health (enhancing access to services for your health) online education for mainstream healthcare professionals. Re‐imagining Connections, The 17th IASSIDD World Congress, Chicago, IL United States, 5 - 8 August 2024. Chichester, West Sussex United Kingdom: Wiley-Blackwell. doi: 10.1111/jir.13166 |
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2024 Conference Publication Disability support workers' perspectives on healthcare for people with intellectual disability and autistic peopleBrooker, K., Beck, C., Vinayagam, R., Giesberts, A. and Franklin, C. (2024). Disability support workers' perspectives on healthcare for people with intellectual disability and autistic people. Re‐imagining Connections, The 17th IASSIDD World Congress, Chicago, IL United States, 5 - 8 August 2024. Chichester, West Sussex United Kingdom: Wiley-Blackwell. doi: 10.1111/jir.13166 |
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2024 Conference Publication Creating a scale to measure intellectual disability and autism knowledge of health professionals: development and psychometric propertiesBrooker, K., Beck, C., Green, S., Vinayagam, R. and Franklin, C. (2024). Creating a scale to measure intellectual disability and autism knowledge of health professionals: development and psychometric properties. Re‐imagining Connections, The 17th IASSIDD World Congress, Chicago, IL, United States, 5 - 8 August 2024. Chichester, West Sussex, United Kingdom: Wiley-Blackwell Publishing. doi: 10.1111/jir.13166 |
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2024 Journal Article De novo variants in immune regulatory genes in Down syndrome regression disorderJafarpour, Saba, Banerjee, Abhik K., Khoshnood, Mellad M., Vogel, Benjamin N., Boyd, Natalie K., Nguyen, Lina, Partridge, Rebecca, Santoro, Stephanie L., Gombolay, Grace Y., Fisher, Kristen S., de Asua, Diego Real, del Ortega, Maria Carmen, Franklin, Cathy, Rafii, Michael S. and Santoro, Jonathan D. (2024). De novo variants in immune regulatory genes in Down syndrome regression disorder. Journal of Neurology, 271 (8), 5567-5576. doi: 10.1007/s00415-024-12521-y |
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2024 Conference Publication Catatonia in autism and intellectual disabilityFranklin, C. (2024). Catatonia in autism and intellectual disability. RANZCP 2024 Congress, Canberra, ACT, Australia, 19 - 23 May 2024. London, United Kingdom: Sage Publications. doi: 10.1177/00048674241241938 |