Exploring the health, education and social support needs of individuals diagnosed with SATB2 Associated Syndrome and their families living in Australia
Background: SATB2 Associated Syndrome is a rare genetic neurodevelopmental condition affecting multiple developmental areas including cognition, speech, behaviour and dentition. Currently, a lack of lived experience research exists involving Australian families and individuals diagnosed with SATB2 A...
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| Language: | English |
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Elsevier
2025-01-01
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| Series: | Rare |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950008725000389 |
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| author | Maryanne Abouharb Dalal Dawood Baumgartner Sarah Wilkes-Gillan Dave Parsons Lauren Parsons Iva Strnadová Elizabeth Emma Palmer Ryan Chen Natalie Munro |
| author_facet | Maryanne Abouharb Dalal Dawood Baumgartner Sarah Wilkes-Gillan Dave Parsons Lauren Parsons Iva Strnadová Elizabeth Emma Palmer Ryan Chen Natalie Munro |
| author_sort | Maryanne Abouharb |
| collection | DOAJ |
| description | Background: SATB2 Associated Syndrome is a rare genetic neurodevelopmental condition affecting multiple developmental areas including cognition, speech, behaviour and dentition. Currently, a lack of lived experience research exists involving Australian families and individuals diagnosed with SATB2 Associated Syndrome. Aim: The study aimed to enhance understanding of support needs and challenges and access to and experience with health, education, family and community-based support services for individuals diagnosed with SATB2 Associated Syndrome and their families. Method: The study utilised a co-design approach with SATB2 Connect, a not-for-profit organisation supporting Australian families and individuals diagnosed with SATB2 Associated Syndrome. An exploratory cross-sectional online survey employed purposive sampling, targeting individuals diagnosed with SATB2 Associated Syndrome and their families. The analysis encompassed descriptive statistics and content analysis. Result: Out of 32 eligible/invited families, 14 responded representing rural and metropolitan areas across five states/territories. Respondents described challenges faced by individuals diagnosed with SATB2 Associated Syndrome, including communication (100 %), reasoning (100 %), dental care (93 %) and behaviour (86 %). Barriers included limited access to information, therapy and education services. Key therapy obstacles encompassed availability (64 %), multidisciplinary services (57 %) and cost (43 %). Educational barriers included lack of multidisciplinary services (60 %) and educators’ unfamiliarity (40 %) with SATB2 Associated Syndrome. Qualitative analysis supplemented quantitative results, revealing diverse experiences and social support needs. Conclusion: In this first Australian study exploring the health, education and social support needs of individuals diagnosed with SATB2 Associated Syndrome and their families, participants reported accessing health, therapy, education and social supports. Unmet needs were reported related to receiving information about therapy and finding specialist practitioners and support workers with more assistance needed in overcoming therapy and education barriers as well as social support. These findings will drive advocacy, raise syndrome awareness and guide research priorities, potentially enhancing intervention, health and education support services. |
| format | Article |
| id | doaj-art-905adc928aea433c95dcc03f1d3902e7 |
| institution | DOAJ |
| issn | 2950-0087 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Rare |
| spelling | doaj-art-905adc928aea433c95dcc03f1d3902e72025-08-20T03:07:51ZengElsevierRare2950-00872025-01-01310009410.1016/j.rare.2025.100094Exploring the health, education and social support needs of individuals diagnosed with SATB2 Associated Syndrome and their families living in AustraliaMaryanne Abouharb0Dalal Dawood Baumgartner1Sarah Wilkes-Gillan2Dave Parsons3Lauren Parsons4Iva Strnadová5Elizabeth Emma Palmer6Ryan Chen7Natalie Munro8Faculty of Medicine and Health, The University of Sydney, Susan Wakil Health Building, D18 Western Avenue, Camperdown, NSW 2006, AustraliaSATB-2 Connect, Level 6, 384 Victoria Street, Darlinghurst, NSW 2010, AustraliaFaculty of Medicine and Health, The University of Sydney, Susan Wakil Health Building, D18 Western Avenue, Camperdown, NSW 2006, AustraliaSchool of Health Sciences, The University of Notre Dame, Building ND26, High St., Fremantle, WA 6160, AustraliaCurtin School of Allied Health, Curtin University, Kent St, Bentley, WA 6102, United StatesSchool of Education, Faculty of Arts, Design and Architecture and Disability Innovation Institute, UNSW Sydney, Morven Brown G23, Kensington, NSW 2065, AustraliaDiscipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, Sydney, NSW, Australia; Sydney Children’s Hospitals Network, NSW Health, NSW, AustraliaFaculty of Medicine and Health, The University of Sydney, Susan Wakil Health Building, D18 Western Avenue, Camperdown, NSW 2006, AustraliaFaculty of Medicine and Health, The University of Sydney, Susan Wakil Health Building, D18 Western Avenue, Camperdown, NSW 2006, Australia; Faculty of Health, Southern Cross University, Southern Cross Drive, Bilinga, QLD 4225, Australia; Corresponding author at: Faculty of Health, Southern Cross University, Southern Cross Drive, Bilinga, QLD 4225, Australia.Background: SATB2 Associated Syndrome is a rare genetic neurodevelopmental condition affecting multiple developmental areas including cognition, speech, behaviour and dentition. Currently, a lack of lived experience research exists involving Australian families and individuals diagnosed with SATB2 Associated Syndrome. Aim: The study aimed to enhance understanding of support needs and challenges and access to and experience with health, education, family and community-based support services for individuals diagnosed with SATB2 Associated Syndrome and their families. Method: The study utilised a co-design approach with SATB2 Connect, a not-for-profit organisation supporting Australian families and individuals diagnosed with SATB2 Associated Syndrome. An exploratory cross-sectional online survey employed purposive sampling, targeting individuals diagnosed with SATB2 Associated Syndrome and their families. The analysis encompassed descriptive statistics and content analysis. Result: Out of 32 eligible/invited families, 14 responded representing rural and metropolitan areas across five states/territories. Respondents described challenges faced by individuals diagnosed with SATB2 Associated Syndrome, including communication (100 %), reasoning (100 %), dental care (93 %) and behaviour (86 %). Barriers included limited access to information, therapy and education services. Key therapy obstacles encompassed availability (64 %), multidisciplinary services (57 %) and cost (43 %). Educational barriers included lack of multidisciplinary services (60 %) and educators’ unfamiliarity (40 %) with SATB2 Associated Syndrome. Qualitative analysis supplemented quantitative results, revealing diverse experiences and social support needs. Conclusion: In this first Australian study exploring the health, education and social support needs of individuals diagnosed with SATB2 Associated Syndrome and their families, participants reported accessing health, therapy, education and social supports. Unmet needs were reported related to receiving information about therapy and finding specialist practitioners and support workers with more assistance needed in overcoming therapy and education barriers as well as social support. These findings will drive advocacy, raise syndrome awareness and guide research priorities, potentially enhancing intervention, health and education support services.http://www.sciencedirect.com/science/article/pii/S2950008725000389ExperiencesParentsRare genetic conditionsSATB2 Associated SyndromeMultidisciplinary or integrated careCo-design |
| spellingShingle | Maryanne Abouharb Dalal Dawood Baumgartner Sarah Wilkes-Gillan Dave Parsons Lauren Parsons Iva Strnadová Elizabeth Emma Palmer Ryan Chen Natalie Munro Exploring the health, education and social support needs of individuals diagnosed with SATB2 Associated Syndrome and their families living in Australia Rare Experiences Parents Rare genetic conditions SATB2 Associated Syndrome Multidisciplinary or integrated care Co-design |
| title | Exploring the health, education and social support needs of individuals diagnosed with SATB2 Associated Syndrome and their families living in Australia |
| title_full | Exploring the health, education and social support needs of individuals diagnosed with SATB2 Associated Syndrome and their families living in Australia |
| title_fullStr | Exploring the health, education and social support needs of individuals diagnosed with SATB2 Associated Syndrome and their families living in Australia |
| title_full_unstemmed | Exploring the health, education and social support needs of individuals diagnosed with SATB2 Associated Syndrome and their families living in Australia |
| title_short | Exploring the health, education and social support needs of individuals diagnosed with SATB2 Associated Syndrome and their families living in Australia |
| title_sort | exploring the health education and social support needs of individuals diagnosed with satb2 associated syndrome and their families living in australia |
| topic | Experiences Parents Rare genetic conditions SATB2 Associated Syndrome Multidisciplinary or integrated care Co-design |
| url | http://www.sciencedirect.com/science/article/pii/S2950008725000389 |
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