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Contains fulltext : 291110.pdf (Publisher’s version ) (Open Access), BACKGROUND: Adults with mild intellectual disability (MID) experience more mental health disorders than the general population. However, mental healthcare may be insufficiently tailored to match their needs. Detailed information is lacking regarding care provided to people with MID in mental health services. AIMS: To compare mental health disorders and care provided to patients with and without MID in Dutch mental health services, including patients with missing MID status in the service files. METHOD: In this population-based database study, we used a Statistics Netherlands mental health service database, containing health insurance claims of patients who utilised advanced mental health services in 2015-2017. Patients with MID were identified by linking this database with Statistic Netherlands' social services and long-term care databases. RESULTS: We identified 7596 patients with MID, of whom 60.6% had no intellectual disability registration in the service files. Compared with patients without intellectual disability (n = 329 864), they had different profiles of mental health disorders. They received fewer diagnostic (odds ratio 0.71, 95% CI 0.67-0.75) and treatment activities (odds ratio 0.56, 95% CI 0.53-0.59), and required more interprofessional consultations outside of the service (odds ratio 2.06, 95% CI 1.97-2.16), crisis interventions (odds ratio 2.00, 95% CI 1.90-2.10) and mental health-related hospital admissions (odds ratio 1.72, 95% CI 1.63-1.82). CONCLUSIONS: Patients with MID in mental health services have different profiles of mental health disorders and care than patients without intellectual disability. In particular, fewer diagnostics and treatments are provided, especially in those with MID with no intellectual disability registration, putting patients with MID at risk of undertreatment and poorer mental health outcomes.

Contains fulltext : 291110.pdf (Publisher’s version ) (Open Access), BACKGROUND: Adults with mild intellectual disability (MID) experience more mental health disorders than the general population. However, mental healthcare may be insufficiently tailored to match their needs. Detailed information is lacking regarding care provided to people with MID in mental health services. AIMS: To compare mental health disorders and care provided to patients with and without MID in Dutch mental health services, including patients with missing MID status in the service files. METHOD: In this population-based database study, we used a Statistics Netherlands mental health service database, containing health insurance claims of patients who utilised advanced mental health services in 2015-2017. Patients with MID were identified by linking this database with Statistic Netherlands' social services and long-term care databases. RESULTS: We identified 7596 patients with MID, of whom 60.6% had no intellectual disability registration in the service files. Compared with patients without intellectual disability (n = 329 864), they had different profiles of mental health disorders. They received fewer diagnostic (odds ratio 0.71, 95% CI 0.67-0.75) and treatment activities (odds ratio 0.56, 95% CI 0.53-0.59), and required more interprofessional consultations outside of the service (odds ratio 2.06, 95% CI 1.97-2.16), crisis interventions (odds ratio 2.00, 95% CI 1.90-2.10) and mental health-related hospital admissions (odds ratio 1.72, 95% CI 1.63-1.82). CONCLUSIONS: Patients with MID in mental health services have different profiles of mental health disorders and care than patients without intellectual disability. In particular, fewer diagnostics and treatments are provided, especially in those with MID with no intellectual disability registration, putting patients with MID at risk of undertreatment and poorer mental health outcomes.

Item does not contain fulltext, BACKGROUND: GPs are increasingly confronted with patients with both intellectual disabilities (ID) and mental health disorders (MHD). Currently, the care provided to these patients is found to be insufficient, putting them at risk of developing more severe MHD. Improving the quality of GP care will improve the whole of mental health care for this patient group. Therefore, an overview of the content and quality of care provided to them by the GP may be helpful. AIM: To provide an up-to-date literature overview of the care provided by GPs to patients with ID and MHD, identify knowledge gaps, and inform research, practice, and policy about opportunities to improve care. DESIGN AND SETTING: Scoping review. METHOD: PubMed, PsycINFO, EMBASE, and grey literature were searched for publications concerning primary care and patients with ID and MHD. Selected publications were analysed qualitatively. RESULTS: One hundred publications met the inclusion criteria. Five overarching themes were identified: GP roles, knowledge and experience, caregiver roles, collaboration, and a standardised approach. The results show GPs' vital, diverse, and demanding roles in caring for patients with both ID and MHD. GPs experience problems in fulfilling their roles, and gaps are identified regarding effective GP training programmes, applicable guidelines and tools, optimal collaborative mental health care, and corresponding payment models. CONCLUSION: The improvement required in the current quality of GP care to patients with ID and MHD can be achieved by bridging the identified gaps and initiating close collaborations between care professionals, policymakers, and organisational managers.

Item does not contain fulltext, BACKGROUND: Out-of-hours primary care for people with intellectual disabilities (ID) involves different groups of health care professionals, who are often not familiar to one another nor to the specific health care needs of this vulnerable population. It is not known to what extend these specific health care needs or organizational factors influence the delivery of out-of-hours primary care for people with ID. OBJECTIVE: The objective of this study is to explore the experiences of health care professionals regarding the medical content and the organizational context of out-of-hours primary care for people with ID. METHODS: Semi-structured interviews were conducted with daily care professionals, triage nurses and general practitioners (GPs) involved in out-of-hours primary care for people with ID in the Netherlands. Interviews were thematically analysed for medical content and organizational context. RESULTS: The analysis resulted in four interconnected themes: (i) uncertainties in the triage assessment of ID patients; (ii) confusion about inter-professional responsibilities; (iii) impact on routines and workflow concerning ID patients and (iv) constraints in the decision-making process. All issues raised were related to the organizational context. CONCLUSIONS: Health care professionals involved in out-of-hours primary care for people with ID indicate that the quality of this care is more influenced by the organizational context than by the medical content. We recommend out-of-hours GP services and care provider services for people with ID to set standards for roles and responsibilities in order to facilitate health care professionals in delivering accessible and high-quality care to this vulnerable population.

Contains fulltext : 286074.pdf (Publisher’s version ) (Open Access)

Item does not contain fulltext, BACKGROUND: GPs are increasingly confronted with patients with both intellectual disabilities (ID) and mental health disorders (MHD). Currently, the care provided to these patients is found to be insufficient, putting them at risk of developing more severe MHD. Improving the quality of GP care will improve the whole of mental health care for this patient group. Therefore, an overview of the content and quality of care provided to them by the GP may be helpful. AIM: To provide an up-to-date literature overview of the care provided by GPs to patients with ID and MHD, identify knowledge gaps, and inform research, practice, and policy about opportunities to improve care. DESIGN AND SETTING: Scoping review. METHOD: PubMed, PsycINFO, EMBASE, and grey literature were searched for publications concerning primary care and patients with ID and MHD. Selected publications were analysed qualitatively. RESULTS: One hundred publications met the inclusion criteria. Five overarching themes were identified: GP roles, knowledge and experience, caregiver roles, collaboration, and a standardised approach. The results show GPs' vital, diverse, and demanding roles in caring for patients with both ID and MHD. GPs experience problems in fulfilling their roles, and gaps are identified regarding effective GP training programmes, applicable guidelines and tools, optimal collaborative mental health care, and corresponding payment models. CONCLUSION: The improvement required in the current quality of GP care to patients with ID and MHD can be achieved by bridging the identified gaps and initiating close collaborations between care professionals, policymakers, and organisational managers.

Contains fulltext : 249110.pdf (Publisher’s version ) (Closed access), BACKGROUND: Out-of-hours primary care for people with intellectual disabilities (ID) involves different groups of health care professionals, who are often not familiar to one another nor to the specific health care needs of this vulnerable population. It is not known to what extend these specific health care needs or organizational factors influence the delivery of out-of-hours primary care for people with ID. OBJECTIVE: The objective of this study is to explore the experiences of health care professionals regarding the medical content and the organizational context of out-of-hours primary care for people with ID. METHODS: Semi-structured interviews were conducted with daily care professionals, triage nurses and general practitioners (GPs) involved in out-of-hours primary care for people with ID in the Netherlands. Interviews were thematically analysed for medical content and organizational context. RESULTS: The analysis resulted in four interconnected themes: (i) uncertainties in the triage assessment of ID patients; (ii) confusion about inter-professional responsibilities; (iii) impact on routines and workflow concerning ID patients and (iv) constraints in the decision-making process. All issues raised were related to the organizational context. CONCLUSIONS: Health care professionals involved in out-of-hours primary care for people with ID indicate that the quality of this care is more influenced by the organizational context than by the medical content. We recommend out-of-hours GP services and care provider services for people with ID to set standards for roles and responsibilities in order to facilitate health care professionals in delivering accessible and high-quality care to this vulnerable population.

Contains fulltext : 249070.pdf (Publisher’s version ) (Open Access), BACKGROUND: GPs are increasingly confronted with patients with both intellectual disabilities (ID) and mental health disorders (MHD). Currently, the care provided to these patients is found to be insufficient, putting them at risk of developing more severe MHD. Improving the quality of GP care will improve the whole of mental health care for this patient group. Therefore, an overview of the content and quality of care provided to them by the GP may be helpful. AIM: To provide an up-to-date literature overview of the care provided by GPs to patients with ID and MHD, identify knowledge gaps, and inform research, practice, and policy about opportunities to improve care. DESIGN AND SETTING: Scoping review. METHOD: PubMed, PsycINFO, EMBASE, and grey literature were searched for publications concerning primary care and patients with ID and MHD. Selected publications were analysed qualitatively. RESULTS: One hundred publications met the inclusion criteria. Five overarching themes were identified: GP roles, knowledge and experience, caregiver roles, collaboration, and a standardised approach. The results show GPs' vital, diverse, and demanding roles in caring for patients with both ID and MHD. GPs experience problems in fulfilling their roles, and gaps are identified regarding effective GP training programmes, applicable guidelines and tools, optimal collaborative mental health care, and corresponding payment models. CONCLUSION: The improvement required in the current quality of GP care to patients with ID and MHD can be achieved by bridging the identified gaps and initiating close collaborations between care professionals, policymakers, and organisational managers.

Contains fulltext : 249110.pdf (Publisher’s version ) (Closed access), BACKGROUND: Out-of-hours primary care for people with intellectual disabilities (ID) involves different groups of health care professionals, who are often not familiar to one another nor to the specific health care needs of this vulnerable population. It is not known to what extend these specific health care needs or organizational factors influence the delivery of out-of-hours primary care for people with ID. OBJECTIVE: The objective of this study is to explore the experiences of health care professionals regarding the medical content and the organizational context of out-of-hours primary care for people with ID. METHODS: Semi-structured interviews were conducted with daily care professionals, triage nurses and general practitioners (GPs) involved in out-of-hours primary care for people with ID in the Netherlands. Interviews were thematically analysed for medical content and organizational context. RESULTS: The analysis resulted in four interconnected themes: (i) uncertainties in the triage assessment of ID patients; (ii) confusion about inter-professional responsibilities; (iii) impact on routines and workflow concerning ID patients and (iv) constraints in the decision-making process. All issues raised were related to the organizational context. CONCLUSIONS: Health care professionals involved in out-of-hours primary care for people with ID indicate that the quality of this care is more influenced by the organizational context than by the medical content. We recommend out-of-hours GP services and care provider services for people with ID to set standards for roles and responsibilities in order to facilitate health care professionals in delivering accessible and high-quality care to this vulnerable population.

Contains fulltext : 286074.pdf (Publisher’s version ) (Open Access)

Contains fulltext : 232554.pdf (Publisher’s version ) (Closed access), BACKGROUND: People with intellectual disabilities often have low health literacy as a result of their limited language comprehension. The aim of this study was to explore the difficulties Dutch people with intellectual disabilities experience during the process of considering and seeking medical help from their GP. The study was intended as input for an online intervention supporting health literacy. METHODS: A qualitative study, in which 12 semi-structured interviews were conducted with people with mild intellectual disabilities and 4 with relatives of people with mild intellectual disabilities. The interviews were analysed following the principles of thematic analysis. RESULTS: Difficulties were experienced in the following activities: assessing and proactively reacting to health complaints, processing health information, communicating with a GP and retaining information from the consultation. Support workers and relatives play an important role in all these activities. CONCLUSIONS: To increase the capacity of people with intellectual disabilities to manage their health and seek care from their GP, it is important to support them in the activities they find difficult. Recommendations resulting from the study have been incorporated in an online intervention.

Contains fulltext : 232262.pdf (Publisher’s version ) (Open Access)

Contains fulltext : 232554.pdf (Publisher’s version ) (Closed access), BACKGROUND: People with intellectual disabilities often have low health literacy as a result of their limited language comprehension. The aim of this study was to explore the difficulties Dutch people with intellectual disabilities experience during the process of considering and seeking medical help from their GP. The study was intended as input for an online intervention supporting health literacy. METHODS: A qualitative study, in which 12 semi-structured interviews were conducted with people with mild intellectual disabilities and 4 with relatives of people with mild intellectual disabilities. The interviews were analysed following the principles of thematic analysis. RESULTS: Difficulties were experienced in the following activities: assessing and proactively reacting to health complaints, processing health information, communicating with a GP and retaining information from the consultation. Support workers and relatives play an important role in all these activities. CONCLUSIONS: To increase the capacity of people with intellectual disabilities to manage their health and seek care from their GP, it is important to support them in the activities they find difficult. Recommendations resulting from the study have been incorporated in an online intervention.

Contains fulltext : 232262.pdf (Publisher’s version ) (Open Access)

Contains fulltext : 232554.pdf (Publisher’s version ) (Closed access), BACKGROUND: People with intellectual disabilities often have low health literacy as a result of their limited language comprehension. The aim of this study was to explore the difficulties Dutch people with intellectual disabilities experience during the process of considering and seeking medical help from their GP. The study was intended as input for an online intervention supporting health literacy. METHODS: A qualitative study, in which 12 semi-structured interviews were conducted with people with mild intellectual disabilities and 4 with relatives of people with mild intellectual disabilities. The interviews were analysed following the principles of thematic analysis. RESULTS: Difficulties were experienced in the following activities: assessing and proactively reacting to health complaints, processing health information, communicating with a GP and retaining information from the consultation. Support workers and relatives play an important role in all these activities. CONCLUSIONS: To increase the capacity of people with intellectual disabilities to manage their health and seek care from their GP, it is important to support them in the activities they find difficult. Recommendations resulting from the study have been incorporated in an online intervention.

Contains fulltext : 232262.pdf (Publisher’s version ) (Open Access)

Contains fulltext : 177903.pdf (publisher's version ) (Closed access), OBJECTIVE: Accurate health information exchange (HIE) is fragile in healthcare for patients with intellectual disabilities (ID), threatening the health outcomes for this patient group. In conjunction with a group of experts, we aimed to identify the principal actions and organisational factors facilitating HIE for primary care patients with ID and to assess their perceived feasibility in daily practice. METHODS: We conducted a two-round modified Delphi study with Dutch GPs (n=22), support workers (n=18) and ID physicians (n=20). In an extensive set of 61 items covering actions and organisational factors, experts ranked items in order of importance and rated their feasibility. RESULTS: Agreement was reached on the importance of 22 actions and eight organisational factors, of which 82% were deemed (very) feasible in daily practice. Experts stressed the importance of listed actions and factors being implemented simultaneously and remarked that further priority should be based on contextual demands. CONCLUSION AND PRACTICE IMPLICATIONS: This study indicates the principal actions and organisational factors for HIE regarding primary care patients with ID. The set can be used as a practical guide to optimise inter-professional cooperation and arrange the distribution of HIE roles and responsibilities in relation to this patient group.

Radboud University, 23 oktober 2017, Promotores : Schrojenstein Lantman, H.M.J. van, Lagro-Janssen, A.L.M. Co-promotores : Naaldenberg, J., Leusink, G.L., Contains fulltext : 176470.pdf (publisher's version ) (Open Access), People with intellectual disabilities (ID) have a considerably worse health than people without ID, for a great part related to the quality of healthcare provision and health communication. This research studied health information exchange (HIE) between people with ID, their support network, and general practices. The results show that inadequate HIE should be seen as a chain of events leading to less effective consultations, substandard treatment and insufficient patient follow-up. Although patients’ characteristics contribute strongly to HIE problems, the extent to which they exert an effect on HIE is particularly dependent on the degree to which the care environment is able to adjust to these characteristics. To a large extent, it is the organisational environment that in turn facilitates or hinders carers and health professionals in their efforts to adapt to patients’ characteristics. The results contain a prioritised set of actions and organisational factors perceived well feasible and conditional to effective HIE. The study concludes that, with regard to patient health information, there is considerable potential in patients themselves, but also in the collaboration between professionals, provided all parties involved feel a shared responsibility and willingness to invest time and energy.

Contains fulltext : 177903.pdf (publisher's version ) (Closed access), OBJECTIVE: Accurate health information exchange (HIE) is fragile in healthcare for patients with intellectual disabilities (ID), threatening the health outcomes for this patient group. In conjunction with a group of experts, we aimed to identify the principal actions and organisational factors facilitating HIE for primary care patients with ID and to assess their perceived feasibility in daily practice. METHODS: We conducted a two-round modified Delphi study with Dutch GPs (n=22), support workers (n=18) and ID physicians (n=20). In an extensive set of 61 items covering actions and organisational factors, experts ranked items in order of importance and rated their feasibility. RESULTS: Agreement was reached on the importance of 22 actions and eight organisational factors, of which 82% were deemed (very) feasible in daily practice. Experts stressed the importance of listed actions and factors being implemented simultaneously and remarked that further priority should be based on contextual demands. CONCLUSION AND PRACTICE IMPLICATIONS: This study indicates the principal actions and organisational factors for HIE regarding primary care patients with ID. The set can be used as a practical guide to optimise inter-professional cooperation and arrange the distribution of HIE roles and responsibilities in relation to this patient group.

Radboud University, 23 oktober 2017, Promotores : Schrojenstein Lantman, H.M.J. van, Lagro-Janssen, A.L.M. Co-promotores : Naaldenberg, J., Leusink, G.L., Contains fulltext : 176470.pdf (publisher's version ) (Open Access), People with intellectual disabilities (ID) have a considerably worse health than people without ID, for a great part related to the quality of healthcare provision and health communication. This research studied health information exchange (HIE) between people with ID, their support network, and general practices. The results show that inadequate HIE should be seen as a chain of events leading to less effective consultations, substandard treatment and insufficient patient follow-up. Although patients’ characteristics contribute strongly to HIE problems, the extent to which they exert an effect on HIE is particularly dependent on the degree to which the care environment is able to adjust to these characteristics. To a large extent, it is the organisational environment that in turn facilitates or hinders carers and health professionals in their efforts to adapt to patients’ characteristics. The results contain a prioritised set of actions and organisational factors perceived well feasible and conditional to effective HIE. The study concludes that, with regard to patient health information, there is considerable potential in patients themselves, but also in the collaboration between professionals, provided all parties involved feel a shared responsibility and willingness to invest time and energy.

Radboud University, 23 oktober 2017, Promotores : Schrojenstein Lantman, H.M.J. van, Lagro-Janssen, A.L.M. Co-promotores : Naaldenberg, J., Leusink, G.L., Contains fulltext : 176470.pdf (publisher's version ) (Open Access), People with intellectual disabilities (ID) have a considerably worse health than people without ID, for a great part related to the quality of healthcare provision and health communication. This research studied health information exchange (HIE) between people with ID, their support network, and general practices. The results show that inadequate HIE should be seen as a chain of events leading to less effective consultations, substandard treatment and insufficient patient follow-up. Although patients’ characteristics contribute strongly to HIE problems, the extent to which they exert an effect on HIE is particularly dependent on the degree to which the care environment is able to adjust to these characteristics. To a large extent, it is the organisational environment that in turn facilitates or hinders carers and health professionals in their efforts to adapt to patients’ characteristics. The results contain a prioritised set of actions and organisational factors perceived well feasible and conditional to effective HIE. The study concludes that, with regard to patient health information, there is considerable potential in patients themselves, but also in the collaboration between professionals, provided all parties involved feel a shared responsibility and willingness to invest time and energy.

Contains fulltext : 177903.pdf (publisher's version ) (Closed access), OBJECTIVE: Accurate health information exchange (HIE) is fragile in healthcare for patients with intellectual disabilities (ID), threatening the health outcomes for this patient group. In conjunction with a group of experts, we aimed to identify the principal actions and organisational factors facilitating HIE for primary care patients with ID and to assess their perceived feasibility in daily practice. METHODS: We conducted a two-round modified Delphi study with Dutch GPs (n=22), support workers (n=18) and ID physicians (n=20). In an extensive set of 61 items covering actions and organisational factors, experts ranked items in order of importance and rated their feasibility. RESULTS: Agreement was reached on the importance of 22 actions and eight organisational factors, of which 82% were deemed (very) feasible in daily practice. Experts stressed the importance of listed actions and factors being implemented simultaneously and remarked that further priority should be based on contextual demands. CONCLUSION AND PRACTICE IMPLICATIONS: This study indicates the principal actions and organisational factors for HIE regarding primary care patients with ID. The set can be used as a practical guide to optimise inter-professional cooperation and arrange the distribution of HIE roles and responsibilities in relation to this patient group.

Contains fulltext : 170826.pdf (publisher's version ) (Closed access), BACKGROUND: Inadequate health information exchange (HIE) between patients with intellectual disabilities (ID), their carers, and GPs may lead to ineffective treatment and poor treatment compliance. Factors influencing HIE are largely unexplored in previous research. AIM: To provide insight into the perceived HIE facilitators of GPs and general practice assistants, and the barriers in GP consultations for patients with ID. DESIGN AND SETTING: An interview-based study with GPs (n = 19) and general practice assistants (n = 11) in the Netherlands. METHOD: Semi-structured interviews were conducted on topics relating to stages during and around GP consultation. Transcripts were coded and analysed using framework analysis. RESULTS: The main themes were impaired medical history taking and clinical decision making, and fragile patient follow-up. Factors negatively influencing HIE related to patient communication skills and professional carers' actions in preparing the consultation and in collecting, recording, and sharing information. HIE barriers resulted in risk of delay in diagnosis and treatment, misdiagnosis, unnecessary tests, and ineffective treatment regimens. HIE facilitators were described in terms of GP adjustments in communication, planning of consultations, and efforts to compensate for fragile follow-up situations. CONCLUSION: Inadequate HIE should be seen as a chain of events leading to less effective consultations, substandard treatment, and insufficient patient follow-up. The results indicate a mismatch between GPs' expectations about professional carers' competencies, responsibilities, and roles in HIE and the setting in which professional carers operate. Further research should focus on how daily GP practice can be attuned to the practicalities of HIE with patients with ID and their professional carers.

Contains fulltext : 170823.pdf (publisher's version ) (Closed access), BACKGROUND: Accurate health information exchange (HIE) is pivotal for good quality of care. However, patients with intellectual disabilities (ID) face challenges in processing and exchanging health information around GP consultations. Knowledge of HIE barriers and facilitators, including the roles of carers, may help to improve GP care for people with ID. OBJECTIVE: To gain more insight into HIE barriers and facilitators for ID patients in GP care. METHODS: A qualitative study exploring GP consultation experiences of people with ID (n = 35), professional carers (n = 20) and relatives (n = 15). Transcripts from interviews and focus groups were analyzed using a framework analysis approach. RESULTS: Analyses resulted in four themes: (i) Recognizing patient health needs; (ii) Impaired doctor-patient communication; (iii) Carers' mediating roles during consultations; and (iv) Patients' autonomy and self-determination. Barriers related to communication skills, lack of time, continuity of carers and physicians, information alignment between relative or professional carer and the GP, and information transfer and recording within the patient network. Facilitating factors related mainly to carer interventions, personal connections with patients and GP communication with patients and carers outside the consultation. CONCLUSION: There is considerable HIE potential in patients themselves, as well as in their network, although many barriers have to be overcome to profit from this. GP practices are recommended to adjust consultations and communication practices and to facilitate deployment of the patient's network, while still considering patient autonomy.

Contains fulltext : 170826.pdf (publisher's version ) (Closed access), BACKGROUND: Inadequate health information exchange (HIE) between patients with intellectual disabilities (ID), their carers, and GPs may lead to ineffective treatment and poor treatment compliance. Factors influencing HIE are largely unexplored in previous research. AIM: To provide insight into the perceived HIE facilitators of GPs and general practice assistants, and the barriers in GP consultations for patients with ID. DESIGN AND SETTING: An interview-based study with GPs (n = 19) and general practice assistants (n = 11) in the Netherlands. METHOD: Semi-structured interviews were conducted on topics relating to stages during and around GP consultation. Transcripts were coded and analysed using framework analysis. RESULTS: The main themes were impaired medical history taking and clinical decision making, and fragile patient follow-up. Factors negatively influencing HIE related to patient communication skills and professional carers' actions in preparing the consultation and in collecting, recording, and sharing information. HIE barriers resulted in risk of delay in diagnosis and treatment, misdiagnosis, unnecessary tests, and ineffective treatment regimens. HIE facilitators were described in terms of GP adjustments in communication, planning of consultations, and efforts to compensate for fragile follow-up situations. CONCLUSION: Inadequate HIE should be seen as a chain of events leading to less effective consultations, substandard treatment, and insufficient patient follow-up. The results indicate a mismatch between GPs' expectations about professional carers' competencies, responsibilities, and roles in HIE and the setting in which professional carers operate. Further research should focus on how daily GP practice can be attuned to the practicalities of HIE with patients with ID and their professional carers.

Contains fulltext : 170823.pdf (publisher's version ) (Closed access), BACKGROUND: Accurate health information exchange (HIE) is pivotal for good quality of care. However, patients with intellectual disabilities (ID) face challenges in processing and exchanging health information around GP consultations. Knowledge of HIE barriers and facilitators, including the roles of carers, may help to improve GP care for people with ID. OBJECTIVE: To gain more insight into HIE barriers and facilitators for ID patients in GP care. METHODS: A qualitative study exploring GP consultation experiences of people with ID (n = 35), professional carers (n = 20) and relatives (n = 15). Transcripts from interviews and focus groups were analyzed using a framework analysis approach. RESULTS: Analyses resulted in four themes: (i) Recognizing patient health needs; (ii) Impaired doctor-patient communication; (iii) Carers' mediating roles during consultations; and (iv) Patients' autonomy and self-determination. Barriers related to communication skills, lack of time, continuity of carers and physicians, information alignment between relative or professional carer and the GP, and information transfer and recording within the patient network. Facilitating factors related mainly to carer interventions, personal connections with patients and GP communication with patients and carers outside the consultation. CONCLUSION: There is considerable HIE potential in patients themselves, as well as in their network, although many barriers have to be overcome to profit from this. GP practices are recommended to adjust consultations and communication practices and to facilitate deployment of the patient's network, while still considering patient autonomy.

Contains fulltext : 170823.pdf (publisher's version ) (Closed access), BACKGROUND: Accurate health information exchange (HIE) is pivotal for good quality of care. However, patients with intellectual disabilities (ID) face challenges in processing and exchanging health information around GP consultations. Knowledge of HIE barriers and facilitators, including the roles of carers, may help to improve GP care for people with ID. OBJECTIVE: To gain more insight into HIE barriers and facilitators for ID patients in GP care. METHODS: A qualitative study exploring GP consultation experiences of people with ID (n = 35), professional carers (n = 20) and relatives (n = 15). Transcripts from interviews and focus groups were analyzed using a framework analysis approach. RESULTS: Analyses resulted in four themes: (i) Recognizing patient health needs; (ii) Impaired doctor-patient communication; (iii) Carers' mediating roles during consultations; and (iv) Patients' autonomy and self-determination. Barriers related to communication skills, lack of time, continuity of carers and physicians, information alignment between relative or professional carer and the GP, and information transfer and recording within the patient network. Facilitating factors related mainly to carer interventions, personal connections with patients and GP communication with patients and carers outside the consultation. CONCLUSION: There is considerable HIE potential in patients themselves, as well as in their network, although many barriers have to be overcome to profit from this. GP practices are recommended to adjust consultations and communication practices and to facilitate deployment of the patient's network, while still considering patient autonomy.

Contains fulltext : 170826.pdf (publisher's version ) (Closed access), BACKGROUND: Inadequate health information exchange (HIE) between patients with intellectual disabilities (ID), their carers, and GPs may lead to ineffective treatment and poor treatment compliance. Factors influencing HIE are largely unexplored in previous research. AIM: To provide insight into the perceived HIE facilitators of GPs and general practice assistants, and the barriers in GP consultations for patients with ID. DESIGN AND SETTING: An interview-based study with GPs (n = 19) and general practice assistants (n = 11) in the Netherlands. METHOD: Semi-structured interviews were conducted on topics relating to stages during and around GP consultation. Transcripts were coded and analysed using framework analysis. RESULTS: The main themes were impaired medical history taking and clinical decision making, and fragile patient follow-up. Factors negatively influencing HIE related to patient communication skills and professional carers' actions in preparing the consultation and in collecting, recording, and sharing information. HIE barriers resulted in risk of delay in diagnosis and treatment, misdiagnosis, unnecessary tests, and ineffective treatment regimens. HIE facilitators were described in terms of GP adjustments in communication, planning of consultations, and efforts to compensate for fragile follow-up situations. CONCLUSION: Inadequate HIE should be seen as a chain of events leading to less effective consultations, substandard treatment, and insufficient patient follow-up. The results indicate a mismatch between GPs' expectations about professional carers' competencies, responsibilities, and roles in HIE and the setting in which professional carers operate. Further research should focus on how daily GP practice can be attuned to the practicalities of HIE with patients with ID and their professional carers.

Item does not contain fulltext, Many barriers to the provision of general practice (GP) care for people with intellectual disabilities (ID) relate to problems in exchanging health information. Deficits in the exchange of health information may have an adverse impact on healthcare access and health outcomes in individuals with ID. The aim of this paper is to report how health information exchange (HIE) in GP care for people with ID is being described in the ID healthcare literature. Thematic analysis of 19 included articles resulted in six major themes: (1) communication skills; (2) organisational factors; (3) record keeping and sharing; (4) health literacy and self-advocacy; (5) carers and health professionals' knowledge; and (6) third parties. The results indicate that HIE takes place in a chain of events happening before, during, and after a medical consultation, depending on specific contextual care factors. The included papers lack a broad focus on the entire HIE process, and causes and effects of gaps in health information are described only marginally or on a very general level. However, a study of the HIE process in its entirety is imperative in order to identify weak links and gaps in information pathways. The themes presented here provide a starting point for an in-depth study on the HIE process in GP care for individuals with ID that may facilitate future research on health interventions in this setting.

Item does not contain fulltext, Many barriers to the provision of general practice (GP) care for people with intellectual disabilities (ID) relate to problems in exchanging health information. Deficits in the exchange of health information may have an adverse impact on healthcare access and health outcomes in individuals with ID. The aim of this paper is to report how health information exchange (HIE) in GP care for people with ID is being described in the ID healthcare literature. Thematic analysis of 19 included articles resulted in six major themes: (1) communication skills; (2) organisational factors; (3) record keeping and sharing; (4) health literacy and self-advocacy; (5) carers and health professionals' knowledge; and (6) third parties. The results indicate that HIE takes place in a chain of events happening before, during, and after a medical consultation, depending on specific contextual care factors. The included papers lack a broad focus on the entire HIE process, and causes and effects of gaps in health information are described only marginally or on a very general level. However, a study of the HIE process in its entirety is imperative in order to identify weak links and gaps in information pathways. The themes presented here provide a starting point for an in-depth study on the HIE process in GP care for individuals with ID that may facilitate future research on health interventions in this setting.

Item does not contain fulltext, Many barriers to the provision of general practice (GP) care for people with intellectual disabilities (ID) relate to problems in exchanging health information. Deficits in the exchange of health information may have an adverse impact on healthcare access and health outcomes in individuals with ID. The aim of this paper is to report how health information exchange (HIE) in GP care for people with ID is being described in the ID healthcare literature. Thematic analysis of 19 included articles resulted in six major themes: (1) communication skills; (2) organisational factors; (3) record keeping and sharing; (4) health literacy and self-advocacy; (5) carers and health professionals' knowledge; and (6) third parties. The results indicate that HIE takes place in a chain of events happening before, during, and after a medical consultation, depending on specific contextual care factors. The included papers lack a broad focus on the entire HIE process, and causes and effects of gaps in health information are described only marginally or on a very general level. However, a study of the HIE process in its entirety is imperative in order to identify weak links and gaps in information pathways. The themes presented here provide a starting point for an in-depth study on the HIE process in GP care for individuals with ID that may facilitate future research on health interventions in this setting.

Item does not contain fulltext, Kleefstra syndrome is characterized by the core phenotype of developmental delay/intellectual disability, (childhood) hypotonia and distinct facial features. The syndrome can be either caused by a microdeletion in chromosomal region 9q34.3 or by a mutation in the euchromatin histone methyltransferase 1 (EHMT1) gene. Since the early 1990s, 85 patients have been described, of which the majority had a 9q34.3 microdeletion (>85%). So far, no clear genotype-phenotype correlation could be observed by studying the clinical and molecular features of both 9q34.3 microdeletion patients and patients with an intragenic EHMT1 mutation. Thus, to further expand the genotypic and phenotypic knowledge about the syndrome, we here report 29 newly diagnosed patients, including 16 patients with a 9q34.3 microdeletion and 13 patients with an EHMT1 mutation, and review previous literature. The present findings are comparable to previous reports. In addition to our former findings and recommendations, we suggest cardiac screening during follow-up, because of the possible occurrence of cardiac arrhythmias. In addition, clinicians and caretakers should be aware of the regressive behavioral phenotype that might develop at adolescent/adult age and seems to have no clear neurological substrate, but is rather a so far unexplained neuropsychiatric feature.

Item does not contain fulltext, Kleefstra syndrome is characterized by the core phenotype of developmental delay/intellectual disability, (childhood) hypotonia and distinct facial features. The syndrome can be either caused by a microdeletion in chromosomal region 9q34.3 or by a mutation in the euchromatin histone methyltransferase 1 (EHMT1) gene. Since the early 1990s, 85 patients have been described, of which the majority had a 9q34.3 microdeletion (>85%). So far, no clear genotype-phenotype correlation could be observed by studying the clinical and molecular features of both 9q34.3 microdeletion patients and patients with an intragenic EHMT1 mutation. Thus, to further expand the genotypic and phenotypic knowledge about the syndrome, we here report 29 newly diagnosed patients, including 16 patients with a 9q34.3 microdeletion and 13 patients with an EHMT1 mutation, and review previous literature. The present findings are comparable to previous reports. In addition to our former findings and recommendations, we suggest cardiac screening during follow-up, because of the possible occurrence of cardiac arrhythmias. In addition, clinicians and caretakers should be aware of the regressive behavioral phenotype that might develop at adolescent/adult age and seems to have no clear neurological substrate, but is rather a so far unexplained neuropsychiatric feature.

Item does not contain fulltext, Kleefstra syndrome is characterized by the core phenotype of developmental delay/intellectual disability, (childhood) hypotonia and distinct facial features. The syndrome can be either caused by a microdeletion in chromosomal region 9q34.3 or by a mutation in the euchromatin histone methyltransferase 1 (EHMT1) gene. Since the early 1990s, 85 patients have been described, of which the majority had a 9q34.3 microdeletion (>85%). So far, no clear genotype-phenotype correlation could be observed by studying the clinical and molecular features of both 9q34.3 microdeletion patients and patients with an intragenic EHMT1 mutation. Thus, to further expand the genotypic and phenotypic knowledge about the syndrome, we here report 29 newly diagnosed patients, including 16 patients with a 9q34.3 microdeletion and 13 patients with an EHMT1 mutation, and review previous literature. The present findings are comparable to previous reports. In addition to our former findings and recommendations, we suggest cardiac screening during follow-up, because of the possible occurrence of cardiac arrhythmias. In addition, clinicians and caretakers should be aware of the regressive behavioral phenotype that might develop at adolescent/adult age and seems to have no clear neurological substrate, but is rather a so far unexplained neuropsychiatric feature.

Contains fulltext : 96723.pdf (publisher's version ) (Closed access), Background MicroRNAs (miRNAs) are non-coding gene transcripts involved in post-transcriptional regulation of genes. Recent studies identified miRNAs as important regulators of learning and memory in model organisms. So far, no mutations in specific miRNA genes have been associated with impaired cognitive functions. Methods and results In three sibs and two unrelated patients with intellectual disability (ID), overlapping 1p21.3 deletions were detected by genome-wide array analysis. The shortest region of overlap included dihydropyrimidine dehydrogenase (DPYD) and microRNA 137 (MIR137). DPYD is involved in autosomal recessive dihydropyrimidine dehydrogenase deficiency. Hemizygous DPYD deletions were previously suggested to contribute to a phenotype with autism spectrum disorder and speech delay. Interestingly, the mature microRNA transcript microRNA-137 (miR-137) was recently shown to be involved in modulating neurogenesis in adult murine neuronal stem cells. Therefore, this study investigated the possible involvement of MIR137 in the 1p21.3-deletion phenotype. The patients displayed a significantly decreased expression of both precursor and mature miR-137 levels, as well as significantly increased expression of the validated downstream targets microphthalmia-associated transcription factor (MITF) and Enhancer of Zeste, Drosophila, Homologue 2 (EZH2), and the newly identified target Kruppel-like factor 4 (KLF4). The study also demonstrated significant enrichment of miR-137 at the synapses of cortical and hippocampal neurons, suggesting a role of miR-137 in regulating local synaptic protein synthesis machinery. Conclusions This study showed that dosage effects of MIR137 are associated with 1p21.3 microdeletions and may therefore contribute to the ID phenotype in patients with deletions harbouring this miRNA. A local effect at the synapse might be responsible.

Contains fulltext : 96723.pdf (publisher's version ) (Closed access), Background MicroRNAs (miRNAs) are non-coding gene transcripts involved in post-transcriptional regulation of genes. Recent studies identified miRNAs as important regulators of learning and memory in model organisms. So far, no mutations in specific miRNA genes have been associated with impaired cognitive functions. Methods and results In three sibs and two unrelated patients with intellectual disability (ID), overlapping 1p21.3 deletions were detected by genome-wide array analysis. The shortest region of overlap included dihydropyrimidine dehydrogenase (DPYD) and microRNA 137 (MIR137). DPYD is involved in autosomal recessive dihydropyrimidine dehydrogenase deficiency. Hemizygous DPYD deletions were previously suggested to contribute to a phenotype with autism spectrum disorder and speech delay. Interestingly, the mature microRNA transcript microRNA-137 (miR-137) was recently shown to be involved in modulating neurogenesis in adult murine neuronal stem cells. Therefore, this study investigated the possible involvement of MIR137 in the 1p21.3-deletion phenotype. The patients displayed a significantly decreased expression of both precursor and mature miR-137 levels, as well as significantly increased expression of the validated downstream targets microphthalmia-associated transcription factor (MITF) and Enhancer of Zeste, Drosophila, Homologue 2 (EZH2), and the newly identified target Kruppel-like factor 4 (KLF4). The study also demonstrated significant enrichment of miR-137 at the synapses of cortical and hippocampal neurons, suggesting a role of miR-137 in regulating local synaptic protein synthesis machinery. Conclusions This study showed that dosage effects of MIR137 are associated with 1p21.3 microdeletions and may therefore contribute to the ID phenotype in patients with deletions harbouring this miRNA. A local effect at the synapse might be responsible.

Contains fulltext : 96723.pdf (Publisher’s version ) (Closed access), Background MicroRNAs (miRNAs) are non-coding gene transcripts involved in post-transcriptional regulation of genes. Recent studies identified miRNAs as important regulators of learning and memory in model organisms. So far, no mutations in specific miRNA genes have been associated with impaired cognitive functions. Methods and results In three sibs and two unrelated patients with intellectual disability (ID), overlapping 1p21.3 deletions were detected by genome-wide array analysis. The shortest region of overlap included dihydropyrimidine dehydrogenase (DPYD) and microRNA 137 (MIR137). DPYD is involved in autosomal recessive dihydropyrimidine dehydrogenase deficiency. Hemizygous DPYD deletions were previously suggested to contribute to a phenotype with autism spectrum disorder and speech delay. Interestingly, the mature microRNA transcript microRNA-137 (miR-137) was recently shown to be involved in modulating neurogenesis in adult murine neuronal stem cells. Therefore, this study investigated the possible involvement of MIR137 in the 1p21.3-deletion phenotype. The patients displayed a significantly decreased expression of both precursor and mature miR-137 levels, as well as significantly increased expression of the validated downstream targets microphthalmia-associated transcription factor (MITF) and Enhancer of Zeste, Drosophila, Homologue 2 (EZH2), and the newly identified target Kruppel-like factor 4 (KLF4). The study also demonstrated significant enrichment of miR-137 at the synapses of cortical and hippocampal neurons, suggesting a role of miR-137 in regulating local synaptic protein synthesis machinery. Conclusions This study showed that dosage effects of MIR137 are associated with 1p21.3 microdeletions and may therefore contribute to the ID phenotype in patients with deletions harbouring this miRNA. A local effect at the synapse might be responsible.