Samantha Scott, Katherine C Okoniewski, Anne Edwards, Anne C Wheeler
Background: This study examined the experiences of infants diagnosed with fragile X syndrome (FXS) in the newborn period and their caregivers during the infant's first year of life. The primary objective was to understand caregiver concerns and access to early intervention services for infants diagnosed with FXS presymptomatically.
Methods: Participants for this study were part of a pilot intervention programme for newborns with FXS and their caregivers. A mixed-methods approach was taken combining data from caregiver questionnaires as well as intervention session notes to identify caregiver concerns and early intervention services.
Results: Caregivers of infants with FXS consistently reported concerns in motor development in the first few months of life with increasing concern regarding communication development closer to 12 months of age. Despite all being eligible based on having an established condition and instruction for accessing early intervention services provided by the intervention team, only half of participants were enrolled in their state's Part C programme by the child's first birthday. Occupational therapy was the most accessed service (33% of infants), followed by physical therapy (27%), feeding therapy (20%), speech therapy (13%) and developmental play therapy (7%).
Conclusions: Although one of the main benefits of earlier diagnosis is purported to be earlier access to interventions, we found infants diagnosed with FXS prior to emergence of symptoms experienced barriers to accessing early intervention services, despite FXS being an established condition for Part C services. These findings highlight the need for further exploration of the referral process for infants diagnosed with neurogenetic conditions in infancy.
{"title":"From Concerns to Care: Understanding Parental Priorities and Access to Early Intervention for Infants With Fragile X Syndrome.","authors":"Samantha Scott, Katherine C Okoniewski, Anne Edwards, Anne C Wheeler","doi":"10.1111/jir.70080","DOIUrl":"https://doi.org/10.1111/jir.70080","url":null,"abstract":"<p><strong>Background: </strong>This study examined the experiences of infants diagnosed with fragile X syndrome (FXS) in the newborn period and their caregivers during the infant's first year of life. The primary objective was to understand caregiver concerns and access to early intervention services for infants diagnosed with FXS presymptomatically.</p><p><strong>Methods: </strong>Participants for this study were part of a pilot intervention programme for newborns with FXS and their caregivers. A mixed-methods approach was taken combining data from caregiver questionnaires as well as intervention session notes to identify caregiver concerns and early intervention services.</p><p><strong>Results: </strong>Caregivers of infants with FXS consistently reported concerns in motor development in the first few months of life with increasing concern regarding communication development closer to 12 months of age. Despite all being eligible based on having an established condition and instruction for accessing early intervention services provided by the intervention team, only half of participants were enrolled in their state's Part C programme by the child's first birthday. Occupational therapy was the most accessed service (33% of infants), followed by physical therapy (27%), feeding therapy (20%), speech therapy (13%) and developmental play therapy (7%).</p><p><strong>Conclusions: </strong>Although one of the main benefits of earlier diagnosis is purported to be earlier access to interventions, we found infants diagnosed with FXS prior to emergence of symptoms experienced barriers to accessing early intervention services, despite FXS being an established condition for Part C services. These findings highlight the need for further exploration of the referral process for infants diagnosed with neurogenetic conditions in infancy.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145989704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Anna Wiegand, Philipp Mathmann, Susanne Wasmuth, Lukas Prein, Ross Parfitt, Martin Scharpenberg, Vincent Jankovic, Katharina Schwarze, Anja Neumann, Karolin Schäfer, Christian Speckemeier, Sven Baessler, Sarah Schlierenkamp, Sandra Diekmann, Nicole Stuhrmann, Ruth Lang-Roth, Muhittin Demir, Werner Brannath, Awa Naghipour, Susanna Marie Zielonkowski, Anna Sophia Schwalen, Corinna Gietmann, Katrin Neumann
<p><strong>Background: </strong>Individuals with intellectual disabilities are at higher risk of undiagnosed or inadequately treated hearing loss. This situation requires easily accessible hearing screening, diagnostics and intervention programmes in the living environment, i.e., in nurseries, schools, workplaces and homes. However, a full audiometric assessment is not always possible in nonclinical settings. The multicentre cohort study HörGeist investigated the effectiveness, feasibility and costs of an outreach programme of repeated hearing screening, diagnostics, intervention and monitoring of children, adolescents and adults with intellectual disabilities in their living environment in comparison with an invitation-only programme comprising a control cohort in a clinical setting and with standard care. This paper reports on the HörGeist substudy of the outreach cohort, focusing on participants referred for 'external' diagnostics in clinical settings after failing on-site screening, and evaluating both referral uptake and outcomes.</p><p><strong>Methods: </strong>Because none of the 141 individuals in the control cohort provided informed consent to attend the programme in a clinical setting, our results pertain solely to the outcomes and feasibility within the outreach cohort. All of the 1053 participants in the outreach cohort who failed the hearing screening tests underwent full on-site audiometric assessment. Where on-site screening and/or diagnostics were not feasible, referrals to external medical institutions were provided. Participants who were referred to external diagnostics were tracked via telephone interviews using a questionnaire and asked about their utilisation and the outcome of diagnostics. In cases where referrals were not pursued, reasons for non-compliance were recorded.</p><p><strong>Results: </strong>A referral for external diagnostics was received by 262 of the 1053 participants of the outreach cohort. Of these, 19 dropped out of the study. Of the 248 referrals received by the remaining 243 participants, 93 (37.5%) were attended and 155 (62.5%) were not. The main reasons for non-attendance were 'no attempt to arrange an appointment' (32.9%), 'refusal by caregivers' (23.2%) and 'refusal by participants' (18.1%). Approximately 4% did not receive an appointment for external diagnostics. Referral uptake declined with age, with uptake rates of 50.8% in young children, 41.3% in school-aged participants and 24.7% in adults. Telephone tracking of a subsample of 48 participants who primarily did not attend for external assessment led to further clinical diagnostics in eight cases (16.7%).</p><p><strong>Conclusions: </strong>In order to achieve an improvement in the hearing situation of people with intellectual disabilities, a screening, diagnostic and intervention programme in their living environment seems both feasible and beneficial. However, reliable assessment of the hearing status of the participants of such a programme re
{"title":"Clinical Diagnostics After Failed Hearing Screening in People With Intellectual Disabilities Do Not Often Take Place.","authors":"Anna Wiegand, Philipp Mathmann, Susanne Wasmuth, Lukas Prein, Ross Parfitt, Martin Scharpenberg, Vincent Jankovic, Katharina Schwarze, Anja Neumann, Karolin Schäfer, Christian Speckemeier, Sven Baessler, Sarah Schlierenkamp, Sandra Diekmann, Nicole Stuhrmann, Ruth Lang-Roth, Muhittin Demir, Werner Brannath, Awa Naghipour, Susanna Marie Zielonkowski, Anna Sophia Schwalen, Corinna Gietmann, Katrin Neumann","doi":"10.1111/jir.70078","DOIUrl":"https://doi.org/10.1111/jir.70078","url":null,"abstract":"<p><strong>Background: </strong>Individuals with intellectual disabilities are at higher risk of undiagnosed or inadequately treated hearing loss. This situation requires easily accessible hearing screening, diagnostics and intervention programmes in the living environment, i.e., in nurseries, schools, workplaces and homes. However, a full audiometric assessment is not always possible in nonclinical settings. The multicentre cohort study HörGeist investigated the effectiveness, feasibility and costs of an outreach programme of repeated hearing screening, diagnostics, intervention and monitoring of children, adolescents and adults with intellectual disabilities in their living environment in comparison with an invitation-only programme comprising a control cohort in a clinical setting and with standard care. This paper reports on the HörGeist substudy of the outreach cohort, focusing on participants referred for 'external' diagnostics in clinical settings after failing on-site screening, and evaluating both referral uptake and outcomes.</p><p><strong>Methods: </strong>Because none of the 141 individuals in the control cohort provided informed consent to attend the programme in a clinical setting, our results pertain solely to the outcomes and feasibility within the outreach cohort. All of the 1053 participants in the outreach cohort who failed the hearing screening tests underwent full on-site audiometric assessment. Where on-site screening and/or diagnostics were not feasible, referrals to external medical institutions were provided. Participants who were referred to external diagnostics were tracked via telephone interviews using a questionnaire and asked about their utilisation and the outcome of diagnostics. In cases where referrals were not pursued, reasons for non-compliance were recorded.</p><p><strong>Results: </strong>A referral for external diagnostics was received by 262 of the 1053 participants of the outreach cohort. Of these, 19 dropped out of the study. Of the 248 referrals received by the remaining 243 participants, 93 (37.5%) were attended and 155 (62.5%) were not. The main reasons for non-attendance were 'no attempt to arrange an appointment' (32.9%), 'refusal by caregivers' (23.2%) and 'refusal by participants' (18.1%). Approximately 4% did not receive an appointment for external diagnostics. Referral uptake declined with age, with uptake rates of 50.8% in young children, 41.3% in school-aged participants and 24.7% in adults. Telephone tracking of a subsample of 48 participants who primarily did not attend for external assessment led to further clinical diagnostics in eight cases (16.7%).</p><p><strong>Conclusions: </strong>In order to achieve an improvement in the hearing situation of people with intellectual disabilities, a screening, diagnostic and intervention programme in their living environment seems both feasible and beneficial. However, reliable assessment of the hearing status of the participants of such a programme re","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145989706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Naomi van den Broek, Fokke van Meulen, Marco Ross, Sebastiaan Overeem, Pedro Fonseca
Background: Obstructive sleep apnoea (OSA) is highly prevalent in people with intellectual disabilities, and when left untreated, negatively influences daily activities and social interactions. Polysomnography (PSG) remains the diagnostic gold standard but can be an obtrusive and strenuous endeavour in people with intellectual disabilities, related to factors such as communicative impairment, anxiety, challenging behaviour and sensory hypersensitivity. Alternative methods to assess OSA severity by estimating the apnoea-hypopnoea index (AHI) have been proposed, based on heart and respiration rate variability signals. These signals could potentially be obtained with less obtrusive monitoring devices. We investigated whether this approach is also suitable in people with intellectual disabilities.
Methods: We analysed overnight PSG data from 73 participants with intellectual disabilities. AHI was predicted by an algorithm trained to use cardiorespiratory inputs (from electrocardiogram and respiratory induction plethysmography) to detect the occurrence of sleep-disordered breathing events and total sleep time. It was compared to the PSG-derived AHI by means of Spearman's correlation and intraclass correlation coefficients (ICC). The diagnostic capacity of the algorithm to differentiate between OSA severity groups was evaluated using Cohen's κ coefficient of agreement and accuracy, using near-boundary double labelling, with the following boundaries: 'no OR mild OSA' 2.4 ≤ AHI < 7.0, 'mild OR moderate OSA' 12.4 ≤ AHI < 17.4 and 'moderate OR severe OSA', 26.6 ≤ AHI < 35.2.
Results: The algorithm achieved a strong Spearman's correlation between the predicted and PSG-derived AHI of 0.76 (p < 0.001) and a moderate ICC of 0.74 (p < 0.001). Differentiation in OSA severity classes was done with a κ of 0.58 and accuracy of 68.5%, indicating a moderate level of agreement.
Conclusions: We show the potential of determining the severity of OSA in people with intellectual disabilities by estimating AHI using an algorithm based on surrogate cardiorespiratory signals. This allows the development of less obtrusive diagnostic modalities focusing only on cardiorespiratory inputs to assess OSA severity.
{"title":"Heart and Respiration Rate Variability Analysis to Estimate the Apnoea-Hypopnoea Index in People With Intellectual Disabilities.","authors":"Naomi van den Broek, Fokke van Meulen, Marco Ross, Sebastiaan Overeem, Pedro Fonseca","doi":"10.1111/jir.70077","DOIUrl":"https://doi.org/10.1111/jir.70077","url":null,"abstract":"<p><strong>Background: </strong>Obstructive sleep apnoea (OSA) is highly prevalent in people with intellectual disabilities, and when left untreated, negatively influences daily activities and social interactions. Polysomnography (PSG) remains the diagnostic gold standard but can be an obtrusive and strenuous endeavour in people with intellectual disabilities, related to factors such as communicative impairment, anxiety, challenging behaviour and sensory hypersensitivity. Alternative methods to assess OSA severity by estimating the apnoea-hypopnoea index (AHI) have been proposed, based on heart and respiration rate variability signals. These signals could potentially be obtained with less obtrusive monitoring devices. We investigated whether this approach is also suitable in people with intellectual disabilities.</p><p><strong>Methods: </strong>We analysed overnight PSG data from 73 participants with intellectual disabilities. AHI was predicted by an algorithm trained to use cardiorespiratory inputs (from electrocardiogram and respiratory induction plethysmography) to detect the occurrence of sleep-disordered breathing events and total sleep time. It was compared to the PSG-derived AHI by means of Spearman's correlation and intraclass correlation coefficients (ICC). The diagnostic capacity of the algorithm to differentiate between OSA severity groups was evaluated using Cohen's κ coefficient of agreement and accuracy, using near-boundary double labelling, with the following boundaries: 'no OR mild OSA' 2.4 ≤ AHI < 7.0, 'mild OR moderate OSA' 12.4 ≤ AHI < 17.4 and 'moderate OR severe OSA', 26.6 ≤ AHI < 35.2.</p><p><strong>Results: </strong>The algorithm achieved a strong Spearman's correlation between the predicted and PSG-derived AHI of 0.76 (p < 0.001) and a moderate ICC of 0.74 (p < 0.001). Differentiation in OSA severity classes was done with a κ of 0.58 and accuracy of 68.5%, indicating a moderate level of agreement.</p><p><strong>Conclusions: </strong>We show the potential of determining the severity of OSA in people with intellectual disabilities by estimating AHI using an algorithm based on surrogate cardiorespiratory signals. This allows the development of less obtrusive diagnostic modalities focusing only on cardiorespiratory inputs to assess OSA severity.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145966247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: People with Down syndrome (DS) have a strong genetic predisposition to Alzheimer's disease (AD). However, the clinical burden and associated risk factors in diverse, non-Western populations remain less understood. This study aimed to investigate the prevalence of dementia in Japanese adults with DS and to identify modifiable clinical factors associated with dementia.
Methods: This cross-sectional multicentre study surveyed 133 adults with DS (mean age 50.1 years) residing in 45 welfare facilities across Japan in 2019. Dementia was diagnosed by a consensus panel of physicians using established criteria (DSM-5, ICD-10, DC-LD) after comprehensive assessments, including the Japanese version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID-J). Logistic regression analysis was performed to identify factors independently associated with dementia.
Results: Forty-six participants (34.6%) were diagnosed with dementia. The prevalence rose sharply with age: 0% in their 30s, 30.8% in their 40s, 31.6% in their 50s and 65.5% in their 60s. After adjusting for covariates, older age, female sex, dyslipidaemia and visual impairment were independently associated with dementia.
Conclusions: This study, the largest of its kind in Asia, confirms a high prevalence of dementia in institutionalized Japanese adults with DS. Crucially, this study is the first to identify dyslipidaemia and visual impairment as independent and potentially modifiable risk factors in this population. These findings highlight tangible targets for clinical interventions aimed at mitigating dementia risk in people with DS.
{"title":"Prevalence and Modifiable Risk Factors of Dementia in People With Down Syndrome: Cross-Sectional Study of Japan in Collaboration With the Intellectual Diversity for Goodness Research Consortium (INDIGO-2019).","authors":"Shintaro Takenoshita, Seishi Terada, Tomokazu Inoue, Taku Kurozumi, Manabu Takaki, Ryozo Kuwano, Shigeru Suemitsu","doi":"10.1111/jir.70075","DOIUrl":"https://doi.org/10.1111/jir.70075","url":null,"abstract":"<p><strong>Background: </strong>People with Down syndrome (DS) have a strong genetic predisposition to Alzheimer's disease (AD). However, the clinical burden and associated risk factors in diverse, non-Western populations remain less understood. This study aimed to investigate the prevalence of dementia in Japanese adults with DS and to identify modifiable clinical factors associated with dementia.</p><p><strong>Methods: </strong>This cross-sectional multicentre study surveyed 133 adults with DS (mean age 50.1 years) residing in 45 welfare facilities across Japan in 2019. Dementia was diagnosed by a consensus panel of physicians using established criteria (DSM-5, ICD-10, DC-LD) after comprehensive assessments, including the Japanese version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID-J). Logistic regression analysis was performed to identify factors independently associated with dementia.</p><p><strong>Results: </strong>Forty-six participants (34.6%) were diagnosed with dementia. The prevalence rose sharply with age: 0% in their 30s, 30.8% in their 40s, 31.6% in their 50s and 65.5% in their 60s. After adjusting for covariates, older age, female sex, dyslipidaemia and visual impairment were independently associated with dementia.</p><p><strong>Conclusions: </strong>This study, the largest of its kind in Asia, confirms a high prevalence of dementia in institutionalized Japanese adults with DS. Crucially, this study is the first to identify dyslipidaemia and visual impairment as independent and potentially modifiable risk factors in this population. These findings highlight tangible targets for clinical interventions aimed at mitigating dementia risk in people with DS.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145819696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frances R Vereijken, Noud Frielink, Andrew Jahoda, Petri J C M Embregts
Background: Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative. This scoping review provides an overview of existing literature to inform future research.
Method: The review was conducted in accordance with the PRISMA for Scoping Review statement. Seven databases were systematically searched in April 2022 (with a final update in May 2025). Studies that were published in English in peer-reviewed journals and examined the needs and experiences of family members collaborating with support staff in residential care settings were considered for inclusion. The Mixed Methods Appraisal Tool was used to assess risk of bias and a thematic synthesis was conducted to analyse the data.
Results: Ten articles met the inclusion criteria. Four studies focused on family members' experiences following a relative's transition from institutional or hospital settings, one study on sibling-staff collaboration, one on the roles of adult siblings, one exploring family experiences during the COVID-19 pandemic, one on parental perceptions of communication, one on family experiences postabuse inquiry and one focused on collaboration within hospital settings. The studies involved relatives with severe (n = 1), mild, severe and profound (n = 1), severe to profound (n = 1) or profound intellectual disabilities (n = 3). Four did not mention the level of intellectual disability. The synthesis yielded four analytical themes: (1) complexities in building personal relationships amidst changing contexts (n = 8), (2) navigating how to address unmet needs and the vulnerability it exposes (n = 3), (3) a desire for partnership and recognition (n = 10) and (4) a desire for staff to uphold their relative's quality of life (n = 10).
Discussion: This review highlights key areas for future research, including how family characteristics, disability severity and living arrangement can influence needs and experiences when collaborating with support staff. Additionally, further insight is needed on what impacts the dynamic nature of family-staff relationships. Lastly, understanding the views and experiences of support staff regarding family involvement is important, as it can aid the development of collaboration that is sensitive to their specific needs.
{"title":"Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home.","authors":"Frances R Vereijken, Noud Frielink, Andrew Jahoda, Petri J C M Embregts","doi":"10.1111/jir.70074","DOIUrl":"https://doi.org/10.1111/jir.70074","url":null,"abstract":"<p><strong>Background: </strong>Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative. This scoping review provides an overview of existing literature to inform future research.</p><p><strong>Method: </strong>The review was conducted in accordance with the PRISMA for Scoping Review statement. Seven databases were systematically searched in April 2022 (with a final update in May 2025). Studies that were published in English in peer-reviewed journals and examined the needs and experiences of family members collaborating with support staff in residential care settings were considered for inclusion. The Mixed Methods Appraisal Tool was used to assess risk of bias and a thematic synthesis was conducted to analyse the data.</p><p><strong>Results: </strong>Ten articles met the inclusion criteria. Four studies focused on family members' experiences following a relative's transition from institutional or hospital settings, one study on sibling-staff collaboration, one on the roles of adult siblings, one exploring family experiences during the COVID-19 pandemic, one on parental perceptions of communication, one on family experiences postabuse inquiry and one focused on collaboration within hospital settings. The studies involved relatives with severe (n = 1), mild, severe and profound (n = 1), severe to profound (n = 1) or profound intellectual disabilities (n = 3). Four did not mention the level of intellectual disability. The synthesis yielded four analytical themes: (1) complexities in building personal relationships amidst changing contexts (n = 8), (2) navigating how to address unmet needs and the vulnerability it exposes (n = 3), (3) a desire for partnership and recognition (n = 10) and (4) a desire for staff to uphold their relative's quality of life (n = 10).</p><p><strong>Discussion: </strong>This review highlights key areas for future research, including how family characteristics, disability severity and living arrangement can influence needs and experiences when collaborating with support staff. Additionally, further insight is needed on what impacts the dynamic nature of family-staff relationships. Lastly, understanding the views and experiences of support staff regarding family involvement is important, as it can aid the development of collaboration that is sensitive to their specific needs.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145804693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Danielle B Renzi, Jamie Garry, Jane Hubbard, Marianne Nordstrøm, Kathleen V Fitch, Takara L Stanley, Barbara R Pober
<p><strong>Background: </strong>Williams syndrome (WS) is a rare neurodevelopmental disorder caused by a microdeletion on chromosome 7q. Previous research indicates that adults with WS are prone to having overweight and obesity and also have decreased fat-free mass (FFM) on body composition analysis. To date, no explorations of factors associated with measured resting energy expenditure (mREE) or with the accuracy of predictive resting energy expenditure (pREE) equations have been performed. This study aimed to (1) obtain mREE in adults with WS and examine contributing factors; (2) compare mREE between adults with WS and matched controls; and (3) assess the accuracy of widely used pREE equations.</p><p><strong>Methods: </strong>A convenience sample of 41 adults with WS (mean age = 31.5 ± 10.2 years, mean body mass index [BMI] = 28.6 ± 7.7 kg/m<sup>2</sup>) completed in-person mREE assessment at a clinical research centre using indirect calorimetry. Anthropometric measurements, plus FFM and fat mass (FM) on dual energy X-ray absorptiometry (DXA), were obtained. Twenty-four of these adults with WS were matched to controls, concurrent or historical, on age, sex, race/ethnicity and BMI. Differences between the two cohorts were examined with and without adjusting for age and FFM (unadjusted analyses using independent samples t-tests and adjusted analyses using ANCOVA). pREE was computed for the WS cohort using equations derived from several distinct adult populations, including some with adults ages 60 and older, and others with a high proportion of adults with overweight or obesity. Prediction accuracy at an individual and group level was examined for each equation.</p><p><strong>Results: </strong>Within the WS cohort, mREE was significantly lower in females (1183.1 ± 186.6 kcal/day) than in males (1366.4 ± 217.8 kcal/day) and in individuals with a BMI < 30 kg/m<sup>2</sup> compared to a BMI ≥ 30 kg/m<sup>2</sup>; after adjusting for FFM, the sex-based difference in mREE persisted but with attenuated significance, while the difference between BMI categories no longer reached significance. WS participants had lower mREE than controls (males: 1310.0 ± 164.7 kcal/day vs. 1653.5 ± 406.7 kcal/day, respectively; females: 1163.1 ± 123.5 kcal/day vs. 1377.4 ± 401.5 kcal/day, respectively); after FFM adjustment, these differences were not statistically significant. Age was retained in all models even though it was not a significant predictor. Most predictive equations did not achieve ≥ 70% individual-level accuracy or a mean absolute percentage error ≤ 10%. The highest-performing predictive equation for individuals with WS was the Mifflin FFM equation, which yielded individual accuracy rates of 87.5% in males and 68.0% in females. The second top-performing equations differed by sex, with individual accuracy of 68.8% (Owen FFM) in males and 64% (Bernstein Height & Weight) in females.</p><p><strong>Conclusions: </strong>These findings indicate that (i) the amou
{"title":"Resting Energy Expenditure in Adults With Williams Syndrome: Comparative Accuracy of Predictive Equations.","authors":"Danielle B Renzi, Jamie Garry, Jane Hubbard, Marianne Nordstrøm, Kathleen V Fitch, Takara L Stanley, Barbara R Pober","doi":"10.1111/jir.70073","DOIUrl":"https://doi.org/10.1111/jir.70073","url":null,"abstract":"<p><strong>Background: </strong>Williams syndrome (WS) is a rare neurodevelopmental disorder caused by a microdeletion on chromosome 7q. Previous research indicates that adults with WS are prone to having overweight and obesity and also have decreased fat-free mass (FFM) on body composition analysis. To date, no explorations of factors associated with measured resting energy expenditure (mREE) or with the accuracy of predictive resting energy expenditure (pREE) equations have been performed. This study aimed to (1) obtain mREE in adults with WS and examine contributing factors; (2) compare mREE between adults with WS and matched controls; and (3) assess the accuracy of widely used pREE equations.</p><p><strong>Methods: </strong>A convenience sample of 41 adults with WS (mean age = 31.5 ± 10.2 years, mean body mass index [BMI] = 28.6 ± 7.7 kg/m<sup>2</sup>) completed in-person mREE assessment at a clinical research centre using indirect calorimetry. Anthropometric measurements, plus FFM and fat mass (FM) on dual energy X-ray absorptiometry (DXA), were obtained. Twenty-four of these adults with WS were matched to controls, concurrent or historical, on age, sex, race/ethnicity and BMI. Differences between the two cohorts were examined with and without adjusting for age and FFM (unadjusted analyses using independent samples t-tests and adjusted analyses using ANCOVA). pREE was computed for the WS cohort using equations derived from several distinct adult populations, including some with adults ages 60 and older, and others with a high proportion of adults with overweight or obesity. Prediction accuracy at an individual and group level was examined for each equation.</p><p><strong>Results: </strong>Within the WS cohort, mREE was significantly lower in females (1183.1 ± 186.6 kcal/day) than in males (1366.4 ± 217.8 kcal/day) and in individuals with a BMI < 30 kg/m<sup>2</sup> compared to a BMI ≥ 30 kg/m<sup>2</sup>; after adjusting for FFM, the sex-based difference in mREE persisted but with attenuated significance, while the difference between BMI categories no longer reached significance. WS participants had lower mREE than controls (males: 1310.0 ± 164.7 kcal/day vs. 1653.5 ± 406.7 kcal/day, respectively; females: 1163.1 ± 123.5 kcal/day vs. 1377.4 ± 401.5 kcal/day, respectively); after FFM adjustment, these differences were not statistically significant. Age was retained in all models even though it was not a significant predictor. Most predictive equations did not achieve ≥ 70% individual-level accuracy or a mean absolute percentage error ≤ 10%. The highest-performing predictive equation for individuals with WS was the Mifflin FFM equation, which yielded individual accuracy rates of 87.5% in males and 68.0% in females. The second top-performing equations differed by sex, with individual accuracy of 68.8% (Owen FFM) in males and 64% (Bernstein Height & Weight) in females.</p><p><strong>Conclusions: </strong>These findings indicate that (i) the amou","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145781092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: People with intellectual disabilities (ID) are known to have a higher risk for a wide range of health conditions compared to the general population. However, there is little research comparing a more comprehensive range of diseases and conditions at different ages. Therefore, the aim of this study was to explore the overall age-specific diagnostic pattern among people with ID compared to the general population.
Method: Of all people living in Skåne, the southernmost part of Sweden (n = 1 274 727), those with a diagnosis indicating ID (F70-F79 or Q90 according to ICD-10) and/or service and support for people with ID/Autism spectrum disorders (ASD) constituted the ID cohort (n = 14 716). After excluding those in the same family/household as someone in the ID cohort, the remaining people comprised the general population cohort (gPop; n = 1 226 955). The main outcome was diagnoses by body system (i.e., ICD-10 chapters) during 2014-2021. Differences between the cohorts were investigated using Poisson regression, thereby estimating relative risks for the ID cohort vs. the gPop cohort.
Results: Four different diagnostic patterns among people with ID compared to the general population were identified: (1) increased risks with an age-related decline (ICD-10 Chapters III, IV, V, VI, VII, VIII, IX, XI, XII and XIV), (2) increased risk for higher ages but overall similar risks at younger ages (Chapters I and X) and (3) similar or decreased risk across age groups (Chapters II and XIII).
Conclusions: For most body systems, there was an increased risk of diagnosis for people with ID, although in some cases, it declined with age. Although there are some potential explanations for this age-related decline, further investigations are needed to understand the pathways behind this phenomenon. Cancer diagnoses stood out in that a decreased risk was found for the ID cohort. This needs further attention. One reason may be due to lower rates of cancer screening in this group. The need for screening interventions tailored for people with ID has been highlighted for at least two decades, but few seem to have been developed, tested or implemented, which means that such interventions are still urgently warranted.
{"title":"Age-Specific Diagnostic Panorama Among People With Intellectual Disabilities in Comparison With the General Population: A Longitudinal Register Study (IDcare).","authors":"Magnus Sandberg, Jimmie Kristensson, Anna Axmon","doi":"10.1111/jir.70072","DOIUrl":"https://doi.org/10.1111/jir.70072","url":null,"abstract":"<p><strong>Background: </strong>People with intellectual disabilities (ID) are known to have a higher risk for a wide range of health conditions compared to the general population. However, there is little research comparing a more comprehensive range of diseases and conditions at different ages. Therefore, the aim of this study was to explore the overall age-specific diagnostic pattern among people with ID compared to the general population.</p><p><strong>Method: </strong>Of all people living in Skåne, the southernmost part of Sweden (n = 1 274 727), those with a diagnosis indicating ID (F70-F79 or Q90 according to ICD-10) and/or service and support for people with ID/Autism spectrum disorders (ASD) constituted the ID cohort (n = 14 716). After excluding those in the same family/household as someone in the ID cohort, the remaining people comprised the general population cohort (gPop; n = 1 226 955). The main outcome was diagnoses by body system (i.e., ICD-10 chapters) during 2014-2021. Differences between the cohorts were investigated using Poisson regression, thereby estimating relative risks for the ID cohort vs. the gPop cohort.</p><p><strong>Results: </strong>Four different diagnostic patterns among people with ID compared to the general population were identified: (1) increased risks with an age-related decline (ICD-10 Chapters III, IV, V, VI, VII, VIII, IX, XI, XII and XIV), (2) increased risk for higher ages but overall similar risks at younger ages (Chapters I and X) and (3) similar or decreased risk across age groups (Chapters II and XIII).</p><p><strong>Conclusions: </strong>For most body systems, there was an increased risk of diagnosis for people with ID, although in some cases, it declined with age. Although there are some potential explanations for this age-related decline, further investigations are needed to understand the pathways behind this phenomenon. Cancer diagnoses stood out in that a decreased risk was found for the ID cohort. This needs further attention. One reason may be due to lower rates of cancer screening in this group. The need for screening interventions tailored for people with ID has been highlighted for at least two decades, but few seem to have been developed, tested or implemented, which means that such interventions are still urgently warranted.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145774683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Autistic adults describe difficulties accessing high-quality primary care services. Primary care practitioners (PCPs) report a lack of confidence and knowledge in working with autistic adults. The Extension for Community Healthcare Outcomes (ECHO) model is a longitudinal clinician education program that utilises a 'hub and spoke' model, community-building strategies and peer case-based learning to improve the care of patients with medical complexity.
Methods: The present study utilised the ECHO model ('ECHO Autism Adult Healthcare') to train PCPs in how to best care for autistic adults. We used a qualitative approach to examine the PCPs' subjective experiences of participating in the training. We used a qualitative descriptive framework to explore the experiences of 22 PCPs who completed the ECHO Autism Adult Healthcare program. Semi-structured Zoom interviews examined the support and education needs of PCPs and the benefits and challenges of the program. Three researchers worked collaboratively to code transcripts, testing inter-rater reliability to establish reliability and coding consistency.
Results: Four themes were identified: (1) the benefits of hearing from a wide range of perspectives, (2) establishing and supporting an interactive and engaging climate, (3) building a sense of community and (4) the meaningfulness and usability of resources and information. Overall, participants appreciated the multidisciplinary hub team members' expertise, especially those with lived experiences. Several participants enjoyed the ECHO format, as it encourages active discussion and engagement. PCPs indicated that they felt connected with the hub team and participants. They remarked on the usefulness of provided resources and their ability to implement them into clinical care.
Conclusion: These results can guide the development and implementation of future training programs. The ECHO model has the potential to become a best practice for delivering medical education. Broad implementation of the ECHO model shows significant benefits for PCPs and patients with medical complexity compared to more traditional forms of CME.
{"title":"The Power of ECHO Autism: Improving Confidence and Holistic Care for Autistic Adults.","authors":"Nancy Cheak-Zamora, Jessica Smith, Mya Howard, Beth Malow, Kristin Sohl, Micah Mazurek","doi":"10.1111/jir.70069","DOIUrl":"https://doi.org/10.1111/jir.70069","url":null,"abstract":"<p><strong>Background: </strong>Autistic adults describe difficulties accessing high-quality primary care services. Primary care practitioners (PCPs) report a lack of confidence and knowledge in working with autistic adults. The Extension for Community Healthcare Outcomes (ECHO) model is a longitudinal clinician education program that utilises a 'hub and spoke' model, community-building strategies and peer case-based learning to improve the care of patients with medical complexity.</p><p><strong>Methods: </strong>The present study utilised the ECHO model ('ECHO Autism Adult Healthcare') to train PCPs in how to best care for autistic adults. We used a qualitative approach to examine the PCPs' subjective experiences of participating in the training. We used a qualitative descriptive framework to explore the experiences of 22 PCPs who completed the ECHO Autism Adult Healthcare program. Semi-structured Zoom interviews examined the support and education needs of PCPs and the benefits and challenges of the program. Three researchers worked collaboratively to code transcripts, testing inter-rater reliability to establish reliability and coding consistency.</p><p><strong>Results: </strong>Four themes were identified: (1) the benefits of hearing from a wide range of perspectives, (2) establishing and supporting an interactive and engaging climate, (3) building a sense of community and (4) the meaningfulness and usability of resources and information. Overall, participants appreciated the multidisciplinary hub team members' expertise, especially those with lived experiences. Several participants enjoyed the ECHO format, as it encourages active discussion and engagement. PCPs indicated that they felt connected with the hub team and participants. They remarked on the usefulness of provided resources and their ability to implement them into clinical care.</p><p><strong>Conclusion: </strong>These results can guide the development and implementation of future training programs. The ECHO model has the potential to become a best practice for delivering medical education. Broad implementation of the ECHO model shows significant benefits for PCPs and patients with medical complexity compared to more traditional forms of CME.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145723665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Cardiorespiratory fitness is a crucial component for health. However, measuring cardiorespiratory fitness in older adults with intellectual disabilities (ID) in practice and in large-scale studies remains challenging. The Two-Minute Step Test (2MST) is a submaximal cardiorespiratory fitness test that is brief, relatively easy to perform, and does not require any expensive materials. However, the clinimetric properties of the 2MST for older adults with ID are unknown. Therefore, this study aimed to determine the feasibility, reliability and convergent validity of the 2MST in older adults with ID.
Method: This was a cross-sectional study within the 'Healthy Ageing and Intellectual Disabilities' (HA-ID) cohort study. Participants (n = 180, 70.6 [66-75] years) that participated in the physical fitness assessment were included in this study. Feasibility was defined as a successful completion according to protocol. Test-retest reliability was assessed over two measurements, on the same day, with the intraclass correlation coefficient (ICC). Convergent validity was assessed relative to other fitness components (static balance, muscular endurance, comfortable and fast gait speed), with Pearson's and Spearman's correlation coefficients.
Results: The 2MST showed moderate feasibility for the first (49.4%) and second (48.3%) measurement. Feasibility was good in participants with borderline, mild and moderate ID (57.1%-80%), but low in participants with severe (15.2%) and profound ID (7.7%). Test-retest reliability was excellent (ICC = 0.88). The 2MST had a moderate correlation with static balance (r = 0.46) and comfortable (r = 0.42) and fast (r = 0.51) gait speed, and a good correlation with muscular endurance (r = 0.63). Based on predefined criteria, all correlations were at least moderate (r > 0.30), supporting good convergent validity (categorised as good if three or more out of four correlations were at least moderate).
Conclusions: The 2MST is a feasible, reliable and valid test to use in older adults with ID. Feasibility was especially good in older adults with borderline to moderate ID; however, it was low in adults with more severe ID. The excellent test-retest reliability and good indications for convergent validity show this test is a suitable field test for cardiorespiratory fitness to use in older adults with ID.
{"title":"Feasibility, Test-Retest Reliability and Convergent Validity of the Two-Minute Step Test in Older Adults With Intellectual Disabilities.","authors":"M M A de Bondt, T I M Hilgenkamp, A Oppewal","doi":"10.1111/jir.70070","DOIUrl":"https://doi.org/10.1111/jir.70070","url":null,"abstract":"<p><strong>Background: </strong>Cardiorespiratory fitness is a crucial component for health. However, measuring cardiorespiratory fitness in older adults with intellectual disabilities (ID) in practice and in large-scale studies remains challenging. The Two-Minute Step Test (2MST) is a submaximal cardiorespiratory fitness test that is brief, relatively easy to perform, and does not require any expensive materials. However, the clinimetric properties of the 2MST for older adults with ID are unknown. Therefore, this study aimed to determine the feasibility, reliability and convergent validity of the 2MST in older adults with ID.</p><p><strong>Method: </strong>This was a cross-sectional study within the 'Healthy Ageing and Intellectual Disabilities' (HA-ID) cohort study. Participants (n = 180, 70.6 [66-75] years) that participated in the physical fitness assessment were included in this study. Feasibility was defined as a successful completion according to protocol. Test-retest reliability was assessed over two measurements, on the same day, with the intraclass correlation coefficient (ICC). Convergent validity was assessed relative to other fitness components (static balance, muscular endurance, comfortable and fast gait speed), with Pearson's and Spearman's correlation coefficients.</p><p><strong>Results: </strong>The 2MST showed moderate feasibility for the first (49.4%) and second (48.3%) measurement. Feasibility was good in participants with borderline, mild and moderate ID (57.1%-80%), but low in participants with severe (15.2%) and profound ID (7.7%). Test-retest reliability was excellent (ICC = 0.88). The 2MST had a moderate correlation with static balance (r = 0.46) and comfortable (r = 0.42) and fast (r = 0.51) gait speed, and a good correlation with muscular endurance (r = 0.63). Based on predefined criteria, all correlations were at least moderate (r > 0.30), supporting good convergent validity (categorised as good if three or more out of four correlations were at least moderate).</p><p><strong>Conclusions: </strong>The 2MST is a feasible, reliable and valid test to use in older adults with ID. Feasibility was especially good in older adults with borderline to moderate ID; however, it was low in adults with more severe ID. The excellent test-retest reliability and good indications for convergent validity show this test is a suitable field test for cardiorespiratory fitness to use in older adults with ID.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145701186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Breanne Byiers, Alyssa Merbler, Elijah Lockhart, Chantel Burkitt, Frank Symons
Purpose: Actigraphy is being increasingly used to assess sleep and circadian rhythms among populations with intellectual and developmental disabilities and genetic syndromes, including Rett syndrome and related disorders, but the reliability of these measures in these populations is unclear. The primary purpose of the current study was to evaluate the impact of recording duration on the reliability of various measures of sleep and circadian rhythm in Rett and related syndromes.
Method: Two 14-day recordings were collected between 4 and 12 weeks apart in a sample of 30 individuals (aged 2-36 years; 97% female). Reliability was estimated by calculating statistics based on 3, 5, 7, 10 or 13-14 nights of recording.
Results: Most measures of average sleep quality could be reliably estimated with 7-10 nights. Measures of night-to-night variability in sleep timing showed poor reliability at all recording durations, whereas night-to-night variability in sleep duration showed adequate reliability at 5-7 days of recording. The reliability of measures of circadian rhythm was highly variable.
Conclusions: The results suggest that the optimal recording durations for actigraphy in this population vary based on the specific metrics of interest, but most can be measured reliably.
{"title":"Reliability of Actigraphy for the Assessment of Sleep and Circadian Rhythms in Rett and Related Syndromes.","authors":"Breanne Byiers, Alyssa Merbler, Elijah Lockhart, Chantel Burkitt, Frank Symons","doi":"10.1111/jir.70068","DOIUrl":"https://doi.org/10.1111/jir.70068","url":null,"abstract":"<p><strong>Purpose: </strong>Actigraphy is being increasingly used to assess sleep and circadian rhythms among populations with intellectual and developmental disabilities and genetic syndromes, including Rett syndrome and related disorders, but the reliability of these measures in these populations is unclear. The primary purpose of the current study was to evaluate the impact of recording duration on the reliability of various measures of sleep and circadian rhythm in Rett and related syndromes.</p><p><strong>Method: </strong>Two 14-day recordings were collected between 4 and 12 weeks apart in a sample of 30 individuals (aged 2-36 years; 97% female). Reliability was estimated by calculating statistics based on 3, 5, 7, 10 or 13-14 nights of recording.</p><p><strong>Results: </strong>Most measures of average sleep quality could be reliably estimated with 7-10 nights. Measures of night-to-night variability in sleep timing showed poor reliability at all recording durations, whereas night-to-night variability in sleep duration showed adequate reliability at 5-7 days of recording. The reliability of measures of circadian rhythm was highly variable.</p><p><strong>Conclusions: </strong>The results suggest that the optimal recording durations for actigraphy in this population vary based on the specific metrics of interest, but most can be measured reliably.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145668733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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