N. Massó-Ortigosa, F. Rey-Abella, L. Gutiérrez-Vilahú, R. Milà, M. Guerra-Balic, G. R. Oviedo
Background
Individuals with intellectual disabilities (IDs) often present deficiencies in motor, balance and postural control. On the other hand, the practice of physical activity and dance usually reduces these deficiencies. Therefore, in this study, we aimed to compare the control of the centre of pressure (COP) in people with Down syndrome (DS) or other causes of ID in relation to people without disabilities and to observe the influence of vision and the practice of dance.
Methods
This cross-sectional study analyses the COP in a static standing position with open and closed eyes in four study groups. A total of 273 people were recruited (80 adults without ID, 46 adults with DS, 120 adults with other causes of ID and 27 dancers with DS).
Results
A greater area of oscillation and path of the COP was observed in the participants with ID compared with the participants without ID, especially in the sway area of the COP. The oscillation speed of the COP was also higher. When analysing the displacement of the COP, anteroposterior and mediolateral components, there were also differences, except when comparing the group of dancers with DS with respect to the group without ID. The visual condition only influenced the group of participants without disabilities.
Conclusions
The results of our study show that there is a less efficient static postural control in people with ID, as greater displacements were observed in the COP of the participants with ID. The differences in some specific variables that analyse the displacement of the COP were smaller when comparing the group of dancers with DS and the individuals without ID.
{"title":"Analysis of the centre of pressure in bipedal stance among individuals with and without intellectual disabilities, individuals with Down syndrome and dancers with Down syndrome","authors":"N. Massó-Ortigosa, F. Rey-Abella, L. Gutiérrez-Vilahú, R. Milà, M. Guerra-Balic, G. R. Oviedo","doi":"10.1111/jir.13127","DOIUrl":"10.1111/jir.13127","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Individuals with intellectual disabilities (IDs) often present deficiencies in motor, balance and postural control. On the other hand, the practice of physical activity and dance usually reduces these deficiencies. Therefore, in this study, we aimed to compare the control of the centre of pressure (COP) in people with Down syndrome (DS) or other causes of ID in relation to people without disabilities and to observe the influence of vision and the practice of dance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional study analyses the COP in a static standing position with open and closed eyes in four study groups. A total of 273 people were recruited (80 adults without ID, 46 adults with DS, 120 adults with other causes of ID and 27 dancers with DS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A greater area of oscillation and path of the COP was observed in the participants with ID compared with the participants without ID, especially in the sway area of the COP. The oscillation speed of the COP was also higher. When analysing the displacement of the COP, anteroposterior and mediolateral components, there were also differences, except when comparing the group of dancers with DS with respect to the group without ID. The visual condition only influenced the group of participants without disabilities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The results of our study show that there is a less efficient static postural control in people with ID, as greater displacements were observed in the COP of the participants with ID. The differences in some specific variables that analyse the displacement of the COP were smaller when comparing the group of dancers with DS and the individuals without ID.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"68 5","pages":"524-536"},"PeriodicalIF":3.6,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13127","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139729738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
V. Estruch-García, M. D. Gil-Llario, O. Fernández-García
Background
This study addresses the sexuality of people with moderate intellectual disabilities (PMID), a topic that has been little studied. Understanding romantic and sexual experiences is highly relevant for reducing stigma and prejudice related to their sexuality. Additionally, comprehending the level of sexual knowledge of PMID contributes to the development of preventive and sexual health education programmes tailored for this group. Our aim is to explore the sexual history (relationships, sexual behaviour, condom use and sexual abuse), sex education received and the level of sexual knowledge of PMID.
Method
The total of 142 PMID completed questionnaires about sexual knowledge and experiences, and their support staff provided additional information. Data were analysed using chi-square test (χ2) and descriptive statistical analysis.
Results
Masturbation was the most common sexual behaviour (75.7%), especially among men (χ2 = 5.81, P < 0.05). Sexual intercourse was rare, and only 30.5% reported using condoms. Women reported a higher prevalence of self-reported sexual abuse (27.3% vs. 6% in men). The study also highlighted misconceptions about sexual intercourse risks and contraceptive methods.
Conclusion
The results suggest that PMID need sexual education to ensure healthy sexual experiences and prevent risky behaviour.
{"title":"Sexual experiences and knowledge of people with moderate intellectual disability","authors":"V. Estruch-García, M. D. Gil-Llario, O. Fernández-García","doi":"10.1111/jir.13125","DOIUrl":"10.1111/jir.13125","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This study addresses the sexuality of people with moderate intellectual disabilities (PMID), a topic that has been little studied. Understanding romantic and sexual experiences is highly relevant for reducing stigma and prejudice related to their sexuality. Additionally, comprehending the level of sexual knowledge of PMID contributes to the development of preventive and sexual health education programmes tailored for this group. Our aim is to explore the sexual history (relationships, sexual behaviour, condom use and sexual abuse), sex education received and the level of sexual knowledge of PMID.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>The total of 142 PMID completed questionnaires about sexual knowledge and experiences, and their support staff provided additional information. Data were analysed using chi-square test (<i>χ</i><sup>2</sup>) and descriptive statistical analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Masturbation was the most common sexual behaviour (75.7%), especially among men (<i>χ</i><sup>2</sup> = 5.81, <i>P</i> < 0.05). Sexual intercourse was rare, and only 30.5% reported using condoms. Women reported a higher prevalence of self-reported sexual abuse (27.3% vs. 6% in men). The study also highlighted misconceptions about sexual intercourse risks and contraceptive methods.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The results suggest that PMID need sexual education to ensure healthy sexual experiences and prevent risky behaviour.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"68 5","pages":"512-523"},"PeriodicalIF":3.6,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13125","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139665900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
T. Q. Nguyen, C. I. Kerley, A. P. Key, A. C. Maxwell-Horn, Q. S. Wells, J. L. Neul, L. E. Cutting, B. A. Landman
<div> <section> <h3> Background</h3> <p>Individuals with Down syndrome (DS) have a heightened risk for various co-occurring health conditions, including congenital heart disease (CHD). In this two-part study, electronic medical records (EMRs) were leveraged to examine co-occurring health conditions among individuals with DS (Study 1) and to investigate health conditions linked to surgical intervention among DS cases with CHD (Study 2).</p> </section> <section> <h3> Methods</h3> <p>De-identified EMRs were acquired from Vanderbilt University Medical Center and facilitated creating a cohort of <i>N</i> = 2282 DS cases (55% females), along with comparison groups for each study. In Study 1, DS cases were one-by-two sex and age matched with samples of case–controls and of individuals with <i>other</i> intellectual and developmental difficulties (IDDs). The phenome-disease association study (PheDAS) strategy was employed to reveal co-occurring health conditions in DS versus comparison groups, which were then ranked for how often they are discussed in relation to DS using the PubMed database and <i>Novelty Finding Index</i>. In Study 2, a subset of DS individuals with CHD [<i>N</i> = 1098 (48%)] were identified to create longitudinal data for <i>N</i> = 204 cases with surgical intervention (19%) versus 204 case–controls. Data were included in predictive models and assessed which model-based health conditions, when more prevalent, would increase the likelihood of surgical intervention.</p> </section> <section> <h3> Results</h3> <p>In Study 1, relative to case–controls and those with <i>other</i> IDDs, co-occurring health conditions among individuals with DS were confirmed to include heart failure, pulmonary heart disease, atrioventricular block, heart transplant/surgery and primary pulmonary hypertension (circulatory); hypothyroidism (endocrine/metabolic); and speech and language disorder and Alzheimer's disease (neurological/mental). Findings also revealed more versus less prevalent co-occurring health conditions in individuals with DS when comparing with those with <i>other</i> IDDs. Findings with high <i>Novelty Finding Index</i> were abnormal electrocardiogram, non-rheumatic aortic valve disorders and heart failure (circulatory); acid–base balance disorder (endocrine/metabolism); and abnormal blood chemistry (symptoms). In Study 2, the predictive models revealed that among individuals with DS and CHD, presence of health conditions such as congestive heart failure (circulatory), valvular heart disease and cardiac shunt (congenital), and pleural effusion and pulmonary collapse (respiratory) were associated with increased likelihood of surgical intervention.</p> </section> <section>
{"title":"Phenotyping Down syndrome: discovery and predictive modelling with electronic medical records","authors":"T. Q. Nguyen, C. I. Kerley, A. P. Key, A. C. Maxwell-Horn, Q. S. Wells, J. L. Neul, L. E. Cutting, B. A. Landman","doi":"10.1111/jir.13124","DOIUrl":"10.1111/jir.13124","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Individuals with Down syndrome (DS) have a heightened risk for various co-occurring health conditions, including congenital heart disease (CHD). In this two-part study, electronic medical records (EMRs) were leveraged to examine co-occurring health conditions among individuals with DS (Study 1) and to investigate health conditions linked to surgical intervention among DS cases with CHD (Study 2).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>De-identified EMRs were acquired from Vanderbilt University Medical Center and facilitated creating a cohort of <i>N</i> = 2282 DS cases (55% females), along with comparison groups for each study. In Study 1, DS cases were one-by-two sex and age matched with samples of case–controls and of individuals with <i>other</i> intellectual and developmental difficulties (IDDs). The phenome-disease association study (PheDAS) strategy was employed to reveal co-occurring health conditions in DS versus comparison groups, which were then ranked for how often they are discussed in relation to DS using the PubMed database and <i>Novelty Finding Index</i>. In Study 2, a subset of DS individuals with CHD [<i>N</i> = 1098 (48%)] were identified to create longitudinal data for <i>N</i> = 204 cases with surgical intervention (19%) versus 204 case–controls. Data were included in predictive models and assessed which model-based health conditions, when more prevalent, would increase the likelihood of surgical intervention.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In Study 1, relative to case–controls and those with <i>other</i> IDDs, co-occurring health conditions among individuals with DS were confirmed to include heart failure, pulmonary heart disease, atrioventricular block, heart transplant/surgery and primary pulmonary hypertension (circulatory); hypothyroidism (endocrine/metabolic); and speech and language disorder and Alzheimer's disease (neurological/mental). Findings also revealed more versus less prevalent co-occurring health conditions in individuals with DS when comparing with those with <i>other</i> IDDs. Findings with high <i>Novelty Finding Index</i> were abnormal electrocardiogram, non-rheumatic aortic valve disorders and heart failure (circulatory); acid–base balance disorder (endocrine/metabolism); and abnormal blood chemistry (symptoms). In Study 2, the predictive models revealed that among individuals with DS and CHD, presence of health conditions such as congestive heart failure (circulatory), valvular heart disease and cardiac shunt (congenital), and pleural effusion and pulmonary collapse (respiratory) were associated with increased likelihood of surgical intervention.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 ","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"68 5","pages":"491-511"},"PeriodicalIF":3.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139665840","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}
S. Zamorano, A. B. Santos-Olmo, I. Sánchez-Iglesias, I. Muñoz-Lara, M. Muñoz
Background
Stigma towards people with intellectual disability affects various aspects of their lives, including access to employment, housing, health and social care services. Furthermore, this stigma reduces their social opportunities and is even reflected in laws that diminish their autonomy. Due to the practical significance of this issue, the aim of this research is to explore for the first time the social stigma associated with intellectual disability in a representative sample of the Spanish population.
Method
A cross-sectional quantitative descriptive study was conducted, involving a representative sample of the population (N = 2746). The study includes descriptive analyses and hierarchical regressions to examine various dimensions of stigma, such as attitudes, attributions, and intentions of social distance.
Results
Medium levels of stigma are found regarding attitudes and attributions towards people with intellectual disability, while levels are medium-low concerning the intention of social distance. The most reliable indicators of stigma across its various dimensions encompass attitudes, attributions, and the intention of social distance. Factors that contribute to lower stigma include knowing someone with an intellectual disability, being willing to discuss intellectual disability with an acquaintance who has it and having a progressive political ideology. People with intellectual disability show more negative attributions towards themselves. Living with a person with an intellectual disability is another predictor of more stigmatising attitudes, but less intention of social distance. Results are mixed regarding age, gender, and educational level.
Conclusion
Combating the stigmatisation of people with intellectual disabilities must include comprehensive actions to address attitudes, attributions and behavioural intentions. Public policies, such as national campaigns and programmes, should include contact with and open conversations about intellectual disability, and sensitivity to sociodemographic variables.
{"title":"The stigma of intellectual disability in Spain: a nationally representative survey","authors":"S. Zamorano, A. B. Santos-Olmo, I. Sánchez-Iglesias, I. Muñoz-Lara, M. Muñoz","doi":"10.1111/jir.13122","DOIUrl":"10.1111/jir.13122","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Stigma towards people with intellectual disability affects various aspects of their lives, including access to employment, housing, health and social care services. Furthermore, this stigma reduces their social opportunities and is even reflected in laws that diminish their autonomy. Due to the practical significance of this issue, the aim of this research is to explore for the first time the social stigma associated with intellectual disability in a representative sample of the Spanish population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>A cross-sectional quantitative descriptive study was conducted, involving a representative sample of the population (<i>N</i> = 2746). The study includes descriptive analyses and hierarchical regressions to examine various dimensions of stigma, such as attitudes, attributions, and intentions of social distance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Medium levels of stigma are found regarding attitudes and attributions towards people with intellectual disability, while levels are medium-low concerning the intention of social distance. The most reliable indicators of stigma across its various dimensions encompass attitudes, attributions, and the intention of social distance. Factors that contribute to lower stigma include knowing someone with an intellectual disability, being willing to discuss intellectual disability with an acquaintance who has it and having a progressive political ideology. People with intellectual disability show more negative attributions towards themselves. Living with a person with an intellectual disability is another predictor of more stigmatising attitudes, but less intention of social distance. Results are mixed regarding age, gender, and educational level.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Combating the stigmatisation of people with intellectual disabilities must include comprehensive actions to address attitudes, attributions and behavioural intentions. Public policies, such as national campaigns and programmes, should include contact with and open conversations about intellectual disability, and sensitivity to sociodemographic variables.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"68 5","pages":"477-490"},"PeriodicalIF":3.6,"publicationDate":"2024-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13122","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139542534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C. Moser, A. Campanelli, L. Friedman, A. J. Thurman, J. E. Roberts, L. Abbeduto, J. Klusek
Background
The characterisation of autism in fragile X syndrome (FXS) has been a source of controversy due to the complexity of disentangling autism traits from common features of the FXS phenotype. Autism in FXS is significantly underdiagnosed in the community, which may be partly due to insufficient clinical description of the social interaction profile of autism within the FXS phenotype. In this study, we applied a classic framework for characterising social interaction styles in autism to a sample of young adult males with FXS and co-occurring autism to enhance understanding of how the social challenges associated with autism manifest within FXS.
Methods
Participants were 41 males (M age = 18 years) with FXS and co-occurring autism. Interaction samples were coded for expression of predominately ‘active’ (characterised by a desire to make social approaches) or ‘passive’ (characterised by lack of initiation of social approach towards others) interaction profiles. Differences in the expression of phenotypic features of FXS, including anxiety, attention-deficit/hyperactivity disorder, cognitive, adaptive and language impairments and autism symptom severity, were examined across those with passive and active interaction styles.
Results
Approximately half of the sample was classified as active and half as passive, demonstrating diversity in the social phenotype of autism associated with FXS. The two subtypes did not differ in autism severity, anxiety or attention-deficit/hyperactivity disorder symptoms or in cognitive, adaptive or language abilities.
Conclusions
This study enhances understanding of FXS-associated autism by documenting phenotypic variability in the social interaction profile in this group, with active and passive social interaction styles represented. The two social interaction styles were not associated with differential expression of common phenotypic features of FXS, suggesting similar support needs.
{"title":"Characterising the social interaction style of autism in young adult males with fragile X syndrome","authors":"C. Moser, A. Campanelli, L. Friedman, A. J. Thurman, J. E. Roberts, L. Abbeduto, J. Klusek","doi":"10.1111/jir.13121","DOIUrl":"10.1111/jir.13121","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The characterisation of autism in fragile X syndrome (FXS) has been a source of controversy due to the complexity of disentangling autism traits from common features of the FXS phenotype. Autism in FXS is significantly underdiagnosed in the community, which may be partly due to insufficient clinical description of the social interaction profile of autism within the FXS phenotype. In this study, we applied a classic framework for characterising social interaction styles in autism to a sample of young adult males with FXS and co-occurring autism to enhance understanding of how the social challenges associated with autism manifest within FXS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Participants were 41 males (<i>M</i> age = 18 years) with FXS and co-occurring autism. Interaction samples were coded for expression of predominately ‘active’ (characterised by a desire to make social approaches) or ‘passive’ (characterised by lack of initiation of social approach towards others) interaction profiles. Differences in the expression of phenotypic features of FXS, including anxiety, attention-deficit/hyperactivity disorder, cognitive, adaptive and language impairments and autism symptom severity, were examined across those with passive and active interaction styles.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Approximately half of the sample was classified as active and half as passive, demonstrating diversity in the social phenotype of autism associated with FXS. The two subtypes did not differ in autism severity, anxiety or attention-deficit/hyperactivity disorder symptoms or in cognitive, adaptive or language abilities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study enhances understanding of FXS-associated autism by documenting phenotypic variability in the social interaction profile in this group, with active and passive social interaction styles represented. The two social interaction styles were not associated with differential expression of common phenotypic features of FXS, suggesting similar support needs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"68 5","pages":"464-476"},"PeriodicalIF":3.6,"publicationDate":"2024-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13121","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139520019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
P. J. González-Domenech, M. Gurpegui, C. M. González-Domenech, S. Gómez-González, A. Rustarazo, V. Ruiz-Nieto, M. D. Carretero, L. Gutiérrez-Rojas
Background
Prader–Willi syndrome (PWS), a genetically determined disorder, the most frequent cause of early onset obesity, is associated with physical and cognitive dysfunctions and behavioural disturbances; these disturbances are frequently treated with psychotropic medication. The aim of this cross-sectional study was to describe the characteristics of the first large national sample of persons with PWS in Spain and analyse the relationships of those characteristics with key demographic and clinical factors, particularly with obesity and the regular use of psychotropic medication.
Methods
Participants were recruited among all members of the Spanish Prader–Willi Association who agreed to take part in the study and fulfilled its inclusion criteria. Family and patient demographic features, family size and birth order, intelligence quotient (IQ), anthropometric measures, lifestyle habits, behavioural disturbances (with the Aberrant Behavior Checklist) and clinical data, as well as use of psychotropic drugs and their side effects (with the UKU scale), were collected in genetically confirmed cases of PWS. Bivariate and logistic regression analyses were used for determining the associations of demographic and clinical factors with both obesity and the regular use of psychotropic medication.
Results
The cohort included 177 participants (aged 6–48 years), that is, 90 (50.8%) males and 87 (49.2%) females. Behavioural disturbances were present in a range of 75% to 93% of participants; psychotropic medication was prescribed to 81 (45.8%) of them. Number of siblings showed a direct correlation with IQ, especially among males, and inappropriate speech was more intense in only-child females. Obesity was, in parallel, strongly associated with ascending age and with not being currently under growth hormone (GH) treatment. Participants taking any psychotropic medication were characterised by more frequent age ≥30 years, high level of hyperactivity and a psychiatric diagnosis.
Conclusions
Characterisation of persons with PWS in Spain confirms their physical and behavioural phenotype and supports the long-term application of GH therapy and the rational use of psychotropic medication.
{"title":"Prader–Willi syndrome in a large sample from Spain: general features, obesity and regular use of psychotropic medication","authors":"P. J. González-Domenech, M. Gurpegui, C. M. González-Domenech, S. Gómez-González, A. Rustarazo, V. Ruiz-Nieto, M. D. Carretero, L. Gutiérrez-Rojas","doi":"10.1111/jir.13123","DOIUrl":"10.1111/jir.13123","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Prader–Willi syndrome (PWS), a genetically determined disorder, the most frequent cause of early onset obesity, is associated with physical and cognitive dysfunctions and behavioural disturbances; these disturbances are frequently treated with psychotropic medication. The aim of this cross-sectional study was to describe the characteristics of the first large national sample of persons with PWS in Spain and analyse the relationships of those characteristics with key demographic and clinical factors, particularly with obesity and the regular use of psychotropic medication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Participants were recruited among all members of the Spanish Prader–Willi Association who agreed to take part in the study and fulfilled its inclusion criteria. Family and patient demographic features, family size and birth order, intelligence quotient (IQ), anthropometric measures, lifestyle habits, behavioural disturbances (with the Aberrant Behavior Checklist) and clinical data, as well as use of psychotropic drugs and their side effects (with the UKU scale), were collected in genetically confirmed cases of PWS. Bivariate and logistic regression analyses were used for determining the associations of demographic and clinical factors with both obesity and the regular use of psychotropic medication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The cohort included 177 participants (aged 6–48 years), that is, 90 (50.8%) males and 87 (49.2%) females. Behavioural disturbances were present in a range of 75% to 93% of participants; psychotropic medication was prescribed to 81 (45.8%) of them. Number of siblings showed a direct correlation with IQ, especially among males, and inappropriate speech was more intense in only-child females. Obesity was, in parallel, strongly associated with ascending age and with not being currently under growth hormone (GH) treatment. Participants taking any psychotropic medication were characterised by more frequent age ≥30 years, high level of hyperactivity and a psychiatric diagnosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Characterisation of persons with PWS in Spain confirms their physical and behavioural phenotype and supports the long-term application of GH therapy and the rational use of psychotropic medication.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"68 5","pages":"446-463"},"PeriodicalIF":3.6,"publicationDate":"2024-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139512731","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}
Takahashi, H., An, M., Sasai, T., Seki, M., Matsumura, T., Ogawa, Y., Matsushima, K., Tabata, A., and Kato, T. (2023) The effectiveness of dance movement therapy for individuals with Down syndrome: a pilot randomised controlled trial. Journal of Intellectual Disability Research, 67: 640–654.
In the first paragraph of “Adult Behavior Checklist and Child Behavior Checklist”, 21 participants are incorrect. It should be 20 participants.
The data on the vertical and horizontal axes of control group are misaligned in Table 2. The correct table is as follow:
We apologize for this error.
Takahashi, H., An, M., Sasai, T., Seki, M., Matsumura, T., Ogawa, Y., Matsushima, K., Tabata, A., and Kato, T. (2023) The effectiveness of dance movement therapy for individuals with Down Syndrome: a pilot randomised controlled trial.Journal of Intellectual Disability Research, 67: 640-654.在 "成人行为检查表和儿童行为检查表 "的第一段中，21 名参与者是不正确的，应该是 20 名参与者。表 2 中对照组纵轴和横轴的数据错位。正确的表格如下：我们对此错误深表歉意。
{"title":"Correction to “The effectiveness of dance movement therapy for individuals with Down syndrome: a pilot randomised controlled trial”","authors":"","doi":"10.1111/jir.13112","DOIUrl":"10.1111/jir.13112","url":null,"abstract":"<p>\u0000 <span>Takahashi, H.</span>, <span>An, M.</span>, <span>Sasai, T.</span>, <span>Seki, M.</span>, <span>Matsumura, T.</span>, <span>Ogawa, Y.</span>, <span>Matsushima, K.</span>, <span>Tabata, A.</span>, and <span>Kato, T.</span> (<span>2023</span>) <span>The effectiveness of dance movement therapy for individuals with Down syndrome: a pilot randomised controlled trial</span>. <i>Journal of Intellectual Disability Research</i>, <span>67</span>: <span>640</span>–<span>654</span>.</p><p>In the first paragraph of “Adult Behavior Checklist and Child Behavior Checklist”, 21 participants are incorrect. It should be 20 participants.</p><p>The data on the vertical and horizontal axes of control group are misaligned in Table 2. The correct table is as follow:</p><p>We apologize for this error.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"68 4","pages":"385"},"PeriodicalIF":3.6,"publicationDate":"2024-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13112","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139491353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Prevalence of intellectual disability (ID) is currently estimated through parent report on surveys of children. It is difficult to estimate the number of adults living with ID in the United States because no comprehensive survey or surveillance allows for identification. The purpose of this study was to estimate the prevalence and number of adults with ID born between 1980 and 1999 using multiple years of the National Health Interview Survey (NHIS) and Census data.
Methods
We concatenated the NHIS from 1997–2016 that evaluated parental response about whether a child aged 3–17 years had an ID. Using weighted survey analyses, we estimated the prevalence of ID among individuals across four birth cohorts—(1) 1980–1984, (2) 1985–1989, (3) 1990–1994, and (4) 1995–1999. The number of adults with ID was then extrapolated by applying these prevalence rates to Census population estimates (as of 1 July 2021) of respective birth cohorts.
Results
Weighted prevalence of ID varied by birth cohort, sex, race and ethnicity, and US Census Bureau regions. The overall prevalence rate was 1.066 [95% confidence interval (CI): 0.831–1.302] for adults born between 1980 and 1984, 0.772 (CI: 0.654–0.891) for adults born between 1985 and 1989, 0.774 (0.675–0.874) for adults born between 1990 and 1994, and 1.069 (CI: 0.898–1.240) for adults born between 1995 and 1999. Overall, we estimate that 818 564 adults with ID who were approximately 21–41 years were living in the United States as of 2021.
Conclusions
This study provides researchers examining adult health outcomes with an estimated denominator of young and middle-aged adults living with ID in the United States. Policymakers can use this information to support justification for resource and service needs, and clinicians may benefit from understanding that ID is a lifelong developmental condition often with additional physical, emotional and developmental needs requiring tailored care.
{"title":"Prevalence of intellectual disability among adults born in the 1980s and 1990s in the United States","authors":"T. W. Benevides, B. Datta, J. Jaremski, M. McKee","doi":"10.1111/jir.13119","DOIUrl":"10.1111/jir.13119","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Prevalence of intellectual disability (ID) is currently estimated through parent report on surveys of children. It is difficult to estimate the number of adults living with ID in the United States because no comprehensive survey or surveillance allows for identification. The purpose of this study was to estimate the prevalence and number of adults with ID born between 1980 and 1999 using multiple years of the National Health Interview Survey (NHIS) and Census data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We concatenated the NHIS from 1997–2016 that evaluated parental response about whether a child aged 3–17 years had an ID. Using weighted survey analyses, we estimated the prevalence of ID among individuals across four birth cohorts—(1) 1980–1984, (2) 1985–1989, (3) 1990–1994, and (4) 1995–1999. The number of adults with ID was then extrapolated by applying these prevalence rates to Census population estimates (as of 1 July 2021) of respective birth cohorts.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Weighted prevalence of ID varied by birth cohort, sex, race and ethnicity, and US Census Bureau regions. The overall prevalence rate was 1.066 [95% confidence interval (CI): 0.831–1.302] for adults born between 1980 and 1984, 0.772 (CI: 0.654–0.891) for adults born between 1985 and 1989, 0.774 (0.675–0.874) for adults born between 1990 and 1994, and 1.069 (CI: 0.898–1.240) for adults born between 1995 and 1999. Overall, we estimate that 818 564 adults with ID who were approximately 21–41 years were living in the United States as of 2021.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study provides researchers examining adult health outcomes with an estimated denominator of young and middle-aged adults living with ID in the United States. Policymakers can use this information to support justification for resource and service needs, and clinicians may benefit from understanding that ID is a lifelong developmental condition often with additional physical, emotional and developmental needs requiring tailored care.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"68 4","pages":"377-384"},"PeriodicalIF":3.6,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13119","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139485759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
L. K. White, N. Hillman, K. Ruparel, T. M. Moore, R. S. Gallagher, E. J. McClellan, D. R. Roalf, J. C. Scott, M. E. Calkins, D. E. McGinn, V. Giunta, O. Tran, T. B. Crowley, E. H. Zackai, B. S. Emanuel, D. M. McDonald-McGinn, R. E. Gur, R. C. Gur
Background
Neurocognitive functioning is an integral phenotype of 22q11.2 deletion syndrome relating to severity of psychopathology and outcomes. A neurocognitive battery that could be administered remotely to assess multiple cognitive domains would be especially beneficial to research on rare genetic variants, where in-person assessment can be unavailable or burdensome. The current study compares in-person and remote assessments of the Penn computerised neurocognitive battery (CNB).
Methods
Participants (mean age = 17.82, SD = 6.94 years; 48% female) completed the CNB either in-person at a laboratory (n = 222) or remotely (n = 162).
Results
Results show that accuracy of CNB performance was equivalent across the two testing locations, while slight differences in speed were detected in 3 of the 11 tasks.
Conclusions
These findings suggest that the CNB can be used in remote settings to assess multiple neurocognitive domains.
{"title":"Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome","authors":"L. K. White, N. Hillman, K. Ruparel, T. M. Moore, R. S. Gallagher, E. J. McClellan, D. R. Roalf, J. C. Scott, M. E. Calkins, D. E. McGinn, V. Giunta, O. Tran, T. B. Crowley, E. H. Zackai, B. S. Emanuel, D. M. McDonald-McGinn, R. E. Gur, R. C. Gur","doi":"10.1111/jir.13115","DOIUrl":"10.1111/jir.13115","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neurocognitive functioning is an integral phenotype of 22q11.2 deletion syndrome relating to severity of psychopathology and outcomes. A neurocognitive battery that could be administered remotely to assess multiple cognitive domains would be especially beneficial to research on rare genetic variants, where in-person assessment can be unavailable or burdensome. The current study compares in-person and remote assessments of the Penn computerised neurocognitive battery (CNB).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Participants (mean age = 17.82, SD = 6.94 years; 48% female) completed the CNB either in-person at a laboratory (<i>n</i> = 222) or remotely (<i>n</i> = 162).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Results show that accuracy of CNB performance was equivalent across the two testing locations, while slight differences in speed were detected in 3 of the 11 tasks.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These findings suggest that the CNB can be used in remote settings to assess multiple neurocognitive domains.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"68 4","pages":"369-376"},"PeriodicalIF":3.6,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139478140","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}
The Scale of Emotional Development – Short (SED-S) captures the level of emotional development in persons with a disorder of intellectual development (DID) with 200 items on five developmental levels. The study aims to develop a brief version of the SED-S.
Methods
Based on item analysis (proportions, χ2-test, Spearman's ρ and corrected item–total correlation), a brief version of the SED-S was developed in a sample of 224 adults with a DID (n1) and validated in a second independent matched sample (n2 = 223).
Results
Item reliability ranged per item set from Cronbach's α = 0.835 to 0.924. Weighted kappa resulted in κω = 0.743 (P < 0.001, 95% confidence interval = 0.690–0.802). Overall agreement of the brief version with the original SED-S was PO = 0.7. The brief version of the SED-S showed weaknesses in distinguishing level 2 from the adjacent levels.
Conclusions
The brief version of the SED-S showed good reliability and moderate to good validity results. Items of phase 2 and, to some degree, of phase 5 should be revised to further improve the psychometric properties of the scale.
{"title":"A brief version of the Scale of Emotional Development – Short","authors":"T. Sappok, B. Barrett, S. Lutter","doi":"10.1111/jir.13117","DOIUrl":"10.1111/jir.13117","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The <i>Scale of Emotional Development – Short</i> (<i>SED-S</i>) captures the level of emotional development in persons with a disorder of intellectual development (DID) with 200 items on five developmental levels. The study aims to develop a brief version of the SED-S.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Based on item analysis (proportions, <i>χ</i><sup>2</sup>-test, Spearman's <i>ρ</i> and corrected item–total correlation), a brief version of the SED-S was developed in a sample of 224 adults with a DID (<i>n</i><sub>1</sub>) and validated in a second independent matched sample (<i>n</i><sub>2</sub> = 223).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Item reliability ranged per item set from Cronbach's <i>α</i> = 0.835 to 0.924. Weighted kappa resulted in <i>κ</i><sub><i>ω</i></sub> = 0.743 (<i>P</i> < 0.001, 95% confidence interval = 0.690–0.802). Overall agreement of the brief version with the original SED-S was <i>P</i><sub><i>O</i></sub> = 0.7. The brief version of the SED-S showed weaknesses in distinguishing level 2 from the adjacent levels.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The brief version of the SED-S showed good reliability and moderate to good validity results. Items of phase 2 and, to some degree, of phase 5 should be revised to further improve the psychometric properties of the scale.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"68 4","pages":"340-357"},"PeriodicalIF":3.6,"publicationDate":"2024-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13117","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139111008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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