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1.
BMJ Open ; 11(3): e048756, 2021 Mar 26.
Artículo en Inglés | MEDLINE | ID: mdl-33771833

RESUMEN

INTRODUCTION: Youth with brain-based disabilities (BBDs), as well as their parents/caregivers, often feel ill-prepared for the transfer from paediatric to adult healthcare services. To address this pressing issue, we developed the MyREADY TransitionTM BBD App, a patient-facing e-health intervention. The primary aim of this randomised controlled trial (RCT) was to determine whether the App will result in greater transition readiness compared with usual care for youth with BBD. Secondary aims included exploring the contextual experiences of youth using the App, as well as the interactive processes of youth, their parents/caregivers and healthcare providers around use of the intervention. METHODS AND ANALYSIS: We aimed to randomise 264 youth with BBD between 15 and 17 years of age, to receive existing services/usual care (control group) or to receive usual care along with the App (intervention group). Our recruitment strategy includes remote and virtual options in response to the current requirements for physical distancing due to the COVID-19 pandemic. We will use an embedded experimental model design which involves embedding a qualitative study within a RCT. The Transition Readiness Assessment Questionnaire will be administered as the primary outcome measure. Analysis of covariance will be used to compare change in the two groups on the primary outcome measure; analysis will be intention-to-treat. Interviews will be conducted with subsets of youth in the intervention group, as well as parents/caregivers and healthcare providers. ETHICS AND DISSEMINATION: The study has been approved by the research ethics board of each participating site in four different regions in Canada. We will leverage our patient and family partnerships to find novel dissemination strategies. Study findings will be shared with the academic and stakeholder community, including dissemination of teaching and training tools through patient associations, and patient and family advocacy groups. TRIAL REGISTRATION NUMBER: NCT03852550.


Asunto(s)
Prestación de Atención de Salud , Discapacidad Intelectual , Telemedicina , Transición a la Atención de Adultos , Adolescente , Adulto , Canadá , Humanos , Aplicaciones Móviles , Ensayos Clínicos Controlados Aleatorios como Asunto
2.
Zhongguo Dang Dai Er Ke Za Zhi ; 23(3): 306-309, 2021 Mar.
Artículo en Chino | MEDLINE | ID: mdl-33691927

RESUMEN

This is a case report on a 1-day-old male neonate admitted due to a weak cry for 1 day and recurrent circumoral cyanosis for 2 hours. He had unusual facial features at birth, with a single transverse palmar crease on both hands, flat feet, weak cry, feeding difficulties, congenital heart disease, and abnormality on cerebral MRI. Whole exome sequencing showed a de novo mutation, c.778_781delAAAG(p.Lys260ValfsTer2), in exon 3 of the CTCF gene, which was considered a pathogenic mutation by protein function prediction and might damage the function of CTCF protein. He was diagnosed with autosomal dominant intellectual disability type 21 based on the clinical manifestations and genetic analysis results. This case suggests that genetic analysis should be performed as early as possible for neonates with feeding difficulties which cannot be explained by infection or hypoxia, so as to help with early diagnosis and genetic counselling.


Asunto(s)
Discapacidad Intelectual , Exones , Pruebas Genéticas , Humanos , Recién Nacido , Discapacidad Intelectual/genética , Masculino , Mutación , Secuenciación del Exoma Completo
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(3): 228-231, 2021 Mar 10.
Artículo en Chino | MEDLINE | ID: mdl-33751530

RESUMEN

OBJECTIVE: To assess the value of copy number variations (CNVs) and chromosomal karyotyping analysis for patients with intellectual disability/developmental delay (ID/DD). METHODS: Chromosomal karyotype analysis was applied to 530 children diagnosed with ID/DD. Single nucleotide polymorphism array (SNP-array) was further applied for 120 children with unknown etiology. RESULTS: Among the 530 children with ID/DD, 104 (19.62%) were detected with chromosomal abnormalities. For the 120 children analyzed by SNP-array, 44 (36.67%) were detected with CNVs, among which 20 were predicted as pathogenic, 6 as likely pathogenic, 10 as variants of unknown significance, 7 as likely benign,and 1 as loss of heterozygosity. CONCLUSION: SNP-array can facilitate delineation of the etiology of patients with ID/DD, which may provide a basis for their prognosis, consultation and clinical intervention.


Asunto(s)
Variaciones en el Número de Copia de ADN , Discapacidades del Desarrollo , Discapacidad Intelectual , Niño , Aberraciones Cromosómicas , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/genética , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Cariotipificación
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(3): 260-263, 2021 Mar 10.
Artículo en Chino | MEDLINE | ID: mdl-33751537

RESUMEN

OBJECTIVE: To explore the genetic basis for a child with mental and motor retardation, language impairment, facial dysmorphism and epilepsy. METHODS: Whole exome sequencing was carried out to detect pathogenic variant in the proband, and candidate variant was selected based on his phenotype. Sanger sequencing was used to verify the variant in the proband, his parents and other family members. RESULTS: The proband was found to carry a frameshifting mutation of MBD5 gene, namely c.2217delT (p.F739Lfs*6), which was inherited from his mother and unreported previously. Sanger sequencing confirmed that his brother carried the same mutation with a similar phenotype. His mother also had poor language expression when she was young, in addition with poor academic performance, though she could do some housework and had no history of convulsion. CONCLUSION: A novel pathogenic variant of the MBD5 gene was discovered, which has enriched the mutational spectrum of the MBD5 gene. Above discovery has enabled genetic counseling and prenatal diagnosis for the family.


Asunto(s)
Proteínas de Unión al ADN , Discapacidad Intelectual , Niño , Proteínas de Unión al ADN/genética , Femenino , Humanos , Discapacidad Intelectual/genética , Masculino , Mutación , Linaje , Fenotipo , Embarazo , Secuenciación del Exoma Completo
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(3): 275-277, 2021 Mar 10.
Artículo en Chino | MEDLINE | ID: mdl-33751541

RESUMEN

OBJECTIVE: To explore the genetic basis for a child affected with Bainbridge-Ropers syndrome. METHODS: Genomic DNA was extracted from peripheral venous blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out to detect genetic variant of the proband. Candidate variant was verified by Sanger sequencing. RESULTS: The 3-year-old boy presented with psychomotor retardation, linguistic difficulties, mental retardation and peculiar craniofacial phenotype. A de novo heterozygous nonsense variant of the ASXL3 gene, c.3106C>T, was identified by WES in the proband, and the same mutation was not found among his parents. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.3106C>T variant was predicted to be pathogenic (PVS1+PS2+PP4). CONCLUSION: The heterozygous variant c.3106C>T of the ASXL3 gene probably underlies the Bainbridge-Ropers syndrome in the patient. Above result has enabled the clinical diagnosis and genetic counseling for the family.


Asunto(s)
Discapacidad Intelectual , Factores de Transcripción , Niño , Preescolar , Heterocigoto , Humanos , Discapacidad Intelectual/genética , Masculino , Mutación , Fenotipo , Factores de Transcripción/genética , Secuenciación del Exoma Completo
6.
Ned Tijdschr Geneeskd ; 1652021 03 02.
Artículo en Holandés | MEDLINE | ID: mdl-33651511

RESUMEN

Since the end of January 2020, covid-19 is a group A infectious disease according to the Public Health Act (in Dutch: Wet publiekegezondheid or Wpg). To avert the risk of infection with covid-19, coercive measures can be imposed under this law. Almost at the same time, since January 1 2020, two new Dutch laws regulate the mandatory care for people with intellectual disability and dementia (the Care and Compulsion Act (in Dutch: Wet zorgendwang or Wzd) and for people with a mental disorder (the Mandatory Mental Health Care Act (in Dutch: Wet verplichte GGZ or Wvggz). Just like the Wpg, the Wzd and Wvggz allow coercion for the benefit of third parties. In this clinical lesson we describe the use of the Wpg, Wzd and Wvggz in order to avert covid-19 infection risk.


Asunto(s)
/prevención & control , Coerción , Discapacidad Intelectual/terapia , Trastornos Mentales/terapia , Salud Pública/legislación & jurisprudencia , Humanos , Países Bajos
8.
Psicothema (Oviedo) ; 33(1): 28-35, feb. 2021.
Artículo en Inglés | IBECS | ID: ibc-ET5-2639

RESUMEN

BACKGROUND: A new paradigm, which we refer to as The Quality of Life Supports Paradigm, is emerging internationally in the field of intellectual and developmental disabilities. The new paradigm integrates the key concepts of 'quality of life' and 'supports'. This article addresses the question of how one evaluates a new paradigm. METHOD: This is a conceptual work that describes five characteristics of a paradigm. The characteristics are based on the groundbreaking work of relevant authors in the field of intellectual and developmental disabilities, quality of life, supports, and evaluation. RESULTS: The five characteristics are that a paradigm is theory driven, ethical, flexible, adaptable, and measurable. The article especially delves into the fifth characteristic and provides specific examples of how to evaluate the new paradigm. CONCLUSIONS: The new paradigm encompasses core values, accommodates contextual factors, and can be used for multiple purposes to positively impact the development and implementation of value-based policies and practices that enhance the quality of life and personal well-being of people with intellectual and developmental disabilities


ANTECEDENTES: en el ámbito internacional de las discapacidades intelectuales y del desarrollo está surgiendo un nuevo paradigma, el Paradigma de Calidad de Vida-Apoyos, que integra los conceptos clave "calidad de vida" y "apoyos". Este artículo aborda la cuestión de cómo se evalúa un nuevo paradigma como este. MÉTODO: este es un trabajo conceptual que describe cinco características de un paradigma. Estas características están basadas en el trabajo innovador de autores relevante en el ámbito de las discapacidades intelectuales y del desarrollo, la calidad de vida, los apoyos y la evaluación. RESULTADOS: las cinco características de un paradigma son que este es impulsado por la teoría, ético, flexible, adaptable y medible. En el artículo se profundiza especialmente en la quinta característica y se proporcionan ejemplos específicos sobre cómo evaluar el nuevo paradigma. CONCLUSIONES: el nuevo paradigma abarca valores fundamentales, incorpora factores contextuales y se puede utilizar para múltiples propósitos para favorecer el desarrollo y la implementación de políticas y prácticas basadas en valores que mejoran la calidad de vida y el bienestar personal de las personas con discapacidades intelectuales y del desarrollo


Asunto(s)
Humanos , Discapacidad Intelectual , Discapacidades del Desarrollo , Autonomía Personal , Calidad de Vida/psicología , Teoría Psicológica , Calidad de Vida , Personas con Discapacidad Mental/psicología , Adaptación Psicológica , Apoyo Social
9.
Am J Physiol Heart Circ Physiol ; 320(2): H891-H900, 2021 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-33566748

RESUMEN

People with intellectual disability (ID) experience cardiometabolic-related morbidity and mortality. However, it has been suggested that this population presents and lives with underestimated cardiovascular risk factors at a younger age, hence affecting their overall health and quality of life and contributing to early mortality. We assessed autonomic nervous system function in subjects with ID (n = 39), aged 18-45 yr, through measures of sudomotor function, heart rate and systolic blood pressure variability, and cardiac baroreflex function. Traditional clinical cardiovascular measurements and a biochemical analysis were also undertaken. We found that young adults with ID presented with sudomotor dysfunction, impaired cardiac baroreflex sensitivity, and systolic blood pressure variability, when compared with age-matched control subjects (n = 38). Reduced hand and feet electrochemical skin conductance and asymmetry were significantly associated with having a moderate-profound ID. Autonomic dysfunction in individuals with ID persisted after controlling for age, sex, and other metabolic parameters. Subjects in the ID group also showed significantly increased blood pressure, body mass index, and waist/hip circumference ratio, as well as increased plasma hemoglobin A1c and high-sensitivity C-reactive protein levels. We conclude that autonomic dysfunction is present in young adults with ID and is more marked in those with more severe disability. These finding have important implications in developing preventative strategies to reduce the risk of cardiovascular disease in people with ID.NEW & NOTEWORTHY Adults with intellectual disability experience higher risk of premature death than the general population. Our investigation highlights increased cardiovascular risk markers and autonomic dysfunction in young adults with intellectual disability compared with control adults. Autonomic dysfunction was more marked in those with a more severe disability but independent of cardiovascular parameters. Assessment of autonomic nervous system (ANS) function may provide insight into the mechanisms of cardiometabolic disease development and progression in young adults with intellectual disability.


Asunto(s)
Enfermedades del Sistema Nervioso Autónomo/etiología , Sistema Nervioso Autónomo/fisiopatología , Enfermedades Cardiovasculares/etiología , Sistema Cardiovascular/inervación , Discapacidad Intelectual/complicaciones , Glándulas Sudoríparas/inervación , Adolescente , Adulto , Factores de Edad , Enfermedades del Sistema Nervioso Autónomo/diagnóstico , Enfermedades del Sistema Nervioso Autónomo/fisiopatología , Barorreflejo , Presión Sanguínea , Enfermedades Cardiovasculares/diagnóstico , Enfermedades Cardiovasculares/fisiopatología , Estudios de Casos y Controles , Estudios Transversales , Femenino , Frecuencia Cardíaca , Humanos , Discapacidad Intelectual/diagnóstico , Masculino , Persona de Mediana Edad , Medición de Riesgo , Índice de Severidad de la Enfermedad , Sudoración , Adulto Joven
10.
Intellect Dev Disabil ; 59(1): 1-6, 2021 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-33543272

RESUMEN

The last three issues of Intellectual and Developmental Disabilities (IDD) have featured perspectives from a diverse set of contributors on how the field of intellectual and developmental disabilities (IDD) is being impacted by COVID-19. As four newly appointed faculty members with diverse backgrounds, the editor of IDD invited us to share our experiences with beginning academic careers during this unique time. In making this request, he pointed out that approximately half the members of the American Association on Intellectual and Developmental Disabilities (AAIDD) are those who have some type of affiliation with an institution of higher education. While the perspectives outlined in this article do not represent those of all early career faculty, we hope our stories resonate with IDD readers who may be facing similar circumstances. This article includes a series of brief essays addressing how the pandemic has affected our academic job searches, research, teaching, and service. Although penned by different authors, each section encompasses our collective experiences, concerns, and hopes for the broader IDD community. We close with guiding questions that might support more socially responsive and integrated approaches to traditional academic roles as faculty continue to navigate the repercussions of COVID-19.


Asunto(s)
/epidemiología , Discapacidad Intelectual , Movilidad Laboral , Docentes Médicos/estadística & datos numéricos , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/terapia , Enseñanza
11.
Epidemiol Psychiatr Sci ; 30: e14, 2021 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-33583471

RESUMEN

AIMS: Although the relationship between attention-deficit/hyperactivity disorder (ADHD) and transport accidents has been shown, there is limited information on the relationship between medication and dose-response effects and transport accident risk. This study aims to determine whether young people with ADHD, including adolescents, are more prone to transport accidents than those without, and the extent to which methylphenidate (MPH) prescription in these patients reduces the risk. METHODS: We identified 114 486 patients diagnosed with ADHD from Taiwan's National Health Insurance Research Database from 1997 to 2013. Using a Cox regression model, we compared the risk of transport accidents between ADHD and non-ADHD groups and estimated the effect of MPH on accidents. Furthermore, we applied a self-control case-series analysis to compare the risk of accidents during the medication periods with the same patients' non-medication periods. RESULTS: Male ADHD patients had a higher risk of transport accidents than non-ADHD individuals (adjusted hazard ratio [aHR] = 1.24, [95% confidence interval (CI) 1.10-1.39]), especially for those comorbid with epilepsy, oppositional defiant disorder/conduct disorder (ODD/CD), and intellectual disabilities (ID). Female ADHD patients showed no relationship, except for comorbid with autism spectrum disorder (ASD) or ID. We found a reduced risk of transport accidents in patients with ADHD with MPH medication than those without MPH, with a plausible dose-response relationship (aHR of 0.23 to 0.07). A similar pattern was found in self-controlled case-series analysis. CONCLUSIONS: Male patients with ADHD, especially those comorbid with epilepsy, ODD/CD, or ID, were at high risk of transport accidents. Female patients, when comorbid with ASD or ID, also exhibited a higher risk of accidents. MPH treatment lowered the accident risk with a dose-response relationship.


Asunto(s)
Accidentes de Tránsito/estadística & datos numéricos , Trastorno por Déficit de Atención con Hiperactividad/tratamiento farmacológico , Estimulantes del Sistema Nervioso Central/efectos adversos , Metilfenidato/efectos adversos , Vigilancia de la Población/métodos , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/psicología , Déficit de la Atención y Trastornos de Conducta Disruptiva/epidemiología , Estudios de Casos y Controles , Estimulantes del Sistema Nervioso Central/uso terapéutico , Estudios de Cohortes , Comorbilidad , Trastorno de la Conducta/epidemiología , Femenino , Humanos , Discapacidad Intelectual/epidemiología , Masculino , Metilfenidato/uso terapéutico , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Factores Sexuales
12.
Am J Epidemiol ; 190(2): 265-276, 2021 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-33524118

RESUMEN

Polyunsaturated fatty acids (PUFAs) are critical for brain development and have been linked with neurodevelopmental outcomes. We conducted a population-based case-control study in California to examine the association between PUFAs measured in midpregnancy serum samples and autism spectrum disorder (ASD) in offspring. ASD cases (n = 499) were identified through the California Department of Developmental Services and matched to live-birth population controls (n = 502) on birth month, year (2010 or 2011), and sex. Logistic regression models were used to examine crude and adjusted associations. In secondary analyses, we examined ASD with and without co-occurring intellectual disability (ID; n = 67 and n = 432, respectively) and effect modification by sex and ethnicity. No clear patterns emerged, though there was a modest inverse association with the top quartile of linoleic acid level (highest quartile vs. lowest: adjusted odds ratio = 0.74, 95% confidence interval: 0.49, 1.11; P for trend = 0.10). Lower levels of total and ω-3 PUFAs were associated with ASD with ID (lowest decile of total PUFAs vs. deciles 4-7: adjusted odds ratio = 2.78, 95% confidence interval: 1.13, 6.82) but not ASD without ID. We did not observe evidence of effect modification by the factors examined. These findings do not suggest a strong association between midpregnancy PUFA levels and ASD. In further work, researchers should consider associations with ASD with ID and in other time windows.


Asunto(s)
Trastorno del Espectro Autista/epidemiología , Ácidos Grasos Insaturados/sangre , Discapacidad Intelectual/epidemiología , Segundo Trimestre del Embarazo/sangre , Trastorno del Espectro Autista/etnología , Peso al Nacer , California/epidemiología , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Edad Gestacional , Humanos , Discapacidad Intelectual/etnología , Masculino , Oportunidad Relativa , Embarazo , Factores Sexuales , Factores Socioeconómicos
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(2): 131-133, 2021 Feb 10.
Artículo en Chino | MEDLINE | ID: mdl-33565064

RESUMEN

OBJECTIVE: To explore the genetic basis for a patient with intellectual disability. METHODS: Whole exome sequencing and Sanger sequencing were carried out for the patient. The result was verified in her family. RESULTS: DNA sequencing revealed that the patient has carried a heterozygous nonsense c.40C>T (p.Arg14X) variant of the TRIP12 gene, which was de novo in origin. The variant was unrecorded in the Human Gene Mutation Database. Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+ PS2+ PP3). CONCLUSION: The patient was diagnosed with autosomal dominant intellectual disability due to heterozygous c.40C>T variant of the TRIP12 gene.


Asunto(s)
Proteínas Portadoras/genética , Discapacidad Intelectual , Ubiquitina-Proteína Ligasas/genética , Codón sin Sentido , Femenino , Heterocigoto , Humanos , Discapacidad Intelectual/genética , Secuenciación del Exoma Completo
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(2): 138-140, 2021 Feb 10.
Artículo en Chino | MEDLINE | ID: mdl-33565066

RESUMEN

OBJECTIVE: To explore the genetic basis for a child with unexplained global developmental delay (GDD), seizure, and facial deformity. METHODS: Whole exome sequencing (WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of the patient and his parents. RESULTS: WES revealed that the patient has carried a previously unreported de novo heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene, Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.4906C>T variant of KMT2A gene was predicted to be pathogenic (PVS1+ PS2+ PM2+PP3). CONCLUSION: The heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene probably underlay the disease in the child. Above finding has enriched the spectrum of pathogenic variants of the KMT2A gene.


Asunto(s)
Anomalías Múltiples/genética , N-Metiltransferasa de Histona-Lisina/genética , Discapacidad Intelectual/genética , Proteína de la Leucemia Mieloide-Linfoide/genética , Niño , Humanos , Masculino , Síndrome
15.
BMC Psychol ; 9(1): 28, 2021 Feb 12.
Artículo en Inglés | MEDLINE | ID: mdl-33579383

RESUMEN

BACKGROUND: People with an intellectual disability experience higher rates of mental health problems, but experience significant barriers to receiving professional help. Increasing the knowledge and skills of those who support them can help to reduce some of these barriers. This study aimed to develop guidelines for offering mental health first aid to a person with an intellectual disability. METHODS: Using the Delphi research method, a systematic search of websites, books and journal articles was conducted to develop a survey containing items about the knowledge, skills and actions needed for assisting a person with an intellectual disability who is experiencing mental health problems. These items were rated over three survey rounds by an expert panel according to whether they should be included in the guidelines. RESULTS: Fifty-three experts completed all three survey rounds (67% retention rate). A total of 202 items were rated over the three rounds to yield 170 endorsed items that were incorporated into the guidelines. The developed guidelines emphasise the need to recognise the unique signs of mental health problems in people with an intellectual disability, and provide appropriate support, communication and respect for people with an intellectual disability. The guidelines will also build the capacity of carers to address behaviours of concern, socially limiting behaviours or seeking professional help when the need arises. The guidelines will be used to develop a mental health first aid course. CONCLUSION: The guidelines and the resultant mental health first aid course will be a helpful resource with the potential to address some of the barriers to mental health help-seeking that people with an intellectual disability experience.


Asunto(s)
Primeros Auxilios , Discapacidad Intelectual , Consenso , Técnica Delfos , Humanos , Salud Mental , Encuestas y Cuestionarios
16.
Res Dev Disabil ; 111: 103889, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33578230

RESUMEN

BACKGROUND: During COVID-19 measures face-to-face contact is limited and professional carers have to find other ways to support people with intellectual disabilities. COVID-19 measures can increase stress in people with intellectual disabilities, although some people may adapt to or grow from these uncertain situations. Resilience is the process of effectively negotiating, adapting to, or managing significant sources of stress and trauma. The current study aims to provide professional carers with new insights into how they can support people with intellectual disabilities. METHOD: An online survey was shared through the social media and organizational newsletters of MEE ZHN (a non-governmental organization for people with disabilities). The resilience framework by Ungar (2019) was adapted to fit to people with intellectual disabilities during COVID-19 measures. Statistical analyses were performed in SPSS statistics version 26. RESULTS: Results show that professional carers applied diverse and distal methods to maintain contact with people with intellectual disabilities during the COVID-19 measures. Professional carers reported a significant decrease in the quality of contact with clients with intellectual disabilities, but overall high levels of resilience in the same clients. IMPLICATIONS: Online methods of communication are possibly insufficient for professionals to cover all needs of people with intellectual disabilities. During this pandemic professionals should be aware of stress but also of resilience in people with intellectual disabilities.


Asunto(s)
Cuidadores , Personas con Discapacidad , Discapacidad Intelectual , Sistemas de Apoyo Psicosocial , Resiliencia Psicológica , Actitud del Personal de Salud , /prevención & control , Cuidadores/psicología , Cuidadores/estadística & datos numéricos , Personas con Discapacidad/psicología , Personas con Discapacidad/rehabilitación , Femenino , Humanos , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/psicología , Discapacidad Intelectual/rehabilitación , Masculino , Países Bajos/epidemiología , Relaciones Profesional-Paciente , Calidad de la Atención de Salud , Encuestas y Cuestionarios
17.
Am J Hum Genet ; 108(3): 502-516, 2021 03 04.
Artículo en Inglés | MEDLINE | ID: mdl-33596411

RESUMEN

Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. SPEN encodes a transcriptional repressor commonly deleted in proximal del1p36 syndrome and is located centromeric to the proximal 1p36 critical region. Here, we used clinical data from 34 individuals with truncating variants in SPEN to define a neurodevelopmental disorder presenting with features that overlap considerably with those of proximal del1p36 syndrome. The clinical profile of this disease includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females. SPEN also emerges as a relevant gene for del1p36 syndrome by co-expression analyses. Finally, we show that haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females, providing further evidence of a specific contribution of the protein to the epigenetic control of this chromosome, and a paradigm of an X chromosome-specific episignature that classifies syndromic traits. We conclude that SPEN is required for multiple developmental processes and SPEN haploinsufficiency is a major contributor to a disorder associated with deletions centromeric to the previously established 1p36 critical regions.


Asunto(s)
Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 1/genética , Cromosomas Humanos X/genética , Proteínas de Unión al ADN/genética , Proteínas de Unión al ARN/genética , Adolescente , Trastorno del Espectro Autista/genética , Trastorno del Espectro Autista/patología , Niño , Preescolar , Deleción Cromosómica , Trastornos de los Cromosomas/fisiopatología , Metilación de ADN/genética , Epigénesis Genética/genética , Femenino , Haploinsuficiencia/genética , Humanos , Discapacidad Intelectual/genética , Discapacidad Intelectual/fisiopatología , Masculino , Trastornos del Neurodesarrollo/genética , Trastornos del Neurodesarrollo/fisiopatología , Fenotipo , Adulto Joven
18.
Int J Mol Sci ; 22(2)2021 Jan 08.
Artículo en Inglés | MEDLINE | ID: mdl-33435571

RESUMEN

Epileptic encephalopathies (EE) are severe epilepsy syndromes characterized by multiple seizure types, developmental delay and even regression. This class of disorders are increasingly being identified as resulting from de novo genetic mutations including many identified mutations in the family of chromodomain helicase DNA binding (CHD) proteins. In particular, several de novo pathogenic mutations have been identified in the gene encoding chromodomain helicase DNA binding protein 2 (CHD2), a member of the sucrose nonfermenting (SNF-2) protein family of epigenetic regulators. These mutations in the CHD2 gene are causative of early onset epileptic encephalopathy, abnormal brain function, and intellectual disability. Our understanding of the mechanisms by which modification or loss of CHD2 cause this condition remains poorly understood. Here, we review what is known and still to be elucidated as regards the structure and function of CHD2 and how its dysregulation leads to a highly variable range of phenotypic presentations.


Asunto(s)
Proteínas de Unión al ADN/genética , Epilepsia Generalizada/genética , Predisposición Genética a la Enfermedad/genética , Discapacidad Intelectual/genética , Mutación , Animales , Modelos Animales de Enfermedad , Electroencefalografía , Epilepsia Generalizada/patología , Epilepsia Generalizada/fisiopatología , Regulación de la Expresión Génica , Humanos , Discapacidad Intelectual/fisiopatología
19.
J Rehabil Med ; 53(2): jrm00152, 2021 Feb 10.
Artículo en Inglés | MEDLINE | ID: mdl-33469670

RESUMEN

OBJECTIVE: To determine bone quality in adults with severe motor and intellectual disabilities. DESIGN: A retrospective cohort study. PATIENTS: Bone quality of 60 patients with severe motor and intellectual disabilities (28 men, 32 women; mean age 57 years) at a long-term care facility for adults was examined retrospectively. METHODS: Quantitative ultrasonography was used to measure the stiffness index, T-score and Z-score of the calcaneus. A multiple linear regression model, including sex, age, anti-epileptic drug use, tube-feeding status, and current and peak physical abil-ities, was used to identify significant predictors of T-scores. RESULTS: Quantitative ultrasonography revealed that all patients had lower bone quality (based on T-scores, Z-scores, and stiffness index), and all patients had T-scores with standard deviations (SD) below 1.8. Current physical ability, age, and anti-epileptic drug use were significant factors in T-score determination, while tube-feeding and peak physical ability were not. The ability to walk without assistance was the most significant predictor in quantitative ultrasonography. CONCLUSION: Severely low bone quality is observed in patients with severe motor and intellectual disabilities; and it is strongly associated with current physical activity. It is important that patients with severe motor and intellectual disabilities preserve their physical abilities to prevent osteoporosis-related fractures.


Asunto(s)
Densidad Ósea/fisiología , Discapacidad Intelectual/fisiopatología , Adulto , Anciano , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto Joven
20.
Res Dev Disabil ; 110: 103856, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33497856

RESUMEN

During the COVID-19 pandemic, the Oasi Research Institute of Troina (Italy) became an important hotbed for infection; in fact, 109 patients with different levels of Intellectual Disability (ID) tested positive for COVID-19. The procedures and interventions put in place at the Oasi Research Institute due to the COVID-19 pandemic are exhaustively reported in this paper. The description of the clinical procedures as well as remote/in person psychological support services provided to people with ID and their families are here divided into three different sections: Phase I (or Acute phase), Phase II (or Activity planning), and Phase III (or Activity consolidation). In each section, the main psycho-pathological characteristics of patients, the reactions of family members and the multidisciplinary interventions put in place are also described.


Asunto(s)
/epidemiología , Discapacidades del Desarrollo/rehabilitación , Discapacidad Intelectual/rehabilitación , Sistemas de Apoyo Psicosocial , Telemedicina , Academias e Institutos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/psicología , Trastorno del Espectro Autista/rehabilitación , /fisiopatología , Niño , Preescolar , Comorbilidad , Discapacidades del Desarrollo/epidemiología , Discapacidades del Desarrollo/psicología , Brotes de Enfermedades , Epilepsia/epidemiología , Femenino , Hospitales Especializados , Humanos , Hipotiroidismo/epidemiología , Lactante , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/psicología , Italia , Masculino , Persona de Mediana Edad , Trastornos del Humor/epidemiología , Trastornos del Humor/psicología , Trastornos del Humor/rehabilitación , Obesidad/epidemiología , Sobrepeso/epidemiología , Trastornos de la Personalidad/epidemiología , Trastornos de la Personalidad/psicología , Trastornos de la Personalidad/rehabilitación , Trastornos Psicóticos/epidemiología , Trastornos Psicóticos/psicología , Trastornos Psicóticos/rehabilitación , Índice de Severidad de la Enfermedad , Adulto Joven
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