Seguridad, inclusión y tecnología: una solución tecnológica para situaciones de emergencia / Safety, inclusion and technology: a technological solution for emergency situations

Security and access to prevention-related information and training should be rights guaranteed for all. This is not the case, however, for most people with intellectual disabilities (ID), who may face numerous difficulties when dealing with emergency situations. The SIT (Safety, Inclusion and Technology) project is focused on designing and developing a technological solution for identifying individuals with ID in emergencies, attending to them, and providing preventive training to improve their self-determination and quality of life. To do so, we have used Design-Based Research (DBR) owing to its characteristic cyclical refinement of designed products. This research method has enabled us to validate the contents of the final versions of the SOSDI Application and SIT project website. In this paper we describe the flow of operation, provide a detailed definition of the components of both products, and discuss accessibility features we have taken into account to ensure cognitive accessibility. (AU)

La seguridad, así como el acceso a la información y formación relativa a la prevención es un derecho que todas las personas deben tener garantizado. Este no es el caso de la mayoría de las personas con discapacidad intelectual (DI), quienes pueden presentar numerosas dificultades para desenvolverse en situaciones de emergencia. El proyecto SIT (Seguridad, Inclusión y Tecnología)se centra en el diseño y desarrollo de una solución tecnológica que permita la identificación, atención y formación preventiva de personas con DI en situaciones de emergencia con el fin de mejorar así su autodeterminación y calidad de vida. Para ello hemos utilizado la metodología de la Investigación Basada en el Diseño (DBR) como método de investigación por su característica cíclica de refinamiento de los productos diseñados. Esto nos ha permitido validar el contenido de la aplicación SOSDI y la web del proyecto SIT en sus versiones teóricas finales. En este artículo podrán encontrar el flujo de uso, la definición detallada de cada una de las partes de los productos, así como los aspectos de accesibilidad que se han tenido en cuenta para garantizar la accesibilidad cognitiva. (AU)

Programa de higiene postural en talleres para personas con discapacidad intelectual / Postural Hygiene Program in Workshops for People with Intellectual Disabilities

En este trabajo se presenta una propuesta de intervención para personas con discapacidad intelectual que trabajan en talleres de carpintería y encuadernación de un centro ocupacional, cuya finalidad es la prevención de las lesiones y/o alteraciones musculoesqueléticas que se puedan originar a partir de la carga y rutina laboral de los usuarios. Para esto, se diseñó un programa de carácter anual, cuyo eje principal es la aplicación de rutinas de gimnasia laboral, basado en las características y necesidades de los usuarios con discapacidad intelectual. El programa consta de seis fases que son: recopilación de antecedentes, formación y presentación de las actividades, desarrollo de las sesiones, evaluación del proceso, evaluaciones semestral y final, y, por último, finalización del programa. Una de las características principales de la propuesta es su factibilidad, ya que no requiere que se lleven a cabo mayores adaptaciones o que se realicen más inversiones de las que ya existen. (AU)

This paper presents an intervention proposal for people with intellectual disabilities who work in carpentry and bookbinding workshops in an occupational centre, aiming at the prevention of injuries and/or musculoskeletal disorders that may originate from the participants' workload and work routine. For this, an annual program was designed, the main point of which is the application of workplace exercise routines, based on the features and needs of people with intellectual disabilities. The program consists of six phases, which are: gathering of background information, training and introduction of the activities, performance of the sessions, assessment of the process, biannual and final assessments, and, finally, completion of the program. One of the main features of the proposal is its feasibility, since it does not require major adaptations or further investments than those that already exist. (AU)

[Social, cognitive and psychomotor development in peruvian children with congenital hypothyroidism]. / Desarrollo social, cognitivo y psicomotor en niños peruanos con hipotiroidismo congénito.

INTRODUCTION: Congenital hypothyroidism (CH) is the most common cause of preventable intellectual disability in the pediatric population. Early diagnosis and treatment during the first month of life are essential to avoid delaying the neuropsychological development of these patients. OBJECTIVE: to describe the social, cognitive, and psychomotor development of children with CH treated at the National Institute of Child Health (INSN) in Lima, Peru. PATIENTS AND METHOD: Retrospective analysis of 26 CH pa tients seen during 2012-2017 at INSN were reviewed. The aspects of neuropsychological development studied were: cognitive development (IQ), social development (social category), and psychomotor development (gait, speech, and chest control). The IQ was classified according to the result of the Weschler IV scale. An analysis was carried out with the Fisher-Freeman-Halton test to verify if there was a difference in the frequency of the variables according to the age of diagnosis and beginning of treatment. RESULTS: Most of the patients presented a borderline IQ (38.5%), the most frequent social category was educable (88.7%), and most of the patients presented delay in developing the speech (88.5%). In the Fisher-Freeman-Halton test, there was only a statistically significant increase in the number of cases of speech delay in patients treated between 22 days and 12 months of age (c2 = 11.246, p = 0.002, V of Cramer = 0.778). CONCLUSION: Neuropsychological developmental delay was more frequent in patients with CH diagnosed and treated after 21 days of age.

Association of maternal body mass index with intellectual disability risk.

OBJECTIVES: The study aimed to investigate the association between maternal body mass index (BMI) in early pregnancy and children's intellectual disability (ID) risk in the absence of chromosomal disorders, neurofibromatosis and tuberous sclerosis, taking adverse birth outcomes, maternal hypertension/diabetes and maternal socioeconomic status into consideration. METHODS: We conducted a cohort study of singletons without common genetic defects born in Sweden during 1992-2006, and followed them from birth until 31 December 2014 (n=1 186 836). Cox proportional hazards models were used to analyse the association between maternal BMI in early pregnancy and the risk of offspring's ID. RESULTS: The risk of ID was higher in children born to mothers who were underweight (HR=1.21, 95% CI=1.07 to 1.36), overweight (HR=1.28, 95% CI=1.21 to 1.34) or had obesity class I (HR=1.63, 95% CI=1.53 to 1.74), obesity class II (HR=2.08, 95% CI=1.88 to 2.30) and obesity class III (HR=2.31, 95% CI=1.46 to 3.65) than in children born to normal weight mothers. Results remained consistent after excluding children with adverse birth outcome or born to mothers with gestational hypertension/diabetes. Analysis stratified by maternal education and annual household income showed that the association between maternal underweight and children's ID risk was attenuated among children of mothers with tertiary education or with high income. CONCLUSIONS: Our findings suggest that maternal underweight or overweight/obesity in early pregnancy was associated with the development of ID in their offspring. This association was independent of the effect of adverse birth outcomes and maternal hypertension/diabetes. High socioeconomic status may attenuate the risk of ID among children of underweight mothers. This study highlights the importance of improving health education before conception to reduce children's ID risk.

Exploring the role of emotional and behavioral problems in a personality-targeted prevention program for substance use in adolescents and young adults with intellectual disability.

BACKGROUND: Adolescents and young adults with a mild intellectual disability or borderline intellectual functioning (MID-BIF) are at risk for problematic substance use and are more likely to have emotional and behavioral problems than peers without MID-BIF. A personality-targeted prevention program called Take it Personal! effectively reduces substance use in adolescents and young adults with MID-BIF. AIMS: The program's effectiveness was examined on its secondary goal: reducing emotional and behavioral problems. The potentially moderating role of these problems on the program's effectiveness with substance use was also explored. METHODS AND PROCEDURES: Substance use and emotional and behavioral problems were compared between participants in Take it Personal! (n = 34) and those in the control condition (n = 32) in a quasi-experimental pre-posttest study with a three-month follow-up. Effectiveness and moderation were assessed with multilevel models. OUTCOMES AND RESULTS: Take it Personal! seems to reduce rule breaking. There were no significant effects on anxiety, withdrawal, and aggression. None of the problem domains moderated the program's effectiveness on substance use frequency. CONCLUSIONS AND IMPLICATIONS: Take it Personal! may effectively reduce rule breaking. Moreover, adolescent and young adults with different levels of emotional and behavioral problems benefit equally in terms of reduced substance use.

Identifying Predictors for Enhanced Outcomes for People With Intellectual and Developmental Disabilities.

People with intellectual and developmental disabilities (IDD) often rely on Medicaid-funded services and supports to facilitate their daily living. The financial investment for these services is significant, yet little work has been conducted to understand how these investments affect life outcomes. This pilot study used a novel data integration approach to offer initial insights about how Medicaid expenditures relate to outcomes using Medicaid claims data, results of the National Core Indicators consumer survey, and data from the Supports Intensity Scale (SIS). Findings suggested that subpopulations of people with IDD who also had high behavioral needs or high medical needs had significantly higher expenditures than individuals with more typical SIS-assessed support needs. Regression analyses suggested mixed outcomes based on the factors we considered, including a finding that people with IDD who lived in sponsored residential care homes were more likely to engage in inclusive activities in the community than those who lived in larger congregate settings, or those who lived in a family home. Results of this pilot, when brought to scale, will be useful in examining the performance of state IDD service systems over time.

Optimal Assessment and Quantification of Iodine Nutrition in Pregnancy and Lactation: Laboratory and Clinical Methods, Controversies and Future Directions.

Iodine intake must be boosted during pregnancy to meet the demands for increased production and placental transfer of thyroid hormone essential for optimal foetal development. Failure to meet this challenge results in irreversible brain damage, manifested in severity from neurological cretinism to minor or subtle deficits of intelligence and behavioural disorders. Attention is now being focused on explaining observational studies of an association between insufficient iodine intake during pregnancy and mild degrees of intellectual impairment in the offspring and confirming a cause and effect relationship with impaired maternal thyroid function. The current qualitative categorisation of iodine deficiency into mild, moderate and severe by the measurement of the median urinary iodine concentration (MUIC) in a population of school-age children, as a proxy measure of dietary iodine intake, is inappropriate for defining the degree or severity of gestational iodine deficiency and needs to be replaced. This review examines progress in analytical techniques for the measurement of urinary iodine concentration and the application of this technology to epidemiological studies of iodine deficiency with a focus on gestational iodine deficiency. We recommend that more precise definitions and measurements of gestational iodine deficiency, beyond a spot UIC, need to be developed. We review the evidence for hypothyroxinaemia as the cause of intrauterine foetal brain damage in gestational iodine deficiency and discuss the many unanswered questions, from which we propose that further clinical studies need to be designed to address the pathogenesis of neurodevelopmental impairments in the foetus and infant. Agreement on the testing instruments and standardization of processes and procedures for Intelligence Quotient (IQ) and psychomotor tests needs to be reached by investigators, so that valid comparisons can be made among studies of gestational iodine deficiency and neurocognitive outcomes. Finally, the timing, safety and the efficacy of prophylactic iodine supplementation for pregnant and lactating women needs to be established and confirmation that excess intake of iodine during pregnancy is to be avoided.

Neuroprotective strategies following perinatal hypoxia-ischemia: Taking aim at NOS.

Perinatal asphyxia is characterized by oxygen deprivation and lack of perfusion in the perinatal period, leading to hypoxic-ischemic encephalopathy and sequelae such as cerebral palsy, mental retardation, cerebral visual impairment, epilepsy and learning disabilities. On cellular level PA is associated with a decrease in oxygen and glucose leading to ATP depletion and a compromised mitochondrial function. Upon reoxygenation and reperfusion, the renewed availability of oxygen gives rise to not only restoration of cell function, but also to the activation of multiple detrimental biochemical pathways, leading to secondary energy failure and ultimately, cell death. The formation of reactive oxygen species, nitric oxide and peroxynitrite plays a central role in the development of subsequent neurological damage. In this review we give insight into the pathophysiology of perinatal asphyxia, discuss its clinical relevance and summarize current neuroprotective strategies related to therapeutic hypothermia, ischemic postconditioning and pharmacological interventions. The review will also focus on the possible neuroprotective actions and molecular mechanisms of the selective neuronal and inducible nitric oxide synthase inhibitor 2-iminobiotin that may represent a novel therapeutic agent for the treatment of hypoxic-ischemic encephalopathy, both in combination with therapeutic hypothermia in middle- and high-income countries, as well as stand-alone treatment in low-income countries.

A new therapy prevents intellectual disability in mouse with phenylketonuria.

Untreated phenylketonuria (PKU) results in severe neurodevelopmental disorders, which can be partially prevented by an early and rigorous limitation of phenylalanine (Phe) intake. Enzyme substitution therapy with recombinant Anabaena variabilis Phe Ammonia Lyase (rAvPAL) proved to be effective in reducing blood Phe levels in preclinical and clinical studies of adults with PKU. Aims of present study were: a) to gather proofs of clinical efficacy of rAvPAL treatment in preventing neurological impairment in an early treated murine model of PKU; b) to test the advantages of an alternative delivering system for rAvPAL such as autologous erythrocytes. BTBR-Pahenu2-/- mice were treated from 15 to 64 post-natal days with weekly infusions of erythrocytes loaded with rAvPAL. Behavioral, neurochemical, and brain histological markers denoting untreated PKU were examined in early treated adult mice in comparison with untreated and wild type animals. rAvPAL therapy normalized blood and brain Phe; prevented cognitive developmental failure, brain depletion of serotonin, dendritic spine abnormalities, and myelin basic protein reduction. No adverse events or inactivating immune reaction were observed. In conclusion present study testifies the clinical efficacy of rAvPAL treatment in a preclinical model of PKU and the advantages of erythrocytes as carrier of the enzyme in term of frequency of the administrations and prevention of immunological reactions.

To explore the efficacy of community rehabilitation for facilitating daily function among patients with mental illness.

PURPOSE: To explore the efficacy of community rehabilitation for facilitating daily function among patients with mental illness. DESIGN AND METHODS: A quasi-experimental design was used. Two hundred and sixty-four participants completed a daily living function scale questionnaire and provided disease-related information. FINDINGS: Community rehabilitation was shown to be efficient in helping to stabilize mental illness and enhance daily function. Daily function had a significant and positive correlation with disease stability. PRACTICE IMPLICATIONS: Community rehabilitation for patients with mental illness can effectively stabilize and prevent disability among those with mental illness.

Dietary patterns, cost and compliance with low-protein diet of phenylketonuria and other inherited metabolic diseases.

BACKGROUND/OBJECTIVES: Phenylketonuria (PKU) and several other inherited metabolic diseases (IMD) require a lifelong low-protein diet (LPD), otherwise they lead to many health complications. LPDs, however, carry a significant economic burden for patients and their families. The objective of this study was to explore the costs of low-protein foods (LPFs) necessary for LPD as well as dietary patterns and compliance towards an LPD. SUBJECTS/METHODS: A detailed questionnaire was created in cooperation with National Association of PKU and other IMD (NSPKU), and consequently sent to all NSPKU members treated with an LPD (n=303). A total of 184 respondents from the Czech Republic were included in the study (174 had PKU, 10 had other IMD). RESULTS: The average daily consumption of LPF was equal to 411.7 g (PKU) and 345.6 g (other IMD), which corresponds to energy value of 5558 kJ and 4438 kJ, respectively, per patient per day. Patients mostly consumed low-protein flour (≈30% of energy intake), pasta (≈18%), basic pastry (≈15%) and sweets (≈10%). The average monthly costs of LPDs were equal to [euro ]130 (PKU) and [euro ]129 (other IMD) per patient per month. The compliance with LPD was decreasing with increasing age (P<0.0001). CONCLUSIONS: This is the largest study examining costs and dietary patterns of LPDs in patients with PKU and the first study of this kind in other IMD patients requiring an LPD. The study clearly showed that an LPD carries a very high economic burden for families, which may lead to less LPD compliance and potential severe health consequences.

Treatment of Subclinical Hypothyroidism or Hypothyroxinemia in Pregnancy.

BACKGROUND: Subclinical thyroid disease during pregnancy may be associated with adverse outcomes, including a lower-than-normal IQ in offspring. It is unknown whether levothyroxine treatment of women who are identified as having subclinical hypothyroidism or hypothyroxinemia during pregnancy improves cognitive function in their children. METHODS: We screened women with a singleton pregnancy before 20 weeks of gestation for subclinical hypothyroidism, defined as a thyrotropin level of 4.00 mU or more per liter and a normal free thyroxine (T4) level (0.86 to 1.90 ng per deciliter [11 to 24 pmol per liter]), and for hypothyroxinemia, defined as a normal thyrotropin level (0.08 to 3.99 mU per liter) and a low free T4 level (<0.86 ng per deciliter). In separate trials for the two conditions, women were randomly assigned to receive levothyroxine or placebo. Thyroid function was assessed monthly, and the levothyroxine dose was adjusted to attain a normal thyrotropin or free T4 level (depending on the trial), with sham adjustments for placebo. Children underwent annual developmental and behavioral testing for 5 years. The primary outcome was the IQ score at 5 years of age (or at 3 years of age if the 5-year examination was missing) or death at an age of less than 3 years. RESULTS: A total of 677 women with subclinical hypothyroidism underwent randomization at a mean of 16.7 weeks of gestation, and 526 with hypothyroxinemia at a mean of 17.8 weeks of gestation. In the subclinical hypothyroidism trial, the median IQ score of the children was 97 (95% confidence interval [CI], 94 to 99) in the levothyroxine group and 94 (95% CI, 92 to 96) in the placebo group (P=0.71). In the hypothyroxinemia trial, the median IQ score was 94 (95% CI, 91 to 95) in the levothyroxine group and 91 (95% CI, 89 to 93) in the placebo group (P=0.30). In each trial, IQ scores were missing for 4% of the children. There were no significant between-group differences in either trial in any other neurocognitive or pregnancy outcomes or in the incidence of adverse events, which was low in both groups. CONCLUSIONS: Treatment for subclinical hypothyroidism or hypothyroxinemia beginning between 8 and 20 weeks of gestation did not result in significantly better cognitive outcomes in children through 5 years of age than no treatment for those conditions. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Institute of Neurological Disorders and Stroke; ClinicalTrials.gov number, NCT00388297 .).

Provider variability in the initial diagnosis and treatment of congenital hypothyroidism.

BACKGROUND: Early diagnosis and expeditious treatment of newborns with congenital hypothyroidism (CH) is necessary to avoid mental retardation. METHODS: A survey of 44 practitioners in the southern US was conducted to better understand common practices regarding neonatal CH and the findings were compared with current guidelines in the US and Europe. RESULTS: Responses indicated some consensus that 10-15 µg of thyroid hormone/kg/day was the appropriate dosage. However, despite guidelines advocating their use, practitioners reported that they did not commonly use imaging or laboratory tests, though experienced providers apparently used them more often. CONCLUSIONS: Together, these results show moderate adherence to published guidelines for treating and diagnosing CH. Further research is needed to determine why providers deviate from these guidelines and to generalize these results to other populations.

La prevención del consumo de drogas en personas con discapacidad intelectual: evaluación de necesidades desde la perspectiva del profesional / Substance use prevention among the intellectually disabled: an assessment of needs from the professional’s perspective

La prevención en drogodependencias ha demostrado ser una de las más eficaces maneras de luchar contra esta enfermedad; sobre todo en aquellos colectivos vulnerables a sufrir las consecuencias del consumo abusivo de drogas, como es el caso de las personas con discapacidad intelectual. Todo programa preventivo basado en la evidencia científica, debe partir de una sólida evaluación de necesidades para determinar las características particulares del colectivo al que se dirige y su relación con el consumo de sustancias, es decir, determinar las motivaciones, factores de riesgo y protección, consecuencias y creencias que envuelven el consumo en esa población. En el presente trabajo se realizó una evaluación de necesidades siguiendo la metodología cualitativa para determinar qué factores hay que tener en cuenta a la hora de diseñar un programa de prevención de las drogodependencias en personas con discapacidad intelectual. Los resultados obtenidos señalan como aspectos importantes la flexibilidad de los programas y el papel de la familia en los programas preventivos de esta población

Prevention in drug addiction has been proven to be one of the most effective ways of coping with this disorder, especially in the populations who are vulnerable to the consequences of drug abuse, such as the intellectually disabled. Evidence-based prevention programs must start with a sound assessment of needs to determine the special characteristics of the group that is being addressed and its relationship with the substance, such as motivations, risk and protective factors, consequences and beliefs about substance use in this population. A needs assessment was conducted in this study following a qualitative methodology to determine which factors should be taken into account when designing a program of drug prevention for people with intellectual disabilities. The results showed important factors to be the flexibility of programs and the role of the family in prevention programs addressing this population

Intellectual outcomes of extremely preterm infants at school age.

BACKGROUND: The survival rate of extremely preterm (EP) infants (<28 weeks of gestation) has improved dramatically, and there is great interest in the long-term prognosis. The aim of this study was to elucidate the influence of prenatal and postnatal care on long-term intellectual outcome in EP infants. METHODS: Subjects were EP infants admitted to the neonatal intensive care unit from 1982 to 2005. The survival rate and neurodevelopmental outcomes at 6 years of age were analyzed for the periods 1982-1991 (period 1) and 1992-2005 (period 2). Logistic regression analysis was performed to examine risk factors for intellectual impairment. RESULTS: Survival rate improved significantly from 84.5% (period 1) to 92.4% (period 2; P = 0.007). Follow-up data were obtained from 92 children in period 1 (69.7% of survivors) and from 245 in period 2 (72.3% of survivors). The incidence of intellectual impairment increased from 16.3% (period 1) to 31.0% (period 2). Significant factors associated with intellectual impairment were period 2 (OR, 3.53; P = 0.007), supplemental oxygen at 36 weeks' corrected age (OR, 2.22; P = 0.012), number of days in the hospital (OR, 1.01; P = 0.012), intraventricular hemorrhage (IVH; OR, 3.05; P = 0.024), and later tube-feeding commencement date (OR, 1.10; P = 0.032). CONCLUSIONS: Despite an increase in survival rate, the rate of intellectual impairment increased in period 2. According to risk factor analysis, reducing the incidence of chronic lung disease and/or apnea, IVH, and nutritional deprivation is a key factor in improving the intellectual outcomes of EP infants.

["Mental Health in Adults with Intellectual Disabilities. Protective and Risk Factors for Depression and Anxiety" - a Cross-sectional Study]. / "Psychische Gesundheit bei erwachsenen Menschen mit intellektueller Behinderung. Schutz- und Risikofaktoren in Bezug auf Depression und Angststörung" ­ eine Querschnittstudie.

Background: There are not many studies investigating mental health of individuals with intellectual disability. The aim of this study is to provide data on depression and anxiety in individuals with intellectual disability. Method: In a cross-sectional study, we assessed women and men with intellectual disability (18-65 years) with a standardized instrument with 2 divisions (division 1: variables "residence", "self-determination capabilities", "violence experiences", division 2: variables "depression" and "anxiety" with the Patient Health Questionaire-4). Univariate and bivariate analysis of the data was performed. Result: Out of a total of 59% men and 41% women, 44 participated in the study (response rate=45%). Overall, 20% (n=9) of the participants had an increased PHQ-2 score. This can be used as an indicator for depression. 18% (n=8) of the subject group indicated an increased GAD-2 score. This can be used as an indicator of anxiety. Risk factors for depressive disorders were "an increased level of disability" (RR=11,8), "living with parents" (RR=6, 7), "limited self-determination capabilities"(RR=6,2) and "fear of new situations" (RR=5:0). Violence experiences were a risk factor (RR=13,3) for anxiety. Conclusion: In view of the special methodological challenges of this study, the target group is very small. Nevertheless, this is one of the first studies in Germany that reveals factors with an impact on the mental health of individuals with intellectual disabilities. The association of experience of violence with anxiety in individuals with intellectual disability represents an important challenge for public health.

Micro-CT Imaging Reveals Mekk3 Heterozygosity Prevents Cerebral Cavernous Malformations in Ccm2-Deficient Mice.

Mutations in CCM1 (aka KRIT1), CCM2, or CCM3 (aka PDCD10) gene cause cerebral cavernous malformation in humans. Mouse models of CCM disease have been established by deleting Ccm genes in postnatal animals. These mouse models provide invaluable tools to investigate molecular mechanism and therapeutic approaches for CCM disease. However, the full value of these animal models is limited by the lack of an accurate and quantitative method to assess lesion burden and progression. In the present study we have established a refined and detailed contrast enhanced X-ray micro-CT method to measure CCM lesion burden in mouse brains. As this study utilized a voxel dimension of 9.5µm (leading to a minimum feature size of approximately 25µm), it is therefore sufficient to measure CCM lesion volume and number globally and accurately, and provide high-resolution 3-D mapping of CCM lesions in mouse brains. Using this method, we found loss of Ccm1 or Ccm2 in neonatal endothelium confers CCM lesions in the mouse hindbrain with similar total volume and number. This quantitative approach also demonstrated a rescue of CCM lesions with simultaneous deletion of one allele of Mekk3. This method would enhance the value of the established mouse models to study the molecular basis and potential therapies for CCM and other cerebrovascular diseases.