Adapting Attachment and Biobehavioral Catch-up for infants and young children with intellectual disabilities and developmental delays in South Africa: Reflections and recommendations from local stakeholders.

Attachment and Biobehavioral Catch-up (ABC) is an intervention targeted at enhancing the socioemotional and regulatory functioning of at-risk infants. However, to use the ABC for infants/toddlers with intellectual disabilities/developmental delays (ID/DD) and in novel cultural contexts, such as South Africa, adaptations may be required. This study aimed, therefore, to explore the opinions of clinical experts and perceptions of caregivers regarding the use of ABC for children with ID/DD in South Africa. It also sought to incorporate the experiences of families of children with ID/DD who received, and intervenors who delivered, ABC in its first implementation in South Africa. Semi-structured interviews were conducted with 18 participants. Thematic analysis explicated 12 main themes: Intervention Strengths, Points of Concern, and Recommendations (Experts); Focus on Caregiver-child Relationship, and Intervention Targets and Duration (Caregivers); Benefits of ABC, and Cultural Considerations (ABC Recipients); Focused and Targeted, Value of Feedback, Supportive Supervision, Working Alliance, and Challenges Experienced (ABC Intervenors). Practice and training recommendations include psychoeducation for parents and training for intervenors that is ID/DD-specific, expanding supervision capacity, building intervenors' cultural/linguistic sensitivity and competence, accessing referral networks, including local Community Health Workers as intervenors, and greater flexibility in how the sessions are organized.

La intervención de Afectividad y Alcance del Bio-comportamiento (ABC) está dirigida a mejorar el funcionamiento socioemocional y regulatorio de los infantes bajo riesgo. Sin embargo, para usar el ABC para infantes y niños pequeñitos con discapacidades intelectuales / retrasos en el desarrollo (ID/DD) y dentro de nuevos contextos culturales, tal como en Sudáfrica, se requieren adaptaciones. Este estudio se propuso, por tanto, explorar las opiniones de expertos clínicos y las percepciones de quienes prestan el cuidado acerca del uso del ABC con niños con ID/DD en Sudáfrica. También buscaba incorporar las experiencias de familias de niños con ID/DD que recibían, así como de practicantes de la intervención que ofrecían el servicio de ABC durante su primera implementación en Sudáfrica. Se llevaron a cabo entrevistas semiestructuradas con 18 participantes. Análisis temáticos explicaron los 12 principales temas: Puntos Fuertes de la Intervención, Puntos que Preocupan y Recomendaciones (Expertos); Enfoque en la Relación Cuidador-Niño y Metas de Enfoque y Duración de la Intervención (Cuidadores); Beneficios del ABC y Consideraciones Culturales (Quienes recibían el ABC); Lo Enfocado y Diseñado como Meta, Valor de Ideas Recibidas, Supervisión con Apoyo, Alianza de Trabajo y Retos Experimentados (Practicantes de la Intervención ABC). Las recomendaciones de práctica y entrenamiento incluyen la psico-educación de padres, entrenamiento a quienes practican la intervención específicamente orientada a ID/DD, expandir la capacidad de supervisión, formar la sensibilidad y competencia cultural/lingüística de quienes practican la intervención, acceso a los sistemas de referencias, incluir Trabajadores de Salud Comunitarios como practicantes de la intervención y mayor flexibilidad en cómo organizar las sesiones.

L'attachement et le rattrapage bio-comportemental (en anglais Attachment and Biobehavioral Catch-up, soit ABC) est une intervention ciblée sur l'amélioration du fonctionnement socio-émotionnel et régulatoire de bébés à risques. Cependant, pour utiliser l'ABC pour des bébés/jeunes enfants avec des retards intellectuels et des retards du comportement (ID/DD) et dans des contextes culturels nouveaux, comme l'Afrique du Sud, des adaptations pourraient être nécessaires. Par conséquent cette étude s'est donné pour but d'explorer les opinions d'experts cliniques et les perceptions des personnes prenant soin d'un bébé quant à l'utilisation de l'ABC pour des enfants avec ID/DD en Afrique du Sud. On a aussi cherché à incorporer les expériences de familles d'enfants avec ID/DD qui ont reçu l'ABC, ainsi que des intervenants qui l'ont facilité, dans sa première mise en oeuvre en Afrique du Sud. Des entretiens semi-structurés ont été faits avec 18 participants. Une analyse thématique a explicité 12 thèmes principaux: Forces de l'Intervention, Points d'Inquiétude, et Recommandations (Experts); Accent sur la Relation Personne prenant soin de l'enfant-enfant et Cibles d'Intervention et Durée d'Intervention (Personnes prenant soin d'un bébé); Bénéfices de l'ABS, et Considérations Culturels (personnes ayant reçu l'ABC); Ciblé et Centré, Valeur du Retour, Supervision de Soutien, Alliance entre entités, et Défis Vécus (Intervenants ABC). Les recommandations de pratique et de formation incluent une psychoéducation pour les parents, une formation pour les intervenants qui est spécifique à l'ID/DD, l'élargissement de la capacité de supervision, le développement de la sensibilité et de la compétence culturelle/linguistique des intervenants, l'accès aux réseau d'orientation, y compris des Travailleurs de Santé Communautaires en tant qu'intervenants, et une plus grande flexibilité dans la manière dont les sessions sont organisées.

EARLY REGULATION IN CHILDREN WHO ARE LATER DIAGNOSED WITH AUTISM SPECTRUM DISORDER. A LONGITUDINAL STUDY WITHIN THE DANISH NATIONAL BIRTH COHORT.

Studies have shown that children later diagnosed with autism spectrum disorders (ASD) in their first years of life might show symptoms in main developmental areas and that these signs might be sensed by the parents. The present study investigated in a large birth cohort if children later diagnosed with ASD had deviations at 6 and 18 months in areas such as the ability to self-regulate emotions, feeding, and sleeping. The study was based on prospective information collected from 76,322 mothers who participated in the Danish National Birth Cohort. When the children reached an average age of 11 years, 973 children with ASD and a control group of 300 children with intellectual disability (IDnoASD) were identified via Danish health registries. Associations were found between short periods of breast-feeding and the children later diagnosed with ASD and IDnoASD as well as associations at 18 months to deviations in regulation of emotions and activity. The similarities in these associations emphasize how difficult it is to distinguish between diagnoses early in life.

Phenotype in patients with intellectual disability and pathological results in array CGH. / Fenotipo en pacientes con discapacidad intelectual y array-CGH patológico.

INTRODUCTION: Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing these disorders. Our purpose was to determine the phenotypic features associated with pathological results in this genetic test. METHODS: We conducted a blind study of the epidemiological, clinical, anthropometric, and morphological features of 80 patients with unexplained ID to determine which features were associated with pathological results in array-CGH. RESULTS: Pathological results were found in 27.5% of the patients. Factors associated with pathological results in array-CGH were a family history of GDD/ID (OR = 12.1), congenital malformations (OR = 5.33), having more than 3 facial dysmorphic features (OR = 20.9), and hypotonia (OR = 3.25). CONCLUSIONS: Our findings are consistent with those reported by other published series. We therefore conclude that the probability of having pathological results in array-CGH increases with the presence of any of the features mentioned above in patients with ID/GDD.

Clinical, molecular, and pharmacological aspects of FMR1 related disorders. / Aspectos clínicos, moleculares y farmacológicos en los trastornos asociados a gen 1 del retraso mental del X frágil.

BACKGROUND: Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family. This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 gene (FMR1) and the neurobiology of the fragile X mental retardation protein (FMRP), and also provides an overview of the potential therapeutic targets and genetic counselling. DEVELOPMENT: This disorder is caused by expansion of the CGG repeat (>200 repeats) in the 5 prime untranslated region of FMR1, resulting in a deficit or absence of FMRP. FMRP is an RNA-binding protein that regulates the translation of several genes that are important in synaptic plasticity and dendritic maturation. It is believed that CGG repeat expansions in the premutation range (55 to 200 repeats) elicit an increase in mRNA levels of FMR1, which may cause neuronal toxicity. These changes manifest clinically as developmental problems such as autism and learning disabilities as well as neurodegenerative diseases including fragile X-associated tremor/ataxia syndrome (FXTAS). CONCLUSIONS: Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of neuropsychiatric disorders, and they will probably contribute to development of new and specific treatments.

[An updated review of 1p36 deletion (monosomy) syndrome]. / Una revisión actualizada del síndrome de deleción (monosomía) 1p36.

The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and hydrocephalus (in some cases). Cerebral malformations: ventricular hypertrophy, increased subarachnoid space, morphological alterations of corpus callosum, cortical atrophy, delays in myelinisation, periventricular leukomalacia and periventricular heterotopia. These alterations produce intellectual disability and delays in motor growth, communication skills, language, social and adaptive behaviour. It is Hearing and vision impairments are also observed in subjects with this syndrome, as well as alterations of cardiac, endocrine and urinary systems and alterations at skin and skeletal level. CONCLUSIONS: Approximately 100 cases have been documented since 1981. This rare disease is the most common subtelomeric-micro-deletion syndrome. In situ hybridization with fluorescence (FISH) and array-comparative genomic hybridization (CGH-array) are at present the two best diagnostic techniques. There is currently no effective medical treatment for this disease.

[Nutritional status in children with intellectual disabilities based on anthropometric profile]. / Perfil antropométrico en función del estado nutricional de niños con discapacidad intelectual.

INTRODUCTION: Anthropometric variables such as weight, height and body length in children and adolescents with and without intellectual disabilities should be studied in connection with nutritional status, physical growth and biological maturation. OBJECTIVE: a) to analyze the anthropometric profile based on nutritional status, b) to determine the prevalence of overweight and short stature c) to propose equations for predicting height from anthropometric variables. METHODS: A total of 49 children and adolescents with intellectual disabilities, and from a special education school were studied (30 boys and 19 girls). Weight, height, trunk-cephalic height, forearm and foot length were evaluated. The calculation of nutritional status resulted in the establishment of nutritional categories: underweight, normal and overweight. RESULTS: The anthropometric profile of males varies significantly when classified according to nutritional categories (P<.05); however no variations were observed in the girls (P>.05). Also, high values of overweight prevalence were observed in both genders (43% of boys and 26% of girls). Variables such as age, weight, length of the forearm in females, and foot length in males are good predictors of height (R(2) = 91-94% males and R(2) = 87% females). CONCLUSIONS: A high percentage of overweight cases were observed; therefore, rigorous control and monitoring of nutritional status are suggested. The proposed regression equations could be an option in schools to easily and simply predict height.

Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.

Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation.

Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.

INTRODUCTION: Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. MATERIAL AND METHOD: We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. RESULTS: During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. DISCUSSION: The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors') queries, and halt further diagnostic studies.

[Effects of a physical exercise programme on the risk of falls, balance, and walking speed in older people with intellectual disabilities]. / Efecto de un programa de ejercicio físico sobre el riesgo de caídas, equilibrio y velocidad de la marcha en personas mayores con discapacidad intelectual.

INTRODUCTION: People with intellectual disabilities (ID) have balance disturbances and risk of falls, which are aggravated with ageing. This study aimed to provide information on the effects of an exercise programme on fall risk, balance, and walking speed in a group of older people with ID. MATERIALS AND METHODS: Eight people with mild to moderate ID (mean age: 56.37±7.08 years) participated in a 12-week programme based on a weekly session that included exercises aimed at strengthening stabilising muscles, stimulating proprioception, and enhancing reflexes in unstable situations. The effects of the programme on the risk of falling and on balance and walking speed were assessed using the Tinetti scale and the Timed Up and Go test, respectively. RESULTS: The programme was feasible and no adverse effects were registered. At the end of the programme, the risk of falls remained unchanged, while balance and gait speed improved significantly. CONCLUSIONS: A three-month weekly programme based on muscle strengthening and proprioceptive re-education exercises was feasible and had a positive impact on balance and walking speed in a group of older people with ID. These results lay the foundation for future randomised clinical trials aiming to confirm the effects of such programmes on the risk of falls in this population.

Primer caso reportado en Panamá de: Síndrome de Baraitser Winter

El síndrome cerebro-frontal-facial de Baraitser-Winter (BWCFF) se origina a partir de mutaciones sin sentido, heterocigóticas, en uno de los dos genes ubicuos que codifican la actina citoplásmica, ya sea ACTB o ACTG1. Este síndrome es una combinación de malformaciones faciales y cerebrales. Entre las malformaciones faciales que podemos observar, destacan el coloboma de iris, la ptosis bilateral, el hipertelorismo, el puente nasal ancho y los pliegues epicánticos prominentes. Las malformaciones cerebrales incluyen la paquigiria, la heterotopia de banda subcortical y las anomalías del cuerpo calloso. En este contexto, presentamos el caso de una niña de 11 años que presentaba algunos rasgos faciales distintivos, además de malformaciones cerebrales, baja estatura, discapacidad cognitiva moderada, y retraso del habla y lenguaje. Mediante secuenciación por exoma clínico dirigido, se identificó una variante sin sentido heterocigota de Novo en ACTB: c.617G>A (p. Arg206Gln). (provisto por Infomedic International)

The Baraitser-Winter cerebral-front-facial syndrome (BWCFF) is caused by heterozygous nonsense mutations in one of the two ubiquitous genes encoding cytoplasmic actin, either ACTB or ACTG1. The syndrome combines facial and cerebral malformations. Among the facial malformations that can be observed are iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The cerebral malformations include pachygyria, subcortical band heterotopia, and anomalies of the corpus callosum. We present the case of an 11-year-old girl who had some distinctive facial features, as well as cerebral malformations, short stature, moderate cognitive disability, and speech and language delay. Targeted clinical exome sequencing identified a heterozygous de novo nonsense variant in ACTB: c.617G>A (p. Arg206Gln). (provided by Infomedic International)

Un análisis integrado entre la calidad de vida y las necesidades de apoyo de personas adultas con discapacidad intelectual en Chile / An integrated analysis between the quality of life and the support needs of adults with intellectual disabilities in Chile

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)

The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)

Calidad de vida en colombianos con discapacidad intelectual: efectos del confinamiento ocasionado por COVID-19 / The Quality of Life in Colombians with Intellectual Disabilities: Effects of Confinement Caused by COVID-19

La pandemia llevó a que se incrementaran las medidas de bioseguridad y se adoptara el confinamiento para evitar la propagación del virus, lo que repercutió en la calidad de vida de todas las personas, incluyendo a aquellas con discapacidad intelectual. El propósito de este estudio fue establecer cómo era la calidad de vida de las personas con discapacidad intelectual durante el confinamiento por la COVID-19, mediante la aplicación de un cuestionario en línea que fue completado por 78 familias de personas con discapacidad intelectual en Colombia. Los principales hallazgos dan cuenta de que al 91 % de las personas con discapacidad intelectual le explicaron sobre el confinamiento y el 79,5 % tuvo conocimiento acerca de las causas para dicho confinamiento; el 43.6 % presentó un nivel alto de participación en las actividades y rutinas familiares; el 80.8 % pudo elegir los espacios y tiempos para realizar sus actividades individuales; el 92.3 % tuvo acceso a los implementos y recursos necesarios para su vida diaria; el 71.8 % no experimentó cambios en los hábitos de alimentación; el 44.9 % reportó un estado regular de salud; el 64.1 % experimentó cambios en sus hábitos de sueño, y el 79.5 % no recibió apoyos gubernamentales. Las personas con discapacidad intelectual moderada tuvieron un mayor contacto con su familia extensa (52.50 %) y un 85.7 % de quienes presentaban discapacidad severa y profunda evidenciaron cambios en su estado de ánimo. En conclusión, las personas con discapacidad intelectual experimentaron una serie de adaptaciones en los entornos inmediatos, que tuvieron que llevar a cabo las familias y las instituciones, para minimizar el impacto del confinamiento en su calidad de vida. (AU)

The pandemic led to increased biosecurity measures and the adoption of confinement to prevent the spread of the virus, which impacted the quality of life of all people, including persons with intellectual disabilities. The purpose of this study was to establish what the quality of life of persons with intellectual disabilities was like during the confinement by COVID-19, through the application of an online questionnaire that was completed by 78 families of persons with intellectual disabilities in Colombia. The main findings show that 91 % of persons with intellectual disabilities explained about confinement and 79.5 % were aware of the causes for such confinement; 43.6 % presented a high level of participation in family activities and routines; 80.8 % were able to choose the spaces and times to carry out their individual activities; 92.3 % had access to the implements and resources necessary for their daily lives; 71.8 % experienced no changes in eating habits; 44.9 % reported a regular state of health; 64.1 % experienced changes in their sleep habits, and 79.5 % did not receive government support. Persons with moderate intellectual disability had greater contact with their extended family (52.50 %) and 85.7 % of those with severe and profound disability showed changes in their mood. In conclusion, persons with intellectual disabilities experienced several adaptations in the immediate environments, that families and institutions had to carry out, to minimize the impact of confinement on their quality of life. (AU)

Un análisis integrado entre la calidad de vida y las necesidades de apoyo de personas adultas con discapacidad intelectual en Chile / An integrated analysis between the quality of life and the support needs of adults with intellectual disabilities in Chile

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)

The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)

Transición de jóvenes con trastornos del neurodesarrollo / The transition of youth with neurodevelopmental disorders

La transición de la atención pediátrica a la de adultos, en adolescentes y jóvenes con condiciones crónicas de salud, es un proceso necesario y difícil. El proceso de transición de estos pacientes contará con diferentes matices según la condición de salud, las características del sistema sanitario, los equipos de salud involucrados y los factores contextuales del joven y su familia. El objetivo central es que a través de una autonomía progresiva el joven llegue a ser un adulto competente en cuanto a asumir y manejar sus necesidades de salud, relaciones sociales y laborales que su enfermedad crónica le permita. Pero estos objetivos se ven interferidos cuando hablamos de jóvenes con condiciones crónicas que involucran el neurodesarrollo y es más complejo aún cuando nos referimos a jóvenes que no serán autónomos. Para las familias y cuidadores de estos jóvenes los centros pediátricos son un entorno más protegido que cuesta dejar. Por todo esto es que, si bien hay lineamientos generales a tener en cuenta, cada equipo debe revisar sus resultados para poder avanzar. Aún no se logró consenso acerca de cuál es el momento óptimo, la edad y las mejores estrategias, aunque es reconocida la dificultad para implementar un programa adecuado y más aún evaluar los resultados de los programas que se utilizan en la transición; se llevan adelante programas "genéricos" utilizados para diferentes enfermedades crónicas, o específicos para una enfermedad, otros programas combinan ambas estrategias. Basados en lo anterior hay jóvenes y familias que requieren un armado "artesanal y a medida" (AU)

The transition from pediatric to adult care for adolescents and young people with chronic health conditions is a necessary yet challenging process. This transition will vary depending on the health condition, the characteristics of the health system, the health teams involved, and the contextual factors of the youth and their family. The central objective is for the youth to achieve progressive autonomy, becoming a competent adult capable of managing their health needs, social, and work relationships, as allowed by their chronic disease. However, these objectives become more complicated when dealing with young people with chronic conditions involving neurodevelopment, and even more so for those who will never achieve autonomy. For the families and caregivers of these youths, pediatric centers offer a more protected environment that is difficult to leave. For all these reasons, while general guidelines should be considered, each team must review its results to move forward. Consensus has not yet been reached on the optimal time, age, and best strategies for transition. It is recognized that implementing an adequate program is challenging, and evaluating the results of these programs is even more difficult. There are "generic" programs used for various chronic diseases, as well as disease-specific programs, and some programs combine both strategies. Given these complexities, some young people and their families require a "handcrafted and tailor-made" approach (AU)

Beneficios y limitaciones de la planificación centrada en la persona en el campo de la discapacidad intelectual y del desarrollo: una revisión sistemática según las directrices de PRISMA / Benefits and limitations of person-centered planning in the field of intellectual and developmental disabilities: a systematic review according to PRISMA guidelines

La metodología de Planificación Centrada en la Persona (PCP) cada vez tiene mayor impacto en España. Comenzando desde las distintas legislaciones que regulan la atención a este colectivo en las diferentes autonomías y terminando en los centros que proveen este servicio. No obstante, existe escasa literatura internacional de estudios empíricos a grandes escalas que sitúen este enfoque metodológico en una posición relevante que garantice la eficacia de la PCP. El objetivo principal de este estudio es conocer el estado del uso de la metodología de PCP a través de estudios avalados empíricamente que sostengan tanto beneficios como limitaciones durante los últimos 10 años (2012-2022). Para ello, se ha realizado una revisión sistemática desde las directrices de PRISMA (2020), que incluye un total de 31 artículos. Como conclusión, se han descubierto más beneficios que limitaciones entre las que destacan las ventajas en su uso para las personas con discapacidad intelectual y del desarrollo y las mejoras de aspectos relacionados con la autodeterminación. No obstante, las limitaciones prevalecen por la falta de apoyos y recursos adecuados de las organizaciones para responder a una planificación centrada en la persona y la necesidad de formación de las personas implicadas en la elaboración de la PCP, lo que genera la incógnita de si se están realizando buenas prácticas en el uso de dicha metodología. (AU)

The methodology of Person Centered Planning (PCP) is having an increasing impact in Spain. Starting from the different legislations that regulate the attention to this group in the different autonomous regions and ending in the centers that provide this service. However, there is little international literature on large-scale empirical studies that place this methodological approach in a relevant position to guarantee the efficacy of PCP. The main objective of this study is to know the status of the use of PCP methodology through empirically supported studies that sustain both benefits and limitations during the last 10 years (2012-2022). For this purpose, a systematic review has been conducted since the PRISMA guidelines (2020), including a total of 31 articles. As a conclusion, more benefits than limitations have been found, among which the advantages in its use for people with intellectual and developmental disabilities and improvements in aspects related to self-determination stand out. However, limitations prevail due to the lack of adequate support and resources from organizations to respond to person-centered planning and the need for training of the people involved in the development of the PCP, which raises the question of whether good practices are being carried out in the use of this methodology. (AU)

Beneficios y limitaciones de la planificación centrada en la persona en el campo de la discapacidad intelectual y del desarrollo: una revisión sistemática según las directrices de PRISMA / Benefits and limitations of person-centered planning in the field of intellectual and developmental disabilities: a systematic review according to PRISMA guidelines

La metodología de Planificación Centrada en la Persona (PCP) cada vez tiene mayor impacto en España. Comenzando desde las distintas legislaciones que regulan la atención a este colectivo en las diferentes autonomías y terminando en los centros que proveen este servicio. No obstante, existe escasa literatura internacional de estudios empíricos a grandes escalas que sitúen este enfoque metodológico en una posición relevante que garantice la eficacia de la PCP. El objetivo principal de este estudio es conocer el estado del uso de la metodología de PCP a través de estudios avalados empíricamente que sostengan tanto beneficios como limitaciones durante los últimos 10 años (2012-2022). Para ello, se ha realizado una revisión sistemática desde las directrices de PRISMA (2020), que incluye un total de 31 artículos. Como conclusión, se han descubierto más beneficios que limitaciones entre las que destacan las ventajas en su uso para las personas con discapacidad intelectual y del desarrollo y las mejoras de aspectos relacionados con la autodeterminación. No obstante, las limitaciones prevalecen por la falta de apoyos y recursos adecuados de las organizaciones para responder a una planificación centrada en la persona y la necesidad de formación de las personas implicadas en la elaboración de la PCP, lo que genera la incógnita de si se están realizando buenas prácticas en el uso de dicha metodología. (AU)

The methodology of Person Centered Planning (PCP) is having an increasing impact in Spain. Starting from the different legislations that regulate the attention to this group in the different autonomous regions and ending in the centers that provide this service. However, there is little international literature on large-scale empirical studies that place this methodological approach in a relevant position to guarantee the efficacy of PCP. The main objective of this study is to know the status of the use of PCP methodology through empirically supported studies that sustain both benefits and limitations during the last 10 years (2012-2022). For this purpose, a systematic review has been conducted since the PRISMA guidelines (2020), including a total of 31 articles. As a conclusion, more benefits than limitations have been found, among which the advantages in its use for people with intellectual and developmental disabilities and improvements in aspects related to self-determination stand out. However, limitations prevail due to the lack of adequate support and resources from organizations to respond to person-centered planning and the need for training of the people involved in the development of the PCP, which raises the question of whether good practices are being carried out in the use of this methodology. (AU)

Efficacy of Early Intervention Programmes: Systematic Review and Meta-analysis / Eficacia de los programas de atención temprana: revisión sistemática y metaanálisis

Background: Early childhood intervention is a form of intervention aimed at children to overcome difficulties in different areas of their development after birth. There are multiple early intervention programmes, but only a few studies assess their efficacy using data. Objective: A systematic review and meta-analysis of early intervention programmes was carried out. Method: Inclusion criteria were considered to be empirical studies, with outcome data on children between 0 and 6 years of age with various developmental problems. The review was conducted in nine databases. Results: Of the total number of studies from 2000 to 2021 in English and Spanish, 40 studies were included that looked at the efficacy of the programmes. Of these, 19 used comparisons with a control group, and 13 used single-subject designs, as well as other designs. The programmes were very diverse, mostly based on behavioural procedures, and aimed at promoting the development of specific areas. The quality of the studies is medium-high. The meta-analysis included 18 studies with a mean effect size d = 0.45 (CI = 0.18, 0.67), with high sample heterogeneity and low study selection bias. Conclusions: Early childhood interventions have a medium and positive efficacy on the skills and abilities of children with developmental problems. The limitations of the reviewed studies are discussed, as well as the need for well-defined programmes, long-term measurements, and comparisons of different types of programmes among them. (AU)

Antecedentes: La atención temprana es una forma de intervención dirigida a niños y niñas para intentar superar las dificultades en distintas áreas de su desarrollo tras el nacimiento. Existen múltiples programas, pero pocos estudios comparando con datos su eficacia. Objetivo: Se ha realizado una revisión sistemática y un metaanálisis de los programas de atención temprana. Método: Como criterios de inclusión se consideró que fuesen estudios empíricos con resultados sobre niños con diversos problemas de desarrollo entre 0 y 6 años. La revisión se realizó con nueve bases de datos. Resultados: Del total de estudios desde 2000 a 2021 en español e inglés se incluyeron 40 estudios que permitían ver la eficacia de los programas. De ellos 19 utilizaron comparaciones frente a un grupo control y 13 con diseños de caso único, además de otros diseños. Los programas de atención temprana fueron muy diversos, en su mayoría basados en procedimientos conductuales y dirigidos a impulsar el desarrollo de áreas específicas. La calidad de los estudios es media-alta. En el metaanálisis se incluyeron 18 estudios con un tamaño del efecto medio, d = 0.45 (CI = 0.18, 0.67), con gran heterogeneidad de las muestras y poco sesgo en la selección de estudios. Conclusiones: Los programas de atención temprana presentan una eficacia media y positiva con respecto a las habilidades y capacidades de los niños y niñas con problemas de desarrollo. Se comentan las limitaciones de los estudios revisados y la necesidad utilizar programas bien definidos, mediciones a largo plazo y comparaciones de diversos tipos de programas entre sí. (AU)

Vivências de pais de pessoas com deficiência intelectual relacionadas à inclusão no trabalho / Experiences of parents of people with intellectual disabilities regarding their inclusion at work / Experiencias de padres de personas con discapacidad intelectual sobre inclusión laboral

A inclusão social de pessoas com deficiência intelectual (DI) vem ganhando destaque no Brasil, devido ao advento da Lei de Inclusão (13.146/2015) e de metodologias sociais como o Emprego Apoiado. Este estudo buscou compreender as concepções parentais a respeito da carreira profissional de seus filhos com DI. Participaram 10 casais de mães e pais de pessoas com DI de diferentes faixas etárias. O método foi qualitativo fenomenológico, com recurso de narrativas compreensivas. Quatro eixos estruturantes foram identificados: (a) condições estruturais que impactam a inclusão; (b) percepções e sentimentos a respeito da DI; (c) inclusão: uma corrida de obstáculos permanentes?; e (d) protagonismo familiar. Esses tópicos foram discutidos à luz do paradigma dos estigmas e da teoria de justificação do sistema. Foram descritos fatores que dificultam a inclusão, como contexto de trabalho individualista e competitivo, restrição de oportunidades profissionais, superproteção, falsa consciência, descrença implícita na mudança ou superação e ambiguidades quanto às reais possibilidades dos filhos. Evidenciou-se a importância do apoio, ainda que este não esteja livre de estruturas estigmatizantes, e também a centralidade da condição de pais de pessoas com DI como noção de identidade, elementos que dificultam sua ação como coadjuvantes na vida dos filhos. O contexto profissional foi reconhecido como ambiente de maior inclusão vivida, apesar das dificuldades. Ressalta-se a necessidade de orientação de familiares para um novo olhar a respeito das condições e potenciais de seus filhos, bem como do aprimoramento de políticas públicas em prol de uma sociedade mais inclusiva.(AU)

The inclusion of people with intellectual disabilities (ID) has been gaining prominence due to the advent of the Brazilian Inclusion Law (13.146/2015) and social methodologies such as supported employment. This study aimed to understand the view parents have regarding the professional career of their children with ID. Overall, 10 couples, mothers, and fathers of people with ID from different age groups participated in this study. A qualitative phenomenological method using comprehensive narratives was chosen. This study found four structuring axes: (a) structural conditions that affect inclusion; (b) perceptions and feelings about ID; (c) inclusion: a permanent obstacle course; and (d) families' leading role. The paradigm of stigmas and system justification theory were the references to discuss those topics. This study describes the factors that hinder inclusion, such as individualistic and competitive work contexts, restriction of professional opportunities, overprotection, false awareness, implicit disbelief in changing or overcoming difficulties, and ambiguities regarding the sons' and daughters' real possibilities. It is highlighted both the importance of support (even if it tied to stigmatizing structures) and the centrality of the condition of parents of people with ID as a notion of identity, elements that make it difficult for them to act as supporting actors in their sons' and daughters' lives. The work context constituted an environment of greater inclusion, despite difficulties. In conclusion, this study found an emphatic need for family members to have a new look at the conditions and potential of their children, as well as for the improvement of public policies in favor of a more inclusive society.(AU)

La inclusión social de personas con discapacidad intelectual (DI) viene ganando protagonismo debido al advenimiento de la Ley de Inclusión brasileña (13.146/2015) y de metodologías sociales como el Empleo con Apoyo. Este estudio tuvo como objetivo comprender las concepciones que los padres tienen sobre la carrera profesional de sus hijos con DI. Participaron 10 parejas, madres y padres de personas con DI de diferentes grupos de edad. El método fue cualitativo fenomenológico, utilizando narrativas comprensivas. Se identificaron cuatro ejes estructurantes: (a) condiciones estructurales que inciden en la inclusión; (b) percepciones y sentimientos sobre la DI; (c) ¿inclusión: una carrera de obstáculos permanentes?; y (d) protagonismo familiar. Estos temas se discutieron a la luz del paradigma de los estigmas y de la teoría de la justificación del sistema. Se describieron factores que dificultan la inclusión, como un contexto de trabajo individualista y competitivo, la restricción de oportunidades profesionales, la sobreprotección, la falsa conciencia, la incredulidad implícita en cambiar o superar las dificultades y las ambigüedades sobre las posibilidades reales de los hijos. Se destacó la importancia del apoyo, aunque no exento de estructuras estigmatizantes, y también la centralidad de la condición de padres de personas con DI como la noción de identidad, elementos que les dificultan actuar como actores secundarios en la vida de los hijos. El contexto profesional fue reconocido como un ambiente de mayor inclusión a pesar de las dificultades. Se concluye con el énfasis en la necesidad de que los familiares tengan una nueva mirada sobre las condiciones y potencialidades de sus hijos, así como la mejora de las políticas públicas a favor de una sociedad más inclusiva.(AU)

La superación del profesor de Educación Física para desarrollar la autodeterminación, en educandos con discapacidad intelectual

La superación continua de los profesores de Educación Física constituye una necesidad que ha transcendido diferentes generaciones de docentes, determinada por el desarrollo creciente de la ciencia y la técnica, las exigencias del tercer perfeccionamiento educacional cubano, las demandas en la preparación y capacitación del profesorado y la necesidad de su incidencia en la formación de un egresado apto y capaz de desarrollar no solo habilidades y capacidades físicas, sino también para la vida, que les permitan actuar en el medio social, familiar y laboral. El objetivo de esta investigación consistió en diseñar una estrategia pedagógica de superación para transformar los modos de actuación de los profesores de Educación Física, en la dirección del proceso de enseñanza-aprendizaje, en función del desarrollo de habilidades de autodeterminación en los educandos en situación de discapacidad intelectual. Los métodos investigativos utilizados en el orden teórico y empírico fueron el análisis y síntesis, el histórico-lógico, el inductivo-deductivo, la modelación y el sistémico-estructural-funcional; además de la entrevista, la observación, la encuesta, el análisis de documentos, el criterio de expertos y la triangulación múltiple, los que permitieron revelar las causales que inciden en el normal desarrollo de las habilidades de autodeterminación, así como elaborar la estrategia. Con su implementación se perfeccionó el desempeño profesional y personal de los profesores y los educandos, quienes egresaron con el empoderamiento de habilidades para la toma de decisiones, la realización de elecciones, la resolución de problemas y el establecimiento de metas y objetivos.

O aperfeiçoamento contínuo dos professores de Educação Física constitui uma necessidade que transcendeu as diferentes gerações de professores, determinada pelo crescente desenvolvimento da ciência e da tecnologia, pelas exigências do terceiro melhoramento educacional cubano, pelas exigências na preparação e formação de professores e pela necessidade de seu impacto na formação de um egresso qualificado, capaz de desenvolver não apenas competências e habilidades físicas, mas também para a vida, que lhe permitam atuar no ambiente social, familiar e de trabalho. Discapacidade intelectual. Os métodos investigativos utilizados na ordem teórica e empírica foram análise e síntese, histórico-lógico, indutivo-dedutivo, modelagem e sistêmico-estrutural-funcional; Além da entrevista, observação, inquérito, análise documental, peritagem e triangulação múltipla, que permitiram revelar as causas que afetam o normal desenvolvimento das competências de autodeterminação, bem como desenvolver a estratégia. Com a sua implementação melhorou-se o desempenho profissional e pessoal de professores e alunos, que se formaram com a capacitação de competências para tomar decisões, fazer escolhas, resolver problemas e estabelecer metas e objetivos.

The continuous improvement of Physical Education teachers constitutes a need that has transcended different generations of teachers, determined by the growing development of science and technology, the demands of the third Cuban educational improvement, the demands in the preparation and training of teachers and the need for its impact on the training of a qualified graduate capable of developing not only physical skills and abilities, but also for life, which allow them to act in the social, family and work environment. The objective of this research was to design a pedagogical improvement strategy to transform the modes of action of Physical Education teachers, in the direction of the teaching-learning process, based on the development of self-determination skills in students in situations of intellectual disability. The investigative methods used in the theoretical and empirical order were analysis and synthesis, historical-logical, inductive-deductive, modeling and systemic-structural-functional; In addition to the interview, observation, survey, document analysis, expert judgment and multiple triangulations, which allowed us to reveal the causes that affect the normal development of self-determination skills, as well as to develop the strategy. With its implementation, the professional and personal performance of teachers and students was improved, who graduated with the empowerment of skills for making decisions, making choices, solving problems and establishing goals and objectives.

Knowledge, attitudes and practices related to oral health in participants of the institutional program for the inclusion of people with cognitive disabilities in higher education at the University of Costa Rica / Conocimientos, actitudes y prácticas relacionadas con la salud oral en participantes del Programa Institucional de Inclusión de Personas con Discapacidad Cognitiva a la Educación Superior de la Universidad de Costa Rica

Abstract People with cognitive disabilities face multiple challenges concerning oral health and frequently show oral tissue decay because of the barriers society imposes upon them, and due to financial issues, professional and family lack of knowledge, limitations regarding access to services, lack of empowering-driven actions, among others. Positive knowledge, attitudes and practices regarding oral health, developed during the course of a lifetime, help in preserving good health. The aim of the current study is to describe oral health knowledge, attitudes and practices in people with cognitive disabilities participating in the Institutional Program for the Inclusion of People with Cognitive Disabilities in Higher Education at the University of Costa Rica (PROIN, in Spanish), during 2021. A descriptive study with mixed focus was performed; a representative sample comprised of 86 students enrolled in PROIN was used for the quantitative approach, while the qualitative approach used a criteria sample along with an opinion sample, limiting size due to information overload. The survey, along with its corresponding questionnaire and the semi-structured interview, were used as data gathering techniques. It was evidenced that certain issues need to be readdressed, such as bleeding gums, the importance of preserving dental pieces, as well, the practice of flossing, which many students expressed difficulties doing. Good attitudes were found, such as dentist visits; however, access barriers for this population must be overthrown. This article showed the importance of training professionals in disabilities as well as developing oral health promotion programs aimed at people with cognitive disabilities.

Resumen La población con discapacidad cognitiva enfrenta múltiples retos en cuanto a la salud oral, presentado comúnmente un deterioro de los tejidos orales; esto como consecuencia a las barreras impuestas por la sociedad, factores económicos, desconocimiento de los profesionales y familiares, limitaciones en el acceso a la atención, falta de acciones para fomentar su autonomía, entre otras. Los conocimientos, actitudes y prácticas favorables en salud oral ayudan a conservar una buena salud, los cuales se desarrollan a lo largo de la vida. El objetivo del presente estudio es describir los conocimientos, actitudes y prácticas de salud oral en las personas con discapacidad cognitiva que participaron en el Programa Institucional de Inclusión de Personas con Discapacidad Cognitiva a la Educación Superior de la Universidad de Costa Rica (PROIN) durante el año 2021. Se realizó un estudio descriptivo con un enfoque mixto, para el enfoque cuantitativo se utilizó una muestra representativa de 86 estudiantes matriculados en PROIN y para la parte cualitativa se utilizó una muestra por criterio con un muestreo opinático, estableciendo el tamaño por saturación de la información. Se utilizaron como técnicas de recolección de datos la encuesta con su respectivo cuestionario y la entrevista semiestructurada. Se evidenció que existen temas que se deben reforzar, como lo es el sangrado de encías, la importancia de conservar las piezas dentales, así como la práctica de uso de hilo dental, donde la mayoría de los estudiantes expresaron tener dificultades para su utilización. Además, se encontró buenas actitudes con respecto a la visita al odontólogo, sin embargo, se debe derribar barreras de acceso que se presentan para esta población. Este estudio demostró la necesidad de capacitar a los profesionales en el tema de discapacidad y desarrollar programas de promoción de la salud oral específicos para personas con discapacidad cognitiva.