Perfil de autodeterminação de adultos com e sem dificuldades intelectuais e desenvolvimentais: estudo comparativo / Self-determination profile of adults with and without intellectual and developmental difficulties: comparative study

RESUMO O reconhecimento da autodeterminação tem vindo a ser evidente também no campo da Dificuldade Intelectual e Desenvolvimental (DID), visto que a pessoa deve assumir-se como agente ativo e decisor na própria vida. A aprendizagem das competências autodeterminadas é fundamental dada a sua transversalidade contextual, não se devendo restringir apenas à adolescência. Em Portugal, as evidências são escassas e baseadas no anterior modelo. Assim sendo, o objetivo deste estudo foi identificar o perfil de autodeterminação, à luz da teoria do agente causal, de adultos com DID, no intuito de analisar as variáveis que o influenciam. A versão portuguesa do Inventário de Autodeterminação foi aplicada a 44 participantes entre os 21-73 anos (40.77±12.07), 20 do género feminino e 24 do masculino. Metade da amostra eram participantes com DID, todos institucionalizados. A consistência interna foi aceitável (α=.65). A análise comparativa pelo diagnóstico, género, idade, habilitações académicas, situação profissional e local de residência apontou a tendência para perfis semelhantes (p>.05). As diferenças encontradas estão associadas a perfis mais autodeterminados de adultos com DID, inferindo-se o maior peso das características envolvimentais do que individuais (diagnóstico). As pessoas com DID reconhecem a autodeterminação como relevante e apresentam as habilidades para a decisão. Recomendações para a investigação e para a prática serão avançadas.

ABSTRACT The recognition of self-determination has also become evident in the field of Intellectual and Developmental Disability (IDD), as the person must assume him/herself as an active agent and decision-maker in his/her own life. Learning self-determined skills is fundamental given their contextual transversality and should not be restricted to the period of adolescence. In Portugal, evidence is scarce and based on the previous model. Therefore, the aim of this study was to identify the self-determination profile, in the light of the causal agent theory, of adults with IDD, in order to analyze the variables that influence it. The Portuguese version of the Self-Determination Inventory was applied to 44 participants aged between 21-73 years old (40.77±12.07), 20 females and 24 males. Half of the sample were participants with IDD, all institutionalized. Internal consistency was acceptable (α=.65). The comparative analysis by diagnosis, gender, age, academic qualifications, professional status and place of residence showed a tendency towards similar profiles (p>.05). The differences found are associated with more self-determined profiles of adults with ID, inferring the greater weight of involvement characteristics than individual ones (diagnosis). People with IDD recognize self-determination as relevant and present decision-making skills. Recommendations for research and practice will be advanced.

Risk Factors for cognitive, motor and language development of preterm children in the first year of life / Fatores de risco para o desenvolvimento cognitivo, motor e de linguagem ao longo do primeiro ano de vida de crianças nascidas prematuras

Abstract Objective: To perform a longitudinal investigation of risk factors in premature infants' cognitive, motor, and language development. Methods: Thirty-three preterm infants were assessed at 4, 8, and 12 months of corrected age, using the Bayley-III Scales. Parents completed questionnaires regarding development opportunities at home, parenting practices and knowledge. Results: Significant associations were found (1) at 4-months between cognitive scores and family income, variety of stimuli, availability of toys, parenting practices and knowledge; language and parenting practices; and motor skills and parenting practices; (2) at 8-months between cognitive score and length of stay in the Neonatal Intensive Care Unit (NICU), gestational age, birth weight, toys, and parenting knowledge; language and toys; and motor skills and toys and parenting knowledge; (3) at 12-months between cognitive scores and length of stay in the NICU, family income, breastfeeding, toys, and parenting knowledge; language and income and toys; and motor scores and length of stay in the NICU, gestational age, income, stimuli, toys, and parenting knowledge. Regression analyses indicated that: for (1) cognitive development, stimulus variety explained 72% of the model variance at 4 months of age; time at the NICU explained 67 and 43% at 8 and 12 months of age, respectively, and breastfeeding time explained 41% of the model variance at 12 months; (2) for language development, family income explained 42% of the model variance at 12 months; and for motor development (3), time at the NICU explained 80% of the model variance at 12 months. Conclusions: The development over the first year of life is not explained by the severity of birth conditions and associated morbidities only, but also by parenting practices.

RESUMO Objetivo: Investigar longitudinalmente os fatores de risco no desenvolvimento cognitivo, motor e de linguagem de prematuros. Métodos: Participaram 33 crianças prematuras avaliadas aos quatro, oito e 12 meses de idade corrigida, com as escalas Bayley III. Os pais completaram questionários referentes às oportunidades do lar, práticas e conhecimento parentais. Resultados: Associações significantes foram encontradas: (1) aos quatro meses, entre os escores cognitivos e renda familiar, variedade de estímulos, disponibilidade de brinquedos, práticas e conhecimento parental; e linguagem e motor com conhecimento parental; (2) aos oito meses, entre os escores cognitivos e tempo de Unidade de Terapia Intensiva (UTI), idade gestacional, peso ao nascer, brinquedos e conhecimento parental; linguagem e brinquedos; e motor e brinquedos e conhecimento parental; (3) aos 12 meses, entre os escores cognitivos com o tempo de UTI, renda, meses de amamentação, brinquedos e conhecimento parental; linguagem e renda e brinquedos; e motor e idade gestacional, tempo de UTI, renda, estimulação, brinquedos e conhecimento parental. Análises de regressão indicaram que: para o desenvolvimento (1) cognitivo, a variedade de estímulos explicou 72% da variância do modelo aos quatro meses; o tempo de UTI explicou 67 e 43% aos oito e 12 meses respectivamente, e o tempo de amamentação explicou 41% da variância do modelo aos 12 meses; (2) para o desenvolvimento da linguagem, a renda familiar explicou 42% da variância do modelo aos 12 meses; e para o desenvolvimento (3) motor, o tempo de UTI explicou 80% da variância do modelo aos 12 meses. Conclusões: O desenvolvimento no primeiro ano de vida não é explicado apenas pela gravidade ao nascer e pelas morbidades clínicas associadas, mas também pelas práticas parentais.

Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report / Manifestações oftalmológicas da Síndrome de Schuurs-Hoeijmakers: relato de caso

ABSTRACT This is a case report of a 2-year-old male patient with cognitive delay, facial abnormalities, and microcornea in the right eye, who was referred for ophthalmological investigation. The initial ophthalmological examination revealed hypertelorism, epicanthus, nystagmus, esotropia, and microcornea in the right eye. The examination under anesthesia revealed microphthalmia in the right eye, and iris, retina, and optic nerve coloboma in both eyes. Whole exome sequencing revealed evidence of a heterozygotic pathogenic variant in PACS1. The PACS1 pathogenic variant in association with the clinical findings confirmed the diagnosis of Schuurs-Hoeijmakers syndrome. To our knowledge, this is the first report to describe microcornea and microphthalmia as additional ocular manifestations of Schuurs-Hoeijmakers syndrome.

RESUMO Trata-se de um relato de caso de um paciente do sexo masculino de 2 anos de idade com atraso cognitivo, anormalidades faciais e microcórnea no olho direito encaminhado para investigação oftalmológica. O exame oftalmológico inicial evidenciou hipertelorismo, epicanto, nistagmo, esotropia e microcórnea no olho direito. O exame sob anestesia revelou microftalmia no olho direito e coloboma de íris, retina e nervo óptico em ambos os olhos. Foi realizado sequenciamento completo do exoma que mostrou uma variante patogênica heterozigótica no PACS1. A variante patogênica no PACS1 em associação com os achados clínicos apresentados confirmou o diagnóstico da síndrome de Schuurs-Hoeijmakers). Acredita-se este seja o estudo a descrever microcórnea e microftalmia como manifestações oculares adicionais da síndrome de Schuurs-Hoeijmakers.

Arc's Self-Determination Scale: Adaptação e Validação à População Adolescente e Adulta Portuguesa com DID / Arc's Self-Determination Scale: Adaptation and Validation to the Portuguese Adolescent and Adult Population with IDD

RESUMO: No atual contexto português, é ainda visível a generalizada dificuldade em obter instrumentos de avaliação adaptados à população com Dificuldades Intelectuais e Desenvolvimentais (DID) que avaliem o constructo da autodeterminação. Nesse sentido, este artigo tem por objetivo a adaptação e a validação da Arc's Self-Determination Scale à população adolescente e adulta portuguesa com DID. Para esse efeito, foram seguidas as recomendações internacionais inerentes a processos dessa natureza, culminando em uma avaliação de 11 peritos para a evidência quantitativa da validade de conteúdo. Todos os itens dessa escala foram considerados como relevantes ou muito relevantes (n=72), tendo-se obtido acordos moderados (k>.40) e excelentes (k>.75) entre os peritos no cálculo do Kappa de Cohen. A amostra foi constituída por 500 indivíduos adolescentes e adultos entre 16 e 70 anos de idade (24.03±9.15), sendo 256 do género feminino e 244 do género masculino com e sem DID. A escala apresentou uma excelente consistência interna (α=.89), com tendência para correlações fracas a moderadas (.01>r<.51). Os procedimentos inerentes à validade de constructo são, igualmente, apresentados e discutidos. Os principais resultados parecem apontar a ideia de que o instrumento em estudo apresenta as características de validade e de fiabilidade necessárias para que possa ser utilizado em nível nacional.

ABSTRACT: In the current Portuguese context, the generalized difficulty in obtaining assessment instruments adapted to the population with Intellectual and Developmental Difficulties (IDD) that evaluate the construct of self-determination is still visible. In this sense, this paper aims to adapt and validate the Arc's Self-Determination Scale to the Portuguese adolescent and adult population with IDD. To this end, it was considered the international guidelines in cross-cultural adaptation process, culminating with an evaluation of 11 experts for the quantitative evidence of the content validity. All items of this scale were considered as relevant or very relevant (n=72) and there was a moderated (k>.40) and an excellent agreement (k>.75) among the experts in the calculation of Cohen's Kappa. The sample comprised 500 adolescents/adults, aged between 16 and 70 years-old (24.03±9.15), 256 females and 244 males with and without IDD. The scale showed an excellent internal consistency (α=.89) and weak to moderate correlations between sections (.01>r<.51). The procedures inherent to the validity of construct are also presented and discussed. The main results seem to point out the idea that the instrument under study presents the characteristics of validity and reliability required so that it can be used at the national level.

Baby Care Tech: validação de um aplicativo móvel para a família sobre os cuidados com o bebê pré-termo dependente de tecnologia / Baby Care Tech: validation of a mobile app for the family on caring for the technology-dependent preterm baby

Introdução: A prematuridade é a principal causa de morte em recém-nascidos, sendo um problema de saúde global. Os avanços tecnológicos na saúde contribuem para o aumento da sobrevida de bebês cada vez mais imaturos e, associado a este avanço há um aumento de dependência de tecnologias permanentes ou temporárias por estes bebês para auxílio da sobrevida ou qualidade de vida. Visto isso, sabe-se da importância da presença precoce dos pais nas unidades neonatais e da educação destes para os posteriores cuidados domiciliares de seus filhos pautados no conhecimento e garantia de assertividade. Objetivo: Validar o conteúdo e a aparência de um aplicativo móvel para a família sobre o cuidado do bebê pré-termo com necessidades especiais e dependente de tecnologia. Método: Trata-se de um estudo metodológico, aplicado, que segue os preceitos do método do Design Instrucional Construtivista e aprendizagem significativa de Ausubel para a validação de conteúdo e aparência do aplicativo móvel por profissionais enfermeiros experts na temática e tecnologia educacional, bem como, o próprio usuário final, que avaliou de forma dinâmica, os cuidados aos dispositivos como colostomia, gastrostomia, sonda enteral, cateter de oxigênio e traqueostomia. Para isso, implementou-se ao aplicativo móvel Baby Care Tech multimeios e textos organizados em 145 telas que abordam os cuidados diários como manutenção, higiene e monitorização, até sinais de alerta e possíveis problemas que o bebê possa apresentar. A coleta de dados ocorreu no período de maio a junho de 2021 e participaram 25 profissionais e seis usuários finais preenchendo o instrumento do Mobile Learning Evaluation (Mo-LEva) com 59 questões para profissionais e utilizou-se o instrumento avaliativo The Suitability Assessment of Material (SAM) com 17 questões para a família. Resultados: Deu-se a validação de conteúdo e aparência já na primeira rodada de avaliação pelos profissionais com as 59 (100%) questões avaliadas com nota acima de 80 e IVC ≥ 0,80 e junto ao usuário final avaliação ótima em 15 (88,2%) itens avaliados e avaliação adequada para dois (11,8%) quesitos avaliados. Conclusão: O aplicativo móvel apresenta-se validado em seu conteúdo e aparência e assim, tem potencial para auxiliar profissionais de saúde nas atividades de educação em saúde junto à clientela acerca da temática, bem como, famílias de bebê prematuros dependentes de tecnologia, com linguagem adequada e multimeios que podem potencializar sua aprendizagem e autonomia no cuidado adequado pós-alta da criança

Introduction: Prematurity is the main cause of death in newborns, being a global health problem. Technological advances in health contribute to the increase in the survival of increasingly immature babies and, associated with this advance, there is an increase in dependence on permanent or temporary technologies by these babies to aid survival or quality of life. In view of this, it is known the importance of the early presence of parents in neonatal units and their education for later home care for their children. Objective: To validate the content and appearance of a mobile application for the family about the care of the preterm baby with special needs and technology dependent. Method: This is a methodological, applied study that follows the precepts of the Constructi-view Instructional Design method and Ausubel's significant learning for the validation of content and appearance of the mobile application by professional nurses who are experts in the subject and educational technology, as well as the end user himself, who dynamically evaluated the care of devices such as colostomy, gastrostomy, enteral tube, oxygen catheter and tracheostomy. For this, the Baby Care Tech mobile application was implemented with multimedia and texts organized in 145 screens that address daily care such as maintenance, hygiene and monitoring, even warning signs and possible problems that the baby may present. Data collection took place from May to June 2021, and 25 professionals and six end users participated by filling out the Mobile Learning Evaluation (MoLEva) instrument with 59 questions for professionals and using the evaluative instrument The Suitability Assessment of Material (SAM) with 17 questions for the family. Results: Validation of content and appearance took place in the first round of evaluation by professionals with 59 (100%) questions evaluated with a score above 80 and CVI ≥ 0.80 and with the end user an excellent evaluation in 15 (88,2%) evaluated items and adequate evaluation for two (11.8%) evaluated items. Conclusion: The mobile application is validated in its content and appearance and thus has the potential to assist health professionals in health education activities with the clientele on the subject, as well as families of premature babies pending technology, with adequate language and multimedia that can enhance their learning and autonomy in the proper post-discharge care of the child

Baby Care Tech: validação de um aplicativo móvel para a família sobre os cuidados com o bebê pré-termo dependente de tecnologia / Baby Care Tech: validation of a mobile app for the family on caring for the technology-dependent preterm baby

Introdução: A prematuridade é a principal causa de morte em recém-nascidos, sendo um problema de saúde global. Os avanços tecnológicos na saúde contribuem para o aumento da sobrevida de bebês cada vez mais imaturos e, associado a este avanço há um aumento de dependência de tecnologias permanentes ou temporárias por estes bebês para auxílio da sobrevida ou qualidade de vida. Visto isso, sabe-se da importância da presença precoce dos pais nas unidades neonatais e da educação destes para os posteriores cuidados domiciliares de seus filhos pautados no conhecimento e garantia de assertividade. Objetivo: Validar o conteúdo e a aparência de um aplicativo móvel para a família sobre o cuidado do bebê pré-termo com necessidades especiais e dependente de tecnologia. Método: Trata-se de um estudo metodológico, aplicado, que segue os preceitos do método do Design Instrucional Construtivista e aprendizagem significativa de Ausubel para a validação de conteúdo e aparência do aplicativo móvel por profissionais enfermeiros experts na temática e tecnologia educacional, bem como, o próprio usuário final, que avaliou de forma dinâmica, os cuidados aos dispositivos como colostomia, gastrostomia, sonda enteral, cateter de oxigênio e traqueostomia. Para isso, implementou-se ao aplicativo móvel Baby Care Tech multimeios e textos organizados em 145 telas que abordam os cuidados diários como manutenção, higiene e monitorização, até sinais de alerta e possíveis problemas que o bebê possa apresentar. A coleta de dados ocorreu no período de maio a junho de 2021 e participaram 25 profissionais e seis usuários finais preenchendo o instrumento do Mobile Learning Evaluation (Mo-LEva) com 59 questões para profissionais e utilizou-se o instrumento avaliativo The Suitability Assessment of Material (SAM) com 17 questões para a família. Resultados: Deu-se a validação de conteúdo e aparência já na primeira rodada de avaliação pelos profissionais com as 59 (100%) questões avaliadas com nota acima de 80 e IVC ≥ 0,80 e junto ao usuário final avaliação ótima em 15 (88,2%) itens avaliados e avaliação adequada para dois (11,8%) quesitos avaliados. Conclusão: O aplicativo móvel apresenta-se validado em seu conteúdo e aparência e assim, tem potencial para auxiliar profissionais de saúde nas atividades de educação em saúde junto à clientela acerca da temática, bem como, famílias de bebê prematuros dependentes de tecnologia, com linguagem adequada e multimeios que podem potencializar sua aprendizagem e autonomia no cuidado adequado pós-alta da criança.

Introduction: Prematurity is the main cause of death in newborns, being a global health problem. Technological advances in health contribute to the increase in the survival of increasingly immature babies and, associated with this advance, there is an increase in dependence on permanent or temporary technologies by these babies to aid survival or quality of life. In view of this, it is known the importance of the early presence of parents in neonatal units and their education for later home care for their children. Objective: To validate the content and appearance of a mobile application for the family about the care of the preterm baby with special needs and technology dependent. Method: This is a methodological, applied study that follows the precepts of the Constructi-view Instructional Design method and Ausubel's significant learning for the validation of content and appearance of the mobile application by professional nurses who are experts in the subject and educational technology, as well as the end user himself, who dynamically evaluated the care of devices such as colostomy, gastrostomy, enteral tube, oxygen catheter and tracheostomy. For this, the Baby Care Tech mobile application was implemented with multimedia and texts organized in 145 screens that address daily care such as maintenance, hygiene and monitoring, even warning signs and possible problems that the baby may present. Data collection took place from May to June 2021, and 25 professionals and six end users participated by filling out the Mobile Learning Evaluation (MoLEva) instrument with 59 questions for professionals and using the evaluative instrument The Suitability Assessment of Material (SAM) with 17 questions for the family. Results: Validation of content and appearance took place in the first round of evaluation by professionals with 59 (100%) questions evaluated with a score above 80 and CVI ≥ 0.80 and with the end user an excellent evaluation in 15 (88,2%) evaluated items and adequate evaluation for two (11.8%) evaluated items. Conclusion: The mobile application is validated in its content and appearance and thus has the potential to assist health professionals in health education activities with the clientele on the subject, as well as families of premature babies pending technology, with adequate language and multimedia that can enhance their learning and autonomy in the proper post-discharge care of the child.

Neonatal Adverse Outcomes, Neonatal Birth Risks, and Socioeconomic Status: Combined Influence on Preterm Infants' Cognitive, Language, and Motor Development in Brazil.

BACKGROUND: This study extended previous research by investigating the combined effects of neonatal birth risks, neonatal adverse outcomes, and socioeconomic status on preterm neurodevelopment. METHOD: A total of 184 preterm infants were assessed using the Bayley Scales of Infant Development III in a follow-up clinic in southern Brazil. Structural equation modeling was conducted with 3 latent variables (neonatal birth risks, neonatal adverse outcomes, and socioeconomic status) and 3 outcomes (cognitive, language, and motor development). RESULTS: The analyses showed that neonatal adverse outcomes were associated with infants' cognitive (b = -0.45, P < .001), language (b = -0.23, P = .001), and motor (b = -0.51, P < .001) development. Socioeconomic status also explained the variances (cognitive: b = 0.20, P = .006; language: b = 0.28, P = .001; and motor: b = 0.21, P = .004), whereas neonatal birth risks remained significant only in the motor development (b = 0.15, P = .040). CONCLUSION: This study suggests that the most evident contributors to poor neurodevelopment were adverse outcomes and socioeconomic risk factors.

Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease.

Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase. In addition to the severe infantile form with cardiac involvement, late-onset variants can affect older children, adolescents (aged >1 year old) or adults. Patients with juvenile (a subgroup of late-onset type) Pompe disease typically do not have cardiac alterations e.g. hypertrophic cardiomyopathy, and the diagnosis is often difficult because it can clinically resemble myriad other neuromuscular disorders. A high level of clinical suspicion is necessary for a timely and accurate diagnosis. We describe 3 interesting cases of patients with juvenile-onset Pompe disease who presented some uncommon clinical features e.g. skeletal alterations and developmental delay, and describe a new genetic variant. Juvenile-onset Pompe disease may be accompanied by uncommon clinical signs that could delay the diagnosis of Pompe disease due to the global pictures resembling other metabolic disorders.

Risk of Developmental Disorders in Children of Immigrant Mothers: A Population-Based Data Linkage Evaluation.

OBJECTIVES: To evaluate the prevalence and risks of developmental disability (autism spectrum disorder, intellectual disability, and cerebral palsy) in Western Australian children of different groups of foreign-born women. STUDY DESIGN: Western Australian population-based linked data of 764 749 singleton live births from 1980 to 2010 were used to compare disability outcomes among children of foreign-born, Australian-born non-Indigenous, and Indigenous women. The risk of disability was assessed using multinomial logistic regression. RESULTS: Overall, the prevalence of any disability was lowest for the children of foreign-born mothers. From 1980 to 1996 but not from 1997 to 2010, children born to mothers from foreign-born low-income countries had an increased relative risk of autism spectrum disorder with intellectual disability, and children born to foreign-born mothers from upper-middle-income countries had an increased risk of cerebral palsy with intellectual disability. After adjusting for smoking, the relative risks of intellectual disability and cerebral palsy with intellectual disability were markedly decreased in children of Australian-born Indigenous mothers. CONCLUSIONS: Although we did not find among children born to foreign-born women an increased prevalence across all the measured developmental outcomes, we did observe an increased risk of autism spectrum disorder with intellectual disability and cerebral palsy with intellectual disability for mothers of some foreign-born groups. Our findings related to smoking in the Indigenous population underscore its possible role on the causal pathway to intellectual disability. Maternal migration is considered a factor on the causal pathway to intellectual disability. Maternal migration may be either a risk or a protective factor on the causal pathway to developmental disabilities and the direct role of migration is inconclusive in our study.

Adaptación de la escala integral de calidad de vida en personas con discapacidad intelectual y del desarrollo en población Chilena / Adjustment of the integral scale of life quality in persons with intellectual disability and the development in Chilean population

El objetivo de esta investigación fue examinar la confiabilidad y validez de la Escala Integral de Calidad de Vida para población con discapacidad intelectual y del desarrollo, en población chilena. Este es uno de los principales instrumentos empleados para evaluar la calidad de vida en esta población desde una doble perspectiva objetiva, completada por los profesionales a cargo, y subjetiva administrada a los propios sujetos. Para ello, han participado 751 estudiantes y 82 profesionales. Los principales resultados demuestran que existe una adecuada fiabilidad del instrumento en población chilena y la estructura factorial es totalmente congruente con la versión española. Los resultados confirman que la Escala Integral es un instrumento válido y con una óptima fiabilidad en población chilena para evaluar la calidad de vida de personas con discapacidad intelectual y del desarrollo.

This paper aims to evaluate the reliability and validity of the Integral Quality of Life Scale in people with intellectual and developmental disability in the Chilean people. That is a principal instrument to evaluate the quality of life in this collective from subjective and objective vision. For this, 751 students have participated and 82 professionals. The main results show that there is adequate instrument reliability and factorial Chilean population structure is fully consistent with the Spanish version. The results confirm that the Integral Scale is a valid and optimum reliability instrument in Chilean population to assess the quality of life for people with intellectual and developmental disabilities.

Current knowledge of environmental exposure in children during the sensitive developmental periods / O estado atual do conhecimento sobre a exposição ambiental no organismo infantil durante os períodos sensíveis de desenvolvimento

Abstract: Objective: This study aims to identify the scientific evidence on the risks and effects of exposure to environmental contaminants in children during sensitive developmental periods. Data source: The search was performed in the Bireme database, using the terms: children's health, environmental exposure, health vulnerability, toxicity pathways and developmental disabilities in the LILACS, MEDLINE and SciELO systems. Data synthesis: Children differ from adults in their unique physiological and behavioral characteristics and the potential exposure to risks caused by several threats in the environment. Exposure to toxic agents is analyzed through toxicokinetic processes in the several systems and organs during the sensitive phases of child development. The caused effects are reflected in the increased prevalence of congenital malformations, diarrhea, asthma, cancer, endocrine and neurological disorders, among others, with negative impacts throughout adult life. Conclusion: To identify the causes and understand the mechanisms involved in the genesis of these diseases is a challenge for science, as there is still a lack of knowledge on children's susceptibility to many environmental contaminants. Prevention policies and more research on child environmental health, improving the recording and surveillance of environmental risks to children's health, should be an ongoing priority in the public health field.

Resumo: Objetivo: O presente estudo busca identificar as evidências científicas sobre os riscos e efeitos da exposição de contaminantes ambientais no organismo infantil durante os períodos sensíveis de seu desenvolvimento. Fonte de dados: As pesquisas foram feitas pelo banco de dados da Bireme, com os termos children's health, environmental exposure, health vulnerability, toxicity pathways e developmental disabilities nos sistemas Lilacs, Medline e SciELO. Síntese de dados: A criança difere do adulto por suas características singulares de ordem fisiológica, comportamental e do potencial de exposição a riscos frente às ameaças do ambiente. A exposição a agentes tóxicos é analisada por meio dos processos toxicocinéticos nos sistemas e órgãos durante as janelas sensíveis do desenvolvimento infantil. Os efeitos causados transparecem no aumento da prevalência de malformações congênitas, diarreia, asma, cânceres, distúrbios endócrinos e neurológicos, entre outros, com impactos negativos ao longo da vida adulta. Conclusão: Identificar as causas e compreender os mecanismos envolvidos na gênese desses agravos é um desafio que se impõe à ciência, visto que ainda há uma lacuna de conhecimento sobre a suscetibilidade infantil para muitos contaminantes ambientais. Políticas de prevenção e mais pesquisas em saúde ambiental infantil, que impulsionem o registro e a vigilância epidemiológica dos riscos ambientais à saúde da criança, devem ser uma prioridade contínua no campo da saúde pública.

Current knowledge of environmental exposure in children during the sensitive developmental periods.

OBJECTIVE: This study aims to identify the scientific evidence on the risks and effects of exposure to environmental contaminants in children during sensitive developmental periods. DATA SOURCE: The search was performed in the Bireme database, using the terms: children's health, environmental exposure, health vulnerability, toxicity pathways and developmental disabilities in the LILACS, MEDLINE and SciELO systems. DATA SYNTHESIS: Children differ from adults in their unique physiological and behavioral characteristics and the potential exposure to risks caused by several threats in the environment. Exposure to toxic agents is analyzed through toxicokinetic processes in the several systems and organs during the sensitive phases of child development. The caused effects are reflected in the increased prevalence of congenital malformations, diarrhea, asthma, cancer, endocrine and neurological disorders, among others, with negative impacts throughout adult life. CONCLUSION: To identify the causes and understand the mechanisms involved in the genesis of these diseases is a challenge for science, as there is still a lack of knowledge on children's susceptibility to many environmental contaminants. Prevention policies and more research on child environmental health, improving the recording and surveillance of environmental risks to children's health, should be an ongoing priority in the public health field.

Parental perceptions of barriers to physical activity in children with developmental disabilities living in Trinidad and Tobago.

BACKGROUND: Parents have a strong influence on their child's engagement in physical activities, especially for children with developmental disabilities, as these children are less likely to initiate physical activity. Knowledge is limited regarding parents' perceptions of this phenomenon in low- and middle-income countries (LMICs); yet many rehabilitation providers work with children with developmental disabilities and their parents in these contexts. PURPOSE: The aim of this study was to explore the barriers perceived by parents of children with developmental disabilities to their children's engagement in physical activity. METHODS: An occupational perspective was used to explore how parents speak about barriers to their child's engagement in physical activity. Interviews were conducted with nine parents in Port-of-Spain, Trinidad and Tobago. FINDINGS: Parent's perceived barriers were categorized into four themes: family priorities, not an option in our environment, need to match the activity to the child's ability, and need for specialized supports. CONCLUSIONS: FINDINGS provide opportunities for future rehabilitation and community programming in LMICs. Implications for Rehabilitation Children living with a developmental disability may engage more in solitary and sedentary pursuits as a result of parents choosing activities that do not present extensive social and physical demands for their child. Therapists can play an important role in providing knowledge to parents of appropriate physical activity and the benefits of physical activity for children with developmental disabilities in order to promote children's participation. In environments where there is limited social support for families, therapists need to consider and be particularly supportive of parental priorities and schedules.

Efectos de la estimulación del neurodesarrollo en niños con antecedentes de encefalopatía hipóxico isquémica / The Effects of Neurodevelopmental Stimulation in Children with a History of Hypoxic Ischemic Encephalopathy / Efeitos da estimulaçÃo do neurodesenvolvimento em crianças com antecedentes de encefalopatia hipóxico isquêmica

Objetivo. Los efectos de la encefalopatía hipóxica isquémica en los recién nacidos pueden reflejarse en el deficiente desarrollo de patrones motores elementales que son el origen de la psicomotricidad. En este estudio se tuvo como objetivo establecer la efectividad de un procedimiento de evaluación e intervención, que precisara el tipo de desorganización motora asociada a este padecimiento. Método. Se evaluaron 15 niños con hipoxia, utilizando la Escala de evaluación del desarrollo cinesiológico de Vojta y la Escala de estimación del desarrollo psicomotor de Hellbrügge, con los que se pudieron identificar tres tipos de desorganización motora: patrón motor de tipo hipotónico/hipoquinético, patrón motor hiperexcitable y patrón motor rígido. Se elaboró un programa de corrección basado en los principios de estimulación vestibular y propioceptiva para activar posturas y posiciones humanas específicas y reducir la expresividad de los tipos identificados. Resultados. Después de ocho meses de tratamiento se identificaron cambios en la organización motriz como resultado de la aplicación del programa de corrección (t(15) = 8.37, p < 0.000). Discusión. Se discute la importancia del diseño de estrategias de intervención temprana para disminuir la manifestación de alguna discapacidad que en el futuro pudiera manifestarse.

Objective. Hypoxic encephalopathy effects in newborn children can be reflected in the inappropriate development of motor patterns that are the cornerstone of psychomotor activity. The main objective of this study was to systematize an assessment-intervention procedure in order to detect different types of motor. Method. 15 children were evaluated using Vojta and Hellbrügge scales. Three types of motor deviation were identified: hypotonic/hypokinetic motor pattern, hyperexcitable motor pattern and rigid motor pattern. A program for correction was subsequently drawn up, based on the principles of vestibular and proprioceptive stimulation to activate specific human postures and positions and reduce the identified motor deviations. Results. After 8 months of the treatment significant changes were detected in the organization of, after the application of the motor program (t(15) = 8.37, p <0.0001). Discussion. These results showed the necessity of the precise design of intervention procedures at an early age for the prevention of the occurrence of any disability.

Escopo. Os efeitos da encefalopatia hipóxico isquêmica nos recém nascidos podem se reflexar no deficiente desenvolvimento de patrões motores elementares que sÃo o origem da psicomotricidade. Em este estudo o escopo foi estabelecer a efetividade de um procedimento de avaliaçÃo e intervençÃo, que precisara o tipo de desorganizaçÃo motora associada a este padecimento. Metodologia. Foram avaliadas 15 crianças usando a Escada de avaliaçÃo do desenvolvimento cinesiolôgico de Vojta e Escada de estimaçÃo do desenvolvimento psicomotor de Hellbrugge, com os que se pode identificar três tipos de desorganizaçÃo motora: patrÃo motor de tipo hipotônico/hipoquinético, patrÃo motor hiperexcitável e patrÃo motor rígido. Depois foi feito um programa de correçÃo baseado nos princípios de estimulaçÃo vestibular e proprioceptiva para ativar as posturas e posiciones humanas específicas e reduzir os tipos de dificuldades motoras identificadas. Resultados. Depois de 8 meses de tratamento foram identificadas mudanças na organizaçÃo motora das como resultado da aplicaçÃo do programa de correçÃo (t(15) = 8.367, p < 0.0001). DiscussÃo. Foi discutida a importância do desenho de estratégias de intervençÃo precoce para diminuir a manifestaçÃo de qualquer possível incapacidade que no futuro possa se manifestar.

Relação entre crimes sexuais e transtornos mentais e do desenvolvimento: uma revisão / Relationship between sexual offences and mental and developmental disorders: a review

CONTEXTO: A violência sexual é um grave problema de saúde pública que preocupa e confronta nossa sociedade. A prevalência, a magnitude e as consequências desse problema têm merecido atenção crescente por parte de estudiosos e pesquisadores da saúde e dos direitos humanos. OBJETIVO: Realizar uma revisão bibliográfica sobre a relação entre crimes sexuais e transtornos mentais e do desenvolvimento. MÉTODOS: Foi realizada uma pesquisa bibliográfica nas bases de dados do PubMed, Scientific Eletronic Library Online (SciELO) e Lilacs, utilizando os descritores "sexual crime", "sexual offense", "mental disorder", "mental retardation", "developmental disability" e suas combinações. RESULTADOS: Os transtornos mentais e do desenvolvimento mais frequentemente relacionados à perpetração de crimes sexuais foram esquizofrenia, transtorno bipolar e retardo mental. CONCLUSÃO: São importantes a detecção e o tratamento da morbidade psiquiátrica entre ofensores sexuais nos sistemas de saúde e de justiça criminal, o que pode contribuir para menor risco de reincidência desse comportamento sexual.

BACKGROUND: Sexual violence is a serious public health problem that concerns and faces our society. The prevalence, magnitude and consequences of this problem have merited growing attention by health researchers and human rights scholars. OBJECTIVE: To conduct a review of the literature regarding the relationship between mental disorders, sexual offences and those of development. METHODS: A bibliographic research was performed in PubMed, Scientific Electronic Library Online (SciELO) and Lilacs, employing the terms "sexual crime", "sexual offence", "mental disorder", "mental retardation", "developmental disability" and its combinations. RESULTS: The mental disorders and developmental disorders more frequently related to the perpetration of sexual offences were schizophrenia, bipolar disorder and mental retardation. DISCUSSION: The detection and treatment of psychiatric morbidity among sexual offenders in health and criminal justice systems, which may contribute to a lower risk of recidivism of this sexual behaviour, is important.

Calidad de vida en familias con un integrante con discapacidad severa del desarrollo en Cutral-Có y Plaza Huincul (Neuquén, Argentina) / Quality of life in families with a member with severe developmental disability in Cutral-Có and Plaza Huincul (Neuquén, Argentina)

OBJETIVO: Analizar la calidad de vida de las familias con al menos un integrante con discapacidad severa del desarrollo en las comunidades de Cutral Có y Plaza Huincul (Neuquén, Argentina).METODOS: Se realizó un estudio descriptivo. Se invitó a las familias objeto del estudio a participar de una encuesta, llevada a cabo en sus domicilios. Allí se administró una serie de preguntas de caracterización sociodemográfica de la persona con discapacidad y su familia, y se confeccionó un familiograma, la Escala de Nivel Socioeconómico 2006 y la Escala Latinoamericana de Calidad de Vida. Se realizó una georreferencia de los domicilios visitados, clasificándolos con colores según su nivel socioeconómico, y se elaboró un diario de campo por cada familia. Las familias encuestadas fueron invitadas a participar de un trabajo de grupos focales, en los cuales tuvieron oportunidad de observar los resultados del estudio y opinar sobre ellos.RESULTADOS: La población mostró una alta prevalencia de características asociadas a la vulnerabilidad social, tales como pobreza, marginación, exclusión, madres solas y padres adultos mayores con la carga exclusiva del cuidado, e incluso personas con discapacidad severa del desarrollo (PDSD) sin familia, en una situación de irreversible institucionalización. Los resultados de calidad de vida fueron mejores a los esperados, debido a diversas estrategias adoptadas por las familias para enfrentar la adversidad en un contexto social particular como el de las comunidades de Cutral Có y Plaza Huincul.CONCLUSIONES: El conocimiento generado con este trabajo puede constituir un aporte valioso para el diseño y la planificación de apoyos a las PCDSD y sus familias por parte de diversos actores sociales: gobierno, organizaciones de la sociedad civil, empresas, instituciones de salud, educación y justicia, y sobre todo, las propias familias.

OBJECTIVE: To analyze the quality of life in families with at least one member with severe developmental disability in the communities of Cutral Có and Plaza Huincul (Neuquén, Argentina)METHODS: A descriptive study was conducted. The families were invited to respond to a survey in their houses. It consisted in a series of questions regarding sociodemographic characteristics of the disabled person and the families. It also included a familiogram, the Socio-Economic Level Scale 2006, and the Latin American Quality of Life scale. Each visited house was located in a map with different colors according to the socio-economic level. A field diary was also filled for each family. The surveyed families were invited to take part in a focus group, where they observed the results of the study and gave an opinion about them.RESULTS: The population showed a high prevalence of vulnerability features such as poverty, social exclusion, marginalization, lonely mothers and old parents alone with the burden of care, and even people with severe developmental disability (PSDD) without family, with no other choice than living in a mental institution. The results regarding quality of life were better than expected, due to diverse strategies implemented by the families in order to deal with adversity in a particular social context like the one of Cutral Có and Plaza Huincul community.CONCLUSIONS: The knowledge obtained through this study may contribute to design and plan supports for disabled persons and their families. Different social actors (government, civil society organizations, companies, health, education and justice institutions, and especially the families themselved) may use these results for that purpose.

Calidad de vida en familias con un integrante con discapacidad severa del desarrollo en Cutral-Có y Plaza Huincul (Neuquén, Argentina) / Quality of life in families with a member with severe developmental disability in Cutral-Có and Plaza Huincul (Neuquén, Argentina)

OBJETIVO: Analizar la calidad de vida de las familias con al menos un integrante con discapacidad severa del desarrollo en las comunidades de Cutral Có y Plaza Huincul (Neuquén, Argentina).METODOS: Se realizó un estudio descriptivo. Se invitó a las familias objeto del estudio a participar de una encuesta, llevada a cabo en sus domicilios. Allí se administró una serie de preguntas de caracterización sociodemográfica de la persona con discapacidad y su familia, y se confeccionó un familiograma, la Escala de Nivel Socioeconómico 2006 y la Escala Latinoamericana de Calidad de Vida. Se realizó una georreferencia de los domicilios visitados, clasificándolos con colores según su nivel socioeconómico, y se elaboró un diario de campo por cada familia. Las familias encuestadas fueron invitadas a participar de un trabajo de grupos focales, en los cuales tuvieron oportunidad de observar los resultados del estudio y opinar sobre ellos.RESULTADOS: La población mostró una alta prevalencia de características asociadas a la vulnerabilidad social, tales como pobreza, marginación, exclusión, madres solas y padres adultos mayores con la carga exclusiva del cuidado, e incluso personas con discapacidad severa del desarrollo (PDSD) sin familia, en una situación de irreversible institucionalización. Los resultados de calidad de vida fueron mejores a los esperados, debido a diversas estrategias adoptadas por las familias para enfrentar la adversidad en un contexto social particular como el de las comunidades de Cutral Có y Plaza Huincul.CONCLUSIONES: El conocimiento generado con este trabajo puede constituir un aporte valioso para el diseño y la planificación de apoyos a las PCDSD y sus familias por parte de diversos actores sociales: gobierno, organizaciones de la sociedad civil, empresas, instituciones de salud, educación y justicia, y sobre todo, las propias familias.

OBJECTIVE: To analyze the quality of life in families with at least one member with severe developmental disability in the communities of Cutral Có and Plaza Huincul (Neuquén, Argentina)METHODS: A descriptive study was conducted. The families were invited to respond to a survey in their houses. It consisted in a series of questions regarding sociodemographic characteristics of the disabled person and the families. It also included a familiogram, the Socio-Economic Level Scale 2006, and the Latin American Quality of Life scale. Each visited house was located in a map with different colors according to the socio-economic level. A field diary was also filled for each family. The surveyed families were invited to take part in a focus group, where they observed the results of the study and gave an opinion about them.RESULTS: The population showed a high prevalence of vulnerability features such as poverty, social exclusion, marginalization, lonely mothers and old parents alone with the burden of care, and even people with severe developmental disability (PSDD) without family, with no other choice than living in a mental institution. The results regarding quality of life were better than expected, due to diverse strategies implemented by the families in order to deal with adversity in a particular social context like the one of Cutral Có and Plaza Huincul community.CONCLUSIONS: The knowledge obtained through this study may contribute to design and plan supports for disabled persons and their families. Different social actors (government, civil society organizations, companies, health, education and justice institutions, and especially the families themselved) may use these results for that purpose.