RESUMEN
We integrated data from a newborn hearing screening database and a preschool disability database to examine the relationship between newborn click evoked auditory brainstem responses (ABRs) and developmental disabilities. This sample included children with developmental delay (n = 2992), speech impairment (SI, n = 905), language impairment (n = 566), autism spectrum disorder (ASD, n = 370), and comparison children (n = 128,181). We compared the phase of the ABR waveform, a measure of sound processing latency, across groups. Children with SI and children with ASD had greater newborn ABR phase values than both the comparison group and the developmental delay group. Newborns later diagnosed with SI or ASD have slower neurological responses to auditory stimuli, suggesting sensory differences at birth.
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Trastorno del Espectro Autista , Trastornos del Lenguaje , Humanos , Preescolar , Niño , Recién Nacido , Trastorno del Espectro Autista/diagnóstico , Potenciales Evocados Auditivos del Tronco Encefálico/fisiología , Discapacidades del Desarrollo/diagnóstico , Trastornos del Habla , Estimulación AcústicaRESUMEN
During the diagnostic process of developmental disorders in adults, diagnosticians often encounter diagnostic uncertainty. In this article, I describe how the holistic theory can be employed in this context in order to prevent diagnostic reductionism. A fictitious vignette illustrates the method.
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Discapacidades del Desarrollo , Salud Holística , Adulto , Humanos , Incertidumbre , Errores Diagnósticos/prevención & control , Discapacidades del Desarrollo/diagnóstico , Trastornos del Neurodesarrollo/diagnósticoRESUMEN
BACKGROUND: Developmental delay (DD) indicates a failure to meet the developmental milestones of most children of the same age. Studies based solely on the ICD coding manual may underestimate the prevalence of DD. Real-world use of rehabilitation data may be useful in the identification of more DD children previously undiagnosed with DD. AIM: The aim of this study is to estimate the prevalence of DD among children aged 0-6 by age and sex in Taiwan based on modified ICD codes. METHODS: A list of ICD codes specific to DD (including delays and disabilities requiring early intervention) was generated from the existing ICD codebook and modified based on National Health Insurance (NHI) claims data pertaining to developmental rehabilitation of children aged 0-6. The validity of the codes was subsequently assessed by DD experts in various fields using the consensus development technique. The resulting list was used to estimate the prevalence of DD among children in Taiwan from 2000 to 2015 based on analysis of longitudinal NHI data. RESULT: Between 2000 and 2015, the prevalence of DD among children aged 0 to 6 years increased from 2.0% to 5.7%, and the sex ratio was 181-197 males per 100 females. The prevalence estimate obtained in this study (5.6%) was 229% higher than existing government statistics (1.6%) published in 2014. CONCLUSIONS: The codes developed using claims data in this study can be used to estimate the prevalence of DD among children and evaluate the effectiveness of intervention programmes. Consistent increases in the prevalence of DD indicate that efforts to promote early intervention have been effective. Nonetheless, the low prevalence rate among 0-2 years children with developmental delay and low prevalence rate of female CWDD means that the policy should notice the lack of access to healthcare services for infants and female children and produce a more equitable or fair distribution of healthcare resources.
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Discapacidades del Desarrollo , Intervención Educativa Precoz , Niño , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/epidemiología , Femenino , Humanos , Lactante , Masculino , Programas Nacionales de Salud , Prevalencia , Taiwán/epidemiologíaRESUMEN
Cerebral folate transporter deficiency syndrome, caused by FOLR-1 mutations is characterized by late infantile onset, severe developmental regression, epilepsy, and leukodystrophy. An extremely low concentration of 5-methyltetrahydrofolate in the cerebrospinal fluid provides a crucial clue to its diagnosis and is a treatment target. Oral or intravenous folinic acid (5-formyltetrahydrofolate) administration improves clinical symptoms and brain magnetic resonance imaging (MRI) findings. We describe three siblings carrying a novel homozygous FOLR1 nonsense mutation, that were referred due to intractable epilepsy and progressive neurological decline. Brain MRI showed hypomyelination and cerebellar atrophy. Folinic acid (oral and intravenous) supplementation, initiated after over 15 years illness, has failed to result in any sizeable clinical or neurophysiological improvement. Cerebral folate transport deficiency bears overlapping clinical features with many severe developmental encephalopathies. It is crucial to recognize FOLR1 signs and establish an early clinical and molecular diagnosis in order to provide timely folinic acid treatment and improve outcome.
Asunto(s)
Receptor 1 de Folato/deficiencia , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Distrofias Neuroaxonales/diagnóstico , Distrofias Neuroaxonales/genética , Hermanos , Adolescente , Alelos , Encéfalo/diagnóstico por imagen , Encéfalo/efectos de los fármacos , Encéfalo/patología , Consanguinidad , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/genética , Manejo de la Enfermedad , Epilepsia/diagnóstico , Epilepsia/genética , Femenino , Receptor 1 de Folato/genética , Ácido Fólico/administración & dosificación , Pruebas Genéticas , Genotipo , Humanos , Imagen por Resonancia Magnética , Masculino , Mutación , Distrofias Neuroaxonales/terapia , Fenotipo , Síndrome , Resultado del TratamientoRESUMEN
Genomic testing for a genetic diagnosis is becoming standard of care for many children, especially those with a syndromal intellectual disability. While previously this type of specialised testing was performed mainly by clinical genetics teams, it is increasingly being 'mainstreamed' into standard paediatric care. With the introduction of a new Medicare rebate for genomic testing in May 2020, this type of testing is now available for paediatricians to order, in consultation with clinical genetics. Children must be aged less than 10 years with facial dysmorphism and multiple congenital abnormalities or have global developmental delay or moderate to severe intellectual disability. This rebate should increase the likelihood of a genetic diagnosis, with accompanying benefits for patient management, reproductive planning and diagnostic certainty. Similar to the introduction of chromosomal microarray into mainstream paediatrics, this genomic testing will increase the number of genetic diagnoses, however, will also yield more variants of uncertain significance, incidental findings, and negative results. This paper aims to guide paediatricians through the process of genomic testing, and represents the combined expertise of educators, clinical geneticists, paediatricians and genomic pathologists around Australia. Its purpose is to help paediatricians navigate choosing the right genomic test, consenting patients and understanding the possible outcomes of testing.
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Discapacidad Intelectual , Pediatría , Anciano , Australia , Niño , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/genética , Pruebas Genéticas , Genómica , Humanos , Discapacidad Intelectual/genética , Programas Nacionales de SaludRESUMEN
Introdução: A infância é um período da vida de grande transformação física, psíquica e social e como forma de prevenir enfermidades e promover o desenvolvimento saudável das crianças, as políticas de saúde vigentes no Brasil, estabelecem um acompanhamento longitudinal e com foco na atenção integral através da puericultura. Objetivo: Compreender a percepção e a prática do enfermeiro sobre a identificação dos sinais de risco/atraso do desenvolvimento em crianças acompanhadas durante a consulta de enfermagem em puericultura. Métodos: Estudo qualitativo, realizado com 12 enfermeiros que trabalham nas unidades de saúde da família de um distrito sanitário da cidade do Recife, entre janeiro e março de 2017. Para a coleta de dados foi empregada entrevista individual semiestruturada com o uso da gravação, sendo os mesmos submetidos à análise de conteúdo na modalidade temática. Resultados: A maioria das enfermeiras conhecia e utilizava a ficha de acompanhamento do desenvolvimento infantil proposta pelo Ministério da Saúde (MS) e inserida na caderneta da criança durante a consulta de puericultura, entretanto, a linguagem utilizada para definir os sinais de risco e atraso não é precisa. Porém, quando identificam alguma alteração no Crescimento e Desenvolvimento (CD) recorrem a equipe multiprofissional para acompanhamento dos casos. Considerações finais: O estudo permitiu perceber e discutir a importância da avaliação do desenvolvimento neuropsicomotor, destacando a enfermeira como agente essencial desse processo. Ficou demonstrado na prática das enfermeiras o conhecimento dos protocolos para o acompanhamento do CD, porém destacou-se que a falta de cumprimento e registro dos parâmetros/indica-dores de avaliação orientados pelo MS foi um fato dificultador para uma assistência integral, sem deixar de enxergar a família como aliada no cuidado à criança.
Introduction: Childhood is a period of life of great physical, psychological and social transformation and as a way to prevent diseases and promote the healthy development of children, the health policies in force in Brazil, establish a longitudinal monitoring and focusing on comprehensive care through childcare. Objective: Understand the nurse's perception and practice on the identification of signs of risk / delay in development in children monitored during the nursing consultation in childcare. Methods: Qualitative study, conducted with 12 nurses who work in family health units in a health district in the city of Recife, between January and March 2017. For data collection, a semi-structured individual interview was used with the use of the recording, the same being analyzed by the thematic content analysis. Results: Most nurses knew and used the child development monitoring form proposed by the Ministry of Health (MH) and inserted in the child's handbook during the pediatric consultation, however, the language used to defi ne the signs of risk and delay is not accurate. Yet, when they identify any change in Growth and Development (GD), they use the multidisciplinary team to monitor the cases. Conclusions: The study made it possible to perceive and discuss the importance of assessing neuropsychomotor development, highlighting the nurse as an essential agent of this process. It was demonstrated in the nurses' practice the knowledge of the protocols for the monitoring of the GD, however it was highlighted that the lack of compliance and registration of the parameters/evaluation indicators oriented by the MH was a hindering factor for comprehensive care, without fail to realize the family as an ally in child care.
Introducción: La infancia es un período de vida de gran transformación física, psicológica y social y, como una forma de prevenir enfermedades y promover el desarrollo saludable de los niños, las políticas de salud vigentes en Brasil establecen un monitoreo longitudinal y se centran en la atención integral a través de la puericultura. Objetivo: Comprender la percepción y práctica de la enfermera sobre la identificación de signos de riesgo/retraso en el desarrollo en niños monitoreados durante la consulta de enfermería en la puericultura. Métodos: Estudio cualitativo, realizado con 12 enfermeras que trabajan en unidades de salud familiar en un distrito de salud de la ciudad de Recife, entre enero y marzo de 2017. Para la recopilación de datos, se utilizó una entrevista individual semiestructurada con el uso de la grabación, siendo el mismo sometidos al análisis del contenido en la modalidad temática analizado por el método de interpretación de los sentidos. Resultados: La mayoría de las enfermeras conocían y usaban el formulario de monitoreo del desarrollo infantil propuesto por el Ministerio de Salud (MS) e insertado en el manual del niño durante la consulta pediátrica, sin embargo, el lenguaje utilizado para definir los signos de riesgo y retraso no es exacto. Sin embargo, cuando identifican cualquier cambio en el Crecimiento y Desarrollo (CD), utilizan el equipo multidisciplinario para monitorear los casos. Consideraciones finales: El estudio permitió percibir y discutir la importancia de evaluar el desarrollo neuropsicomotor, destacando a la enfermera como un agente esencial de este proceso. Se demostró en la práctica de las enfermeras el conocimiento de los protocolos para el monitoreo de la CD, sin embargo, se destacó que la falta de cumplimiento y registro de los parámetros/indicadores de evaluación orientados por el MS era un factor que obstaculizaba la atención integral, si no se dan cuenta de la familia como aliada en el cuidado infantil.
Asunto(s)
Humanos , Masculino , Femenino , Adulto , Adulto Joven , Enfermería Pediátrica , Cuidado del Niño , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/enfermería , Salud Infantil , Competencia Clínica , Entrevistas como Asunto , Investigación CualitativaRESUMEN
Relations between mind-mindedness (assessed using the describe-your-child interview) and stress were investigated in parents of children with developmental disorders (ADHD, n = 51, ASD, n = 23, Down's Syndrome, n = 38, and 22q11.2 Deletion Syndrome, 22q11.2DS, n = 32) and typically-developing children (n = 89). Mind-mindedness did not differ across diagnostic groups, and mind-mindedness predicted parenting stress across groups. Parenting stress was lowest in the typically-developing and Down's Syndrome groups. Across all groups, mind-minded and positive descriptions predicted lower parenting stress, and negative descriptions predicted higher stress. In the developmental disorder groups, describing the children with reference to their disorder was negatively correlated with mind-mindedness. Results are discussed with regard to interventions for families where children have developmental disorders.
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Discapacidades del Desarrollo/psicología , Atención Plena/métodos , Responsabilidad Parental/psicología , Padres/psicología , Estrés Psicológico/psicología , Pensamiento/fisiología , Adolescente , Adulto , Niño , Preescolar , Discapacidades del Desarrollo/diagnóstico , Femenino , Humanos , Masculino , Estrés Psicológico/diagnósticoRESUMEN
BACKGROUND: The field of intellectual and developmental disabilities (IDD) is currently experiencing a significant transformation that encompasses an integrated approach, especially regarding shared aspects such as a focus on the human and legal rights, the eligibility for services and supports, and an emphasis on individualized supports provided within inclusive community-based environments. Accompanying this transformation is the increased need of precision in both the operational definitions of IDD-related constructs, and the terminology used to describe the respective construct. METHOD: the specialized literature was revised, and previous works on the subject by the authors were updated. RESULTS: This article provides psychologists with the current definition of intellectual disability, operational definitions of intellectual disability and developmental disabilities constructs and associated terminology, and the parameters of an integrated approach to disability. CONCLUSIONS: Implications for psychologists who are involved in diagnosis, classification, and planning supports for persons with intellectual or developmental disability are discussed.
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Discapacidades del Desarrollo , Discapacidad Intelectual , Psicología , Terminología como Asunto , Adaptación Psicológica , Derechos Civiles , Cognición , Prestación Integrada de Atención de Salud , Discapacidades del Desarrollo/clasificación , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/etiología , Discapacidades del Desarrollo/terapia , Personas con Discapacidad , Humanos , Discapacidad Intelectual/clasificación , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/etiología , Discapacidad Intelectual/terapia , Inteligencia , Relaciones Interpersonales , Discapacidades para el Aprendizaje , Teoría Psicológica , Factores de Riesgo , Habilidades Sociales , Apoyo SocialRESUMEN
How a social episode is perceived by a person and how the experience affects her/his subsequent behaviors will inevitably and sometimes accidentally vary in each case on the developmental trajectory from the birth of consciousness to death. Both the preceding developmental conditions and the social impact of the episode become a starting point for the following states of human complex conditions, creating the extraordinary diversity that characterizes our complex society. In this evolutionarily carved landscape, genetic factors including stochastic epistasis, environmental modification, and gene-environment interactions are all active. In these processes, interactions between developmental social vulnerability and environmental influences can lead to the emergence and persistence of some derivative states with social maladaptation. In our model, every psychiatric condition including aberrant paranoid-hallucinatory states is classified as a derivative state. The probability distribution curve for these derivative states has a non-linear relationship with the liability in the population, and there is none with probability 1.0 or zero. Individuals with trivial social vulnerability or high resilience may develop the derivative states in tremendously stressful circumstances, and individuals with huge social vulnerability may not necessarily develop the derivative states in the presence of adequate social supports. Social skillfulness/unskillfulness and behavioral flexibility/inflexibility form the core of the vulnerability-related dimensions. The clinical picture of a derivative manifestation is profiled depending on the individual trait levels in the derivative-related dimensions. Each derivative state has a requisite lineup of dimensions and each dimension can contribute to multiple psychiatric conditions. For example, aberrant paranoid-hallucinatory states and bipolar condition may share some developmental conditions as the derivative-related dimensions. Therefore, multiple derivative states can co-occur or be sequentially comorbid. Although the 'learned strategies' can ostensibly mask the clinical manifestation of developmental deviations, the change of the true dimensional position to the socially skillful direction is efficiently obtained through social experiences in a supportive environment. The liability-probability model makes it impossible to discriminate individuals with psychiatric diagnosis from individuals without the diagnosis and allows all of us to reside in the same human complex diversity.
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Trastorno Autístico/fisiopatología , Discapacidades del Desarrollo/fisiopatología , Trastornos Mentales/fisiopatología , Psiquiatría/normas , Psicología/normas , Trastornos Psicóticos/fisiopatología , Esquizofrenia/fisiopatología , Conducta Social , Adulto , Trastorno Autístico/diagnóstico , Conducta , Niño , Depresión/diagnóstico , Depresión/fisiopatología , Discapacidades del Desarrollo/diagnóstico , Epistasis Genética , Trastornos de Alimentación y de la Ingestión de Alimentos/diagnóstico , Trastornos de Alimentación y de la Ingestión de Alimentos/fisiopatología , Interacción Gen-Ambiente , Humanos , Trastornos Mentales/diagnóstico , Trastornos Paranoides/diagnóstico , Trastornos Paranoides/fisiopatología , Fenotipo , Trastornos Fóbicos/diagnóstico , Trastornos Fóbicos/fisiopatología , Probabilidad , Psiquiatría/métodos , Psicología/métodos , Psicopatología , Trastornos Psicóticos/diagnóstico , Esquizofrenia/diagnóstico , Cambio Social , Procesos Estocásticos , Estrés Psicológico , Intento de SuicidioRESUMEN
BackgroundBeing born with very low birth weight (<1500 g) is associated with poorer neurocognition later in life. The aim of this study was to explore neurodevelopmental functions in those born with marginally LBW (2000-2500 g).MethodsThis was originally a randomized controlled trial investigating the effects of early iron supplementation in 285 marginally LBW children. Herein, we explored the combined marginally LBW group and compared their results to 95 normal birth weight (NBW; 2501-4500 g) controls in an observational design. At 7 years, a pediatric psychologist tested the children using Wechsler Intelligence Scale for Children (WISC IV), Beery-Buktenica developmental test of Visual-Motor Integration (Beery VMI), and Test of Everyday Attention for Children (TEA-Ch).ResultsThe marginally LBW children had lower verbal comprehension intelligence quotient (IQ) (104 vs. 107, P=0.004), lower VMI scores (96.5 vs. 100, P=0.028), and lower total mean TEA-Ch scores (8.5 vs. 9.7, P=0.006), compared to controls. Also, the marginally LBW children group had a higher proportion of children below -1 SD for VMI and TEA-Ch.ConclusionsMarginally LBW children had lower verbal comprehension IQ, lower visual-motor integration, and lower attention performance than NBW children, suggesting an increased risk of cognitive difficulties in early school age.
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Discapacidades del Desarrollo/diagnóstico , Recién Nacido de Bajo Peso , Pruebas de Inteligencia , Pruebas Neuropsicológicas , Niño , Preescolar , Cognición , Discapacidades del Desarrollo/etiología , Femenino , Humanos , Recién Nacido , Recién Nacido de muy Bajo Peso , Inteligencia , Hierro/uso terapéutico , Masculino , Estudios Prospectivos , Ensayos Clínicos Controlados Aleatorios como Asunto , SueciaRESUMEN
Hyperekplexia (HPX) or startle disease is a rare hereditary neurological disorder characterized by generalized stiffness, excessive startle reflex to unexpected stimuli and a short period of generalized stiffness following the startle response, and can be complicated by umbilical or inguinal hernia, developmental delay and apnea spell. HPX is caused mainly by mutations in the GLRA1 gene, and has a good response to clonazepam. In this short communication we describe an 11-year-old girl with excessive startle reflex, weird laughing and developmental delay since early infancy. She also suffered from infantile spasms and generalized tonic-clonic seizures, and became seizure-free with antiepileptic drugs treatment. However, the weird laughing was still present during the treatment. Her mother also appeared excessive startle reflex during early infancy. A novel mutation in GLRA1 was detected in the girl and her mother. Consequently, she was diagnosed with HPX, and clonazepam was added. The weird laughing was dramatic improved, which hasn't been reported in HPX. This is the first report of weird laughing in a hyperekplexia patient carrying a novel GLRA1 mutation, and expanded the phenotype spectrum of HPX.
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Hiperekplexia/genética , Risa , Mutación , Receptores de Glicina/genética , Encéfalo/diagnóstico por imagen , Encéfalo/fisiopatología , Niño , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/tratamiento farmacológico , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/fisiopatología , Diagnóstico Diferencial , Femenino , Humanos , Hiperekplexia/diagnóstico , Hiperekplexia/tratamiento farmacológico , Hiperekplexia/fisiopatología , FenotipoRESUMEN
EDUCERE (Ubiquitous Detection Ecosystem to Care and Early Stimulation for Children with Developmental Disorders) is a government funded research and development project. EDUCERE objectives are to investigate, develop, and evaluate innovative solutions for society to detect changes in psychomotor development through the natural interaction of children with toys and everyday objects, and perform stimulation and early attention activities in real environments such as home and school. In the EDUCERE project, an ethical impact assessment is carried out linked to a minors' data protection rights. Using a specific methodology, the project has achieved some promising results. These include use of a prototype of smart toys to detect development difficulties in children. In addition, privacy protection measures which take into account the security concerns of health data, have been proposed and applied. This latter security framework could be useful in other Internet of Things related projects. It consists of legal and technical measures. Special attention has been placed in the transformation of bulk data such as acceleration and jitter of toys into health data when patterns of atypical development are found. The article describes the different security profiles in which users are classified.
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Seguridad Computacional , Confidencialidad , Recolección de Datos/ética , Sistemas de Apoyo a Decisiones Clínicas/ética , Internet , Juego e Implementos de Juego , Privacidad , Macrodatos , Niño , Desarrollo Infantil , Computadores , Recolección de Datos/métodos , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/terapia , Procesamiento Automatizado de Datos/ética , Procesamiento Automatizado de Datos/métodos , Registros Electrónicos de Salud , Humanos , Destreza Motora , TelemedicinaRESUMEN
BACKGROUND: Though Ethiopia has implemented different nutritional interventions, childhood stunting on which literature is limited continues as a severe public health problem. Thus, this study aimed to investigate stunting and its determinants among children aged 6-59 months in the predominantly rural northwest Ethiopia. METHODS: A community based cross-sectional study was conducted from May to June 2015 at Dabat Health and Demographic Surveillance System (HDSS) site. A total of 1295 mother-child pairs were included for analysis. An ordinal multivariable logistic regression analysis was carried out to identify the determinants of severe stunting. To show the strength of associations, both Crude Odds Ratio (COR) and Adjusted Odds Ratios (AOR) with a 95% Confidence Interval (CI) were estimated. Also, a P-value of <0.05 was used to declare statistical significance in the final model. RESULTS: The overall prevalence of stunting among children aged 6-59 months was 64.5%, of which about 37.7% and 26.8% were moderately and severely stunted, respectively. Farming occupation of mother [AOR = 1.45; 95% CI: 1.08, 1.93], lack of postnatal vitamin-A supplementation [AOR = 1.54; 95%: 1.19, 2.00], poorer household wealth status [AOR = 2.07; CI: 1.56, 2.75] and accessing family food from farms [AOR = 1.44; 95% CI: 1.09, 1.89] were identified as the key determinants of severe stunting. CONCLUSION: In the district, the magnitude of stunting was a critical public health concern. Therefore, emphasis should be given to improving mothers' postnatal vitamin A supplementation coverage and building knowledge about appropriate child feeding practices among farmer mothers and poorer households.
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Discapacidades del Desarrollo/epidemiología , Trastornos del Crecimiento/diagnóstico , Trastornos del Crecimiento/epidemiología , Pobreza , Distribución por Edad , Preescolar , Estudios Transversales , Países en Desarrollo , Discapacidades del Desarrollo/diagnóstico , Etiopía/epidemiología , Femenino , Humanos , Lactante , Modelos Logísticos , Masculino , Análisis Multivariante , Evaluación de Necesidades , Prevalencia , Estudios Retrospectivos , Factores de Riesgo , Índice de Severidad de la Enfermedad , Distribución por Sexo , Factores SocioeconómicosRESUMEN
BACKGROUND: This study aims to identify risk factors and the neurodevelopmental impact of neonatal hyperbilirubinemia in a limited-resource setting among a refugee and migrant population residing along the Thai-Myanmar border, an area with a high prevalence of glucose-6-phosphate dehydrogenase-deficiency. METHODS: This is an analytic, observational, prospective birth cohort study including all infants of estimated gestational age equal to or greater than 28 weeks from mothers who followed antenatal care in the Shoklo Malaria Research Unit clinics. At birth, a series of clinical exams and laboratory investigations on cord blood will be carried out. Serum bilirubin will be measured in all infants during their first week of life. All the infants of the cohort will be clinically followed until the age of one year, including monitoring of their neurodevelopment. DISCUSSION: The strength of this study is the prospective cohort design. It will allow us to collect information about the pregnancy and detect all infants with neonatal hyperbilirubinemia, to observe their clinical response under treatment and to compare their neurodevelopment with infants who did not develop neonatal hyperbilirubinemia. Our study design has some limitations in particular the generalizability of our findings will be limited to infants born after the gestational age of 28 weeks onwards and neurodevelopment to the end of the first year of life. TRIAL REGISTRATION: ClinicalTrials.gov ID NCT02361788 , registration date September 1st, 2014.
Asunto(s)
Discapacidades del Desarrollo/etiología , Hiperbilirrubinemia Neonatal/etiología , Refugiados , Migrantes , Estudios de Casos y Controles , Protocolos Clínicos , Discapacidades del Desarrollo/diagnóstico , Estudios de Seguimiento , Humanos , Hiperbilirrubinemia Neonatal/diagnóstico , Hiperbilirrubinemia Neonatal/epidemiología , Hiperbilirrubinemia Neonatal/terapia , Incidencia , Lactante , Recién Nacido , Mianmar/etnología , Fototerapia , Estudios Prospectivos , Factores de Riesgo , Índice de Severidad de la Enfermedad , Tailandia/epidemiologíaRESUMEN
Children and adolescents with significant intellectual and developmental disabilities and complex medical problems require safe and comprehensive care to meet their medical and psychosocial needs. Ideally, such children and youth should be cared for by their families in their home environments. When this type of arrangement is not possible, there should be exploration of appropriate, alternative noncongregate community-based settings, especially alternative family homes. Government funding sources exist to support care in the community, although there is variability among states with regard to the availability of community programs and resources. It is important that families are supported in learning about options of care. Pediatricians can serve as advocates for their patients and their families to access community-based services and to increase the availability of resources to ensure that the option to live in a family home is available to all children with complex medical needs.
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Protección a la Infancia , Niños con Discapacidad/rehabilitación , Trastornos Mentales/terapia , Atención Dirigida al Paciente/organización & administración , Instituciones Residenciales/organización & administración , Adolescente , Niño , Servicios de Salud del Niño/organización & administración , Preescolar , Servicios de Salud Comunitaria/organización & administración , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/terapia , Evaluación de la Discapacidad , Niños con Discapacidad/educación , Femenino , Humanos , Masculino , Trastornos Mentales/diagnóstico , Medición de Riesgo , Estados Unidos , Poblaciones VulnerablesRESUMEN
BACKGROUND AND OBJECTIVES: Refugee children are at high developmental risk due to dislocation and deprivation. Standardized developmental screening in this diverse population is challenging. We used the Health Belief Model to guide key-informant interviews and focus groups with medical interpreters, health care providers, community collaborators, and refugee parents to explore key elements needed for developmental screening. Cultural and community-specific values and practices related to child development and barriers and facilitators to screening were examined. METHODS: We conducted 19 interviews and 2 focus groups involving 16 Bhutanese-Nepali, Burmese, Iraqi, and Somali participants, 7 community collaborators, and 6 providers from the Center for Refugee Health in Rochester, New York. Subjects were identified through purposive sampling until data saturation. Interviews were recorded, coded, and analyzed using a qualitative framework technique. RESULTS: Twenty-one themes in 4 domains were identified: values/beliefs about development/disability, practices around development/disability, the refugee experience, and feedback specific to the Parents' Evaluation of Developmental Status screen. Most participants denied a word for "development" in their primary language and reported limited awareness of developmental milestones. Concern was unlikely unless speech or behavior problems were present. Physical disabilities were recognized but not seen as problematic. Perceived barriers to identification of delays included limited education, poor healthcare knowledge, language, and traditional healing practices. Facilitators included community navigators, trust in health care providers, in-person interpretation, visual supports, and education about child development. CONCLUSIONS: Refugee perspectives on child development may influence a parent's recognition of and response to developmental concerns. Despite challenges, standardized screening was supported.
Asunto(s)
Desarrollo Infantil , Tamizaje Masivo , Refugiados , Niño , Barreras de Comunicación , Discapacidades del Desarrollo/diagnóstico , Escolaridad , Grupos Focales , Conocimientos, Actitudes y Práctica en Salud , Alfabetización en Salud , Accesibilidad a los Servicios de Salud , Humanos , Entrevistas como Asunto , Medicina Tradicional , Salud Mental , New York , Padres , Religión , Estigma Social , ConfianzaRESUMEN
Infants with complex congenital heart disease are at high risk for poor neurodevelopmental outcomes. However, implementation of dedicated congenital heart disease follow-up programs presents important infrastructure, personnel, and resource challenges. We present the development, implementation, and retrospective review of 1- and 2-year outcomes of a Complex Congenital Heart Defect Neurodevelopmental Follow-Up program. This program was a synergistic approach between the Pediatric Cardiology, Cardiothoracic Surgery, Pediatric Intensive Care, and Neonatal Intensive Care Unit Follow-Up teams to provide a feasible and responsible utilization of existing infrastructure and personnel, to develop and implement a program dedicated to children with congenital heart disease. Trained developmental testers administered the Ages and Stages Questionnaire-3 over the phone to the parents of all referred children at least once between 6 and 12 months' corrected age. At 18 months' corrected age, all children were scheduled in the Neonatal Intensive-Care Unit Follow-Up Clinic for a visit with standardized neurological exams, Bayley III, multidisciplinary therapy evaluations and continued follow-up. Of the 132 patients identified in the Cardiothoracic Surgery database and at discharge from the hospital, a total number of 106 infants were reviewed. A genetic syndrome was identified in 23.4% of the population. Neuroimaging abnormalities were identified in 21.7% of the cohort with 12.8% having visibly severe insults. As a result, 23 (26.7%) received first-time referrals for early intervention services, 16 (13.8%) received referrals for new services in addition to their existing ones. We concluded that utilization of existing resources in collaboration with established programs can ensure targeted neurodevelopmental follow-up for all children with complex congenital heart disease.
Asunto(s)
Servicio de Cardiología en Hospital/organización & administración , Desarrollo Infantil , Prestación Integrada de Atención de Salud/organización & administración , Cardiopatías Congénitas/terapia , Unidades de Cuidado Intensivo Neonatal/organización & administración , Cuidado Intensivo Neonatal/organización & administración , Sistema Nervioso/crecimiento & desarrollo , Grupo de Atención al Paciente/organización & administración , Factores de Edad , Servicio de Cardiología en Hospital/estadística & datos numéricos , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/fisiopatología , Discapacidades del Desarrollo/rehabilitación , Intervención Médica Temprana/organización & administración , Estudios de Factibilidad , Femenino , Servicios de Salud/estadística & datos numéricos , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/fisiopatología , Humanos , Lactante , Recién Nacido , Unidades de Cuidado Intensivo Neonatal/estadística & datos numéricos , Cuidado Intensivo Neonatal/estadística & datos numéricos , Masculino , Modelos Organizacionales , Examen Neurológico , Ohio , Evaluación de Programas y Proyectos de Salud , Derivación y Consulta/organización & administración , Estudios Retrospectivos , Encuestas y Cuestionarios , Factores de Tiempo , Resultado del TratamientoAsunto(s)
Documentación/métodos , Diagnóstico Precoz , Adhesión a Directriz , Tamizaje Neonatal/enfermería , Diagnóstico de Enfermería/organización & administración , Registros de Enfermería , Niño , Preescolar , Fibrosis Quística/diagnóstico , Fibrosis Quística/enfermería , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/enfermería , Femenino , Alemania , Pérdida Auditiva/diagnóstico , Pérdida Auditiva/enfermería , Humanos , Lactante , Recién Nacido , Masculino , Programas Nacionales de Salud , Tamizaje Neonatal/organización & administración , Trastornos de la Visión/diagnóstico , Trastornos de la Visión/enfermeríaRESUMEN
The massa intermedia is an inconstant parenchymal band connecting the medial thalami. It may be thickened in various disease processes such as Chiari II malformation or absent in other disease states. However, the massa intermedia may also be absent in up to 30% of normal human brains. To the best of my knowledge, detailed imaging findings of massa intermedia duplication have only been described in a single case report. An additional case of thalamic massa intermedia duplication discovered on a routine brain MR performed for dysmorphic facial features is reported herein.
Asunto(s)
Facies , Tálamo/anomalías , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/etiología , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Convulsiones/diagnóstico , Convulsiones/etiologíaRESUMEN
CONTEXT: The developing brain is vulnerable to iodine deficiency (ID) and environmental neuro-toxicants. OBJECTIVES: To assess neurocognitive development of children whose mothers have received (or not) iodine supplementation during pregnancy, in an area of borderline ID, while assessing in utero exposure to environmental neuro-toxicants. DESIGN/PATIENTS: Among 86 children born from normal euthyroid women who participated in our prospective interventional study on iodine supplementation (150 µg/day) started early in pregnancy, 44 (19 with iodine supplementation, 25 controls) were assessed at two years using the Bayley test. Information on parents' education and habits (smoking), and on child development was recorded. Thyroid tests at each trimester of pregnancy and on cord blood (CB) were available, as well as milk concentrations of selected environmental compounds known for their neurotoxicity, including heavy metals and PCBs. RESULTS: There was no difference in Bayley tests for children born to mothers with and without iodine supplementation, but sample size was small. Language and Social-Emotional Scales were negatively correlated with TBG at all times tested, while PCB 118 correlated negatively with all Language scales. Among maternal and CB thyroid tests, only CB thyroglobulin, the best marker of iodine status, correlated (negatively) with neurodevelopment scales (Motor and Expressive Language). CONCLUSIONS: This pilot study suggests that PCB118 has a negative impact on neurocognitive development, possibly mitigating the benefit of iodine supplementation in an area of borderline ID. We propose that exposure to environmental neurotoxicants should be taken into account when designing studies on the benefit of iodine supplementation in pregnancy. The potential interactions between TBG, environmental neurotoxicants and brain development warrant further studies.