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

López-Pisón, J; García-Jiménez, M.C.; Galindo, L. Monge; Lafuente-Hidalgo, M; Pérez-Delgado, R; Oguiza, A. García; Peña-Segura, J L

doi:10.1016/j.nrleng.2013.10.018

Cited by 18 publications

(16 citation statements)

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“…5 The ability to establish the diagnosis earlier, starting in infancy, was an agreed priority. Therefore, there is an urgent need for research in biomarkers and more reliable and feasible early clinimetric measures.…”

Section: Variations In Clinical Practice and Thementioning

confidence: 99%

Report of a workshop on research gaps in the treatment of cerebral palsy

et al. 2016

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Cerebral palsy (CP) is heterogeneous in etiology and manifestations, making research into relevant therapies difficult and limiting the generalizability of the results. We report here on the NIH CP symposium, where stakeholders from academic, clinical, regulatory, and advocacy backgrounds discussed the major challenges and needs for moving forward with clinical research in CP, and outlined priorities and action items. New information is constantly generated through research into pathogenesis and etiology. Clinical research and new therapeutic approaches need to keep pace, through large data registry integration and new research designs. Development of standardized data collection, increasing academic focus on CP research, and iterative approaches to treatment throughout the patients' lives, have all been identified as areas of focus. The workshop identified critical gaps and areas of focus to increase the evidence base for therapeutic approaches to determine which treatments work best for which patients in the near future. These include consolidation and optimization of databases and registries, updates to the research methodology, and better integration of resources and stakeholders. DEFINING THE PROBLEM Cerebral palsy (CP) is a group of neurologic disorders of motor control with onset early in development and persistence throughout the lifespan. CP is the most common cause of motor disability in childhood, with an incidence of 2 to 3 per 1,000 live births, occurring 20 to 30 times more frequently in premature or low-birth-weight infants.1 These disturbances of movement and posture cause activity limitations.2 Those activity limitations resulting from spinal or neuromuscular disorders are excluded from the diagnosis. Various etiologies can cause the CP clinical spectrum but all have a disruption of motor control in common. In addition to prematurity, other known etiologies include developmental defects of the brain, perinatal stroke, hypoxia, shock, and fetal or neonatal inflammation/infection. However, CP may also occur in low-risk children for whom there is no obvious etiology or risk factor. CP is often accompanied by comorbidities such as seizures, communication deficits, hearing and vision deficits, and intellectual disability. There is a wide spectrum of functional outcomes from normal educational, career, and social activities to complete disability and dependence.An upper age limit for acquired pathology in the brain leading to CP is not absolute, but the onset of symptoms and the diagnosis are generally expected to occur by the age of 2. Given the heterogeneity in terms of etiology, pathology, clinical manifestations, and progression, it is best to consider CP as a collection of conditions rather than one uniform entity for developing treatment guidelines or conducting research on potential therapies.To address pressing research challenges, the National Institute of Neurological Disorders and Stroke (NINDS) organized a workshop with the main goal of discussing research needed to determine best ...

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Section: Variations In Clinical Practice and Thementioning

confidence: 99%

Report of a workshop on research gaps in the treatment of cerebral palsy

et al. 2016

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“…Autism, also known as Autistic Spectrum Disorder (ASD), is defined as a behavioural syndrome that affects motor and neuropsychological development and impairs social interaction, cognition, and communication in children (1) . Its aetiology remains unknown, however, it is currently considered a syndrome of multicausal origin that involves genetic, neurological, and social factors of children (2) .…”

Section: Introductionmentioning

confidence: 99%

Autismo infantil: impacto do diagnóstico e repercussões nas relações familiares

Pinto

Torquato

Collet

et al. 2016

Rev. Gaúcha Enferm.

157

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Objective: To analyse the context in which the diagnosis of autism is revealed and the impact of this revelation on family relationships. Methods: This is a qualitative study with 10 families of autistic children assisted at the Psychosocial Care Centre for Children and Youths in a municipality of Paraíba. Data were collected between July and August 2013 through semi-structured interviews and interpreted using thematic content analysis. Results:The identified Main Unit of Analysis and the respective categories were: the impact of disclosing the diagnosis of autism to the family; characteristics of diagnosis disclosure: the place, time, and the dialogic relationship between the professional and the family; changes in family relationships and the mother's burden when caring for the autistic child. Conclusions:The health professionals who report autism should better prepare the family to cope with the difficulties of this syndrome and autonomously care for the autistic child.Keywords: Autistic disorder. Diagnosis. Family relations. RESUMO Objetivo: Analisar o contexto da revelação do diagnóstico do autismo e o impacto deste nas relações familiares. Métodos: Trata-se de um estudo qualitativo, realizado com 10 familiares de crianças autistas, assistidas no Centro de Atenção Psicossocial Infanto Juvenil em um município da Paraíba. A coleta ocorreu entre julho e agosto de 2013 por meio de entrevista semiestruturada cujos dados foram interpretados pela análise de conteúdo na modalidade temática.Resultados: Identificou-se uma Unidade Temática Central com respectivas categorias: o impacto da revelação do diagnóstico de autismo para a família; características da revelação do diagnóstico: o local, o tempo e a relação dialógica entre o profissional e a família; alteração nas relações familiares e a sobrecarga materna no cuidado à criança autista. Conclusões:Há necessidade do profissional de saúde que noticiará o autismo saber preparar melhor a família para enfrentar as dificuldades impostas pela síndrome e para conquistar a autonomia no cuidado ao autista. Palavras-chave: Transtorno autístico. Diagnóstico. Relações familiares. RESUMENObjetivo: Analizar contexto de revelación del diagnóstico de autismo y el impacto de esto en las relaciones familiares. Métodos: Se trata de un estudio cualitativo con 10 familiares de niños autistas que reciben asistencia en el Centro de Atención Psicosocial para Niños y Jóvenes en un municipio de Paraíba. Los datos fueron recolectados entre julio y agosto de 2013 a través de entrevistas semiestructuradas y los datos fueron interpretados por el análisis de contenido en la modalidad temática.Resultados: Se identificó una Unidad Temática Central con respectivas categorías: el impacto de revelar el diagnóstico de autismo para la familia; la divulgación de las características de diagnóstico: el lugar, la hora y la relación dialógica entre el profesional y la familia; cambios en las relaciones familiares y la sobrecarga ,manterna en el cuidado del niño autista.Conclusiones: Existe la necesid...

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“…traumatic brain injury, neurodegenerative conditions such as motor neuron disease). In some conditions seen in children with developmental delay, the causes are indeterminable or remain the focus of much debate [Lopez-Pison et al 2014]. Communication disabilities are debilitating at any age, but for young, emergent communicators with CCN, the repercussions are particularly acute [Sturm et al 2006] -with ensuing implications for language development and literacy, access to social, learning, fiscal and health resources and opportunities; and engendering potentially harmful passivity and lifelong disconnection from their communities, impacting severely on quality of life.…”

Section: Communication Disabilitiesmentioning

confidence: 99%

Establishing Context

Norrie

Waller

Hannah

2021

ACM Trans. Comput.-Hum. Interact.

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Current mechanisms for adopting and supporting high-tech augmentative and alternative communication (AAC) within special-education appear limited in their success, despite recognition of the potential benefits they represent for young emerging communicators. Prior research in this field has been restricted to discrete survey or interview methodologies. We present a five-month mixed-methods ethnographic study in a special-education school to explore the facilitators and barriers experienced by those using technology, with children who have little or no functional speech, to stimulate communication and language comprehension. Our analysis supports the outcomes of earlier studies, but also furnishes novel insights into the scale and urgency of addressing the problem—with implications for user-centred design within this community. We highlight infrastructure, policy, and recruitment deficits, and propose a two-fold solution: (i) an increase in engagement with this population through the provision of enhanced, user-centred support; and (ii) induction of the cross-disciplinary role of Assistive Technologist, to serve as mediator between teacher, aided communicator, and their assistive technology. This work represents a contribution towards establishing more effective operational, interactional, and pedagogical support for learners using high-tech communication devices.

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

Cited by 18 publications

References 12 publications

Report of a workshop on research gaps in the treatment of cerebral palsy

Report of a workshop on research gaps in the treatment of cerebral palsy

Autismo infantil: impacto do diagnóstico e repercussões nas relações familiares

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