Age of diagnosis, service access, and rights of autistic individuals in Argentina: Caregivers reports of changes and similarities across time.

Background: Many countries have developed health initiatives to protect those with disabilities and developmental concerns in the past few years. However, the needs of autistic individuals are still short of being fulfilled. Partially due to limited research expenditure, which would allow bridging the gap between evidence and practice, the long time it takes to implement passed laws, and the limited operationalization of inclusive policies. Objective: To quantitatively examine changes in the child's age at the time of caregiver's first developmental concerns and age of diagnosis of their autistic child across 5 years. Also, to address challenges experienced by caregivers (e.g., reported service barriers) and the work still needing to be done in Argentina based on caregivers' reports of their priorities (e.g., ensuring their child receives better services). Methods: Two independent samples of caregivers of autistic individuals were surveyed by the Red Espectro Autista Latinoamerica (REAL) in 2015 (n = 763) and the World Health Organization (WHO) in 2020 (n = 422). Similar items in both surveys were compared through descriptive inferential analysis and chi-square tests for categorical variables. Results: Compared to the 2015 sample, for the 2020 sample, more caregivers reported an earlier age of first concerns and an earlier age of a professional diagnosis. In the 2020 sample, more children diagnosed before the age of three had a doctor or a teacher noticing the first developmental concern. Also, in this sample, fewer caregivers reported service barriers (e.g., limited availability, waitlist, costs, etc.) and a need for better social support and better health services. However, rates of caregivers indicating a need for more rights for autistic individuals and greater protection of existing rights increased. There was no change in the reported rate of family members who stopped working to care for the autistic individual. For both samples, there was statistically significant differences in individual (physician, teacher, caregiver) noticing first developmental concern and the age of diagnosis, with the majority having a caregiver noticing the first concern. Conclusion: The 5 years that separate both samples show an improvement in developmental concerns being noticed, a decrease in age of diagnosis, and an improvement in several service areas such as community awareness. Also, caregivers reported fewer barriers to service accessibility, thus suggesting a positive impact stemming from changes in public policies, non-profit organizations' work through awareness campaigns, and advocates' strives toward greater awareness. Nonetheless, a similar proportion of family members reported ceasing working to care for autistic individuals and perceived that the fundamental rights of their autistic children needed to be protected. These results imply that despite better care pathways in Argentina, there are still gaps when attempting to meet the needs of autistic individuals and their families. The present study provides a meaningful understanding of existing gaps and help exemplify the perceived improvements when non-profit agencies and advocates promote increased rights and community awareness in addition to the established laws focusing on ASD.

An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis.

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a rare disease with an important characteristic-clinical heterogeneity. The diversity of organs, regions, and systems of the body that can be affected requires periodic updating of health professionals so that they can recognize these clinical signs as belonging to 22q11.2DS. Updated professionals are equally important for the appropriate and timely clinical management of individuals with a positive diagnosis. In this context, this article aimed to map and analyze the access to healthcare for individuals with 22q11.2DS until the moment of diagnosis. RESULTS: We analyzed the clinical data of 111 individuals with 22q11.2DS registered in the Brazilian Database on Craniofacial Anomalies (BDCA) from 2008 to 2020. In this study, individuals were diagnosed at a median age of 9 years (mean = 9.7 years). Before the genetic investigation, they accessed 68.75% of the internationally recommended evaluations available at BDCA. Recurrent 22q11.2DS clinical manifestations such as delayed neuropsychomotor development, lip and/or palate defects, cardiac malformation and/or hematological/immunological alteration co-occurred in at least 72.06% of individuals. Cardiac malformation was the only clinical alteration that lowered the median diagnostic age, corresponding to 6.5 years of age with a cardiac malformation versus 11 years of age without one (p = 0.0006). CONCLUSIONS: In Brazil, 22q11.2 DS is under-recognized, and early diagnosis and management of affected individuals are still a distant reality. In this sense, 22q11.2 DS suspicion followed by the elimination of obstacles for its diagnosis confirmation is essential to increase life expectancy and improve the quality of life of these individuals in Brazil.

Relación entre tiempo de pesquisa de alteraciones del neurodesarrollo por parte de cuidadores y diagnóstico de TEA de alto funcionamiento / Relationship between time of detection of neurodevelopmental alterations by caregivers and diagnosis of high functioning ASD

INTRODUCCIÓN: La intervención precoz en el trastorno del espectro autista (TEA) ha demostrado ser fundamental para un mejor pronóstico a largo plazo. Se han descrito importantes latencias entre la pesquisa de sintomatología y el diagnóstico, retardando el inicio de terapia. OBJETIVO: Correlacionar el tiempo entre la pesquisa de alteración del neurodesarrollo por parte de los cuidadores y el diagnóstico de TEA. METODOLOGÍA: Estudio observacional retrospectivo de pacientes diagnosticados con TEA en el Centro de Terapia del Comportamiento. RESULTADOS: 28 pacientes (24 hombres) con diagnóstico de TEA. Mediana de edad de inicio de síntomas de 24 meses y de diagnóstico de 62,5 meses. No existe una correlación entre la edad de pesquisa de síntomas y del diagnóstico (r2=0,1). CONCLUSIONES: No hubo relación entre edad de pesquisa de síntomas por los cuidadores y diagnóstico de TEA. Este estudio refleja la necesidad de ampliar el conocimiento poblacional sobre sintomatología temprana de TEA, siendo una herramienta de salud pública para lograr el manejo precoz y mejorar el pronóstico de estos sujetos.

INTRODUCTION: Early intervention in autism spectrum disorder (ASD) has shown to be essential for better long-term prognosis. Significant delays have been described between symptom assessment and diagnosis, deferring therapy initiation. OBJECTIVE: To relate the moment of symptom detection by caregivers and the medical diagnosis of ASD. METHODOLOGY: Observational retrospective study, including patients diagnosed with ASD at a private behavioral therapy center. Results: 28 patients (24 male) with diagnosis of ASD. Median age of symptom assessment was at 24 months and of diagnosis at 62.5 months. There is no relation between the age of symptoms assessment and diagnosis (r2 = 0.1). CONCLUSIONS: There was no relationship between the age at which symptoms were detected by caregivers and medical diagnosis of ASD. This study reflects the need to increase the awareness about early symptoms of ASD, being a public health tool to achieve early management and improve the prognosis of these subjects.

Age of diagnosis of autism spectrum disorder in Latino children: The case of Venezuelan children.

Latino children are diagnosed with autism spectrum disorder later in life, usually with more severe symptoms, and lower IQs, compared with non-Latino children. Possible reasons for such disparities could be due to lower levels of parent education, lower socioeconomic status, limited knowledge of parents about autism spectrum disorder, and diminished health-care knowledge. The goal of the study was to describe the age of parental concerns and at first autism spectrum disorder diagnosis, and factors associated with age at the first diagnosis in a sample of Venezuelan children. Diagnostic and demographic data were collected from 103 children between 2 and 7 years of age. Although the mean age of first concerns was 17 months, the age of diagnosis varied from 53.03 months for the Pervasive Developmental Disorders-Not Otherwise specified group to 54.38 months for the autism group. Although parents were aware of developmental difficulties before the second year of life, their children were diagnosed 36 months later. In Latin cultures, behavior problems are usually attributed to poor parenting skills, so parents might take longer to seek professional help. A better understanding of cultural influences on age of diagnosis will translate to quicker use of services independent of ethnicity.