Challenges, priorities, barriers to care, and stigma in families of people with autism: Similarities and differences among six Latin American countries.

LAY ABSTRACT: Approximately 6 million individuals with autism spectrum disorder live in Latin America. In order to strengthen autism spectrum disorder research collaborations and awareness in the region, the Latin American Autism Spectrum Network (Red Espectro Autista Latinoamerica) was constituted in 2015, comprising researchers and clinicians from the following six countries: Brazil Argentina, Chile, Uruguay, Venezuela, and the Dominican Republic. This first multisite study from the Red Espectro Autista Latinoamerica network aims to describe the challenges and priorities to identify barriers to care and to map stigma among families of individuals with autism spectrum disorder living in Latin America. A total of 2942 caregivers from these six countries completed an online survey showing that the main priorities were greater community awareness and improvements in the educational system for individuals with autism spectrum disorder. In addition to that, the main barriers to care were related to lack of structure, mainly waiting lists (50.2%), high treatment costs (35.2%), and lack of specialized services (26.1%). Stigma experienced by families was frequent: one third reported feeling discriminated against and helpless for having a child with autism spectrum disorder. Also, 48.8% of the caregivers declared financial problems, 47.4% of them had to cut down work hours, and 35.5% had to leave their jobs because of their child's autism spectrum disorder. This is a pioneer study providing a description of the needs and challenges faced by families affected by autism spectrum disorder in Latin America, helping to build data-driven strategies at the national and regional levels.

Ndel1 oligopeptidase activity as a potential biomarker of early stages of schizophrenia.

Our previous studies showed reduced Ndel1 enzyme activity in patients with chronic schizophrenia (SCZ), and only a subtle NDEL1 mRNA increases in antipsychotic-naïve first-episode psychosis (FEP) individuals compared to matched healthy controls (HC). Aiming to refine the evaluation of Ndel1 enzyme activity in early stages of psychosis, we compared 3 groups composed by (1) subjects at ultra-high-risk (UHR) for psychosis, (2) a cohort comprising antipsychotic-naïve FEP individuals (assessed in three moments, at baseline (FEP-0), and after 2 months (FEP-2 M) and one year (FEP-1Y) of treatment with risperidone), and (3) a HC group. There was no significant difference in Ndel1 enzyme activity between UHR and HC, but this activity was significantly lower in FEP compared to HC. Conversely, Ndel1 activity in HC groups was higher than in FEP even before (FEP-0) or after the treatment with risperidone (FEP-2 M and FEP-1Y), and with progressive decrease of Ndel1 activity and significant improvement of symptoms observed after this treatment. In addition, a positive correlation was observed for Ndel1 activity with clinical symptoms as assessed by PANSS, while a negative correlation was seen for GAF scores. Our results suggest that reductions in Ndel1 activity in FEP may be possibly related to responses to the illness, rather than to the pharmacological effects of antipsychotics, which might be acting essentially in the symptoms suppression. This hypothesis might be further evaluated in prospective long-term follow-up studies with a larger sample cohort.

An International Clinical Study of Ability and Disability in Autism Spectrum Disorder Using the WHO-ICF Framework.

This is the fourth international preparatory study designed to develop International Classification of Functioning, Disability and Health (ICF, and Children and Youth version, ICF-CY) Core Sets for Autism Spectrum Disorder (ASD). Examine functioning of individuals diagnosed with ASD as documented by the ICF-CY in a variety of clinical settings. A cross-sectional study was conducted, involving 11 units from 10 countries. Clinical investigators assessed functioning of 122 individuals with ASD using the ICF-CY checklist. In total, 139 ICF-CY categories were identified: 64 activities and participation, 40 body functions and 35 environmental factors. The study results reinforce the heterogeneity of ASD, as evidenced by the many functional and contextual domains impacting on ASD from a clinical perspective.

Identifying Autism with a Brief and Low-Cost Screening Instrument-OERA: Construct Validity, Invariance Testing, and Agreement Between Judges.

Simple and low-cost observational-tools to detect symptoms of Autism Spectrum Disorder (ASD) are still necessary. The OERA is a new assessment tool to screen children eliciting observable behaviors with no substantial knowledge on ASD required. The sample was 99 children aged 3-10: 76 with ASD and 23 without ASD (11/23 had intellectual disability). The 13 remained items exhibited high interrater agreement and high reliability loaded onto a single latent trait. Such model showed excellent fit indices evaluated via confirmatory factor analysis and no item showed differential function in terms of age/sex/IQ. A cutoff of five points or higher resulted in the highest sensitivity (92.75) and specificity (90.91) percentages. OERA is a brief, stable, low-cost standardized observational-screening to identify ASD children.

Serum copeptin in children exposed to maltreatment.

AIM: Childhood maltreatment (CM) has been related to a persistent reprograming of stress-response. Copeptin is a marker of hypothalamic-pituitary-adrenal axis activation; however, few studies have examined copeptin levels in children exposed to CM. The aim of this study was to compare serum copeptin levels in children reporting child abuse and/or neglect and children with no history of CM. METHODS: This study included 65 children with a positive history of moderate to severe CM, as reported by themselves and their parent(s) during a clinical interview, and 71 children with no history of CM as a comparison group. CM was considered moderate to severe based on the child-reported frequency of being exposed to events related to sexual abuse, physical abuse, emotional abuse, emotional neglect, and/or physical neglect. Child psychopathology symptoms were assessed using the Child Behavior Checklist (CBCL). We measured serum copeptin concentration using enzyme-linked immunosorbent assay. RESULTS: Children exposed to CM exhibited higher levels of serum copeptin compared to children without CM when controlling for sex, age, and psychiatric morbidity. The CBCL total score, including internalizing and externalizing symptoms, was higher in children with CM. We found no correlation between copeptin and CBCL scores for internalizing symptoms and externalizing symptoms. CONCLUSION: CM is associated with copeptin serum levels independently of age, sex, and symptom severity. Copeptin is a promising new biomarker for children with a history of abuse and/or neglect.

Cytokines in schizophrenia: possible role of anti-inflammatory medications in clinical and preclinical stages.

AIMS: In this paper, we review the literature on the efficacy of anti-inflammatory agents as neuroprotectors in clinical and preclinical stages of schizophrenia. METHOD: A synthetic and integrative approach was applied to review studies stemming from epidemiology, phenomenology, cognition, genetics and neuroimaging data. We provide conclusions and future directions of research on early-onset schizophrenia. RESULTS: Abnormal inflammatory activation has been demonstrated in schizophrenia. Increases or imbalances in cytokines before birth or during childhood may impact neurodevelopment and produce vulnerability to schizophrenia. The specificity of inflammatory abnormalities in psychiatric disorders is controversial. Similar increases in pro-inflammatory cytokines have been described in other disorders, especially mood and anxiety disorders. One of the most important challenges at this point is the understanding of neurobiological correlates of prodromal stages of schizophrenia. CONCLUSION: Although future research should investigate the exact role of different cytokines in pathophysiology of schizophrenia, these mediators emerge as promising molecular targets to its prevention and treatment.