European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry.

INTRODUCTION: Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and participants' genetic profiles. METHODS AND ANALYSIS: EAGER is a European multisite cohort study and registry and is part of the AIMS-2-TRIALS consortium. EAGER was developed with input from the AIMS-2-TRIALS Autism Representatives and representatives from the rare genetic conditions community. 1500 participants with a diagnosis of autism or an associated rare genetic condition will be recruited at 13 sites across 8 countries. Participants will be given a blood or saliva sample for whole-genome sequencing and answer a series of online questionnaires. Participants may also consent to the study to access pre-existing clinical data. Participants will be added to the EAGER registry and data will be shared externally through established AIMS-2-TRIALS mechanisms. ETHICS AND DISSEMINATION: To date, EAGER has received full ethical approval for 11 out of the 13 sites in the UK (REC 23/SC/0022), Germany (S-375/2023), Portugal (CE-085/2023), Spain (HCB/2023/0038, PIC-164-22), Sweden (Dnr 2023-06737-01), Ireland (230907) and Italy (CET_62/2023, CEL-IRCCS OASI/24-01-2024/EM01, EM 2024-13/1032 EAGER). Findings will be disseminated via scientific publications and conferences but also beyond to participants and the wider community (eg, the AIMS-2-TRIALS website, stakeholder meetings, newsletters).

Sensibilidad y especificidad de los criterios diagnósticos DSM-5 en el trastorno del espectro autista en una muestra de niños y adolescentes españoles / Sensitivity and specificity of DSM-5 diagnostic criteria for autism spectrum disorder in a child and adolescent sample

Introducción Existe controversia acerca de los criterios DSM-5 para el diagnóstico de los trastornos del espectro autista (TEA). En la literatura encontramos resultados discrepantes, siendo el objetivo del estudio determinar la sensibilidad y la especificidad de los criterios DSM-5 para TEA en niños y adolescentes españoles. También se determinará la estabilidad del diagnóstico al pasar del DSM-IV-TR al DSM-5 y las diferencias clínicas entre TEA y trastorno de la comunicación social (TCS). Material y métodos El estudio se llevó a cabo en 2017, revisando las historias clínicas de los pacientes evaluados en nuestro servicio. Los ítems de la entrevista diagnóstica para el autismo (Autism Diagnostic Interview-Revised) se ajustaron al DSM-5 y se utilizaron para evaluar la sensibilidad y la especificidad de dicho manual. Resultados La sensibilidad del DSM-5 fue de 0,69-1,00, mayor para el género femenino, sin diferencias con respecto a la edad y menor para los pacientes con bajo funcionamiento. La especificidad fue de 0,64-0,73. Respecto a la estabilidad, el 83,3% de los casos de autismo diagnosticados con el DSM-IV-TR mantuvieron el diagnóstico siguiendo los criterios del DSM-5. En cuanto a las diferencias entre los pacientes diagnosticados de TEA y los diagnosticados de TCS, cabe mencionar que los primeros requirieron más tratamientos farmacológicos durante su evolución. Conclusiones Se necesitan más estudios centrados en el diagnóstico de TCS para determinar si la evolución es diferente a la de los pacientes diagnosticados de TEA. También será necesario confeccionar nuevas herramientas diagnósticas y terapéuticas para los pacientes con diagnóstico de TCS. (AU)

Background Controversy exists regarding the DSM-5 criteria for autism spectrum disorders (ASD). Given the mixed results that have been reported, our main aim was to determine DSM-5 sensitivity and specificity in a child and adolescent Spanish sample. As secondary goals, we assessed the diagnostic stability of DSM-IV-TR in DSM-5, and clinical differences between children diagnosed with an ASD or a social (pragmatic) communication disorder (SPCD). Methods This study was carried out in 2017, reviewing the medical records of patients evaluated in our service. Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) were matched to DSM-5 criteria and used to assess the sensitivity and specificity of the DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. Results DSM-5 sensitivity ranged from 0.69 to 1.00, and was higher in females. By age, the DSM-5 and DSM-IV-TR criteria showed similar sensitivity. In the case of intellectual quotient, DSM-5 criteria sensitivity was lower for those in the “low-functioning” category. DSM-5 specificity ranged from 0.64 to 0.73, while DSM-5 specificity was similar for all phenotypic subgroups. With respect to stability, 83.3% of autism disorder cases retained a diagnosis of ASD using the DSM-5 criteria. With regard to differences between ASD and SPCD, we found that patients diagnosed with ASD received more pharmacological treatment than those diagnosed with SPCD. Conclusions Further research is required to confirm our results. Studies focusing on the SPCD phenotype will be necessary to determine outcome differences with ASD and the most effective diagnostic and therapeutic tools. (AU)

Sensitivity and specificity of DSM-5 diagnostic criteria for autism spectrum disorder in a child and adolescent sample.

BACKGROUND: Controversy exists regarding the DSM-5 criteria for autism spectrum disorders (ASD). Given the mixed results that have been reported, our main aim was to determine DSM-5 sensitivity and specificity in a child and adolescent Spanish sample. As secondary goals, we assessed the diagnostic stability of DSM-IV-TR in DSM-5, and clinical differences between children diagnosed with an ASD or a social (pragmatic) communication disorder (SPCD). METHODS: This study was carried out in 2017, reviewing the medical records of patients evaluated in our service. Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) were matched to DSM-5 criteria and used to assess the sensitivity and specificity of the DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. RESULTS: DSM-5 sensitivity ranged from .69 to 1.00, and was higher in females. By age, the DSM-5 and DSM-IV-TR criteria showed similar sensitivity. In the case of intellectual quotient, DSM-5 criteria sensitivity was lower for those in the "low-functioning" category. DSM-5 specificity ranged from .64 to .73, while DSM-5 specificity was similar for all phenotypic subgroups. With respect to stability, 83.3% of autism disorder cases retained a diagnosis of ASD using the DSM-5 criteria. With regard to differences between ASD and SPCD, we found that patients diagnosed with ASD received more pharmacological treatment than those diagnosed with SPCD. CONCLUSIONS: Further research is required to confirm our results. Studies focusing on the SPCD phenotype will be necessary to determine outcome differences with ASD and the most effective diagnostic and therapeutic tools.

Sensitivity and specificity of DSM-5 diagnostic criteria for autism spectrum disorder in a child and adolescent sample. / Sensibilidad y especificidad de los criterios diagnósticos DSM-5 en el trastorno del espectro autista en una muestra de niños y adolescentes españoles.

BACKGROUND: Controversy exists regarding the DSM-5 criteria for autism spectrum disorders (ASD). Given the mixed results that have been reported, our main aim was to determine DSM-5 sensitivity and specificity in a child and adolescent Spanish sample. As secondary goals, we assessed the diagnostic stability of DSM-IV-TR in DSM-5, and clinical differences between children diagnosed with an ASD or a social (pragmatic) communication disorder (SPCD). METHODS: This study was carried out in 2017, reviewing the medical records of patients evaluated in our service. Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) were matched to DSM-5 criteria and used to assess the sensitivity and specificity of the DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. RESULTS: DSM-5 sensitivity ranged from 0.69 to 1.00, and was higher in females. By age, the DSM-5 and DSM-IV-TR criteria showed similar sensitivity. In the case of intellectual quotient, DSM-5 criteria sensitivity was lower for those in the "low-functioning" category. DSM-5 specificity ranged from 0.64 to 0.73, while DSM-5 specificity was similar for all phenotypic subgroups. With respect to stability, 83.3% of autism disorder cases retained a diagnosis of ASD using the DSM-5 criteria. With regard to differences between ASD and SPCD, we found that patients diagnosed with ASD received more pharmacological treatment than those diagnosed with SPCD. CONCLUSIONS: Further research is required to confirm our results. Studies focusing on the SPCD phenotype will be necessary to determine outcome differences with ASD and the most effective diagnostic and therapeutic tools.