Multistage screening process for neurodevelopmental disorders in siblings of children with autism: the FRATSA protocol study

International audienceIntroduction The elevated rates of neurodevelopmental disorders (NDDs) among siblings of children with autism spectrum disorder (ASD) raise concerns about their developmental monitoring and development. The main aim of this study is to assess the feasibility and acceptability of a standardised screening process on a large sample of siblings. Methods and analysis This prospective study will assess the feasibility of a selective and multi-stage screening process for NDD performed on 384 siblings of children with confirmed ASD. Stage 1 will consist of the screening of NDD performed using online parental questionnaires (Social Responsiveness Scale, IdentiDys scale, DCDQ, parental concerns) through a web platform. In cases of a positive result, the second stage, consisting of a clinical semi-structured interview with a psychologist, will be proposed to the sibling before referral for diagnosis and treatment, if necessary. Approximately 12 months after stage 2, parents will be contacted by telephone to collect the diagnosis established following the referrals and their level of satisfaction concerning the screening process. Based on an expected participation rate of 50%, to estimate this rate with an accuracy of 5%, it is necessary to screen 384 subjects. Ethics and dissemination The Ethics Committee on the Research of Human Subjects of Paris (Ile de France VII) approved this study in March 2022 (number: 2021-A02241-40). Express consent is required from all participants. Findings from the cohort study will be disseminated by publication of peer-reviewed manuscripts, presentations at scientific meetings and conferences with associated teams. Trial registration number NCT05512637

Multistage screening process for neurodevelopmental disorders in siblings of children with autism: the FRATSA protocol study

IntroductionThe elevated rates of neurodevelopmental disorders (NDDs) among siblings of children with autism spectrum disorder (ASD) raise concerns about their developmental monitoring and development. The main aim of this study is to assess the feasibility and acceptability of a standardised screening process on a large sample of siblings.Methods and analysisThis prospective study will assess the feasibility of a selective and multi-stage screening process for NDD performed on 384 siblings of children with confirmed ASD. Stage 1 will consist of the screening of NDD performed using online parental questionnaires (Social Responsiveness Scale, IdentiDys scale, DCDQ, parental concerns) through a web platform. In cases of a positive result, the second stage, consisting of a clinical semi-structured interview with a psychologist, will be proposed to the sibling before referral for diagnosis and treatment, if necessary. Approximately 12 months after stage 2, parents will be contacted by telephone to collect the diagnosis established following the referrals and their level of satisfaction concerning the screening process. Based on an expected participation rate of 50%, to estimate this rate with an accuracy of 5%, it is necessary to screen 384 subjects.Ethics and disseminationThe Ethics Committee on the Research of Human Subjects of Paris (Ile de France VII) approved this study in March 2022 (number: 2021-A02241-40). Express consent is required from all participants. Findings from the cohort study will be disseminated by publication of peer-reviewed manuscripts, presentations at scientific meetings and conferences with associated teams.Trial registration numberNCT05512637.</jats:sec

Comorbidity Burden in Adults With Autism Spectrum Disorders and Intellectual Disabilities—A Report From the EFAAR (Frailty Assessment in Ageing Adults With Autism Spectrum and Intellectual Disabilities) Study

International audienc

Multimorbidity patterns and subgroups among autistic adults with intellectual disability: Results from the EFAAR study

International audienceMultimorbidity, defined as having two or more chronic health conditions, is associated with elevated polypharmacy and mortality. Autism spectrum disorder is a whole-body chronic health condition in which comorbidities – in particular co-occurring intellectual disability – contribute to high clinical heterogeneity, polypharmacy and premature mortality. We aimed to determine specific multimorbidity patterns among autism spectrum disorder + intellectual disability adults, and to identify participants’ subgroups based on multimorbidity features. We used baseline examination data from a previous exploratory prospective multicentric study that included 63 autism spectrum disorder + intellectual disability adults. Multimorbidity patterns and subgroups were determined using clustering approaches. We observed 84.1% multimorbidity, significantly associated with age. We identified a dominant multimorbidity pattern, combining immune dysfunction, gastrointestinal disorders, neurological, and joint diseases. Four participants’ subgroups could be distinguished by multimorbidity, autonomy and polypharmacy. Two clusters were distinguished by the prevalence and consequences of multimorbidity. One cluster involved women with endocrine disorders. The final cluster was composed of older adults with the lowest autism spectrum disorder severity but greater multimorbidity, including cardiovascular and kidney diseases. Our results support a role for the gut–brain axis in the pathophysiology of autism spectrum disorder + intellectual disability multimorbidity. Furthermore, we identified patient subgroups with specific needs, underscoring the importance of a holistic approach for autism spectrum disorder + intellectual disability adults. Lay abstract: Multimorbidity relates to having multiple chronic health conditions. It is a risk factor for poor health and reduces life expectancy. Autistic people have multiple chronic health conditions and die prematurely, especially if they have an intellectual disability (autism spectrum disorder and intellectual disability). Certain pathophysiological processes observed in autism spectrum disorder are common to those related to the genesis and/or maintenance of multimorbidity. Furthermore, multimorbidity could be helpful in better identifying patient subgroups in autism spectrum disorder. It is therefore essential to better characterize multimorbidity and its consequences in the subgroup of autism spectrum disorder + intellectual disability individuals to offer them personalized care. We conducted a preliminary study of 63 autism spectrum disorder + intellectual disability adults to classify them according to their multimorbidity and search for a specific combination of chronic health conditions. We observed high and early multimorbidity in this sample and identified four classes of participants, distinguished by their multimorbidity status, independence and number of treatments. In addition, we observed a dominant combination of multimorbidity in our sample, combining immune dysfunction and gastrointestinal disorders, neurological and joint diseases. These findings support the hypothesis that an altered gut–brain relationship is involved in the risk of autism spectrum disorder, its outcome, and its association with chronic health conditions. Although larger studies are needed, our results suggest that subgroups of autism spectrum disorder + intellectual disability individuals can be identified based on their multimorbidity and potentially different ageing trajectories. A more comprehensive and personalized approach is needed to reduce the burden of multimorbidity and increase the quality of life and life expectancy in autism spectrum disorder/ intellectual disability

La filière fait le point sur le risque de transfert de polluants organiques persistants vers les oeufs

National audienc

Table_1_Comorbidity Burden in Adults With Autism Spectrum Disorders and Intellectual Disabilities—A Report From the EFAAR (Frailty Assessment in Ageing Adults With Autism Spectrum and Intellectual Disabilities) Study.docx

Background: Autism spectrum disorder (ASD) is an early-onset and lifelong neurodevelopmental condition frequently associated with intellectual disability (ID). Although emerging studies suggest that ASD is associated with premature ageing and various medical comorbidities, as described for ID, data are scarce.Objectives: To determine the comorbidity burden and its association with distinct clinical presentation in terms of ASD severity, adaptive skills, level of autonomy, and drug exposure in a well-phenotyped sample of individuals with ASD-ID—the EFAAR (Frailty Assessment in Ageing Adults with Autism Spectrum and Intellectual Disabilities) cohort.Methods: A total of 63 adults with ASD-ID, with a mean age of 42.9 ± 15.1 years, were recruited from 2015 to 2017 from nine specialized institutions. They underwent detailed clinical examinations, including screening for comorbidities, ASD severity [Childhood Autism Rating Scale (CARS)], adaptive functioning [Vineland Adaptive Behavior Scale II (VABS-II)], autonomy [activities of daily living (ADLs)], and drug use [polypharmacy and the Drug Burden Index (DBI)]. The comorbidity burden was evaluated using the Cumulative Illness Rating Scale (CIRS-G) and its sub-scores [the severity index (CIRS-SI) and severe comorbidity (CIRS-SC)].Results: We found a large range of comorbidities, including gastrointestinal disorders and mental and neurological diseases. Overall, 25% of our ASD-ID sample had chronic kidney disease with the associated increased cardiovascular risk factors. The comorbidity burden was high (mean CIRS-G total score of 10.6 ± 4.8), comparable with that observed among patients older than those in our population hospitalized in geriatric departments. Furthermore, the comorbidity burden positively correlated with age, decreased autonomy, and polypharmacy.Conclusion: The severity of the comorbidity burden associated with premature ageing in adults with ASD and ID highlight their crucial need of personalized medical care.</p