Early detection of young children at risk of autism spectrum disorder at well-baby clinics in the Netherlands: Perspectives of preventive care physicians

Autism ◽  
2021 ◽  
pp. 136236132110093
Author(s):  
Michelle IJ Snijder ◽  
Shireen PT Kaijadoe ◽  
Maarten van ‘t Hof ◽  
Wietske A Ester ◽  
Jan K Buitelaar ◽  
...  

To improve early detection of autism spectrum disorder in preventive care, a Dutch guideline was developed 5 years ago. The guideline provides preventive care physicians at well-baby clinics action-oriented advice and describes a step-by-step approach for children identified at an increased risk for autism spectrum disorder during general healthcare surveillance. This qualitative study evaluated the guideline adherence and studied barriers regarding early detection of autism spectrum disorder at well-baby clinics. Semi-structured interviews were undertaken with 12 preventive care physicians (one representative per province). Interviews were analyzed using grounded theory. It was found that the vast majority of participants did not follow-up general surveillance with an autism spectrum disorder–specific screener as prescribed by the guideline. Six barriers, to be divided in personal, guideline-related and external factors, were found regarding early detection of autism spectrum disorder and adherence to the guideline. The results of this study highlight the importance of an integrative approach, raising awareness of the benefits regarding early detection of autism spectrum disorder in preventive care, the need of continuous investment in easy and accessible training and active screening, and a closer collaboration between preventive care organizations and autism spectrum disorder experts. Lay Abstract To improve early detection of autism spectrum disorder in preventive care, a Dutch guideline was developed 5 years ago. The guideline provides preventive care physicians at well-baby clinics action-oriented advice and describes a step-by-step approach for children identified at an increased risk for autism spectrum disorder during general healthcare surveillance. The present qualitative study evaluated adherence to the guideline and studied barriers regarding early detection of autism spectrum disorder at well-baby clinics. Interviews were undertaken with 12 preventive care physicians (one representative per province). It was found that the vast majority of participants did not follow-up general surveillance with an autism spectrum disorder -specific screener as prescribed by the guideline. Six barriers (limited knowledge about autism spectrum disorder symptoms in infant and toddlerhood, professional attitude toward early detection, problems in discussing initial worries with parents, limited use of screening instruments, perceptions toward cultural and language differences and constraints regarding availability of healthcare services) were found. The results of this study highlight the importance of an integrative approach, raising awareness of the benefits regarding early detection of autism spectrum disorder in preventive care, the need of continuous investment in easy and accessible training and active screening, and a closer collaboration between preventive care organizations and autism spectrum disorder experts.

Molecules ◽  
2021 ◽  
Vol 26 (7) ◽  
pp. 1845
Author(s):  
Stephen Schultz ◽  
Georgianna G. Gould ◽  
Nicola Antonucci ◽  
Anna Lisa Brigida ◽  
Dario Siniscalco

Persistent deficits in social communication and interaction, and restricted, repetitive patterns of behavior, interests or activities, are the core items characterizing autism spectrum disorder (ASD). Strong inflammation states have been reported to be associated with ASD. The endocannabinoid system (ECS) may be involved in ASD pathophysiology. This complex network of lipid signaling pathways comprises arachidonic acid and 2-arachidonoyl glycerol-derived compounds, their G-protein-coupled receptors (cannabinoid receptors CB1 and CB2) and the associated enzymes. Alterations of the ECS have been reported in both the brain and the immune system of ASD subjects. ASD children show low EC tone as indicated by low blood levels of endocannabinoids. Acetaminophen use has been reported to be associated with an increased risk of ASD. This drug can act through the ECS to produce analgesia. It may be that acetaminophen use in children increases the risk for ASD by interfering with the ECS.This mini-review article summarizes the current knowledge on this topic.


Autism ◽  
2021 ◽  
pp. 136236132110240
Author(s):  
Jung-Chi Chang ◽  
Meng-Chuan Lai ◽  
Yueh-Ming Tai ◽  
Susan Shur-Fen Gau

Cross-sectional research has demonstrated the overrepresentation of gender dysphoria in children and adults with autism spectrum disorder. However, the predictors and underlying mechanisms of this co-occurrence remain unclear. This follow-up study aimed to explore baseline (childhood/adolescence) predictors for the follow-up (adulthood) self-reported wish to be of the opposite sex and to investigate its mental health correlates in a sample of 88 autistic individuals as compared with 42 typically developing controls. An item on the Adult Self-Report Inventory-4, “I wish I was the opposite sex,” was used. We compared mental health symptoms between adults with and without this item endorsement. We used prediction models to explore family and autism-related predictors in childhood/adolescence to endorse this item in adulthood. There were more adults endorsing the item in the autism spectrum disorder group compared with the typically developing group. Autistic adults who endorsed the item experienced more mental health challenges, more bullying victimization, more suicidal ideations, and worse quality of life. Lower parent-reported family support and more stereotyped/repetitive behaviors during childhood/adolescence predicted the self-reported wish to be of the opposite sex in adulthood in autistic individuals. It is necessary to raise more attention to gender development and related mental health impact in autistic individuals. Lay abstract Autistic people/people with autism spectrum disorder are more likely to experience gender dysphoria. However, the possible longitudinal predictors and underlying mechanisms of this co-occurrence are unclear. To fill this knowledge gap, we assessed 88 people with autism spectrum disorder and 42 typically developing individuals at their average ages of 13.0 (baseline, childhood/adolescence) and 20.2 years old (follow-up, adulthood). At follow-up, their endorsement on the item “I wish I was the opposite sex” was used to evaluate gender dysphoric symptoms. We compared mental health symptoms between adults with and without this item endorsement at the follow-up assessment. We explored parent-reported family and autism characteristics-related predictors in childhood/adolescence to this item endorsement in adulthood. We found that more autistic adults reported the wish to be of the opposite sex than did typically developing individuals. Autistic adults who endorsed this item experienced more mental health challenges, more school bullying and cyberbullying, more suicidal ideation, and worse quality of life. Moreover, parent-reported lower family support and more stereotyped/repetitive behaviors during childhood/adolescence predicted the self-reported wish to be of the opposite sex in adulthood in autistic individuals. More attention and support should be provided to autistic people regarding gender development and related mental health and quality of life impact, especially during the transition period to young adulthood.


Toxics ◽  
2021 ◽  
Vol 9 (5) ◽  
pp. 97
Author(s):  
Tristan Furnary ◽  
Rolando Garcia-Milian ◽  
Zeyan Liew ◽  
Shannon Whirledge ◽  
Vasilis Vasiliou

Recent epidemiological studies suggest that prenatal exposure to acetaminophen (APAP) is associated with increased risk of Autism Spectrum Disorder (ASD), a neurodevelopmental disorder affecting 1 in 59 children in the US. Maternal and prenatal exposure to pesticides from food and environmental sources have also been implicated to affect fetal neurodevelopment. However, the underlying mechanisms for ASD are so far unknown, likely with complex and multifactorial etiology. The aim of this study was to explore the potential effects of APAP and pesticide exposure on development with regards to the etiology of ASD by highlighting common genes and biological pathways. Genes associated with APAP, pesticides, and ASD through human research were retrieved from molecular and biomedical literature databases. The interaction network of overlapping genetic associations was subjected to network topology analysis and functional annotation of the resulting clusters. These genes were over-represented in pathways and biological processes (FDR p < 0.05) related to apoptosis, metabolism of reactive oxygen species (ROS), and carbohydrate metabolism. Since these three biological processes are frequently implicated in ASD, our findings support the hypothesis that cell death processes and specific metabolic pathways, both of which appear to be targeted by APAP and pesticide exposure, may be involved in the etiology of ASD. This novel exposures-gene-disease database mining might inspire future work on understanding the biological underpinnings of various ASD risk factors.


Author(s):  
Silvana B. Napoli ◽  
María Paula Vitale ◽  
Pablo J. Cafiero ◽  
María Belén Micheletti ◽  
Paula Pedernera Bradichansky ◽  
...  

Background: Autism spectrum disorder (ASD) affects the daily functioning of children and their families; however, in Argentina, there are no standardized tools to guide the description, evaluation, and follow-up of functioning and disability of children with ASD. To fill this gap, the overarching purpose of this study was to create a novel tool guided by the International Classification of Functioning, Disability, and Health (ICF) Core Sets for ASD for clinical practice. Methods: A multistep methodology was used to identify the most relevant ICF categories for an Argentinian clinical setting. The content of this ICF-based shortlist was piloted and revised according to the results. Subsequently, a toolbox of measures was proposed to operationalize each ICF category. Finally, profiles of the functioning of 100 children with ASD were created. Results: An ICF-based tool called TEA-CIFunciona was created, consisting of 32 ICF categories (10 body functions, 15 activities and participation, 7 environmental factors categories). The application of TEA-CIFunciona incorporated a family-centered approach in ASD evaluations and helped identify functional needs. Conclusions: TEA-CIFunciona is the first ICF-based instrument that guides the description of functioning of children with ASD in Argentina. TEA-CIFunciona standardizes collaborative assessments in pediatric ASD populations in Latin American contexts.


Author(s):  
Laurie McLay ◽  
Martina C. M. Schäfer ◽  
Larah van der Meer ◽  
Llyween Couper ◽  
Emma McKenzie ◽  
...  

2020 ◽  
pp. 1-11
Author(s):  
Kakia Petinou

<b><i>Objectives:</i></b> The study focused on promoting expressive phonological skills in 1 Greek-speaking child with autism spectrum disorder (ASD) and comorbid speech sound disorder (SSD). Based on the phonological neighborhood density framework, it was hypothesized that the experimental manipulation through clinical implementation of phonologically overlapping stimuli would yield positive expressive phonology gains relevant to ASD. <b><i>Participant and Methods:</i></b> A multiple-baseline single-subject design was implemented. Three baseline sessions measured expressive phonology variables. Sixteen biweekly 30-min intervention sessions were carried out for a period of 2 months. Dependent variables included phonetic inventory size, proportion of consonants correct, occurrences of phonological processes, and percentage of whole word matches elicited via specific word probe stimuli. The Intelligibility in Context Scale was completed by the child’s teacher prior to the initiation of intervention and at a follow-up session. Experimental stimuli were grouped together in phonologically dense cohorts. <b><i>Results:</i></b> Comparison between pre-test and post-test measures revealed expressive phonology gains across all measured variables. Follow-up session results showed generalization of expressive phonology gains on untreated targets. <b><i>Conclusions:</i></b> Significant expressive phonology gains were achieved through the implementation of phonologically similar word stimuli within a systematic intervention protocol with the implementation of specific word-level variables. The findings supported this treatment approach for a child with ASD and SSD, while providing evidence for the phonological density advantage from a cross-linguistic perspective.


2019 ◽  
Vol 45 (2) ◽  
pp. 121-130 ◽  
Author(s):  
Katherine E MacDuffie ◽  
Lauren Turner-Brown ◽  
Annette M Estes ◽  
Benjamin S Wilfond ◽  
Stephen R Dager ◽  
...  

Abstract Objective Predictive testing for familial disorders can guide healthcare and reproductive decisions. Familial disorders with onset in childhood (e.g., autism spectrum disorder [ASD]) are promising targets for presymptomatic prediction; however, little is known about parent perceptions of risk to their children in the presymptomatic period. The current study examined risk perceptions in parents of infants at high familial risk for ASD enrolled in a longitudinal study of brain and behavior development. Methods Semistructured interviews were conducted with 37 parents of high-risk infants during the presymptomatic window (3–15 months) that precedes an ASD diagnosis. Infants were identified as high familial risk due to having an older sibling with ASD. Parent interview responses were coded and interpreted to distill emerging themes. Results The majority of parents were aware of the increased risk of ASD for their infants, and risk perceptions were influenced by comparisons to their older child with ASD. Parents reported a variety of negative emotions in response to perceived risk, including worry, fear, and sadness, and described impacts of perceived risk on their behavior: increased vigilance to emerging symptoms, altered reproductive and healthcare decisions, and seeking ongoing assessment through research. Conclusions Parents of children at high familial risk for childhood-onset disorders like ASD face a period of challenging uncertainty during early development. In anticipation of a future in which presymptomatic testing for ASD is made available, it is important to understand how parents react to and cope with the elevated—but still highly uncertain—risk conveyed by family history.


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