1. Burgio E. The Raise of Neurodevelopmental Disorders (NDS): From Genetics to Epigenetics. Psychiatria Danubina. 2021; 33(Suppl 11): 40-1.

NDs are a collection of disorders that appear in the early stages of development and are variously associated with cognitive and behavioral dysfunctions. The strong heritability of these conditions (in particular autism and schizophrenia) argues in favor of a genetic origin. On the other hand, the massive increase in NDs implies a preponderant role of environmental factors and epigenetic mechanism (Panisi et al. 2021).

Lien vers le texte intégral (Open Access ou abonnement)

2. Caruso A, Micai M, Gila L, Fulceri F, Scattoni ML. The Italian Network for Early Detection of Autism Spectrum Disorder: Research Activities and National Policies. Psychiatria Danubina. 2021; 33(Suppl 11): 65-8.

BACKGROUND: Well-structured monitoring system is crucial to identify interventions for children with Neurodevelopmental Disorders (NDD). SUBJECTS AND METHODS: The NIDA Network enrolled more than 760 at risk for NDD and typically developing infants to detect early signs of NDD. RESULTS: The NIDA Network was born in some Italian regions to engage clinical centers in a research project. It is increasingly turning out to be a national monitoring project well integrated in the Italian National Health System policies. CONCLUSIONS: The NIDA Network activities are finalized at diagnosis and interventions to improve quality of life of children with NDD and their families.

Lien vers le texte intégral (Open Access ou abonnement)

3. Chien YL, Chen YC, Chiu YN, Tsai WC, Gau SS. A translational exploration of the effects of WNT2 variants on altered cortical structures in autism spectrum disorder. Journal of psychiatry & neuroscience : JPN. 2021; 46(6): E647-e58.

BACKGROUND: Evidence suggests that cortical anatomy may be aytpical in autism spectrum disorder. The wingless-type MMTV integration site family, member 2 (WNT2), a candidate gene for autism spectrum disorder, may regulate cortical development. However, it is unclear whether WNT2 variants are associated with altered cortical thickness in autism spectrum disorder. METHODS: In a sample of 118 people with autism spectrum disorder and 122 typically developing controls, we investigated cortical thickness using FreeSurfer software. We then examined the main effects of the WNT2 variants and the interactions of group × SNP and age × SNP for each hemisphere and brain region that was altered in people with autism spectrum disorder. RESULTS: Compared to neurotypical controls, people with autism spectrum disorder showed reduced mean cortical thickness in both hemispheres and 9 cortical regions after false discovery rate correction, including the right cingulate gyrus, the orbital gyrus, the insula, the inferior frontal gyrus (orbital part and triangular part), the lateral occipitotemporal gyrus, the posterior transverse collateral sulcus, the lateral sulcus and the superior temporal sulcus. In the full sample, 2 SNPs of WNT2 (rs6950765 and rs2896218) showed age × SNP interactions for the mean cortical thickness of both hemispheres, the middle-posterior cingulate cortex and the superior temporal cortex. LIMITATIONS: We examined the genetic effect for each hemisphere and the 9 regions that were altered in autism spectrum disorder. The age effect we found in this cross-sectional study needs to be examined in longitudinal studies. CONCLUSION: Based on neuroimaging and genetic data, our findings suggest that WNT2 variants might be associated with altered cortical thickness in autism spectrum disorder. Whether and how these WNT2 variants might involve cortical thinning requires further investigation. TRIAL REGISTRATION: ClinicalTrials.gov no. NCT01582256. PROTOCOL REGISTRATION: National Institutes of Health no. NCT00494754.

Lien vers le texte intégral (Open Access ou abonnement)

4. Hodges A, Cordier R, Joosten A, Bourke-Taylor H. Closing the Gap Between Theory and Practice: Conceptualisation of a School-Based Intervention to Improve the School Participation of Primary School Students on the Autism Spectrum and Their Typically Developing Peers. Journal of autism and developmental disorders. 2021.

Limited interventions exist that support student’s school participation. This paper describes a theoretical model of school participation and the iterative process that led to the development of an intervention that aims to improve the school participation of students on the autism spectrum and their typically developing peers. Literature on autism, school participation and intervention research were integrated to develop a theoretical model. Focus groups, a Delphi study, online surveys, and reference group consultation helped to develop and refine the intervention. A novel school-based intervention was developed. The impetus to develop interventions with a strong theoretical rationale is discussed.

Lien vers le texte intégral (Open Access ou abonnement)

5. Reis J, Marchini S, Delvenne V. The Transition from Child and Adolescent Mental Health Services (CAMHS) To Adult Mental Health Services (AMHS): What about Autism Spectrum Disorder?. Psychiatria Danubina. 2021; 33(Suppl 11): 52-7.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder and a long-term condition that may require psychiatric life-long care. Transition from Child and Adolescent Mental Health Services (CAMHS) to Adult Mental Health Services (AMHS) possibly concerns a great portion of patients with ASD. This study focuses on transitional age youth (TAY) with ASD and proposes specific innovative tools to manage the transition process. SUBJECTS AND METHODS: This explorative study focuses on TAY with ASD. Data on socio-demographic characteristics and personal medical history was collected. Three self-rated questionnaires were used: the Health of The Nation Outcome Scales For Children And Adolescents (HoNOSCA-SR), to assess care need, the World Health Organization Quality of Life-BREF (WHOQOL-BREF) scale and the Transition Readiness and Appropriateness Measure (TRAM), to evaluate barriers to functioning. RESULTS: The sample was composed of 10 patients with ASD aged from 17 to 18. The majority of them were male (70%) and born in Belgium (60%). The median (interquartile range) age of ASD diagnosis was 16 (13-17). The comorbidity rate was 60% for psychiatric disorders and 30% for somatic diseases; 80% of the participants were under psychotropic drugs. The average questionnaires scores were respectively: HoNOSCA-SR = 21.63 (±9.90), WHOQOL-BREF physical health = 50.88 (±19.14), psychological health = 36.13 (±13.97), social relationships = 48.50 (±18.23) and environment = 59.38 (±14.08); TRAM’s number of barriers to functioning were 4.25 (±1.39). CONCLUSIONS: These preliminary data, accompanied by current recommendations, allow to clarify the strategies to an optimal transition in ASD. Special insight is given to strategies to reach a well-managed transition from CAMHS to AMHS, such as the assessment of psychiatric and somatic comorbidities, the care need continuity, the elaboration, in advance, of a transition plan, the assessment of the barriers to functioning, and the involvement of young patients and their families.

Lien vers le texte intégral (Open Access ou abonnement)

6. Shawahna R. Self-rated familiarity with autism spectrum disorders among practicing nurses: a cross-sectional study in the palestinian nursing practice. BMC nursing. 2021; 20(1): 241.

BACKGROUND: Autism spectrum disorders (ASDs) are one of the most prevalent neurodevelopmental disabilities of early childhood. Practicing nurses are in a key position to help patients with ASDs and/or their caregivers/families. This study was conducted to assess self-rated familiarity with ASDs among practicing nurses in Palestine. The study also aimed to identify the sociodemographic and practice variables that could predict high self-rated familiarity scores. METHODS: This was a cross-sectional study using a questionnaire. The study was conducted in the period between January 2019 and May 2019. The questionnaire collected: 1) the sociodemographic, pedagogic, and practice variables of the nurses, 2) their self-rated familiarity with signs and symptoms, treatment options, and community resources of ASDs, 3) their self-rated confidence in their abilities to provide counseling for parents/family/caregivers on the drugs prescribed for children/patients with ASDs and their potential adverse effects, and 4) their willingness to receive education/training on issues in ASDs. RESULTS: The questionnaire was completed by 357 practicing nurses. The practicing nurses self-reported inadequate familiarity with symptoms, treatment, and community resources of ASDs. The mean familiarity score was 35.8% (SD: 18.9%). The nurses also expressed low confidence in their ability to provide counseling services to caregivers/families of children with ASDs. About 75% of the nurses agreed that they could benefit from taking a continuing educational/training program in the area of ASDs and about 82% of the nurses agreed that the nursing school curriculum should include courses in the area of ASDs. The multiple linear regression model showed that higher familiarity scores were predicted by having longer practical experience, having a higher academic degree in nursing, and having a continuing educational course/program on ASDs. CONCLUSION: Findings of this study highlighted inadequate familiarity with issues of ASDs among practicing nurses. Higher familiarity was predicted by the length of practical experience, higher academic degree in nursing, and having continuing educational course/program on ASDs. Specifically designed pedagogic interventions might be helpful in increasing familiarity of practicing nurses on ASDs. More investigations are still needed to evaluate if these interventions can improve familiarity and services provided to patients with ASDs.

Lien vers le texte intégral (Open Access ou abonnement)

7. Torenvliet C, Groenman AP, Radhoe TA, Agelink van Rentergem JA, Van der Putten WJ, Geurts HM. Parallel age-related cognitive effects in autism: A cross-sectional replication study. Autism research : official journal of the International Society for Autism Research. 2022; 15(3): 507-18.

Findings on age-related cognitive effects in autism in adulthood are inconsistent across studies. As these studies substantially differ in their methodology, replication studies are needed. In this replication study frequentist (i.e., null-hypothesis significance testing), and Bayesian statistics were used to investigate the hypothesis that in autistic adults compared to non-autistic adults mostly parallel, but also protective age-related cognitive effects can be observed. Participants were 88 autistic adults, and 88 non-autistic matched comparisons (age range: 30-89 years, mean age: 55 years). Cognitive measures were administered on the following six domains: verbal memory, visual memory, working memory, Theory of Mind (ToM), verbal fluency, and processing speed, and self-reported cognitive failures. Non-autistic adults outperformed autistic adults on ToM, verbal fluency, and verbal memory, but only the first two were confirmed with Bayesian replication analyses. Also, more cognitive failures were reported by autistic adults. No interactions between group and age were observed, suggesting a parallel age-related effect on all cognitive domains. In sum, previously observed difficulties in ToM and verbal fluency were replicated which seem to persist at older age. Previously reported parallel age-related cognitive patterns were replicated, yet no evidence for protective age-related patterns was found. LAY SUMMARY: We investigated whether our previous findings on cognitive aging in autism could be confirmed in a new study measuring the cognitive effects of age in autistic and non-autistic adults. As expected, tasks that younger autistic adults had difficulties with (theory of mind, fluency) were also difficult for older autistic adults, and the effect of age itself was similar in autistic and non-autistic adults. Unexpectedly, we observed no protective effects (less cognitive aging) in autism.

Lien vers le texte intégral (Open Access ou abonnement)

8. Wen J, Yang T, Zhu J, Guo M, Lai X, Tang T, Chen L, Chen J, Xue M, Li T. Retraction Note to: Vitamin A deficiency and sleep disturbances related to autism symptoms in children with autism spectrum disorder: a cross-sectional study. BMC pediatrics. 2021; 21(1): 547.

Lien vers le texte intégral (Open Access ou abonnement)