1. Aftab R, Pirani S, Mansoor M, Nadeem T. Caregiver Strain and its Associated Factors in Autism Spectrum Disorder in Karachi, Pakistan. Journal of the College of Physicians and Surgeons–Pakistan : JCPSP. 2023; 33(7): 784-8.

OBJECTIVE: To determine the frequency of caregiver strain and its associated factors in Autism Spectrum Disorder (ASD) at a tertiary care teaching hospital in Karachi, Pakistan. STUDY DESIGN: An analytical cross-sectional study. Place and Duration of the Study: Psychiatry inpatient and outpatient units at The Aga Khan University Hospital, Karachi, Pakistan, from December 2018 to December 2019. METHODOLOGY: The study participants were caregivers of ASD. Data were collected from the inpatient and outpatient departments using Caregiver Strain Questionnaire (CGSQ), and a demographic questionnare. Data were analysed using descriptive and inferential analysis. RESULTS: A total of 76 caregivers participated in the study. Among them, 61 (80.3%) were females and 15 (19.7%) were males, with mean age of 37.09±6.91 years. The overall caregiver strain (both subjective and objective) was reported to be severe by 11.8%, moderate by 47.4% and low by 40.8%. About 50% of the participants had a low objective strain on CGSQ whereas 59.2% of the participants subjectively felt the strain to be at moderate level. An association was found between the gender of the participants and subjective strain (p=0.016), and gender with internalised subjective strain (p =0.002). CONCLUSION: Parenting of a child with ASD involves challenges and demands support. This study supports the recommendation that the caregivers need access to appropriate means to channelize their strain and manage their role productively. KEY WORDS: Autism, ASD, Stress, Burden, Caregiver, CGSQ, Pakistan.

Lien vers le texte intégral (Open Access ou abonnement)

2. Farkas K, Pesthy O, Janacsek K, Németh D. Interpersonal Distance Theory of Autism and Its Implication for Cognitive Assessment, Therapy, and Daily Life. Perspectives on psychological science : a journal of the Association for Psychological Science. 2023: 17456916231180593.

The interpersonal distance (IPD) theory provides a novel approach to studying autism spectrum disorder (ASD). In this article, we present recent findings on the neurobiological underpinnings of IPD regulation that are distinct in individuals with ASD. We also discuss the potential influence of environmental factors on IPD. We suggest that different IPD regulation may have implications for cognitive performance in experimental and diagnostic settings, may influence the effectiveness of training and therapy, and may play a role in the typical forms of social communication and leisure activities chosen by autistic individuals. We argue that reconsidering the results of ASD research through the lens of IPD would lead to a different interpretation of previous findings. Finally, we propose a methodological approach to study this phenomenon systematically.

Lien vers le texte intégral (Open Access ou abonnement)

3. Lott-Sandkamp LL, Spengler FB, Heinrichs M. Impairment in reading negative social cues extends beyond the face in autism. Journal of psychiatric research. 2023; 164: 350-6.

Nonverbal expressions are essential to regulating social communication and interaction. Impaired emotion recognition from facial expressions has been linked to various psychiatric conditions characterized by severe social deficits such as autism. As body expressions as an additional source of social-emotional information have attracted little research attention, little is known about whether emotion recognition impairments are specific to faces, or extend to body expressions. This study explored and compared emotion recognition from face versus body expressions in autism spectrum disorder. We compared 30 men with autism spectrum disorder to 30 male age- and IQ-matched control participants in their ability to recognize angry, happy, and neutral expressions from dynamic face and body expressions. Participants with autism spectrum disorder showed impaired recognition of angry expressions from both faces and bodies, while there were no group differences in recognizing happy and neutral expressions. In autism spectrum disorder, recognizing angry face expressions was inversely predicted by gaze avoidance, while recognizing angry body expressions was inversely predicted by impairments in social interaction and autistic traits. These findings suggest that distinct mechanisms may underlie the impaired emotion recognition from face and body expressions in autism spectrum disorder, respectively. Overall, our study demonstrates that emotion-specific recognition difficulties in autism spectrum disorder are not limited to face expressions but extend to emotional body expressions.

Lien vers le texte intégral (Open Access ou abonnement)

4. Manning C, Williams G, MacLennan K. Sensory-inclusive spaces for autistic people: We need to build the evidence base. Autism : the international journal of research and practice. 2023: 13623613231183541.

Lien vers le texte intégral (Open Access ou abonnement)

5. Shah S, Sharp KJ, Raju Ponny S, Lee J, Watts JK, Berry-Kravis E, Richter JD. Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP. Proceedings of the National Academy of Sciences of the United States of America. 2023; 120(27): e2302534120.

Aberrant alternative splicing of mRNAs results in dysregulated gene expression in multiple neurological disorders. Here, we show that hundreds of mRNAs are incorrectly expressed and spliced in white blood cells and brain tissues of individuals with fragile X syndrome (FXS). Surprisingly, the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene is transcribed in >70% of the FXS tissues. In all FMR1-expressing FXS tissues, FMR1 RNA itself is mis-spliced in a CGG expansion-dependent manner to generate the little-known FMR1-217 RNA isoform, which is comprised of FMR1 exon 1 and a pseudo-exon in intron 1. FMR1-217 is also expressed in FXS premutation carrier-derived skin fibroblasts and brain tissues. We show that in cells aberrantly expressing mis-spliced FMR1, antisense oligonucleotide (ASO) treatment reduces FMR1-217, rescues full-length FMR1 RNA, and restores FMRP (Fragile X Messenger RibonucleoProtein) to normal levels. Notably, FMR1 gene reactivation in transcriptionally silent FXS cells using 5-aza-2′-deoxycytidine (5-AzadC), which prevents DNA methylation, increases FMR1-217 RNA levels but not FMRP. ASO treatment of cells prior to 5-AzadC application rescues full-length FMR1 expression and restores FMRP. These findings indicate that misregulated RNA-processing events in blood could serve as potent biomarkers for FXS and that in those individuals expressing FMR1-217, ASO treatment may offer a therapeutic approach to mitigate the disorder.

Lien vers le texte intégral (Open Access ou abonnement)

6. Shen Y, Pang G. Electrocardiography in children with autism. Asian journal of surgery. 2023.

Lien vers le texte intégral (Open Access ou abonnement)

7. Tupou J, Ataera C, Wallace-Watkin C, Waddington H. Supporting tamariki takiwātanga Māori (autistic Māori children): Exploring the experience of early childhood educators. Autism : the international journal of research and practice. 2023: 13623613231181622.

The knowledge and attitudes of educators can have a strong influence on the experiences of autistic children who attend inclusive early childhood settings. Autistic children from under-represented ethnic groups, for example, tamariki takiwātanga Māori (autistic Māori children), are likely to face extra challenges and educators need to consider ways to support their cultural development. For this study, we interviewed 12 educators with recent experience supporting tamariki takiwātanga Māori in inclusive early childhood settings. We constructed three themes and seven subthemes from the interview data. We found that educators’ understandings of autism were mostly in line with the neurodiversity perspective, which views autism as a difference, not a disorder. We also found similarities between the neurodiversity perspective and Māori perspectives of autism and a need for more training and resources based upon a Māori world view and available in te reo Māori (the Māori language).

Lien vers le texte intégral (Open Access ou abonnement)

8. Vellingiri B, Venkatesan D, Iyer M, Mohan G, Krishnan P, Krishna KS, R S, Narayanasamy A, Gopalakrishnan AV, Kumar NS, Subramaniam MD. Correction: Concurrent Assessment of Oxidative Stress and MT-ATP6 Gene Profiling to Facilitate Diagnosis of Autism Spectrum Disorder (ASD) in Tamil Nadu Population. Journal of molecular neuroscience : MN. 2023.

Lien vers le texte intégral (Open Access ou abonnement)

9. Zambrano S, Parma B, Morabito V, Borini S, Romaniello R, Molteni M, Mani E, Selicorni A. Celiac disease in autism spectrum disorder: data from an Italian child cohort. Italian journal of pediatrics. 2023; 49(1): 79.

BACKGROUND: In recent decades some studies described the frequent co-occurrence of celiac disease autoimmunity and overt celiac disease in patients with autism. Therefore, it was suggested that celiac disease could play a possible role in the etiopathogenesis of autism spectrum disorder. However, several other studies have not confirmed this association. The aim of the present study was to elucidate the potential association between autism spectrum disorder and celiac disease. METHODS: We prospectively collected data from an Italian cohort of 223 children at the time of their clinical diagnosis of autism spectrum disorder in the 2019-2020 period. A serological celiac disease screening was performed and data were available for 196 patients; male (M):female (F) ratio = 4.4:1; median age = 3.6 years; age range = 1.6-12.8 years. Full-blown celiac disease was established according to the diagnostic algorithm of the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) 2012 or 2019 guidelines. Fisher’s exact test was used to compare the celiac disease seroprevalence and prevalence in our autism spectrum disorder cohort and in the Italian healthy pediatric population studied by Gatti et al. to highlight the possible differences between the two groups. RESULTS: A not statistically significant difference between the celiac disease seroprevalence in our autism spectrum disorder cohort (4.08%) and Gatti’s Italian healthy group (2.22%) was found, p = 0.0810; OR = 1.871. A similar result emerged for overt celiac disease prevalences (2.24% versus 1.58%, respectively), p = 0.2862; OR = 1.431. CONCLUSIONS: Our data validates a weakness of association between autism spectrum disorder and celiac disease. On the basis of our results, a regular screening for CD in patients with ASD is not recommended to a greater extent than in the general population.

Lien vers le texte intégral (Open Access ou abonnement)

10. Zhao W, Liu Q, Zhang X, Song X, Zhang Z, Qing P, Liu X, Zhu S, Yang W, Kendrick KM. Differential responses in the mirror neuron system during imitation of individual emotional facial expressions and association with autistic traits. NeuroImage. 2023; 277: 120263.

The mirror neuron system (MNS), including the inferior frontal gyrus (IFG), inferior parietal lobule (IPL) and superior temporal sulcus (STS) plays an important role in action representation and imitation and may be dysfunctional in autism spectrum disorder (ASD). However, it’s not clear how these three regions respond and interact during the imitation of different basic facial expressions and whether the pattern of responses is influenced by autistic traits. Thus, we conducted a natural facial expression (happiness, angry, sadness and fear) imitation task in 100 healthy male subjects where expression intensity was measured using facial emotion recognition software (FaceReader) and MNS responses were recorded using functional near-infrared spectroscopy (fNIRS). Autistic traits were measured using the Autism Spectrum Quotient questionnaire. Results showed that imitation of happy expressions produced the highest expression intensity but a small deactivation in MNS responses, suggesting a lower processing requirement compared to other expressions. A cosine similarity analysis indicated a distinct pattern of MNS responses during imitation of each facial expression with functional intra-hemispheric connectivity between the left IPL and left STS being significantly higher during happy compared to other expressions, while inter-hemispheric connectivity between the left and right IPL differed between imitation of fearful and sad expressions. Furthermore, functional connectivity changes during imitation of each different expression could reliably predict autistic trait scores. Overall, the results provide evidence for distinct patterns of functional connectivity changes between MNS regions during imitation of different emotions which are also associated with autistic traits.

Lien vers le texte intégral (Open Access ou abonnement)