1. Byrne D, Fisher A, Baker L, Twomey EL, Gorman KM. Yield of brain MRI in children with autism spectrum disorder. European journal of pediatrics. 2023.

Autism spectrum disorder (ASD) is a common neurodevelopmental condition. The American Academy of Paediatrics and American Academy of Neurology do not recommend routine brain magnetic resonance imaging (MRI) in the assessment of ASD. The need for a brain MRI should be decided on atypical features in the clinical history and examination. However, many physicians continue to use brain MRI routinely in the assessment process. We performed a retrospective review of indications for requesting brain MRI in our institution over a 5-year period. The aim was to identify the yield of MRI in children with ASD and calculate the prevalence of significant neuroimaging abnormalities in children with ASD and identify clinical indications for neuroimaging. One hundred eighty-one participants were analysed. An abnormal brain MRI was identified in 7.2% (13/181). Abnormal brain MRI was more likely with an abnormal neurological examination (OR 33.1, p = 0.001) or genetic/metabolic abnormality (OR 20, p = 0.02). In contrast, abnormal MRI was not shown to be more likely in children with a variety of other indications such as behavioural issues and developmental delay. Conclusion: Thus, our findings support that MRI should not be a routine investigation in ASD, without additional findings. The decision to arrange brain MRI should be made on a case-by-case basis following careful evaluation of potential risks and benefits. The impact of any findings on the management course of the child should be considered prior to arranging imaging. What is Known: • Incidental brain MRI findings are common in children with and without ASD. • Many children with ASD undergo brain MRI in the absence of neurological comorbidities. What is New: • Brain MRI abnormalities in ASD are more likely with an abnormal neurological examination and genetic or metabolic conditions. • Prevalence of significant brain MRI abnormalities in ASD alone is low.

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2. Chen L, He X, Durrleman S. Acquisition of grammatical aspect by Mandarin-speaking preschool children with autism spectrum disorder. International journal of language & communication disorders. 2023.

BACKGROUND: Mandarin-speaking children with autism spectrum disorder (ASD) have difficulties producing aspect markers. The difficulties were explained in terms of pragmatic deficits since these children demonstrated strength in the comprehension of aspect markers using the Intermodal Preferential Looking (IPL) task. AIMS: To verify whether this dissociation between production and comprehension could be replicated using another technique to the IPL, and if all children with ASD show difficulties in the production of aspect markers. METHODS & PROCEDURES: A total of 34 children with ASD without cognitive delay, half with language impairment (ALI; mean age = 61.25 months old) and half with normal language (ALN, mean age = 61.52 months old), as well as 17 age-matched typically developing (TD) children (mean age = 61.38 months old) participated in a sentence-picture-matching task and a priming picture-description task to investigate their comprehension and production of Mandarin aspect markers zai-, -le and -zhe. OUTCOMES & RESULTS: In the comprehension task, children in the ALN group performed similarly to their TD peers, but those in the ALI group were less accurate on zai- and -le than TD children; children in all groups received higher accuracy when zai- was combined with Activity rather than Accomplishment verbs, and those in the ALI group was also more accurate when -le occurred with Achievement verbs, in contrast to Activity verbs. In the production task, children in the ALI group produced fewer targets and more irrelevant sentences with zai- than their TD peers, and they tended to produce bare verbs for -le and -zhe than TD children; children in all groups tended to combine zai- with Activity verbs, and those in the ALN group also tended to combine -le with Achievement verbs. CONCLUSIONS & IMPLICATIONS: The comprehension and production of Mandarin aspect markers by children with ASD are linked to general language abilities, and interactions between lexical and grammatical aspect. Patterns of performance are similar to those of TD peers only for the subgroup with spared global language, while pragmatic deficits are pervasive throughout the spectrum. Therefore, training on formal language, with a specific emphasis on aspectual rather than pragmatic abilities, may be more effective at enhancing the production of aspect markers. WHAT THIS PAPER ADDS: What is already known on this subject Mandarin-speaking children with ASD have difficulties producing aspect markers but demonstrate strengths in aspectual comprehension via the IPL task. Therefore, it has been proposed that their ‘specific’ difficulties in aspectual production should be ascribed to their pragmatic deficits. However, pragmatic deficits are highly pervasive in children with ASD while only a subgroup of children with ASD who are impaired in language development (children with ALI) show difficulties in producing tense/aspect morphology. Pursuing this reasoning, pragmatic deficits might not be the critical factor impacting the performance of children with ASD in aspectual production. What this study adds Children with ASD were divided into one group with ALI and the other with normal language (ALN). Results of a sentence-picture-matching and a priming picture-description task illustrated that both groups preserved the comprehension of Mandarin aspect markers zai-, -le and -zhe. However, children with ALI performed worse than age-matched TD children, while children with ALN demonstrated similar performance to TD children in aspectual production. These findings, coupled with the fact that pragmatic challenges affect individuals throughout the spectrum, suggest that general language abilities rather than pragmatics better explain the performance of children with ASD on aspectual production. What are the potential or actual clinical implications of this work? Since general language abilities rather than pragmatic deficits of children with ASD determine their performance on the production of aspect markers, direct training on the use of aspect markers or more global language therapy could benefit children with ASD in the production of aspect markers.

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3. Chen YH, Drye M, Chen Q, Fecher M, Liu G, Guthrie W. Delay from Screening to Diagnosis in Autism Spectrum Disorder: Results from a Large National Health Research Network. The Journal of pediatrics. 2023: 113514.

To examine delay from developmental screening to autism diagnosis, we used real-world healthcare data from a national research network to estimate the time between these events. We found an average delay of over 2 years from first screening to diagnosis, with no significant differences observed by sex, race, or ethnicity.

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4. Chou HC, Lin HC, Huang KH, Chang YC. Associations between neonatal jaundice and autism spectrum disorder or attention deficit hyperactivity disorder: Nationwide population based cohort study. Journal of the Formosan Medical Association = Taiwan yi zhi. 2023.

BACKGROUND/PURPOSE: Neonatal jaundice might result brain insults. Both autistic spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are developmental disorders, which might result from early brain injury at neonatal period. We aimed to explore the association between neonatal jaundice treated with phototherapy and the ASD or ADHD. METHODS: This retrospective nationwide population cohort study was based on a nationally representative database of Taiwan, and neonates born from 2004 to 2010 were enrolled. All eligible infants were divided into 4 groups, without jaundice, jaundice with no treatment, jaundice with simple phototherapy only and jaundice with intensive phototherapy or blood exchange transfusion (BET). Each infant was follow-up until the date of incident primary outcomes, death, or 7-year-old, whichever occurred first. Primary outcomes were ASD, ADHD. Using cox proportional hazard model to analyze their associations. RESULTS: In total, 118,222 infants with neonatal jaundice were enrolled, including diagnosed only (7260), simple phototherapy (82,990), intensive phototherapy or BET (27,972 infants). The cumulative incidences of ASD in each group was 0.57%, 0.81%, 0.77%, and 0.83%, respectively. The cumulative incidences of ADHD in each group was 2.83%, 4.04%, 3.52% and 3.48%, respectively. Jaundice groups were significantly associated with ASD, ADHD, or either one, even after all other extraneous maternal and neonatal variables were adjusted. After stratification, the associations were still existed in subgroup with birth weights ≥2500 grams and in male subgroup. CONCLUSIONS: Neonatal jaundice correlated with the ASD and ADHD. The associations were significant in infants of both sexes and with birth weights larger than 2500 grams.

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5. Erickson SR. Short Report: Where do caregivers of persons with intellectual or developmental disabilities obtain information about medication?. Research in developmental disabilities. 2023; 138: 104534.

BACKGROUND/AIMS/METHODS: Medication information is available from many sources. This short report provides a simple description of where caregivers of people with intellectual/developmental disability (IDD) obtain medication information, and compares these sources between family caregivers and direct support professionals (DSP). PROCEDURES/OUTCOMES: Cross-sectional study design using an internet-based survey of caregivers, aged 18 years or older, who provided support to adults with IDD. The primary outcome is the source of medication information reported by caregivers. RESULTS/CONCLUSIONS: Eighty-nine caregivers responded. Health care professionals were the primary source (87.6 %) of medication information, followed by the internet (77.5 %). There was no difference between caregiver groups for these two sources. The prescription label/information sheet was the next most common source (56.2 %), with significantly more family (76.2 %) versus DSP (38.3 %), p < 0.001. A medication reference was also common (43.8 %), with 28.6 % of family and 57.4 % of DSP, p = 0.006. House manager/nurse was next, with 16.9 %, and television/radio as a source (10.1 %), no difference between groups. Lastly, friends or coworkers were 7.9 %, with no DSP endorsing this option, p = 0.006. IMPLICATIONS: Caregivers obtain medication information from a variety of sources, with health care professionals being the primary source. The internet was also very common, which may be worrisome, due to the wide range of level of quality of information available. Educational interventions should be developed to provide caregivers with tools to be able identify and use legitimate medication information.

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6. Gray LJ, Durand H. Experiences of dysmenorrhea and its treatment among allistic and autistic menstruators: a thematic analysis. BMC women’s health. 2023; 23(1): 288.

BACKGROUND: Dysmenorrhea (i.e., period pain) is common and debilitating. Autistic people are known to experience pain differently, yet little is known about the menstrual pain experiences of autistic menstruators relative to non-autistic peers. This study aimed to explore the experience of period pain and treatment uptake for period pain among allistic and autistic populations. METHODS: This study used a qualitative design and opportunity sampling approach. Thirty-seven participants (of whom 17 were autistic) were interviewed via video-conferencing software using a semi-structured topic guide. Transcriptions of interviews were analysed using Braun and Clarke’s Reflexive Thematic Analysis. Data were initially analysed together for common themes. Autistic menstruators’ data was subsequently analysed separately to elucidate the unique experiences of this group. RESULTS: A total of six themes were constructed from the data. Initial analysis determined three themes related to experiences of period pain and treatment uptake in both allistic and autistic menstruators. Social perception of menstruation was discussed, highlighting the normalisation of pain, the taboo nature, and gendered experience of menstruation, contributing to untreated menstrual pain. Issues within menstrual healthcare were also shared, including experiences of ineffective treatment, dismissive interactions, and insufficient menstrual education. Impaired functionality was repeatedly highlighted, with menstruators detailing significant limitations to their usual functioning due to menstrual pain and ineffective treatment. Three further themes were constructed from separate analysis of data from autistic menstruators. Autistic menstruators discussed the impact of menstruation on their sensory experiences and needs, with many identifying overstimulation during menstruation. Social exclusion was discussed as a factor contributing to the experience of menstrual pain and poor treatment uptake. The final theme identified pain communication differences between autistic and allistic menstruators resulting in reports of ineffective treatment and challenges in healthcare interactions. CONCLUSIONS: Communication differences, sensory aspects, and social factors contributed to the experience of period pain and treatment uptake for autistic menstruators. The perception of menstruation within society was highlighted by allistic and autistic menstruators as influential to their pain experience and engagement with treatment. Functionality was significantly impacted by pain for this sample. The study highlights societal and healthcare factors that could be improved to ensure accessibility of support and treatment for menstrual issues.

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7. Katz J, Hunt J, Cammuso K, Moreno-De-Luca D. Development and Implementation of an Autism Spectrum and Intellectual Developmental Disorders Specialty Track Within Child and Adolescent Psychiatry Fellowship. Academic psychiatry : the journal of the American Association of Directors of Psychiatric Residency Training and the Association for Academic Psychiatry. 2023.

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8. Ko C, Lim JH, Hong J, Hong SB, Park YR. Development and Validation of a Joint Attention-Based Deep Learning System for Detection and Symptom Severity Assessment of Autism Spectrum Disorder. JAMA network open. 2023; 6(5): e2315174.

IMPORTANCE: Joint attention, composed of complex behaviors, is an early-emerging social function that is deficient in children with autism spectrum disorder (ASD). Currently, no methods are available for objectively quantifying joint attention. OBJECTIVE: To train deep learning (DL) models to distinguish ASD from typical development (TD) and to differentiate ASD symptom severities using video data of joint attention behaviors. DESIGN, SETTING, AND PARTICIPANTS: In this diagnostic study, joint attention tasks were administered to children with and without ASD, and video data were collected from multiple institutions from August 5, 2021, to July 18, 2022. Of 110 children, 95 (86.4%) completed study measures. Enrollment criteria were 24 to 72 months of age and ability to sit with no history of visual or auditory deficits. EXPOSURES: Children were screened using the Childhood Autism Rating Scale. Forty-five children were diagnosed with ASD. Three types of joint attention were assessed using a specific protocol. MAIN OUTCOMES AND MEASURES: Correctly distinguishing ASD from TD and different levels of ASD symptom severity using the DL model area under the receiver operating characteristic curve (AUROC), accuracy, precision, and recall. RESULTS: The analytical population consisted of 45 children with ASD (mean [SD] age, 48.0 [13.4] months; 24 [53.3%] boys) vs 50 with TD (mean [SD] age, 47.9 [12.5] months; 27 [54.0%] boys). The DL ASD vs TD models showed good predictive performance for initiation of joint attention (IJA) (AUROC, 99.6% [95% CI, 99.4%-99.7%]; accuracy, 97.6% [95% CI, 97.1%-98.1%]; precision, 95.5% [95% CI, 94.4%-96.5%]; and recall, 99.2% [95% CI, 98.7%-99.6%]), low-level response to joint attention (RJA) (AUROC, 99.8% [95% CI, 99.6%-99.9%]; accuracy, 98.8% [95% CI, 98.4%-99.2%]; precision, 98.9% [95% CI, 98.3%-99.4%]; and recall, 99.1% [95% CI, 98.6%-99.5%]), and high-level RJA (AUROC, 99.5% [95% CI, 99.2%-99.8%]; accuracy, 98.4% [95% CI, 97.9%-98.9%]; precision, 98.8% [95% CI, 98.2%-99.4%]; and recall, 98.6% [95% CI, 97.9%-99.2%]). The DL-based ASD symptom severity models showed reasonable predictive performance for IJA (AUROC, 90.3% [95% CI, 88.8%-91.8%]; accuracy, 84.8% [95% CI, 82.3%-87.2%]; precision, 76.2% [95% CI, 72.9%-79.6%]; and recall, 84.8% [95% CI, 82.3%-87.2%]), low-level RJA (AUROC, 84.4% [95% CI, 82.0%-86.7%]; accuracy, 78.4% [95% CI, 75.0%-81.7%]; precision, 74.7% [95% CI, 70.4%-78.8%]; and recall, 78.4% [95% CI, 75.0%-81.7%]), and high-level RJA (AUROC, 84.2% [95% CI, 81.8%-86.6%]; accuracy, 81.0% [95% CI, 77.3%-84.4%]; precision, 68.6% [95% CI, 63.8%-73.6%]; and recall, 81.0% [95% CI, 77.3%-84.4%]). CONCLUSIONS AND RELEVANCE: In this diagnostic study, DL models for identifying ASD and differentiating levels of ASD symptom severity were developed and the premises for DL-based predictions were visualized. The findings suggest that this method may allow digital measurement of joint attention; however, follow-up studies are necessary for further validation.

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9. Martel M, Finos L, Bahmad S, Koun E, Salemme R, Sonié S, Fourneret P, Schmitz C, Roy AC. Motor deficits in autism differ from that of developmental coordination disorder. Autism : the international journal of research and practice. 2023: 13623613231171980.

A vast majority of individuals with autism spectrum disorder experience impairments in motor skills. Those are often labelled as additional developmental coordination disorder despite the lack of studies comparing both disorders. Consequently, motor skills rehabilitation programmes in autism are often not specific but rather consist in standard programmes for developmental coordination disorder. Here, we compared motor performance in three groups of children: a control group, an autism spectrum disorder group and a developmental coordination disorder group. Despite similar level of motor skills evaluated by the standard movement assessment battery for children, in a Reach-to-Displace Task, children with autism spectrum disorder and developmental coordination disorder showed specific motor control deficits. Children with autism spectrum disorder failed to anticipate the object properties, but could correct their movement as well as typically developing children. In contrast, children with developmental coordination disorder were atypically slow, but showed a spared anticipation. Our study has important clinical implications as motor skills rehabilitations are crucial to both populations. Specifically, our findings suggest that individuals with autism spectrum disorder would benefit from therapies aiming at improving their anticipation, maybe through the support of their preserved representations and use of sensory information. Conversely, individuals with developmental coordination disorder would benefit from a focus on the use of sensory information in a timely fashion.

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10. Martín-Díaz P, Carratalá-Tejada M, Molina-Rueda F, Cuesta-Gómez A. Reliability and agreement of the timed up and go test in children and teenagers with autism spectrum disorder. European journal of pediatrics. 2023: 1-9.

ASD patients include a variety of motor deficits; however, these issues have received less scientific attention than other ASD symptoms. Due to understanding and behavioral difficulties, it might be difficult to administer motor assessment measures to children and adolescents with ASD. To evaluate motor challenges in this population, including gait and dynamic balance issues, the timed up and go test (TUG) may be a simple, easy to apply, quick, and inexpensive tool. This test measures in seconds the time it takes for an individual to get up from a standard chair walk 3 m, turn around, walk back to the chair, and sit down again. The study purpose was to evaluate the inter- and intra-rater reliability of TUG test in children and teenagers with ASD. A total of 50 children and teenagers with ASD (43 boys and 7 girls) between 6 and 18 years were included. Reliability was verified by the intraclass correlation coefficient, standard error of measurement, and minimum detectable change. The agreement was analyzed by the Bland-Altman method. A good intra-rater reliability (ICC = 0.88; 95% CI = 0.79-0.93) and an excellent inter-rater reliability (ICC = 0,99; 95% CI = 0.98 to 0.99) were observed. Additionally, Bland-Altman plots demonstrated that there was no evidence of bias in either the replicates or between examiners. Furthermore, the limits of agreement (LOAs) between the testers and test replicates were close, indicating that there was little variation between measurements. Conclusions: The test TUG showed strong intra- and inter-rater reliability values, low proportion of measurement errors, and lack of significant bias based on by test repetition in children and teenagers with ASD. These results could be clinically useful for assessing balance and the risk of falls in children and teenagers with ASD. However, the present study is not free of limitations, such as the use of a non-probabilistic sampling. What is Known: • People with ASD have a variety of motor deficits that have a prevalence rate almost as common as intellectual disability. In our knowledge, there are no studies that provide data on the reliability of the use of scales or assessment tests in children and adolescents with ASD to measure motor difficulties, such as gait and dynamic balance, in children and teenagers with ASD. • Timed up and go test (TUG) could be a possible tool to measure this motor skills. What is New: • The reliability and agreement of the Timed up and go test in 50 children and teenagers with autism spectrum disorder showed strong intra- and inter-rater reliability values, low proportion of measurement errors, and lack of significant bias based on by test repetition.

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11. Matthiesen M, Khlaifia A, Steininger CFD, Jr., Dadabhoy M, Mumtaz U, Arruda-Carvalho M. Maturation of nucleus accumbens synaptic transmission signals a critical period for the rescue of social deficits in a mouse model of autism spectrum disorder. Molecular brain. 2023; 16(1): 46.

Social behavior emerges early in development, a time marked by the onset of neurodevelopmental disorders featuring social deficits, including autism spectrum disorder (ASD). Although social deficits are at the core of the clinical diagnosis of ASD, very little is known about their neural correlates at the time of clinical onset. The nucleus accumbens (NAc), a brain region extensively implicated in social behavior, undergoes synaptic, cellular and molecular alterations in early life, and is particularly affected in ASD mouse models. To explore a link between the maturation of the NAc and neurodevelopmental deficits in social behavior, we compared spontaneous synaptic transmission in NAc shell medium spiny neurons (MSNs) between the highly social C57BL/6J and the idiopathic ASD mouse model BTBR T(+)Itpr3(tf)/J at postnatal day (P) 4, P6, P8, P12, P15, P21 and P30. BTBR NAc MSNs display increased spontaneous excitatory transmission during the first postnatal week, and increased inhibition across the first, second and fourth postnatal weeks, suggesting accelerated maturation of excitatory and inhibitory synaptic inputs compared to C57BL/6J mice. BTBR mice also show increased optically evoked medial prefrontal cortex-NAc paired pulse ratios at P15 and P30. These early changes in synaptic transmission are consistent with a potential critical period, which could maximize the efficacy of rescue interventions. To test this, we treated BTBR mice in either early life (P4-P8) or adulthood (P60-P64) with the mTORC1 antagonist rapamycin, a well-established intervention for ASD-like behavior. Rapamycin treatment rescued social interaction deficits in BTBR mice when injected in infancy, but did not affect social interaction in adulthood.

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12. Mazza M, Donne IL, Vagnetti R, Attanasio M, Paola Greco M, Chiara Pino M, Valenti M. Normative values and diagnostic optimisation of three social cognition measures for autism and schizophrenia diagnosis in a healthy adolescent and adult sample. Quarterly journal of experimental psychology (2006). 2023: 17470218231175613.

Awareness of the importance of assessing social cognition skills under conditions showing atypical social behaviours has increased over the years. However, the evaluation of the psychometric properties of the measures and the availability of normative values for the clinical context are still limited. This study aims to revise, provide normative values, and evaluate the clinical validity of the Italian version of three social cognition measures: Advanced Theory of Mind (A-ToM) task, the Emotion Attribution Task (EAT), and the Social Situation Task (SST). Measures were administered to 580 adolescents and adult healthy controls (age range 14-50). We performed differential item functioning and Rasch analysis to revise each task, so normative data of the revised measures were calculated. Moreover, the revised measures were administered to 38 individuals with autism spectrum disorder (ASD) and 35 individuals with schizophrenia spectrum disorders (SSD): ASD and SSD were matched by age, gender, and IQ with a control sample to evaluate clinical validity. ROC analysis showed that the SST is the best measure differentiating between healthy and clinical groups, compared to the A-ToM (AUC(ASD) = 0.70; AUC(SSD) = 0.65) and EAT (AUC(ASD) = 0.67; AUC(SSD) = 0.50), which showed poorer performance. For SSD diagnosis, two SST subscales (Violation and Gravity score) indicated the best accuracy (AUCs of 0.88 and 0.84, respectively); for the ASD diagnosis, we propose a combined score between the SST subscale and A-ToM (AUC = 0.86). The results suggest that the proposed measures can be used to support the diagnostic process and clinical practice.

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13. Openshaw RL, Thomson DM, Bristow GC, Mitchell EJ, Pratt JA, Morris BJ, Dawson N. 16p11.2 deletion mice exhibit compromised fronto-temporal connectivity, GABAergic dysfunction, and enhanced attentional ability. Communications biology. 2023; 6(1): 557.

Autism spectrum disorders are more common in males, and have a substantial genetic component. Chromosomal 16p11.2 deletions in particular carry strong genetic risk for autism, yet their neurobiological impact is poorly characterised, particularly at the integrated systems level. Here we show that mice reproducing this deletion (16p11.2 DEL mice) have reduced GABAergic interneuron gene expression (decreased parvalbumin mRNA in orbitofrontal cortex, and male-specific decreases in Gad67 mRNA in parietal and insular cortex and medial septum). Metabolic activity was increased in medial septum, and in its efferent targets: mammillary body and (males only) subiculum. Functional connectivity was altered between orbitofrontal, insular and auditory cortex, and between septum and hippocampus/subiculum. Consistent with this circuit dysfunction, 16p11.2 DEL mice showed reduced prepulse inhibition, but enhanced performance in the continuous performance test of attentional ability. Level 1 autistic individuals show similarly heightened performance in the equivalent human test, also associated with parietal, insular-orbitofrontal and septo-subicular dysfunction. The data implicate cortical and septal GABAergic dysfunction, and resulting connectivity changes, as the cause of pre-attentional and attentional changes in autism.

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14. Pereira BA, Hamsho N, Susilo A, Famolare GM, Blacher J, Eisenhower A. Longitudinal associations between internalizing behaviors and social skills for autistic students during the early school years. School psychology (Washington, DC). 2023.

Autistic students experience greater social difficulties and heightened internalizing behaviors (e.g., anxiety, depression, withdrawal) relative to their nonautistic peers, yet little is known about how these domains influence one another over time. This 1.5-year longitudinal study analyzed the associations between teacher-reported social skills and internalizing behaviors across three time points for 177 autistic students aged 4-7 years. Cross-lagged panel analyses indicated an association between earlier internalizing behaviors and later social skills for autistic students, whereby lower internalizing behaviors predicted greater growth in social skills from one school year to the next. These changes in social skills followed children across multiple teachers and classroom contexts. The opposite cross-lagged path was not supported as early social skills did not predict changes in internalizing behaviors over time. Internalizing behaviors showed similar associations with later social skills for autistic students regardless of cognitive ability, for those in general and special education classrooms, and for those whose teachers did and did not have autism-specific training. Findings suggest that promoting students’ early emotional well-being and targeting internalizing behaviors may indirectly enable social development over time. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

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15. Pomi FL, Macca L, Peterle L, Romeo P, Vaccaro M, Borgia F. Photodynamic therapy for intergluteal warts in a child affected by Rett syndrome. Photodiagnosis and photodynamic therapy. 2023: 103620.

Genital warts (GWs) are the most common sexually transmitted infections worldwide, caused by the human papillomavirus (HPV). The increasing prevalence of GWs in children has renewed the interest in therapeutic management which still presents a unique challenge, being influenced by many variables including size, quantity, and location of warts, as well as the presence of comorbidities. Conventional photodynamic therapy (C-PDT) has already shown encouraging results in the treatment of viral warts in adult patients, but its use is still not standardized in the pediatric population. On this topic, we report our experience with C-PDT in a difficult-to-treat area like the perianal region in a 12-year-old girl affected by Rett syndrome, an X-linked dominant neurological disorder, with a 10-month history of florid genital condylomatosis. After the third session of C-PDT, complete clearance of the lesions was achieved. Our case is paradigmatic of the potentiality of PDT to treat difficult lesions in difficult patients. Despite being expensive and time-consuming, this procedure has been demonstrated to be safe and well-tolerated. Lastly, the therapy is also well accepted by parents, due to its minimal invasiveness and the few side effects, compared to the other therapeutic options.

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16. Shayestehfar M, Jahandideh P, Hariri R, Shayestehfar M, Memari A. Designing a minimum dataset for autism spectrum disorder registry in Iran. Annals of medicine and surgery (2012). 2023; 85(5): 2273-7.

The reported prevalence of autism spectrum disorders (ASDs) has been showing a marked increase over the past 20 years. Therefore, a uniform data gathering system for ASD registration could prominently enhance plans for managing ASD worldwide. So, in the current investigation the authors aimed to design and validate the Persian version of a minimum dataset (MDS) for being administered in the national ASD registries. METHODS: The current study is a mixed-method study with both quantitative and qualitative methods providing and validating a form of MDS in four phases according to Delphi method. The proposed MDS consisted of 11 categories containing coding responses. Content validity (CV) was evaluated based on 20 expert’s suggestions and opinions. Item-CV Index (I-CVI) and Scale-CVI were administered to evaluate and validate the items and questions in the proposed MDS. RESULTS: Twenty researchers from different disciplines scored each question and item. By taking into account the scores, the validity appraisal was provided for each item by computing the I-CVI value. Results showed that 41 out of 76 items had the value I-CVI less than 0.78 and were kept as relevant; 35 items were eliminated due to a value below 0.70. The Scale-CVI /Ave of the relevance for the entire form was 0.9396. CONCLUSION: The Persian version of MDS for ASD registry was found to be valid. Such MDS can be utilitarian for health cares and policymaking purposes by gathering and updating standard data for developing local and national registries.

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17. Shrestha M, Shrestha N, Khand Y, Sherpa L. Perceived caregiver’s burden among children with autism spectrum disorder in central Nepal: a cross-sectional study. Annals of medicine and surgery (2012). 2023; 85(5): 1673-7.

Autism spectrum disorder (ASD) is the most common childhood neurodevelopmental disorder characterized by an atypical social and communicative functioning and restricted, repetitive patterns of behaviour activities. Caring for children with ASD is challenging for both parents and their caregivers. This study aims to explore the psychosocial burden of the caregivers of children with ASD. MATERIALS AND METHODOLOGY: An analytical cross-sectional study was performed in Centre for Autism in Kathmandu, Nepal. The enrolment occurred between January 2022 and July 2022 among the caregivers of children with ASD. One hundred twenty caregivers in contact with the centre was evaluated using the Zarit Burden Interview-22 during the study period meeting inclusion criteria. RESULTS: Our study showed that majority of caregivers among child with ASD were mothers 65 (54.16%, n=65) followed by grandparents 35 (29.16%, n=35) and father 13 (10.8%), respectively. Among them, most of the caregivers perceived moderate to severe burden 57 (47.5%) followed by mild to moderate burden 45 (37.5%) and only 7 (5.8%) of the caregivers perceived severe burden during the study which was found to be statistically significant. CONCLUSIONS: This study highlighted the fact that although most of the caregivers perceived moderate to severe burden while caring a child with ASD. The degree of burden significantly correlated with the level of ASD in the child.

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18. Valicenti-McDermott M, Barresi I, Rosenthal M, Seijo R. Screening for Hearing Impairment in School-Age Children and Adolescents With Developmental Disabilities in an Ethnically Diverse Community. Clinical pediatrics. 2023: 99228231176344.

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19. Wadle SL, Schmitt TTX, Engel J, Kurt S, Hirtz JJ. Altered population activity and local tuning heterogeneity in auditory cortex of Cacna2d3-deficient mice. Biological chemistry. 2023; 404(6): 607-17.

The α(2)δ3 auxiliary subunit of voltage-activated calcium channels is required for normal synaptic transmission and precise temporal processing of sounds in the auditory brainstem. In mice its loss additionally leads to an inability to distinguish amplitude-modulated tones. Furthermore, loss of function of α(2)δ3 has been associated with autism spectrum disorder in humans. To investigate possible alterations of network activity in the higher-order auditory system in α(2)δ3 knockout mice, we analyzed neuronal activity patterns and topography of frequency tuning within networks of the auditory cortex (AC) using two-photon Ca(2+) imaging. Compared to wild-type mice we found distinct subfield-specific alterations in the primary auditory cortex, expressed in overall lower correlations between the network activity patterns in response to different sounds as well as lower reliability of these patterns upon repetitions of the same sound. Higher AC subfields did not display these alterations but showed a higher amount of well-tuned neurons along with lower local heterogeneity of the neurons’ frequency tuning. Our results provide new insight into AC network activity alterations in an autism spectrum disorder-associated mouse model.

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20. Xie X, Li K, Liang X, Tian L, Lin B, Yan J, Shi Y, Liu X, Xi Z. Identification and characterization of circular RNA in the model of autism spectrum disorder from PM(2.5) exposure. Frontiers in genetics. 2023; 14: 970465.

PM(2.5) induces a series of effects on neurological disorders, including autism spectrum disorder (ASD), however, the mechanism is not completely clear yet. Circular RNAs (circRNAs) are a class of closed-loop structures that can be stably expressed in vivo. In our experiments, rats exposed to PM(2.5) exhibited autism-like phenotypes, such as anxiety, and memory loss. To explore the etiology, we performed transcriptome sequencing and found significant differences in the expression of circRNA. A total of 7770 circRNAs were identified between the control and experimental groups, 18 of which were differentially expressed, we selected ten circRNAs and performed qRT-PCR and Sanger sequencing to validate them. By GO and KEGG enrichment analysis, we found differentially expressed circRNAs that were mainly enriched in processes related to placental development and reproduction. Finally, using bioinformatics, we predicted miRNAs and mRNAs that circ-Mbd5 and circ-Ash1l might regulate and constructed circRNA-miRNA-mRNA networks involving genes associated with ASD, suggesting that circRNAs might regulate the occurrence of ASD.

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