1. Beckerson ME, Kerr-German AN, Buss AT. Examining the relationship between functional connectivity and broader autistic traits in non-autistic children. Child Neuropsychol;2024 (Aug 6):1-22.

In the current study, we used functional near-infrared spectroscopy (fNIRS) to examine functional connectivity (FC) in relation to measures of cognitive flexibility and autistic features in non-autistic children. Previous research suggests that disruptions in FC between brain regions may underlie the cognitive and behavioral traits of autism. Moreover, research has identified a broader autistic phenotype (BAP), which refers to a set of behavioral traits that fall along a continuum of behaviors typical for autism but which do not cross a clinically relevant threshold. Thus, by examining FC in relation to the BAP in non-autistic children, we can better understand the spectrum of behaviors related to this condition and their neural basis. Results indicated age-related differences in performance across three measures of cognitive flexibility, as expected given the rapid development of this skill within this time period. Additionally, results showed that across the flexibility tasks, measures of autistic traits were associated with weaker FC along the executive control network, though task performance was not associated with FC. These results suggest that behavioral scores may be less sensitive than neural measures to autistic traits. Further, these results corroborate the use of broader autistic traits and the BAP to better understand disruptions to neural function associated with autism.

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2. Benabderrahmane B, Gharzouli M, Benlecheb A. A novel multi-modal model to assist the diagnosis of autism spectrum disorder using eye-tracking data. Health Inf Sci Syst;2024 (Dec);12(1):40.

BACKGROUND AND OBJECTIVE: Timely and accurate detection of Autism Spectrum Disorder (ASD) is essential for early intervention and improved patient outcomes. This study aims to harness the power of machine learning (ML) techniques to improve ASD detection by incorporating temporal eye-tracking data. We developed a novel ML model to leverage eye scan paths, sequences of distances of eye movement, and a sequence of fixation durations, enhancing the temporal aspect of the analysis for more effective ASD identification. METHODS: We utilized a dataset of eye-tracking data without augmentation to train our ML model, which consists of a CNN-GRU-ANN architecture. The model was trained using gaze maps, the sequences of distances between eye fixations, and durations of fixations and saccades. Additionally, we employed a validation dataset to assess the model’s performance and compare it with other works. RESULTS: Our ML model demonstrated superior performance in ASD detection compared to the VGG-16 model. By incorporating temporal information from eye-tracking data, our model achieved higher accuracy, precision, and recall. The novel addition of sequence-based features allowed our model to effectively distinguish between ASD and typically developing individuals, achieving an impressive precision value of 93.10% on the validation dataset. CONCLUSION: This study presents an ML-based approach to ASD detection by utilizing machine learning techniques and incorporating temporal eye-tracking data. Our findings highlight the potential of temporal analysis for improved ASD detection and provide a promising direction for further advancements in the field of eye-tracking-based diagnosis and intervention for neurodevelopmental disorders.

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3. Chen B, Xu X, Wang Y, Yang Z, Liu C, Zhang T. VPA-induced autism impairs memory ability through disturbing neural oscillatory patterns in offspring rats. Cogn Neurodyn;2024 (Aug);18(4):1563-1574.

Autism spectrum disorder (ASD) is a general neurodevelopmental disease characterized by unusual social communication and rigid, repetitive behavior patterns. The purpose of this study was to investigate the effects of ASD on the alteration of neural oscillatory patterns and synaptic plasticity, which commonly supported a wide range of basic and higher memory activities. Accordingly, a prenatal valproic acid (VPA) exposure rat model was established for studying autism. The behavioral experiments showed that the social orientation declined and the memory ability was significantly impaired in VPA rats, which was closely associated with the synaptic plasticity deficits. Neural oscillation is the rhythmic neuron-activity, and the pathological characteristics and neurological changes in autism may be peeped at the neural oscillatory analysis. Interestingly, neural oscillatory analysis showed that prenatal VPA exposure reduced the low-frequency power but increased high-frequency gamma (HG) power in the hippocampus CA1 area. Meanwhile, the coherence and synchronization between CA3 and CA1 were abnormally increased in the VPA group, especially in theta and HG rhythms. Furthermore, the cross-frequency coupling strength of theta-LG in the CA1 and CA3 → CA1 pathway was significantly attenuated, but the theta-HG coupling strength was increased. Additionally, prenatal VPA exposure inhibited the expression of SYP and NR2B but enhanced the expression of PSD-95 along with decreased synaptic plasticity. The neural oscillatory patterns in VPA-induced offspring were disturbed with the intensity and direction of neural information flow disordered, which are consistent with the changes in synaptic plasticity, suggesting that the decline in synaptic plasticity is the underlying mechanism.

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4. Cirnigliaro L, Clericò L, Russo LC, Prato A, Caruso M, Rizzo R, Barone R. Head circumference growth in children with Autism Spectrum Disorder: trend and clinical correlates in the first five years of life. Front Psychiatry;2024;15:1431693.

BACKGROUND: Macrocephaly is described in almost 15% of children with Autism Spectrum Disorder (ASD). Relationships between head growth trajectories and clinical findings in ASD children show a high degree of variability, highlighting the complex heterogeneity of the disorder. OBJECTIVES: The aim of this study was to measure differences of the early growth trajectory of head circumference (HC) in children with ASD and macrocephaly compared to ASD normocephalic children, examining clinical correlates in the two groups of patients. METHODS: HC data were collected from birth to 5 years of age in a sample of children with a confirmed diagnosis of ASD. Participants were classified into two groups: ASD macrocephaly (ASD-M, Z-scores ≥1.88 in at least two consecutive HC measurements), and ASD non-macrocephaly (ASD-N). Based on the distribution of HC measurements (Z-scores), five age groups were identified for the longitudinal study. Developmental and behavioral characteristics of the ASD-M children compared to the ASD-N group were compared by using standardized scores. RESULTS: 20,8% of the children sample met criteria for macrocephaly. HC values became indicative of macrocephaly in the ASD-M group at the age range from 1 to 6 months, and persisted thereafter throughout the first five years of age. ASD-M children showed significantly higher developmental quotients of Griffiths III B and D subscales compared to ASD-N group. No significant differences in the severity of ASD symptoms assessed by ADOS-2 were observed between ASD-M and ASD-N groups. CONCLUSION: In this study HC size from birth to 5 years links to accelerated HC growth rate as early as the first 6 months of age in children with ASD and macrocephaly, preceding the onset and diagnosis of ASD. We found that in early childhood, children with ASD-M may exhibit some advantages in language and social communication and emotional skills without differences in autism severity, when compared with age-matched normocephalic ASD children. Longitudinal analyses are required to catch-up prospectively possible relationships between head size as proxy measure of brain development and neuro-developmental and behavioral features in children with ASD.

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5. Cooper D, Frisbie S, Wang S, Ventimiglia J, Gibbs V, Love AMA, Mogavero M, Benevides TW, Hyatt JM, Hooven K, Basketbill I, Shea L. What do we know about autism and policing globally? Preliminary findings from an international effort to examine autism and the criminal justice system. Autism Res;2024 (Aug 5)

Research has demonstrated that autistic individuals have higher rates of police contact, however, research has seldom explored the fundamental reasons for these interactions and how this might vary across international contexts. To remedy this, the Global Autism and Criminal Justice Consortium created and disseminated the Global Criminal Justice Survey. Descriptive statistics of survey respondents with and without police contact were compared to glean differential characteristics. Frequency and type of recent police interactions (within the last 5 years) among autistic individuals were also examined to better contextualize the reasons that autistic individuals encounter police. Study findings indicated that across a global sample (i.e., North America, Scandinavia, Europe, and Oceania) nearly half of all autistic individuals had an interaction with police and that those with a history of police contact were usually older, had higher educational qualifications, and were more likely to have a co-occurring mental health or developmental disorder. Among types of interactions, noncriminal encounters, such as welfare checks, traffic incidents, wandering, and behaviors associated with autism, were most common, followed by autistic individuals alleging a crime was committed against them. These findings offer important directions for future research and for targeted policy responses that can address the unique needs of autistic individuals within the justice system.

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6. Ghasemi MR, Sadeghi H, Hashemi-Gorji F, Mirfakhraie R, Gupta V, Ben-Mahmoud A, Bagheri S, Razjouyan K, Salehpour S, Tonekaboni SH, Dianatpour M, Omrani D, Jang MH, Layman LC, Miryounesi M, Kim HG. Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism. BMC Med Genomics;2024 (Aug 5);17(1):196.

BACKGROUND AND OBJECTIVE: Autosomal recessive genetic disorders pose significant health challenges in regions where consanguineous marriages are prevalent. The utilization of exome sequencing as a frequently employed methodology has enabled a clear delineation of diagnostic efficacy and mode of inheritance within multiplex consanguineous families. However, these aspects remain less elucidated within simplex families. METHODS: In this study involving 12 unrelated simplex Iranian families presenting syndromic autism, we conducted singleton exome sequencing. The identified genetic variants were validated using Sanger sequencing, and for the missense variants in FOXG1 and DMD, 3D protein structure modeling was carried out to substantiate their pathogenicity. To examine the expression patterns of the candidate genes in the fetal brain, adult brain, and muscle, RT-qPCR was employed. RESULTS: In four families, we detected an autosomal dominant gene (FOXG1), an autosomal recessive gene (CHKB), and two X-linked autism genes (IQSEC2 and DMD), indicating diverse inheritance patterns. In the remaining eight families, we were unable to identify any disease-associated genes. As a result, our variant detection rate stood at 33.3% (4/12), surpassing rates reported in similar studies of smaller cohorts. Among the four newly identified coding variants, three are de novo (heterozygous variant p.Trp546Ter in IQSEC2, heterozygous variant p.Ala188Glu in FOXG1, and hemizygous variant p.Leu211Met in DMD), while the homozygous variant p.Glu128Ter in CHKB was inherited from both healthy heterozygous parents. 3D protein structure modeling was carried out for the missense variants in FOXG1 and DMD, which predicted steric hindrance and spatial inhibition, respectively, supporting the pathogenicity of these human mutants. Additionally, the nonsense variant in CHKB is anticipated to influence its dimerization – crucial for choline kinase function – and the nonsense variant in IQSEC2 is predicted to eliminate three functional domains. Consequently, these distinct variants found in four unrelated individuals with autism are likely indicative of loss-of-function mutations. CONCLUSIONS: In our two syndromic autism families, we discovered variants in two muscular dystrophy genes, DMD and CHKB. Given that DMD and CHKB are recognized for their participation in the non-cognitive manifestations of muscular dystrophy, it indicates that some genes transcend the boundary of apparently unrelated clinical categories, thereby establishing a novel connection between ASD and muscular dystrophy. Our findings also shed light on the complex inheritance patterns observed in Iranian consanguineous simplex families and emphasize the connection between autism spectrum disorder and muscular dystrophy. This underscores a likely genetic convergence between neurodevelopmental and neuromuscular disorders.

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7. Luo Y, Wang L, Cao Y, Shen Y, Gu Y, Wang L. Reduced excitatory activity in the developing mPFC mediates a PV(H)-to-PV(L) transition and impaired social cognition in autism spectrum disorders. Transl Psychiatry;2024 (Aug 6);14(1):325.

Understanding the neuropathogenesis of impaired social cognition in autism spectrum disorders (ASD) is challenging. Altered cortical parvalbumin-positive (PV(+)) interneurons have been consistently observed in ASD, but their roles and the underlying mechanisms remain poorly understood. In our study, we observed a downward-shifted spectrum of PV expression in the developing medial prefrontal cortex (mPFC) of ASD mouse models due to decreased activity of PV(+) neurons. Surprisingly, chemogenetically suppressing PV(+) neuron activity during postnatal development failed to induce ASD-like behaviors. In contrast, lowering excitatory activity in the developing mPFC not only dampened the activity state and PV expression of individual PV(+) neurons, but also replicated ASD-like social deficits. Furthermore, enhancing excitation, but not PV(+) interneuron-mediated inhibition, rescued social deficits in ASD mouse models. Collectively, our findings propose that reduced excitatory activity in the developing mPFC may serve as a shared local circuitry mechanism triggering alterations in PV(+) interneurons and mediating impaired social functions in ASD.

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8. Maletz SN, Reid BT, Baekey DM, Whitaker-Fornek JR, Bateman JT, Arakawa K, Bissonnette JM, Levitt ES. Effect of positive allosteric modulation and orthosteric agonism of dopamine D2-like receptors on respiration in mouse models of Rett syndrome. Respir Physiol Neurobiol;2024 (Oct);328:104314.

Rett syndrome (RTT) is an autism spectrum disorder caused by loss-of-function mutations in the methyl-CPG-binding protein 2 (Mecp2) gene. Frequent apneas and irregular breathing are prevalent in RTT, and also occur in rodent models of the disorder, including Mecp2(Bird) and Mecp2(R168X) mice. Sarizotan, a serotonin 5-HT1a and dopamine D2-like receptor agonist, reduces the incidence of apneas and irregular breathing in mouse models of RTT (Abdala et al., 2014). Targeting the 5HT1a receptor alone also improves respiration in RTT mice (Levitt et al., 2013). However, the contribution of D2-like receptors in correcting these respiratory disturbances remains untested. PAOPA, a dopamine D2-like receptor positive allosteric modulator, and quinpirole, a dopamine D2-like receptor orthosteric agonist, were used in conjunction with whole-body plethysmography to evaluate whether activation of D2-like receptors is sufficient to improve breathing disturbances in female heterozygous Mecp2(Bird/+) and Mecp2(R168X/+) mice. PAOPA did not significantly change apnea incidence or irregularity score in RTT mice. PAOPA also had no effect on the ventilatory response to hypercapnia (7 % CO(2)). In contrast, quinpirole reduced apnea incidence and irregularity scores and improved the hypercapnic ventilatory response in Mecp2(R168X/+) and Mecp2(Bird/+) mice, while also reducing respiratory rate. These results suggest that D2-like receptors could contribute to the positive effects of sarizotan in the correction of respiratory abnormalities in Rett syndrome. However, positive allosteric modulation of D2-like receptors alone was not sufficient to evoke these effects.

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9. Mastrogiannis AM, Steinway C, Santos TC, Chen J, Berens J, Davis T, Cornacchia M, Woodward J, Riddle I, Spicer B, Wright C, Lindquist LA, Jan S. Medicaid long-term services and supports and caregiving needs of caregivers of individuals with intellectual and developmental disabilities. J Appl Res Intellect Disabil;2024 (Sep);37(5):e13289.

BACKGROUND: Long-term care services are funded primarily by Medicaid long-term services and support in the United States, where eligibility is based on care needs of the individual with intellectual and developmental disability alone. Impact of Medicaid waiver services on self-reported caregiver needs is not well understood. METHOD: Caregivers (n = 405) of individuals with intellectual and developmental disabilities across four states (NY, OH, TX, and PA) completed an online survey. RESULTS: Caregivers reported a moderate degree of burden and susceptibility of stress-induced health breakdown. Despite controlling for the activities of daily living of the care recipient, caregivers of individuals with Medicaid Waiver services reported greater difficulty managing medications (p = .013) and finding paid help (p < .001) than caregivers of individuals without services.

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10. Medeiros D, Polepalli L, Li W, Pozzo-Miller L. Altered activity of mPFC pyramidal neurons and parvalbumin-expressing interneurons during social interactions in a Mecp2 mouse model for Rett syndrome. bioRxiv;2024 (Aug 6)

Social memory impairments in Mecp2 knockout (KO) mice result from altered neuronal activity in the monosynaptic projection from the ventral hippocampus (vHIP) to the medial prefrontal cortex (mPFC). The hippocampal network is hyperactive in this model for Rett syndrome, and such atypically heightened neuronal activity propagates to the mPFC through this monosynaptic projection, resulting in altered mPFC network activity and social memory deficits. However, the underlying mechanism of cellular dysfunction within this projection between vHIP pyramidal neurons (PYR) and mPFC PYRs and parvalbumin interneurons (PV-IN) resulting in social memory impairments in Mecp2 KO mice has yet to be elucidated. We confirmed social memory (but not sociability) deficits in Mecp2 KO mice using a new 4-chamber social memory arena, designed to minimize the impact of the tethering to optical fibers required for simultaneous in vivo fiber photometry of Ca(2+)-sensor signals during social interactions. mPFC PYRs of wildtype (WT) mice showed increases in Ca(2+) signal amplitude during explorations of a novel toy mouse and interactions with both familiar and novel mice, while PYRs of Mecp2 KO mice showed smaller Ca(2+) signals during interactions only with live mice. On the other hand, mPFC PV-INs of Mecp2 KO mice showed larger Ca(2+) signals during interactions with a familiar cage-mate compared to those signals in PYRs, a difference absent in the WT mice. These observations suggest atypically heightened inhibition and impaired excitation in the mPFC network of Mecp2 KO mice during social interactions, potentially driving their deficit in social memory.

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11. Meuffels SA, Kuijpers-Jagtman AM, Tjoa STH, Carvajal Monroy PL. Orthodontic aligner therapy outcomes in children with autism spectrum disorder. Int J Paediatr Dent;2024 (Aug 6)

BACKGROUND: Children with autism spectrum disorder (ASD) face unique challenges in oral care. Aligner therapy offers a promising alternative to conventional approaches for this patient group. AIM: To evaluate orthodontic aligner therapy outcomes in children with ASD using the Peer Assessment Rating (PAR) Index and the Index of Complexity, Outcome, and Need (ICON), and to investigate whether concomitant disorders affect ICON, PAR scores, and treatment duration. DESIGN: Two calibrated observers assessed digital dental casts and intraoral pictures of 37 children with ASD before (T0) and after (T1) their treatment. At T0, the participants’ average age was 12.9 years (SD = 1.68); at T1, post-therapy, the average age was 14.9 years (SD = 1.51). All participants underwent orthodontic aligner therapy. Statistical methods employed in this study included descriptive analysis, Wilcoxon tests, and univariate linear regression. RESULTS: Posttreatment, median ICON scores decreased significantly from 74 to 14, and median PAR scores from 36 to 8 (p < .0001), demonstrating "excellent to substantial" improvement in 89.2% (n = 33) of the children. Comorbidities, present in 62% of patients, did not significantly affect treatment duration (22.6 ± 11.02 months). CONCLUSION: Children with ASD significantly benefit from orthodontic aligner therapy, emphasizing the need for tailored orthodontic care.

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12. Nakamura T, Koyama S, Nagayama H, Sasada S. Participation Questionnaire for Preschoolers With Autism Spectrum Disorder: Item Development. Occup Ther Int;2024;2024:4573526.

Occupational therapists need to comprehensively assess the participation of children with autism spectrum disorder (ASD) in daily activities and evaluate the effectiveness of relevant interventions. Several participation measurement tools have been developed for children with ASD, but these tools require expert involvement, which is a barrier to large-scale surveys. To address these concerns, a caregiver-administered questionnaire-the Participation Questionnaire for Preschoolers (PQP)-was developed. However, this tool could be improved due to its narrow age range of 48-72 months and because the item development process does not reflect the perspectives of children and caregivers. Therefore, we expanded the PQP’s target age range to 36-83 months and developed new items that reflect the perspectives of professionals and caregivers. Interviews were conducted with eight experts in supporting children with ASD and 11 caregivers of children with ASD. The interviews were transcribed, and a content analysis was performed. The number of questions was reduced from 51 to 36, and the order of items was changed for clarity. Two of the eight subdomains were removed to clarify the conceptual difference between activity and participation. The updated version of the PQP has two unique features: (1) it can be administered without expert involvement, and (2) it includes items specific to the challenges faced by children with ASD. Future development of the scale and validation of its measurement properties are needed.

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13. Rani R, Sri NS, Medishetti R, Chatti K, Sevilimedu A. Loss of FMRP affects ovarian development and behaviour through multiple pathways in a zebrafish model of fragile X syndrome. Hum Mol Genet;2024 (Aug 6);33(16):1391-1405.

Fragile X syndrome (FXS) is an inherited neurodevelopmental disorder and the leading genetic cause of autism spectrum disorders. FXS is caused by loss of function mutations in Fragile X mental retardation protein (FMRP), an RNA binding protein that is known to regulate translation of its target mRNAs, predominantly in the brain and gonads. The molecular mechanisms connecting FMRP function to neurodevelopmental phenotypes are well understood. However, neither the full extent of reproductive phenotypes, nor the underlying molecular mechanisms have been as yet determined. Here, we developed new fmr1 knockout zebrafish lines and show that they mimic key aspects of FXS neuronal phenotypes across both larval and adult stages. Results from the fmr1 knockout females also showed that altered gene expression in the brain, via the neuroendocrine pathway contribute to distinct abnormal phenotypes during ovarian development and oocyte maturation. We identified at least three mechanisms underpinning these defects, including altered neuroendocrine signaling in sexually mature females resulting in accelerated ovarian development, altered expression of germ cell and meiosis promoting genes at various stages during oocyte maturation, and finally a strong mitochondrial impairment in late stage oocytes from knockout females. Our findings have implications beyond FXS in the study of reproductive function and female infertility. Dissection of the translation control pathways during ovarian development using models like the knockout lines reported here may reveal novel approaches and targets for fertility treatments.

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14. Sachdeva J, Mittal R, Mehta J, Jain R, Ranjan A. Resolving autism spectrum disorder (ASD) through brain topologies using fMRI dataset with multi-layer perceptron (MLP). Psychiatry Res Neuroimaging;2024 (Sep);343:111858.

Autism is a neurodevelopmental disorder that manifests in individuals during childhood and has enduring consequences for their social interactions and communication. The prediction of Autism Spectrum Disorder (ASD) in individuals based on the differences in brain networks and activities have been studied extensively in the recent past, however, with lower accuracies. Therefore in this research, identification at the early stage through computer-aided algorithms to differentiate between ASD and TD patients is proposed. In order to identify features, a Multi-Layer Perceptron (MLP) model is developed which utilizes logistic regression on characteristics extracted from connectivity matrices of subjects derived from fMRI images. The features that significantly contribute to the classification of individuals as having Autism Spectrum Disorder (ASD) or typically developing (TD) are identified by the logistic regression model. To enhance emphasis on essential attributes, an AND operation is integrated. This involves selecting features demonstrating statistical significance across diverse logistic regression analyses conducted on various random distributions. The iterative approach contributes to a comprehensive understanding of relevant features for accurate classification. By implementing this methodology, the estimation of feature importance became more dependable, and the potential for overfitting is moderated through the evaluation of model performance on various subsets of data. It is observed from the experimentation that the highly correlated Left Lateral Occipital Cortex and Right Lateral Occipital Cortex ROIs are only found in ASD. Also, it is noticed that the highly correlated Left Cerebellum Tonsil and Right Cerebellum Tonsil are only found in TD participants. Among the MLP classifier, a recall of 82.61 % is achieved followed by Logistic Regression with an accuracy of 72.46 %. MLP also stands out with a commendable accuracy of 83.57 % and AUC of 0.978.

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15. Schwartzman JM, Antezana L, Conner CM. The relationship between distress tolerance and behavioral activation on anxiety and depression symptomatology in autistic youth: Leveraging self and caregiver perspectives. Autism Res;2024 (Aug 6)

Anxiety and depression are prevalent among autistic adolescents and may be difficult to accurately diagnose and treat given various factors (e.g., diagnostic overshadowing, heterogeneity). Therefore, efforts to examine transdiagnostic factors (i.e., distress tolerance, behavioral activation) may afford more parsimonious means for assessment and treatment. To our knowledge, there has been little research on distress tolerance, behavioral activation, and depressive and anxiety symptoms in autistic adolescents to guide diagnostic practices and treatment planning. In the current study, we examined the interrelationships between these transdiagnostic factors and depressive and anxiety symptoms using ratings from 100 verbally fluent autistic adolescents without intellectual disability (M(age) = 13.70, SD(age) = 2.23, Range: 11:00-17:11 years) and 100 of their caregivers. Many adolescents reported male sex assigned at birth (61%), cisgender (87%), not Hispanic/Latinx (90%), and White (80%) identities. A series of correlational analyses were employed to examine associations between these constructs from youth and caregiver perspectives, and multiple linear regression analyses were conducted to explore the mediating roles of distress tolerance and behavioral activation. Preliminary results show that low distress tolerance and behavioral activation were associated with more severe internalizing symptoms per self- and caregiver-report. Some differences by rater emerged, which highlight the importance of multi-informant ratings in autism. Results from mediation analyses may show that behavioral activation may be more salient to assessments and treatment planning for depression than distress tolerance, while distress tolerance may be important for both anxiety and depression; however, findings are preliminary given the cross-sectional nature of the data. Findings suggest that these transdiagnostic concepts may be important to individualizing treatment approaches, including the timing of certain approaches, for anxiety and/or depression in autistic adolescents.

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16. Silva FAE, J PM, Mira Coelho A. Evaluation of the Behavioral Effect of Psychostimulants in Children with Autism Spectrum Disorder: A Cross-Sectional Study. Neuropediatrics;2024 (Aug 6)

BACKGROUND:  Autism spectrum disorder (ASD) is often accompanied by comorbid conditions such as attention deficit hyperactivity disorder and epilepsy. In this context, patients are often treated with psychostimulants in an attempt to control behavioral symptoms. This study aims to understand the behavioral effects of psychostimulants in children with ASD and investigate if interictal epileptiform discharges on electroencephalogram (EEG) can act as a modifying factor in this behavior. METHODS:  Sixty-eight patients with ASD who were being accompanied in the Department of Child and Adolescent Psychiatry of the Centro Hospitalar Universitário de São João and had previously done an EEG assessment answered a questionnaire regarding their behavioral response to psychostimulants. RESULTS:  In total, 47.4% of patients reported improved agitation, 56.1% enhanced concentration, and 8.8% improved sleep. Conversely, 28.1% experienced worsened agitation, 15.8% worsened concentration, and 17.5% worsened sleep. The remaining reported no alterations. The age of diagnosis correlated significantly with improved agitation, with a higher diagnosis age being associated with a higher probability of improvement. Extended-release methylphenidate and genetic variations were significantly associated with worsening of agitation. Regarding speech, 86% exhibited no changes, while 14% showed alterations, mostly, 87.5%, characterized as negative. For other behavioral alterations, 45.6% reported negative changes, 3.5% reported positive changes, and 50.9% reported no additional alterations. Female gender was significantly associated with other negative behavioral changes. A significant correlation was found between treatment duration and the probability of improvement in agitation, concentration, and other behavioral changes.

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17. Wallisch A, Little LM, Dunn W, Tomchek S. Short report: Do parents use asynchronous materials in a hybrid coaching via telehealth intervention?. Autism;2024 (Aug);28(8):2140-2145.

Using telehealth to provide services to families and children with autism has grown since the start of the COVID-19 pandemic. Yet, we still know less about telehealth models that use both virtual sessions and online materials to support families. Research suggests it is important to make sure an intervention matches the characteristics of a child with autism, but fewer studies have examined the importance of matching an intervention to parent characteristics. In this study, we looked at parent characteristics (25 parents included in the study) before a parent coaching telehealth intervention for potty training in autism. We specifically looked at how parent competence (i.e. how confident and effective one feels with parenting) levels before the intervention influenced the usage of online education materials (i.e. podcasts/tip sheets). Results suggested that parents with lower competence used the online materials more often than parents with higher competence, and often made greater gains in parent competence during the intervention. Both parents with lower and higher competence found the intervention acceptable. Future research should study additional parent characteristics in a larger sample to better understand how to tailor interventions to meet both parent and child needs.

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18. Wang HC, Feldman DE. Degraded tactile coding in the Cntnap2 mouse model of autism. Cell Rep;2024 (Aug 27);43(8):114612.

Atypical sensory processing is common in autism, but how neural coding is disrupted in sensory cortex is unclear. We evaluate whisker touch coding in L2/3 of somatosensory cortex (S1) in Cntnap2(-/-) mice, which have reduced inhibition. This classically predicts excess pyramidal cell spiking, but this remains controversial, and other deficits may dominate. We find that c-fos expression is elevated in S1 of Cntnap2(-/-) mice under spontaneous activity conditions but is comparable to that of control mice after whisker stimulation, suggesting normal sensory-evoked spike rates. GCaMP8m imaging from L2/3 pyramidal cells shows no excess whisker responsiveness, but it does show multiple signs of degraded somatotopic coding. This includes broadened whisker-tuning curves, a blurred whisker map, and blunted whisker point representations. These disruptions are greater in noisy than in sparse sensory conditions. Tuning instability across days is also substantially elevated in Cntnap2(-/-). Thus, Cntnap2(-/-) mice show no excess sensory-evoked activity, but a degraded and unstable tactile code in S1.

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19. Wilpert NM, Thamm R, Thamm M, Kratzsch J, Seelow D, Vogel M, Krude H, Schuelke M. Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay. Int J Mol Sci;2024 (Aug 6);25(16)

Primary congenital hypothyroidism is easily diagnosed on the basis of elevated plasma levels of thyroid-stimulating hormone (TSH). In contrast, in the rare disorders of thyroid hormone resistance, TSH and, in mild cases, also thyroid hormone levels are within the normal range. Thyroid hormone resistance is caused by defects in hormone metabolism, transport, or receptor activation and can have the same serious consequences for child development as congenital hypothyroidism. A total of n = 23,522 data points from a large cohort of children and young adults were used to generate normal values and sex-specific percentiles for the ratio of free triiodothyronine (T3) to free thyroxine (T4), the fT3/fT4 ratio. The aim was to determine whether individuals with developmental delay and genetically confirmed thyroid hormone resistance, carrying defects in Monocarboxylate Transporter 8 (MCT8), Thyroid Hormone Receptor alpha (THRα), and Selenocysteine Insertion Sequence-Binding Protein 2 (SECISBP2), had abnormal fT3/fT4 ratios. Indeed, we were able to demonstrate a clear separation of patient values for the fT3/fT4 ratio from normal and pathological controls (e.g., children with severe cerebral palsy). We therefore recommend using the fT3/fT4 ratio as a readily available screening parameter in children with developmental delay for the identification of thyroid hormone resistance syndromes. The fT3/fT4 ratio can be easily plotted on centile charts using our free online tool, which accepts various SI and non-SI units for fT3, fT4, and TSH.

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20. Xu SC, Zhong Y, Jiang HY, Tang J. Exposure to anti-seizure medication during pregnancy and the risk of autism and ADHD in offspring: a systematic review and meta-analysis. Front Neurol;2024;15:1440145.

BACKGROUND: Evidence of an association between maternal use of anti-seizure medication (ASM) during pregnancy and the risk of autism spectrum disorder (ASD) or attention-deficit/hyperactivity disorder (ADHD) in children is conflicting. This systematic review and meta-analysis aimed to summarize the relationship between fetal exposure to ASM and the development of ASD or ADHD in offspring. METHODS: A comprehensive literature search was conducted in PubMed and other databases to identify relevant epidemiological studies published from inception until 1 March 2024. RESULTS: Seven cohort studies were included in the meta-analysis. The results showed that maternal exposure to ASMs during pregnancy was associated with an increased risk of ASD [odds ratio (OR): 2.1, 95% confidence interval (CI): 1.63-2.71; p < 0.001] in the general population. This association became weaker (ASD: OR: 1.38, 95% CI: 1.11-1.73; p = 0.004) when the reference group was mothers with a psychiatric disorder or epilepsy not treated during pregnancy. Furthermore, an increased risk of ADHD was observed when the study data adjusted for drug indications were pooled (OR: 1.43, 95% CI: 1.07-1.92; p = 0.015). In subgroup analyses based on individual ASM use, only exposure to valproate preconception was significantly associated with an increased risk of ASD or ADHD. CONCLUSION: The significant association between maternal ASM use during pregnancy and ASD or ADHD in offspring may be partially explained by the drug indication or driven by valproate.

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21. Yang Y, Tang D, Wang Z, Liu Y, Chen F, Jie B, Ni T, Xu C, Li J, Wang C. Identification of high-functioning autism spectrum disorders based on gray-white matter functional network connectivity. J Psychiatr Res;2024 (Aug 6);178:107-113.

In the field of autism spectrum disorder (ASD), research on functional connectivity between gray matter and white matter remains under-researched. To address this gap, this study innovatively introduced a nested cross-validation method that integrates gray-white matter functional connectivity with an F-Score algorithm. This method calculates the correlation based on signals extracted from functional magnetic resonance imaging data using gray matter and white matter brain region templates. After applying the method to a New York University Langone Medical Center dataset consisting of 55 individuals with high-functioning ASD and 52 healthy subjects, we achieved a classification accuracy of 72.94%. This study found abnormal functional connectivity, primarily involving the left anterior prefrontal cortex and right superior corona radiata, left retrosplenial cortex and left superior corona radiata, as well as the left ventral anterior cingulate cortex and body of corpus callosum. Besides, we discovered that these abnormal connections are closely related to social impairment and restrictive and repetitive behaviors in ASD. In conclusion, this study provides a gray-white matter functional connectivity perspective for the diagnosis and understanding of ASD.

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