1. Alhuzimi TE. Saudi parents’ perspectives of the factors influencing the quality of life of their children with autism spectrum disorder. Res Dev Disabil;2024 (Jul 12);152:104799.

BACKGROUND: Research indicates that the deficits in social communication and the repetitive, restrictive behaviour of persons with Autistic Spectrum Disorder (ASD) can pose challenges to their functioning in different Quality of Life (QoL) domains, leading to lower levels of life satisfaction. Evidence also indicates that various social and family factors, such as the support received in the community/environment and the composition of the family, could impact the QoL of persons with ASD. AIM: To study the factors influencing the QoL of children with ASD in the Kingdom of Saudi Arabia (KSA) by investigating the perspectives of their parents. METHOD: Questionnaires were completed by 110 parents who had a child with ASD. The questionnaire included the 96-item KidsLife-ASD scale to capture parents’ perspectives regarding the difficulties experienced by their child, the ASD support received by their families, and the QoL of the child. The data obtained from the questionnaire were statistically analysed using IBM SPSS software. RESULTS: The difficulties experienced by children with ASD and aspects of the support (services and interventions, and challenges) they receive are factors that influence the QoL of children with ASD in the KSA. Moreover, the number of children in the family, the birth order of child with ASD, and the severity of ASD symptoms are factors that influence parents’ perceptions of their children’s difficulties, family ASD support, and the child’s QoL. CONCLUSIONS: Saudi parents who have one child with ASD believed that the QoL of their child was high and confirmed that the difficulties experienced by the child and the support received by the family were factors which influenced the QoL of a child with ASD.

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2. Biswal SR, Kumar A, Muthuswamy S, Kumar S. Genetic components of microdeletion syndromes and their role in determining schizophrenia traits. Mol Biol Rep;2024 (Jul 13);51(1):804.

Schizophrenia is a neuropsychiatric disorder characterized by various symptoms such as hallucinations, delusions, and disordered thinking. The etiology of this disease is unknown; however, it has been linked to many microdeletion syndromes that are likely to contribute to the pathology of schizophrenia. In this review we have comprehensively analyzed the role of various microdeletion syndromes, like 3q29, 15q13.3, and 22q11.2, which are known to be involved with schizophrenia. A variety of factors lead to schizophrenia phenotypes, but copy number variants that disrupt gene regulation and impair brain function and cognition are one of the causes that have been identified. Multiple case studies have shown that loss of one or more genes in the microdeletion regions lead to brain activity defects. In this article, we present a coherent paradigm that connects copy number variations (CNVs) to numerous neurological and behavioral abnormalities associated with schizophrenia. It would be helpful in understanding the different aspects of the microdeletions and how they contribute in the pathophysiology of schizophrenia.

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3. Carrazana R, Espinoza F, Ávila A. Mechanistic perspective on the actions of vitamin a in autism spectrum disorder etiology. Neuroscience;2024 (Jul 14);554:72-82.

Vitamin A (VA) has many functions in the body, some of which are key for the development and functioning of the nervous system, while some others might indirectly influence neural function. Both hypovitaminosis and hypervitaminosis A can lead to clinical manifestations of concern for individuals and for general global health. Scientific evidence on the link between VA and autism spectrum disorder (ASD) is growing, with some clinical studies and accumulating results obtained from basic research using cellular and animal models. Remarkably, it has been shown that VA deficiency can exacerbate autistic symptomatology. In turn, VA supplementation has been shown to be able to improve autistic symptomatology in selected groups of individuals with ASD. However, it is important to recognize that ASD is a highly heterogeneous condition. Therefore, it is important to clarify how and when VA supplementation can be of benefit for affected individuals. Here we delve into the relationship between VA and ASD, discussing clinical observations and mechanistic insights obtained from research on selected autistic syndromes and laboratory models to advance in defining how the VA signaling pathway can be exploited for treatment of ASD.

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4. Corbera S, Wexler BE, Bell MD, Pittman B, Pelphrey K, Pearlson G, Assaf M. Disentangling negative and positive symptoms in schizophrenia and autism spectrum disorder. Schizophr Res;2024 (Jul 12);271:1-8.

Autism spectrum disorder (ASD) and schizophrenia (SZ) share traits, especially in social skills and negative symptoms, and to a lesser degree positive symptoms. Differential diagnosis can be challenging and discerning expressive and experiential negative symptoms may provide knowledge with potential diagnostic and functional relevance that can guide treatment. Two exploratory factor analyses (EFA) were conducted to reveal the underlying dimensions of negative and positive symptoms using the Positive and Negative Syndrome Scale (PANSS), the Scale for the Assessment of Positive Symptoms & Negative Symptoms (SAPS/SANS) and the Autism Diagnostic Observation Schedule-Generic (ADOS-G). Three factors emerged from the negative symptom EFA (70.5 % variance): NF1) Expressive Negative; NF2) Experiential Negative; and NF3) Preoccupation, Absorption & Expressive Affective Flattening. Three positive factors emerged (68.6 % variance): PF1) Hallucinations-Delusions; PF2) Grandiosity; and PF3) Thought Disorder-ADOS positive Symptoms. SZ showed higher PF1 scores, and ASD had higher PF3 scores. No differences between groups were observed in the negative factors. Across groups, all negative factors were inversely associated with quality of life. Only NF1 and NF2 and PF1 were detrimentally related to social functioning. A discriminant function analysis using all factors classified correctly 84.4 % of participants, with PF1, NF1 followed by NF2 being the best predictors of diagnosis. Expressive negative followed by Experiential negative symptoms are of diagnostic value independent of and beyond SZ-related positive symptoms and are related with detrimental functioning. Findings confirm the need to distinctively target negative symptoms, and specific SZ-related and ASD-related positive symptoms, and especially the use of several assessment tools for diagnostic classification.

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5. Erdogan MA, Nesil P, Altuntas I, Sirin C, Uyanikgil Y, Erbas O. Amelioration of propionic acid-induced autism spectrum disorder in rats through dapagliflozin: The role of IGF-1/IGFBP-3 and the Nrf2 antioxidant pathway. Neuroscience;2024 (Jul 14);554:16-25.

The biological effects of dapagliflozin, a sodium-glucose cotransporter-2 (SGLT2) inhibitor, reveal its antioxidant and anti-inflammatory properties, suggesting therapeutic benefits beyond glycemic control. This study explores the neuroprotective effects of dapagliflozin in a rat model of autism spectrum disorder (ASD) induced by propionic acid (PPA), characterized by social interaction deficits, communication challenges, repetitive behaviors, cognitive impairments, and oxidative stress. Our research aims to find effective treatments for ASD, a condition with limited therapeutic options and significant impacts on individuals and families. PPA induces ASD-like symptoms in rodents, mimicking biochemical and behavioral features of human ASD. This study explores dapagliflozin’s potential to mitigate these symptoms, providing insights into novel therapeutic avenues. The findings demonstrate that dapagliflozin enhances the activation of the nuclear factor erythroid 2-related factor 2 (Nrf2) antioxidant pathway and increases levels of neurotrophic and growth factors such as brain-derived neurotrophic factor (BDNF), insulin-like growth factor-1 (IGF-1), and insulin-like growth factor-binding protein-3 (IGFBP-3). Additionally, dapagliflozin reduces pro-inflammatory cytokines, including tumor necrosis factor-alpha (TNF-α) and interleukin-17 (IL-17), and decreases the oxidative stress marker malondialdehyde (MDA). Dapagliflozin’s antioxidant properties support cognitive functions by modulating apoptotic mechanisms and enhancing antioxidant capacity. These combined effects contribute to reducing learning and memory impairments in PPA-induced ASD, highlighting dapagliflozin’s potential as an adjunctive therapy for oxidative stress and inflammation-related cognitive decline in ASD. This study underscores the importance of exploring new therapeutic strategies targeting molecular pathways involved in the pathophysiology of ASD, potentially improving the quality of life for individuals affected by this disorder.

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6. Hou W, Jiang Y, Yang Y, Zhu L, Li J. Evaluating the validity of eye-tracking tasks and stimuli in detecting high-risk infants later diagnosed with autism: A meta-analysis. Clin Psychol Rev;2024 (Jul 14);112:102466.

Gaze abnormalities are well documented in infants at elevated risk for autism spectrum disorder (ASD). However, variations in experimental design and stimuli across studies have led to mixed results. The current meta-analysis aimed to identify which type of eye tracking task and stimulus are most effective at differentiating high-risk infants (siblings of children with ASD) who later meet diagnosis criteria from low-risk infants without familial autism. We synthesized 35 studies that used eye tracking to investigate gaze behavior in infants at high genetic risk for autism before 2 years of age. We found that stimulus features, regions of interest (ROIs) and study quality moderated effect sizes across studies. Overall, dynamic stimuli and socially-relevant regions in the social stimuli (i.e. the target and activity of characters’ shared focus) reliably detected high-risk infants who later develop ASD. Attention disengagement task and stimuli depicting interactions between human and nonhuman characters could identify high-risk infants who later develop ASD and those who have autism-related symptoms but do not meet the diagnostic criteria as well. These findings provide sensitive and reliable early markers of ASD, which is helpful to develop objective and quantitative early autism screening and intervention tools.

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7. Kim SY, Lecavalier L. Stability and Validity of Self-Reported Depression and Anxiety in Autistic Youth. J Autism Dev Disord;2024 (Jul 13)

The aim of this study was to assess test-retest reliability and diagnostic validity of self-report instruments of depression and anxiety in autistic youth. Participants were 55 autistic youth aged 8-17 years presenting with depressive or anxiety symptoms. They were interviewed with the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS-PL) and completed the Children’s Depression Inventory, Second Edition – Self Report Short (CDI 2:SR[S]) and the Revised Child Anxiety and Depression Scale (RCADS) twice, separated by a two-week interval. Test-retest reliability was measured with intraclass correlation coefficients (ICCs), and diagnostic validity was assessed using receiver operating characteristic (ROC) curves with the summary ratings on the K-SADS-PL as the criterion. The effect of participant characteristics was analyzed through a moderation analysis. Generalized anxiety (GAD) and social anxiety disorder (SOC) were the two most prevalent disorders in the sample. Test-retest reliability for most of the subscales was good (ICC = 0.74 - 0.87), with the exception of the RCADS obsessive-compulsive disorder (OCD) and GAD. The Adaptive Behavior conceptual score was a significant moderator of the reliability of the CDI 2:SR[S]. The ROC analysis suggested the RCADS SOC and the CDI 2:SR[S] to be good screening tools with inadequate specificity when appropriately sensitive cutoff scores are used. Optimal cutoff scores in this sample were lower than originally published. The findings suggest that autistic youth can provide stable reports of anxiety and depressive symptoms over time. Diagnostic validity varied according to the construct and instrument.

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8. Li M, Izumoto M, Wang Y, Kato Y, Iwatani Y, Hirata I, Mizuno Y, Tachibana M, Mohri I, Kagitani-Shimono K. Altered white matter connectivity of ventral language networks in autism spectrum disorder: An automated fiber quantification analysis with multi-site datasets. Neuroimage;2024 (Jul 13);297:120731.

Comprehension and pragmatic deficits are prevalent in autism spectrum disorder (ASD) and are potentially linked to altered connectivity in the ventral language networks. However, previous magnetic resonance imaging studies have not sufficiently explored the microstructural abnormalities in the ventral fiber tracts underlying comprehension dysfunction in ASD. Additionally, the precise locations of white matter (WM) changes in the long tracts of patients with ASD remain poorly understood. In the current study, we applied the automated fiber-tract quantification (AFQ) method to investigate the fine-grained WM properties of the ventral language pathway and their relationships with comprehension and symptom manifestation in ASD. The analysis included diffusion/T1 weighted imaging data of 83 individuals with ASD and 83 age-matched typically developing (TD) controls. Case-control comparisons were performed on the diffusion metrics of the ventral tracts at both the global and point-wise levels. We also explored correlations between diffusion metrics, comprehension performance, and ASD traits, and conducted subgroup analyses based on age range to examine developmental moderating effects. Individuals with ASD exhibited remarkable hypoconnectivity in the ventral tracts, particularly in the temporal portions of the left inferior longitudinal fasciculus (ILF) and the inferior fronto-occipital fasciculus (IFOF). These WM abnormalities were associated with poor comprehension and more severe ASD symptoms. Furthermore, WM alterations in the ventral tract and their correlation with comprehension dysfunction were more prominent in younger children with ASD than in adolescents. These findings indicate that WM disruptions in the temporal portions of the left ILF/IFOF are most notable in ASD, potentially constituting the core neurological underpinnings of comprehension and communication deficits in autism. Moreover, impaired WM connectivity and comprehension ability in patients with ASD appear to improve with age.

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9. Martins PLB, Torquato GCP, Dias G, Leite IB, Gaspar TM, Pinto JP, Macedo DS. Effectiveness of pharmacological interventions for managing ADHD symptoms in individuals with autism spectrum disorder: A systematic review and meta-analysis. Prog Neuropsychopharmacol Biol Psychiatry;2024 (Jul 14);134:111089.

OBJECTIVES: This systematic review sought to provide evidence for the effectiveness of common pharmacological interventions used for treating attention deficit hyperactivity disorder (ADHD) symptoms in the autism spectrum disorder (ASD) population, considering studies attempting to find safe and effective drugs. METHODS: We searched for randomized controlled trials describing the effectiveness and/or safety profile of pharmacological interventions for treating ASD and ADHD or ASD with ADHD symptoms using three bibliographic databases: PubMed, Cochrane Library, and Embase. We have chosen ADHD symptoms measured by any clinical scale as the primary outcome. As additional outcomes, we have used other symptoms of aberrant behavior measured by the aberrant behavior checklist, satisfaction with treatment, and peer satisfaction. RESULTS: Twenty-two publications met the inclusion criteria for the systematic review and eight for the meta-analysis. In our investigation, we found a few articles using clonidine, modafinil, and bupropion as interventions when compared to methylphenidate (MPH). Our meta-analysis showed that MPH had positive changes compared to placebo in symptoms such as hyperactivity, irritability, or inattention. However, no effect was found in stereotyped symptoms, and our data’s quantitative analysis revealed a large effect of MPH-induced adverse effects on the dropout rate. On the other hand, atomoxetine initiation had positive effects when compared to placebo on symptoms of hyperactivity and inattention. We have found no effect of atomoxetine on stereotypes or irritability. Furthermore, atomoxetine did not influence side effects that caused dropouts from studies. CONCLUSION: Our results indicated that atomoxetine has a modest effect on hyperactivity and inattention symptoms, with a relatively benign profile of side effects. MPH appears to be effective in handling hyperactivity, inattention, and irritability symptoms. However, our results on atomoxetine revealed increased dropouts due to adverse effects when compared to MPH or placebo. Evidence for other substances such as guanfacine, clonidine, bupropion, or modafinil is either preliminary or nonexistent.

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10. Peri F, Cherchi C, Chiarini Testa MB, Pavone M, Verrillo E, Cutrera R. The Efficacy of Noninvasive Ventilation in Patients Affected by Rett Syndrome With Hypoventilation. Pediatr Neurol;2024 (May 9);158:81-85.

BACKGROUND: Rett syndrome is a progressive neurological disorder associated to several comorbidities that contribute significantly to impair lung function. Respiratory morbidity represents a major cause of death in this population. Little is known about the benefit of noninvasive ventilation. METHODS: We retrospectively enrolled patients with Rett syndrome who underwent a pneumological evaluation combined with a cardiorespiratory polygraphy and/or a pulse oximetry and capnography from 2012 to 2022. RESULTS: Medical records of 11 patients with Rett syndrome, mean age 13 ± 6 years, were evaluated. Most patients presented with both epilepsy and scoliosis. Five patients showed a pathologic sleep study and/or impaired night gas exchange: mean obstructive apnea-hypopnea index was 4 ± 3 events/hour; mean and minimal SpO(2) were, respectively, 93% ± 2% and 83% ± 6%, while mean and maximal transcutaneous carbon dioxide monitoring (PtcCO(2)) were, respectively, 51 ± 5 mm Hg and 55 ± 8 mm Hg; and mean oxygen desaturation index was 13 ± 11 events/hour. These patients started noninvasive ventilation with clinical benefit and improved gas exchange mostly in terms of PtcCO(2) (mean PtcCO(2) 51 ± 5 mm Hg before and 46 ± 6 mm Hg after noninvasive ventilation). CONCLUSIONS: Noninvasive ventilation is a suitable option for patients with Rett syndrome.

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