1. Akol I, Izzo A, Gather F, Strack S, Heidrich S, D Óh, Villarreal A, Hacker C, Rauleac T, Bella C, Fischer A, Manke T, Vogel T. Multimodal epigenetic changes and altered NEUROD1 chromatin binding in the mouse hippocampus underlie FOXG1 syndrome. Proceedings of the National Academy of Sciences of the United States of America. 2023; 120(2): e2122467120.

Forkhead box G1 (FOXG1) has important functions in neuronal differentiation and balances excitatory/inhibitory network activity. Thus far, molecular processes underlying FOXG1 function are largely unexplored. Here, we present a multiomics data set exploring how FOXG1 impacts neuronal maturation at the chromatin level in the mouse hippocampus. At a genome-wide level, FOXG1 i) both represses and activates transcription, ii) binds mainly to enhancer regions, iii) reconfigures the epigenetic landscape through bidirectional alteration of H3K27ac, H3K4me3, and chromatin accessibility, and iv) operates synergistically with NEUROD1. Interestingly, we could not detect a clear hierarchy of FOXG1 and NEUROD1, but instead, provide the evidence that they act in a highly cooperative manner to control neuronal maturation. Genes affected by the chromatin alterations impact synaptogenesis and axonogenesis. Inhibition of histone deacetylases partially rescues transcriptional alterations upon FOXG1 reduction. This integrated multiomics view of changes upon FOXG1 reduction reveals an unprecedented multimodality of FOXG1 functions converging on neuronal maturation. It fuels therapeutic options based on epigenetic drugs to alleviate, at least in part, neuronal dysfunction.

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2. Beeman N, Sapre T, Ong SE, Yadav S. Neurodevelopmental disorder-associated mutations in TAOK1 reveal its function as a plasma membrane remodeling kinase. Science signaling. 2023; 16(766): eadd3269.

Mutations in TAOK1, which encodes a serine-threonine kinase, are associated with both autism spectrum disorder (ASD) and neurodevelopmental delay (NDD). Here, we investigated the molecular function of this evolutionarily conserved kinase and the mechanisms through which TAOK1 mutations may lead to neuropathology. We found that TAOK1 was abundant in neurons in the mammalian brain and remodeled the neuronal plasma membrane through direct association with phosphoinositides. Our characterization of four NDD-associated TAOK1 mutations revealed that these mutants were catalytically inactive and were aberrantly trapped in a membrane-bound state, which induced abnormal membrane protrusions. Expression of these TAOK1 mutants in cultured mouse hippocampal neurons led to abnormal growth of the dendritic arbor. The coiled-coil region carboxyl-terminal to the kinase domain was predicted to fold into a triple helix, and this region directly bound phospholipids and was required for both membrane association and induction of aberrant protrusions. Autophosphorylation of threonine-440 and threonine-443 in the triple-helical region by the kinase domain blocked the plasma membrane association of TAOK1. These findings define TAOK1 as a plasma membrane remodeling kinase and reveal the underlying mechanisms through which TAOK1 dysfunction may lead to neurodevelopmental disorders.

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3. Butera C, Kaplan J, Kilroy E, Harrison L, Jayashankar A, Loureiro F, Aziz-Zadeh L. The relationship between alexithymia, interoception, and neural functional connectivity during facial expression processing in autism spectrum disorder. Neuropsychologia. 2023: 108469.

Neural processing differences of emotional facial expressions, while common in autism spectrum disorder (ASD), may be related to co-occurring alexithymia and interoceptive processing differences rather than autism per se. Here, we investigate relationships between alexithymia, interoceptive awareness of emotions, and functional connectivity during observation of facial expressions in youth (aged 8-17) with ASD (n = 28) compared to typically developing peers (TD; n = 37). Behaviorally, we found no significant differences between ASD and TD groups in interoceptive awareness of emotions, though alexithymia severity was significantly higher in the ASD group. In the ASD group, increased alexithymia was significantly correlated with lower interoceptive sensation felt during emotion. Using psycho-physiological interaction (PPI) analysis, the ASD group showed higher functional connectivity between the left ventral anterior insula and the left lateral prefrontal cortex than the TD group when viewing facial expressions. Further, alexithymia was associated with reduced left anterior insula-right precuneus connectivity and reduced right dorsal anterior insula-left ventral anterior insula connectivity when viewing facial expressions. In the ASD group, the degree of interoceptive sensation felt during emotion was positively correlated with left ventral anterior insula-right IFG connectivity when viewing facial expressions. However, across all participants, neither alexithymia nor interoceptive awareness of emotions predicted connectivity between emotion-related brain regions when viewing emotional facial expressions. To summarize, we found that in ASD compared to TD: 1) there is stronger connectivity between the insula and lateral prefrontal cortex; and 2) differences in interhemispheric and within left hemisphere connectivity between the insula and other emotion-related brain regions are related to individual differences in interoceptive processing and alexithymia. These results highlight complex relationships between alexithymia, interoception, and brain processing in ASD.

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4. Davies J, Heasman B, Livesey A, Walker A, Pellicano E, Remington A. Access to employment: A comparison of autistic, neurodivergent and neurotypical adults’ experiences of hiring processes in the United Kingdom. Autism : the international journal of research and practice. 2023: 13623613221145377.

Autistic people are less likely to have a job than non-autistic people. One reason for this may be that hiring processes (e.g. job applications, interviews) can be challenging for autistic people. To better understand the experiences of hiring processes in the United Kingdom, we asked 225 autistic, 64 neurodivergent (but not autistic) and 64 adults with no reported area of neurodivergence questions about their experiences using an online survey. We found a range of similarities and differences in responses. For example, participants in all three groups were frustrated with the focus on social skills in recruitment and said they wanted more practical methods (e.g. work trials) that help them show their skills and abilities. Autistic and otherwise neurodivergent participants discussed the importance of the environment (e.g. the interview/assessment room) in improving experiences. Participants also discussed how employers can impact whether somebody decides to disclose their diagnosis or needs – or not. Autistic people experienced some barriers to successful recruitment that non-autistic people did not. For example, autistic people felt they had to hide their autistic traits to gain employment and many autistic people were worried about being discriminated against if they disclosed that they were autistic during the hiring process. To make experiences better, our participants said that employers should offer candidates different recruitment methods and give them more information about the hiring process. They also said employers should improve their understanding of autism and other hidden disabilities so they know the challenges that people might face during recruitment.

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5. Friedman C. A Report on the Increased Payment Rates for HCBS for People with Intellectual and Developmental Disabilities During the COVID-19 Pandemic. Journal of developmental and physical disabilities. 2022: 1-20.

Recognizing the crisis the COVID-19 pandemic represents to the Home- and Community-Based Services (HCBS) service system and the health, safety, and quality of life of people with intellectual and developmental disabilities (IDD), states temporarily amended their HCBS programs to strengthen service delivery. States are able to temporarily amend their HCBS 1915(c) waiver programs by submitting Appendix K: Emergency Preparedness and Response Waivers to the Centers for Medicare and Medicaid Services (CMS). The aim of this study was to examine if, and how, states increased their reimbursement rates for HCBS IDD waiver services during the COVID-19 pandemic. To do so, we analyzed 294 Appendix Ks which amended HCBS 1915(c) waivers for people with IDD between the start of the pandemic and April 2022. During the pandemic, 34 states and the District of Columbia increased reimbursement rates for 2,435 services provided by 82 HCBS waivers for people with IDD. Increase in reimbursement rates ranged from 3.5% to 160.7%, with an average increase of 23.3%. States most frequently increased reimbursement for supports to live in one’s own home, residential habilitation, and health and professional services. In addition, 12 states and the District of Columbia offered one-time supplemental payments through 25 HCBS waivers for people with IDD. While increasing payments during the pandemic likely helped stabilize the HCBS service system during this period of crisis, what remains to be seen is how the IDD service system will function when this additional funding is discontinued.

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6. Han E, Scior K, Heath E, Umagami K, Crane L. Development of stigma-related support for autistic adults: Insights from the autism community. Autism : the international journal of research and practice. 2023: 13623613221143590.

Many autistic adults experience public stigma, which refers to negative attitudes and treatment from others. Because of that, some autistic adults may also apply unhelpful beliefs to themselves, which is known as internalised stigma. There is some evidence that both public stigma and internalised stigma are linked to poorer mental health in autistic adults. Clearly, it is crucial to change how society thinks and acts towards autistic people. There are several programmes that are trying to do this. But as change can be slow, support may also be needed to help autistic people cope with and challenge stigma. Using an online survey, we gathered the views of 144 autistic adults and parents/caregivers of autistic people in the United Kingdom on whether a stigma support programme for autistic adults is needed and, if so, what it should ‘look’ like. Most participants felt it was important for autistic adults to have support in managing stigma because of the harmful effects that stigma has on mental health and the challenges that autistic adults face in disclosing their diagnosis. However, participants were also concerned that such a programme could convey the message that autistic people, rather than society, need to change. Participants suggested that the programme should be positive and practical, helping autistic adults to understand and accept themselves, as well as learn context-specific strategies for responding to stigma and/or disclosing their diagnosis. They also stressed that the programme should be flexible and inclusive, recognising that autistic adults have very different needs and preferences.

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7. Joseph RM, Lai ER, Bishop S, Yi J, Bauman ML, Frazier JA, Santos HP, Jr., Douglas LM, Kuban KKC, Fry RC, O’Shea TM. Comparing autism phenotypes in children born extremely preterm and born at term. Autism research : official journal of the International Society for Autism Research. 2023.

Children born preterm are at increased risk for autism spectrum disorder (ASD). There is limited knowledge about whether ASD phenotypes in children born preterm differ from children born at term. The objective of this study was to compare ASD core symptoms and associated characteristics among extremely preterm (EP) and term-born children with ASD. EP participants (n = 59) from the Extremely Low Gestational Age Newborn Study who met diagnostic criteria for ASD at approximately 10 years of age were matched with term-born participants from the Simons Simplex Collection on age, sex, spoken language level, and nonverbal IQ. Core ASD symptomatology was evaluated with the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS). Developmental milestones, anthropometrics, seizure disorder, and psychiatric symptoms were also investigated. The EP group had lower parent-reported symptom scores on ADI-R verbal communication, specifically stereotyped language, and restricted, repetitive behaviors. There were no between-group differences on ADI-R nonverbal communication and ADI-R reciprocal social interaction or with direct observation on the ADOS-2. The EP group was more likely to have delayed speech milestones and lower physical growth parameters. Results from female-only analyses were similar to those from whole-group analyses. In sum, behavioral presentation was similar between EP and IQ- and sex-matched term-born children assessed at age 10 years, with the exception of less severe retrospectively reported stereotyped behaviors, lower physical growth parameters, and increased delays in language milestones among EP-born children with ASD.

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8. Karen Nenonene E, Trottier-Lavoie M, Marchais M, Bastien A, Gilbert I, Macaulay AD, Khandjian EW, Maria Luciano A, Lodde V, Viger RS, Robert C. Roles of the cumulus-oocyte transzonal network and the Fragile X protein family in oocyte competence. Reproduction (Cambridge, England). 2023; 165(2): 209-19.

IN BRIEF: RNA granules travel through the cumulus cell network of transzonal projections which is associated with oocyte developmental competence, and RNA packaging involves RNA-binding proteins of the Fragile X protein family. ABSTRACT: The determinants of oocyte developmental competence have puzzled scientists for decades. It is known that follicular conditions can nurture the production of a high-quality oocyte, but the underlying mechanisms remain unknown. Somatic cumulus cells most proximal to the oocyte are known to have cellular extensions that reach across the zona pellucida and contact with the oocyte plasma membrane. Herein, it was found that transzonal projections (TZPs) network quality is associated with developmental competence. Knowing that ribonucleoparticles are abundant within TZPs, the distribution of RNA-binding proteins was studied. The Fragile X-related proteins (FXR1P and FXR2P) and two partnering protein families, namely cytoplasmic FMRP-interacting protein and nuclear FMRP-interacting protein, exhibited distinctive patterns consistent with roles in regulating mRNA packaging, transport, and translation. The expression of green fluorescent protein (GFP)-FMRP fusion protein in cumulus cells showed active granule formation and their transport and transfer through filipodia connecting with neighboring cells. Near the projections’ ends was found the cytoskeletal anchoring protein Filamin A and active protein synthesis sites. This study highlights key proteins involved in delivering mRNA to the oocyte. Thus, cumulus cells appear to indeed support the development of high-quality oocytes via the transzonal network.

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9. Liloia D, Manuello J, Costa T, Keller R, Nani A, Cauda F. Atypical local brain connectivity in pediatric autism spectrum disorder? A coordinate-based meta-analysis of regional homogeneity studies. European archives of psychiatry and clinical neuroscience. 2023.

Despite decades of massive neuroimaging research, the comprehensive characterization of short-range functional connectivity in autism spectrum disorder (ASD) remains a major challenge for scientific advances and clinical translation. From the theoretical point of view, it has been suggested a generalized local over-connectivity that would characterize ASD. This stance is known as the general local over-connectivity theory. However, there is little empirical evidence supporting such hypothesis, especially with regard to pediatric individuals with ASD (age [Formula: see text] 18 years old). To explore this issue, we performed a coordinate-based meta-analysis of regional homogeneity studies to identify significant changes of local connectivity. Our analyses revealed local functional under-connectivity patterns in the bilateral posterior cingulate cortex and superior frontal gyrus (key components of the default mode network) and in the bilateral paracentral lobule (a part of the sensorimotor network). We also performed a functional association analysis of the identified areas, whose dysfunction is clinically consistent with the well-known deficits affecting individuals with ASD. Importantly, we did not find relevant clusters of local hyper-connectivity, which is contrary to the hypothesis that ASD may be characterized by generalized local over-connectivity. If confirmed, our result will provide a valuable insight into the understanding of the complex ASD pathophysiology.

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10. Maltman N, Hilvert E, Friedman L, Sterling A. Comparison of Linguistic Error Production in Conversational Language Among Boys With Fragile X Syndrome + Autism Spectrum Disorder and Autistic Boys. Journal of speech, language, and hearing research : JSLHR. 2023: 1-18.

PURPOSE: Expressive language impairments are common among school-age boys with fragile X syndrome (FXS) and autistic boys. Given the high co-occurrence of autism spectrum disorder (ASD) among individuals with FXS, cross-condition comparisons can elucidate the specificity of such impairments as they relate to ASD. Language samples can provide fruitful information regarding individuals’ grammatical skills in less structured formats relative to standardized measures. This study examined grammatical errors produced during a conversational language sample among 20 boys with FXS and co-occurring ASD (FXS + ASD) and 19 autistic boys matched on ASD severity. METHOD: Language samples were coded for omissions and errors at the word and utterance levels. Participants’ grammatical errors were also compared to separate mental age-matched and mean length of utterance-matched boys from a reference database. RESULTS: Boys with FXS + ASD and autistic boys produced similar rates of errors across all categories. Relative to their matched comparison groups, boys with FXS + ASD and autistic boys produced significantly more omissions during conversation. CONCLUSIONS: These findings suggest that omissions may be a unique grammatical marker associated with the ASD phenotype. Further examination of omissions across diagnostic groups would aid in clarifying the specificity of omissions in the language phenotype of ASD.

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11. McMaughan DJD, Imanpour S, Mulcahy A, Jones J, Criss MM. Mental health-related hospitalizations among adolescents and emerging adults with autism in the United States: A retrospective, cross-sectional analysis of national hospital discharge data. Autism : the international journal of research and practice. 2023: 13623613221143592.

Autistic young people are more likely to have mental health conditions, like depression and bipolar disorder, than people without autism. These mental health issues sometimes lead to hospitalizations, which can be expensive and traumatic. Because of this, we wanted to understand mental health-related hospitalizations among autistic young people aged 10-20. We found that the main mental health reasons for the hospitalization of autistic young people were neurodevelopmental, disruptive, depressive, and bipolar disorders. These hospitalizations cost an average of US$7401.23 per stay, for a total of US$106 million in service delivery costs in 2016. Mental health-related hospitalizations were compared between young people with autism, young people with complex and chronic conditions, and young people with no chronic conditions. Autistic young people were almost 11 times more likely to be hospitalized for mental health reasons than young people with complex and chronic conditions, and two times more likely than young people with no complex and chronic conditions. We believe the United States needs better community-based mental health care for young people with autism.

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12. Meguid NA, Hashem HS, Ghanem MH, Helal SA, Semenova Y, Hashem S, Hashish A, Chirumbolo S, Elwan AM, Bjørklund G. Evaluation of Branched-Chain Amino Acids in Children with Autism Spectrum Disorder and Epilepsy. Molecular neurobiology. 2023.

Autism spectrum disorder (ASD) and epilepsy run hand-to-hand in their pathophysiology. Epilepsy is not an uncommon finding in patients with ASD. The aim of the present study was to identify the metabolic abnormalities of BCAAs (leucine, isoleucine, and valine) in children with ASD with and without seizures in comparison with neurotypical controls. Also, this study aimed to investigate the presence of epileptiform discharges on electroencephalography (EEG) in ASD patients and to describe the types and frequency of seizures observed. The study included 90 children aged 2-7 years, 30 of whom were diagnosed with both ASD and epilepsy. The other 30 children were diagnosed as ASD without epilepsy, and a comparable 30 normally developed children served as a control group. The groups were matched by age and gender. All patients were referred to the Autism Disorders Clinic for interviews and examinations. The Childhood Autism Rating Scale (CARS) was applied to all study participants to assess the degree of autism. The present study results show that all types of seizures may be identified in ASD children. The median serum levels of BCAAs were lower in ASD children with and without epilepsy than in neurotypical controls. This opens the door for discussion about new etiologies and better categorizations of ASD based on genotype and genetic abnormalities detected. More studies with larger samples are needed to understand ASD better and to more reliable evaluate the association between ASD, EEG changes, seizures, and BCAAs.

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13. Mitchell DE, Miranda-Rottmann S, Blanchard M, Araya R. Altered integration of excitatory inputs onto the basal dendrites of layer 5 pyramidal neurons in a mouse model of Fragile X syndrome. Proceedings of the National Academy of Sciences of the United States of America. 2023; 120(2): e2208963120.

Layer 5 (L5) pyramidal neurons receive predictive and sensory inputs in a compartmentalized manner at their apical and basal dendrites, respectively. To uncover how integration of sensory inputs is affected in autism spectrum disorders (ASD), we used two-photon glutamate uncaging to activate spines in the basal dendrites of L5 pyramidal neurons from a mouse model of Fragile X syndrome (FXS), the most common genetic cause of ASD. While subthreshold excitatory inputs integrate linearly in wild-type animals, surprisingly those with FXS summate sublinearly, contradicting what would be expected of sensory hypersensitivity classically associated with ASD. We next investigated the mechanism underlying this sublinearity by performing knockdown of the regulatory β4 subunit of BK channels, which rescued the synaptic integration, a result that was corroborated with numerical simulations. Taken together, these findings suggest that there is a differential impairment in the integration of feedforward sensory and feedback predictive inputs in L5 pyramidal neurons in FXS and potentially other forms of ASD, as a result of specifically localized subcellular channelopathies. These results challenge the traditional view that FXS and other ASD are characterized by sensory hypersensitivity, proposing instead a hyposensitivity of sensory inputs and hypersensitivity of predictive inputs onto cortical neurons.

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14. Ren B, Burkovetskaya M, Jung Y, Bergdolt L, Totusek S, Martinez-Cerdeno V, Stauch K, Korade Z, Dunaevsky A. Dysregulated cholesterol metabolism, aberrant excitability and altered cell cycle of astrocytes in fragile X syndrome. Glia. 2023.

Fragile X syndrome (FXS), the most prevalent heritable form of intellectual disability, is caused by the transcriptional silencing of the FMR1 gene. While neuronal contribution to FXS has been extensively studied in both animal and human-based models of FXS, the roles of astrocytes, a type of glial cells in the brain, are largely unknown. Here, we generated a human-based FXS model via differentiation of astrocytes from human-induced pluripotent stem cells (hiPSCs) and human embryonic stem cells (hESCs) and characterized their development, function, and proteomic profiles. We identified shortened cell cycle, enhanced Ca(2+) signaling, impaired sterol biosynthesis, and pervasive alterations in the proteome of FXS astrocytes. Our work identified astrocytic impairments that could contribute to the pathogenesis of FXS and highlight astrocytes as a novel therapeutic target for FXS treatment.

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15. Rezayi S, Tehrani-Doost M, Shahmoradi L. Features and effects of computer-based games on cognitive impairments in children with autism spectrum disorder: an evidence-based systematic literature review. BMC psychiatry. 2023; 23(1): 2.

INTRODUCTION: Children with Autism Spectrum Disorder (ASD) have different cognitive and intelligence profiles than typical developing individuals. Some of these children need cognitive rehabilitation. This study’s main purpose is to provide a systematic review about applying computerized cognitive games for autistic children and to determine the effectiveness of such interventions. MATERIAL AND METHODS: A thorough search of the ISI Web of Science, Medline (through PubMed), Scopus, IEEE Xplore, and APA PsycInfo databases was performed for articles published from inception to May 17, 2022. RESULTS: Of 1746 papers, 28 studies were found to be eligible in this systematic review. Fifteen studies (53.57%) compared a Control Group (CG) with Experimental Groups (EGs), while 13 papers (46.42%) evaluated only the impact of the applied intervention in an experimental group. Major domains of cognitive functions are divided into five main categories: 1. Executive functions, 2. Social cognition/emotions, 3. Attention/concentration, 4. Learning and memory, and 5. Language. In 42.85% (12 studies) of the screened papers, social cognition and emotions were assessed after cognitive rehabilitation. The highest rate of effects reported by studies were related to social cognition enhancement. Of the total number of included studies, 17 studies reported a positive effect at all scales, of which nine were quasi-experimental, and seven were fully experimental. CONCLUSION: Using suitable computerized game-based solutions could enhance cognition indexes in autistic children. Hence, further investigation is needed to determine the real effectiveness of these novel technologies.

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16. Schneeweiss MR, Dale B, Ejaz R. Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant. BMJ case reports. 2022; 15(12).

TCF20-associated neurodevelopmental disorder (TAND) is a rare and phenotypically variable genetic condition. Common features include intellectual disability, neurobehavioural concerns, postnatal tall stature and hypotonia.Two unrelated early adolescent males were referred to genetics for assessment of developmental delay. The first male of Caucasian descent had a history of autism spectrum disorder (ASD), mitral valve prolapse and subtle craniofacial dysmorphisms. The second male of Somali descent had a history of intellectual disability, thick corpus callosum and ASD. Whole-exome sequencing revealed a pathogenic variant in TCF20 in both individuals. Further testing revealed that the former individual’s mother was mosaic for the TCF20 pathogenic variant.We report two individuals with TCF20 pathogenic variants presenting with unique findings, including thick corpus callosum, family history of mosaicism and cardiac anomalies. These examples expand the TAND phenotype, describe associated dysmorphism in a minority group and highlight the importance of rare disease research.

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17. Wang H, Liu S, Xu J, Hu X, Han ZR. Daily experiences and well-being of Chinese parents of children with autism. Autism : the international journal of research and practice. 2023: 13623613221144191.

The present study examined the influences of child-related stress, parental coping and social support on parental daily subjective well-being (i.e. positive and negative affect, life satisfactory) in Chinese families of children with autism spectrum disorder. For 14 days, a total of 76 parents (58 mothers) participated in the study and completed daily diaries. For mothers, child-related stress was related to lower life satisfaction; social support was related to higher life satisfaction that day. These daily relations were not found for fathers. Across all parents, avoidant coping was associated with higher negative affect and lower positive affect on the same day. Notably, daily positive coping was related to greater same-day positive affect as well as greater same-day and next-day life satisfaction. Interventions aimed at increasing positive coping and social support, and reducing child-related stress and avoidant coping are important to help parents maintain well-being, particularly for mothers of children with autism.

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18. Yabuki Y, Shioda N. [The neuropathological mechanism on guanine-rich repeat expansion diseases]. Nihon yakurigaku zasshi Folia pharmacologica Japonica. 2023; 158(1): 30-3.

Repeat expansion diseases are caused by the aberrant repeat expansions within specific genes. RNAs derived from aberrant repeat sequences form non-canonical secondary structures, contributing to induce cell toxicity. In particular, RNA G-quadruplexes (G4RNAs) formed in guanine-rich repeat expanded RNAs trigger neurodegeneration. We have previously shown that the expanded CGG repeat-derived G4RNAs initiate aggregation of FMRpolyG, a neuropathogenic protein generated by repeat-associated non-AUG (RAN) translation in Fragile X-associated tremor/ataxia syndrome (FXTAS). In this review, we describe the neuropathological mechanism attributed to G4RNAs in guanine-rich repeat expansion diseases, including FXTAS.

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19. Yaşar M, Çetin FH, Türkoğlu S, Uçar HN. The relationship between executive functions and chronotype in healthy siblings of children with autism spectrum disorder. Chronobiology international. 2023: 1-9.

The aim of this study is to examine executive functions in healthy siblings of children with autism spectrum disorder (ASD) and to evaluate the relationship between chronotype and executive functions (EF). This study included 40 healthy siblings (case group) of children with ASD and 40 healthy controls. Executive functions were evaluated by Stroop Test, Serial Digit Learning Test (SDLT) and Cancellation Test (CT). Children’s Chronotype Questionnaire (CCTQ) and Autism Spectrum Screening Questionnaire (ASSQ) were administered to parents. It was determined that the Stroop Test and CT performances of the case group were significantly worse than the control group. There was no difference in SDLT. It was determined that the total CCTQ score of the case group was significantly higher. In addition, a significant positive correlation was found between the chronotype total score and the number of false targets in the second part of CT. In the logistic regression analysis; the chronotype total score, Stroop test fifth part correction number and CT fourth part error number were determined as possible factors in the differentiation of the case and control groups. More studies are needed to evaluate the relationship between executive functions and chronotype in siblings of children with ASD.

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