1. Adamson J, Brede J, Babb C, Serpell L, Jones CRG, Fox J, Mandy W. Towards identifying a method of screening for autism amongst women with restrictive eating disorders. Eur Eat Disord Rev;2022 (Jul 5)

OBJECTIVE: Up to 37% of patients with anorexia nervosa score above cut-off on autism screening measures. These individuals typically have poorer outcomes from standard eating disorder interventions and could therefore benefit from adaptations. Accurately identifying these individuals is important for improving autism referral processes and clinical pathway decisions. This study’s aim was to identify subscales of questionnaires measuring constructs associated with either autism or eating disorders that, when combined with traditional autism screening measures, would improve the ability to identify women with restrictive eating disorders who might benefit from a full autism assessment. METHOD: One hundred and sixty women with restrictive eating disorders, with (n = 42) or without (n = 118) an autism diagnosis completed a battery of questionnaires. Using conditional stepwise binary logistic regression, we attempted to improve the autism spectrum quotient 10 item’s (AQ-10) ability to discriminate between autistic and non-autistic women in a restrictive eating disorder sample. RESULTS: In a binary logistic regression model, the AQ-10 reliably discriminated between autistic and non-autistic women with an accuracy rate of 85% but had relatively low (69%) sensitivity, reflecting a high rate of false negatives. Adding three subscales to the model (Glasgow Sensory Questionnaire Auditory, Camouflaging Autistic Traits Questionnaire Compensation and Toronto Alexithymia Scale Externally Orientated Thinking) significantly improved its differentiating ability (accuracy = 88%, sensitivity = 76%, specificity = 92%). CONCLUSIONS: We have identified three subscales that, when used in combination with the AQ-10, may help clinicians understand the pattern of autistic traits in their patients with a restrictive eating disorder. This can inform clinical decisions about whether to refer for a full autism assessment and whether to adapt standard eating disorder treatments to accommodate autistic traits. Future studies are needed to test the model in samples where participants have undergone a full autism assessment.

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2. Ali D, O’Brien S, Hull L, Kenny L, Mandy W. ‘The key to this is not so much the technology. It’s the individual who is using the technology’: Perspectives on telehealth delivery for autistic adults during the COVID-19 pandemic. Autism;2022 (Jul 6):13623613221108010.

The COVID-19 pandemic meant that a lot of healthcare services had to move online, such as to video-calls, or to telephone. However, not many studies have looked at how autistic adults feel about this kind of service delivery. It is important to know this, as autistic people may have poorer health than non-autistic people, and they may also struggle to access services more than non-autistic people. This study asked 11 autistic adults (aged 27-67 years), seven family members/carers (aged 44-75) reporting about autistic adults and six service providers about their experiences of accessing or providing a telehealth service. These experiences were collected through interviews, which were then analysed through thematic analysis. Two main themes were: technology aids communication and access – except when it doesn’t, and in/flexibility. The themes pointed out some positive aspects of telehealth delivery, including improved communication and decreased stress. The themes also pointed out negative aspects of telehealth, such as increased rigidity of the healthcare system, amplifying pre-existing barriers. Because autistic people have many barriers to accessing healthcare, this study encourages researchers and healthcare providers to think about how such barriers could be addressed through telehealth, and about the possible limitations of telehealth for some autistic people.

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3. Avolio E, Olivito I, Rosina E, Romano L, Angelone T, Bartolo Anna D, Scimeca M, Bellizzi D, D’Aquila P, Passarino G, Alò R, Maria Facciolo R, Bagni C, De Lorenzo A, Canonaco M. Modifications of behavior and inflammation in mice following transplant with fecal microbiota from children with autism. Neuroscience;2022 (Jul 2)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder displaying the modification of complex human behaviors, characterized by social interaction impairments, stereotypical/repetitive activities and emotional dysregulation. In this study, fecal microbiota transplant (FMT) via gavage from autistic children donors to mice, leads to the colonization of ASD-like microbiota and autistic behaviors compared to the offspring of pregnant females exposed to valproic acid (VPA). Such variations seemed to be tightly associated with increased populations of Tenericutes plus a notable reduction (p<0.001) of Actinobacteria and Candidatus S. in the gastrointestinal region of FMT mice compared to controls. Indeed altered behaviors of FMT mice was reported when evaluated in the different maze tests (light dark, novel object, three chamber tests, novel cage test). Contextually, FMT accounted for elevated expression levels of the pro-inflammatory factors IL-1β, IL-6, COX-1 and TNF-α in both brain and small intestine. Villous atrophy and inflammatory infiltration (Caspase 3 and Ki67) were increased in the small intestine of FMT and VPA mice compared to controls. Moreover, the observed FMT-dependent alterations were probably due to a decrease in the methylation status. Overall, findings of the present study corroborate a key role of gut microbiota in ASD. However, further investigations are required before any possible manipulation of gut bacteria with appropriate diets or probiotics in ASD individuals.

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4. Berry-Kravis E. Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders. J Child Neurol;2022 (Jul 5):8830738221089740.

Fragile X syndrome (FXS), the most common monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease were identified, leading to the concept of targeting the underlying disease to reverse symptoms. Translating findings in basic science and animal models to humans with FXS has proven difficult. These challenges have prompted the FXS field to organize to build interlocking projects and initiatives to improve consistency of supportive care, make clinical research accessible to families, generate collaborative research on natural history, outcome measures and biomarkers, and create clinical trial consortia and novel trial designs. This work has resulted in improved success in recent clinical trials, providing key steps toward regulatory approval of disease-targeted treatments for FXS. Progress in the FXS field has informed translation of transformative new disease-targeted therapies for other monogenic neurodevelopmental disorders.

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5. Bin Eid W, Lim M, Halstead E, Esposito G, Dimitriou D. A cross-cultural comparison of sleep patterns between typically developing children and children with ASD living in Saudi Arabia and the United Kingdom. Res Dev Disabil;2022 (Jul 7);128:104290.

BACKGROUND: Sleep is crucial for child development, especially for children with ASD. While it is known that children with ASD experience more severe sleep problems and that these problems tend to persist compared to their typically developing counterparts, these findings tend to come from only Western countries. A cross-cultural study is important to understand if the prevailing understanding of sleep in children with ASD can be extended to different cultural backgrounds. AIM: A cross-cultural study is conducted, involving typically developing children and children with ASD aged 5-12 across two countries: Saudi Arabia and the United Kingdom. METHODS AND PROCEDURES: Using a combination of questionnaires measuring ASD severity (CARS-2), sleep quality (CSHQ), sociodemographic and lifestyle variables and sleep diaries, 244 children were sampled using a mixture of snowball and convenience sampling methods. OUTCOMES AND RESULTS: Children with ASD experience more sleep problems compared to typically developing children in Saudi Arabia, and these problems similarly persist across time. Specifically, it was found that children with ASD in Saudi Arabia experience greater sleep onset latency and a greater number of night awakenings. Additionally, across the ASD groups, it was found that children from Saudi Arabia generally experienced poorer sleep than children in the United Kingdom in terms of shorter sleep duration, although children in the United Kingdom tended to report more instances of sleep anxiety and parasomnias. CONCLUSIONS AND IMPLICATIONS: Several reasons such as parental education about sleep hygiene, cultural influences and social hours were put forward as potential explanations for cross-cultural differences. Findings served to emphasise the importance of culturally-appropriate interventions and public education regarding child sleep.

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6. Brewer N, Lucas CA, Georgopoulos MA, Young RL. Facing up to others’ emotions: No evidence of autism-related deficits in metacognitive awareness of emotion recognition. Autism Res;2022 (Jul 7)

Emotion recognition difficulties are considered to contribute to social-communicative problems for autistic individuals and awareness of such difficulties may be critical for the identification and pursuit of strategies that will mitigate their adverse effects. We examined metacognitive awareness of face emotion recognition responses in autistic (N = 63) and non-autistic (N = 67) adults across (a) static, dynamic and social face emotion stimuli, (b) free- and forced-report response formats, and (c) four different sets of the six « basic » and six « complex » emotions. Within-individual relationships between recognition accuracy and post-recognition confidence provided no indication that autistic individuals were poorer at discriminating correct from incorrect recognition responses than non-autistic individuals, although both groups exhibited marked inter-individual variability. Although the autistic group was less accurate and slower to recognize emotions, confidence-accuracy calibration analyses provided no evidence of reduced sensitivity on their part to fluctuations in their emotion recognition performance. Across variations in stimulus type, response format and emotion, increases in accuracy were associated with progressively higher confidence, with similar calibration curves for both groups. Calibration curves for both groups were, however, characterized by overconfidence at the higher confidence levels (i.e., overall accuracy less than the average confidence level), with the non-autistic group contributing more decisions with 90%-100% confidence. Comparisons of slow and fast responders provided no evidence of a « hard-easy » effect-the tendency to exhibit overconfidence during hard tasks and underconfidence during easy tasks-suggesting that autistic individuals’ slower recognition responding may reflect a strategic difference rather than a processing speed limitation. LAY SUMMARY: It is generally considered that autistic individuals may have difficulty recognizing other people’s facial emotions. However, little is known about their awareness of any emotion recognition difficulties they may experience. This study indicates that, although there is considerable individual variability, autistic adults were as sensitive to variations in the accuracy of their recognition of others’ emotions as their non-autistic peers.

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7. Carpenter KL, Williams DM. A meta-analysis and critical review of metacognitive accuracy in autism. Autism;2022 (Jul 7):13623613221106004.

The ability to make accurate judgements about our own and others’ mental states has been widely researched; however, it is unclear how these two abilities relate to each other. This is important given that there is evidence that autistic individuals can have difficulty with accurately judging others’ mental states. Recent evidence suggests that some autistic individuals may also have difficulty accurately judging their own mental states. This may have an impact on various aspects of everyday life but particularly academic success, and therefore it is important that this skill is not overlooked when exploring areas of individual support. The aim of this article is to bring together the research examining autistic individual’s ability of making accurate judgements about their own mental states and to establish whether this is an area that warrants further investigation. The results from this article show that autistic individuals may have difficulty making accurate judgements about their own mental states, although this depends on the type of judgement being made. It also highlighted that while autistic children may have difficulties in some areas, these may improve by adulthood. Overall, this article shows that more research is needed to fully understand where specific difficulties lie and how they may be overcome.

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8. Chien YL, Lin HY, Tung YH, Hwang TJ, Chen CL, Wu CS, Shang CY, Hwu HG, Tseng WI, Liu CM, Gau SS. Neurodevelopmental model of schizophrenia revisited: similarity in individual deviation and idiosyncrasy from the normative model of whole-brain white matter tracts and shared brain-cognition covariation with ADHD and ASD. Mol Psychiatry;2022 (Jul 6)

The neurodevelopmental model of schizophrenia is supported by multi-level impairments shared among schizophrenia and neurodevelopmental disorders. Despite schizophrenia and typical neurodevelopmental disorders, i.e., autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), as disorders of brain dysconnectivity, no study has ever elucidated whether whole-brain white matter (WM) tracts integrity alterations overlap or diverge between these three disorders. Moreover, whether the linked dimensions of cognition and brain metrics per the Research Domain Criteria framework cut across diagnostic boundaries remains unknown. We aimed to map deviations from normative ranges of whole-brain major WM tracts for individual patients to investigate the similarity and differences among schizophrenia (281 patients subgrouped into the first-episode, subchronic and chronic phases), ASD (175 patients), and ADHD (279 patients). Sex-specific WM tract normative development was modeled from diffusion spectrum imaging of 626 typically developing controls (5-40 years). There were three significant findings. First, the patterns of deviation and idiosyncrasy of WM tracts were similar between schizophrenia and ADHD alongside ASD, particularly at the earlier stages of schizophrenia relative to chronic stages. Second, using the WM deviation patterns as features, schizophrenia cannot be separated from neurodevelopmental disorders in the unsupervised machine learning algorithm. Lastly, the canonical correlation analysis showed schizophrenia, ADHD, and ASD shared linked cognitive dimensions driven by WM deviations. Together, our results provide new insights into the neurodevelopmental facet of schizophrenia and its brain basis. Individual’s WM deviations may contribute to diverse arrays of cognitive function along a continuum with phenotypic expressions from typical neurodevelopmental disorders to schizophrenia.

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9. DeLucia EA, McFayden TC, Fok M, Andrzejewski TM, Scarpa A, McDonnell CG. Frequency and correlates of augmentative and alternative communication use in an autistic inpatient sample. J Autism Dev Disord;2022 (Jul 7)

Although augmentative and alternative communication (AAC) strategies are often used by autistic youth, little is known about the use of AAC in inpatient psychiatric settings. This study evaluated how demographic and clinical factors (e.g., language level, IQ) related to AAC use in a well-characterized sample of 527 autistic youth (78.7% male, mean age 12.94) who participated in the Autism Inpatient Collection. AAC use was common, with 42.5% of caregivers reporting at least one form of AAC. White children were more likely to use AAC than non-white children at the bivariate level. In regression analyses, young children were more likely to use AAC than older children. These results suggest the importance of provider training and improved equitable access to AAC.

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10. Fajardo I, Joseph H. Brief report: Autistic students read between lines. J Autism Dev Disord;2022 (Jul 6)

Students with Autism Spectrum Disorder (ASD) tend to struggle with reading comprehension, often resulting in difficulties with inference generation. While most of the previous research has focused on the product of comprehension, we report a preliminary validation of an experimental reading task in English to measure, by means of eye-movements, the time course of generating consistent and inconsistent inferences during reading. The task was tested with a group of 12 students with ASD (age range: 10-15) who showed accuracy differences between inference and control conditions. Participants spent longer reading in the inconsistent than control condition regarding go past times and second pass times and made more regressions into the target and post-target regions, but these differences were not significant.

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11. Gozes I. From the Desk of the Editor‑in‑Chief: Excerpts from the Society for Neurochemistry (ESN) Future Perspectives for European Neurochemistry Highlighting the Symposium Asking « Autism, Epilepsy, Intellectual Disability Where Do These All Meet? ». J Mol Neurosci;2022 (Jul 7)

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12. Han Y, Rizzo DM, Hanley JP, Coderre EL, Prelock PA. Identifying neuroanatomical and behavioral features for autism spectrum disorder diagnosis in children using machine learning. PLoS One;2022;17(7):e0269773.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that can cause significant social, communication, and behavioral challenges. Diagnosis of ASD is complicated and there is an urgent need to identify ASD-associated biomarkers and features to help automate diagnostics and develop predictive ASD models. The present study adopts a novel evolutionary algorithm, the conjunctive clause evolutionary algorithm (CCEA), to select features most significant for distinguishing individuals with and without ASD, and is able to accommodate datasets having a small number of samples with a large number of feature measurements. The dataset is unique and comprises both behavioral and neuroimaging measurements from a total of 28 children from 7 to 14 years old. Potential biomarker candidates identified include brain volume, area, cortical thickness, and mean curvature in specific regions around the cingulate cortex, frontal cortex, and temporal-parietal junction, as well as behavioral features associated with theory of mind. A separate machine learning classifier (i.e., k-nearest neighbors algorithm) was used to validate the CCEA feature selection and for ASD prediction. Study findings demonstrate how machine learning tools might help move the needle on improving diagnostic and predictive models of ASD.

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13. Havdahl A, Wootton RE, Leppert B, Riglin L, Ask H, Tesli M, Bugge Askeland R, Hannigan LJ, Corfield E, Øyen AS, Andreassen OA, Tilling K, Davey Smith G, Thapar A, Reichborn-Kjennerud T, Stergiakouli E. Associations Between Pregnancy-Related Predisposing Factors for Offspring Neurodevelopmental Conditions and Parental Genetic Liability to Attention-Deficit/Hyperactivity Disorder, Autism, and Schizophrenia: The Norwegian Mother, Father and Child Cohort Study (MoBa). JAMA Psychiatry;2022 (Jul 6)

IMPORTANCE: Several maternal exposures during pregnancy are considered predisposing factors for offspring neurodevelopmental conditions. However, many of these exposures may be noncausal and biased by maternal genetic liability. OBJECTIVE: To assess whether pregnancy-related predisposing factors for offspring neurodevelopmental conditions are associated with maternal genetic liability for attention-deficit/hyperactivity disorder (ADHD), autism, and schizophrenia and to compare associations for maternal genetic liability with those for paternal genetic liability, which could indicate that paternal exposures are not suitable negative controls for maternal exposures. DESIGN, SETTING, AND PARTICIPANTS: The Norwegian Mother, Father and Child Cohort Study (MoBa) is a population-based pregnancy cohort that recruited parents from June 1999 to December 2008. Polygenic scores (PGS) for ADHD, autism, and schizophrenia were derived in mothers and fathers. The associations between maternal PGS and 37 pregnancy-related measures were estimated, and these results were compared with those from paternal PGS predicting paternal measures during the mother’s pregnancy. Analysis took place between March 2021 and March 2022. EXPOSURES: PGS for ADHD, autism, and schizophrenia, calculated (using discovery effect size estimates and threshold of P < .05) from the largest available genome-wide association studies. MAIN OUTCOMES AND MEASURES: Self-reported pregnancy-related measures capturing lifestyle behaviors, metabolism, infectious and autoimmune diseases, other physical health conditions, and medication use. RESULTS: Data were available for up to 14 539 mothers (mean [SD] age, 30.00 [4.45] years) and 14 897 fathers (mean [SD] age, 32.46 [5.13] years) of European ancestry. Modest but robust associations were observed between specific pregnancy-related measures and maternal PGS, including ADHD PGS with asthma (odds ratio [OR], 1.15 [95% CI, 1.06-1.25]), smoking (OR, 1.26 [95% CI, 1.19-1.33]), prepregnancy body mass index (β, 0.25 [95% CI, 0.18-0.31]), pregnancy weight gain (β, 0.20 [95% CI, 0.10-0.30]), taking folate (OR, 0.92 [95% CI, 0.88-0.96]), and not taking supplements (OR, 1.09 [95% CI, 1.04-1.14]). Schizophrenia PGS was associated with coffee consumption (OR, 1.09 [95% CI, 1.05-1.12]), smoking (OR, 1.12 [95% CI, 1.06-1.19]), prepregnancy body mass index (β, -0.18 [95% CI, -0.25 to -0.11]), and pregnancy weight gain (β, 0.17 [95% CI, 0.07-0.27]). All 3 PGSs associated with symptoms of depression/anxiety (ADHD: OR, 1.15 [95% CI, 1.09-1.22]; autism: OR, 1.13 [95% CI, 1.06-1.19]; schizophrenia: OR, 1.13 [95% CI, 1.07-1.20]). Associations were largely consistent for maternal and paternal PGS, except ADHD PGS and smoking (fathers: OR, 1.13 [95% CI, 1.09-1.17]). CONCLUSIONS AND RELEVANCE: In this study, genetic liability to neurodevelopmental conditions that is passed from mothers to children was associated with several pregnancy-related factors and may therefore confound associations between these pregnancy-related factors and offspring neurodevelopment that have previously been thought to be causal. It is crucial that future study designs account for genetic confounding to obtain valid causal inferences so that accurate advice can be given to pregnant individuals.

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14. Hollander E, Jacob S, Jou R, McNamara N, Sikich L, Tobe R, Smith J, Sanders K, Squassante L, Murtagh L, Gleissl T, Wandel C, Veenstra-VanderWeele J. Balovaptan vs Placebo for Social Communication in Childhood Autism Spectrum Disorder: A Randomized Clinical Trial. JAMA Psychiatry;2022 (Jul 6)

IMPORTANCE: There are no approved medications for the core symptoms of autism spectrum disorder (ASD), socialization and communication difficulties. OBJECTIVE: To evaluate the efficacy and safety of balovaptan, an oral selective vasopressin 1a receptor antagonist, compared with placebo in children and adolescents with ASD. DESIGN, SETTING, AND PARTICIPANTS: The aV1ation study was a randomized, double-blind, 24-week, parallel-group, placebo-controlled phase 2 trial. Between November 22, 2016, and September 3, 2019, individuals were screened and randomly assigned to treatment groups. The primary efficacy analysis population comprised participants taking age-adjusted balovaptan equivalent to a 10-mg adult dose and participants from the concurrently randomized placebo group. This multicenter trial took place across 41 sites in the US. Participants were aged 5 to 17 years with diagnosed ASD and an IQ of 70 or greater. Data were analyzed from April 8 to November 16, 2020. INTERVENTIONS: Participants were randomly assigned to daily 4-mg or 10-mg adult-equivalent balovaptan or placebo, until the 4-mg group was discontinued. MAIN OUTCOMES AND MEASURES: The primary end point was change from baseline on the Vineland-II two-domain composite (2DC; socialization and communication domains) score at week 24. RESULTS: Between November 2016 and September 2019, a total of 599 individuals were screened and 339 participants were randomly assigned to receive 4-mg balovaptan adult-equivalent dose (91 [26.8%]), 10-mg balovaptan adult-equivalent dose (126 [37.2%]), or placebo (122 [36.0%]). Primary analysis included 86 participants assigned to receive 10-mg balovaptan adult-equivalent dose and 81 assigned to receive placebo (mean [SD] age, 12.1 [3.4] years; 139 male participants [83.2%]). No statistically significant differences were observed between the balovaptan and placebo groups in change from baseline on the Vineland-II 2DC score at week 24 (difference in adjusted least-squares mean, -0.16; 90% CI, -2.56 to 2.23; P = .91). No improvements for balovaptan vs placebo were observed at week 24 for any secondary end points. Balovaptan was well tolerated with no emerging safety concerns. Similar proportions of participants reported adverse events (balovaptan, 66 of 86 [76.7%] vs placebo, 61 of 81 [75.3%]) and serious adverse events (balovaptan, 1 of 86 [1.2%] vs placebo, 4 of 81 [4.9%]). CONCLUSIONS AND RELEVANCE: In this randomized clinical trial, balovaptan did not demonstrate efficacy in improvement of socialization and communication in this population with pediatric ASD. Balovaptan was well tolerated in children 5 years or older. Further development of robust, sensitive, and objective outcome measures may help to improve future studies in the assessment of therapies targeting communication and socialization in pediatric ASD. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02901431.

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15. Jung S, Park M. Shank postsynaptic scaffolding proteins in autism spectrum disorder: Mouse models and their dysfunctions in behaviors, synapses, and molecules. Pharmacol Res;2022 (Jul 2);182:106340.

Postsynaptic scaffolding proteins, which are major components of the postsynaptic density (PSD) at excitatory synapses, include Shank, PSD-95, A-kinase anchoring protein, Homer, and SAP90/PSD-95-associated protein families and play crucial roles in synaptic structure, signaling, and functions. Several genetic studies have indicated that postsynaptic scaffolding proteins contribute to the etiology of various psychiatric disorders, including neurodevelopmental disorders. Indeed, mice with mutations or deletions in specific genes encoding postsynaptic scaffolding proteins display alterations in behavioral phenotypes that are relevant to specific psychiatric disorders. Here, we review recent studies on various mutant mouse models of Shank postsynaptic scaffolding proteins associated with autism spectrum disorder, a major neurodevelopmental disorder, and discuss future directions and therapeutic strategies for the treatment of autism spectrum disorder.

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16. Kutílek Š, Rondziková-Mlynarčíková E, Pečenková K, Pikner R, Šmída T, Sládková E, Honzík T, Kolářová H, Magner M. Transient Hyperphosphatasemia in a Child with Autism Spectrum Disorder. Acta Medica (Hradec Kralove);2022;65(1):41-43.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors. Transient hyperphosphatasemia of infancy and early childhood (THI) is a benign laboratory disorder characterized by transiently extremely elevated activity of serum alkaline phosphatase (S-ALP). CASE REPORT: We present a 21-month-old girl with a right leg limp, most probably due to reactive arthritis after febrile viral infection, and deterioration of psychomotor development with concomitant transient elevation of S-ALP (61.74 μkat/L; normal 2.36-7.68 μkat/L). Normal values of serum creatinine, aspartate-aminotransferase, alanin-aminotransferase, calcium, phosphate, together with normal wrist X-ray ruled out rickets or other bone or hepatic cause of high S-ALP. The S-ALP gradually decreased within 3 months, thus fulfilling the THI criteria. Screening for inborn errors of metabolism was negative and meticulous neurologic, psychologic and psychiatric assessment pointed to the diagnosis of autism spectrum disorder (ASD). There was no causal relationship between THI and ASD, as high S-ALP was an accidental and transient finding within the routine laboratory assessment. However, when THI occurs in a child with an onset of a new disorder, or with a pre-existing bone or liver disease, it might seriously concern the physician. CONCLUSION: Children with THI should be spared from extensive evaluations and unnecessary blood draws.

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17. Liu J, Chen B, Liu Y, Kong J, Zhang B, Han L, Mei D, Ma CY, Shang Q, Xie Z, Xiao M, Mei S, Zhang Y, Gao C, Li D. Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability. Eur J Med Genet;2022 (Jul 3):104554.

Recessive mutations in glutamate pyruvate transaminase 2 (GPT2) have recently been found to be associated with intellectual and developmental disability (IDD). In this study, we discovered a homozygous missense variant, NM_133443: [c.1172C > T, p. Pro391Leu], of GPT2 on chromosome 16 in a proband diagnosed with IDD through trio whole-exome sequencing (WES). The pathogenicity of the variant was further verified by bioinformatics analysis and functional studies in vitro. This autosomal recessive disease was caused by paternal uniparental disomy (UPD) which was further proven by single nucleotide polymorphism array (SNP array). In past literature, recessive diseases in chromosome 16 were usually due to maternal UPD where Mendel’s law of inheritance was not applicable. However, in our case we found that paternal UPD can cause recessive diseases related to the GPT2 gene on chromosome 16. Our study provides an important line of evidence for the diagnosis of GPT2-related intellectual developmental disorders.

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18. McLeod JD, Anderson EM. Autistic Traits and College Adjustment. J Autism Dev Disord;2022 (Jul 7)

This study evaluated the association of autistic traits (RAADS-14) with academic and social outcomes among college students using data from an online survey (N = 2,736). In the academic domain, the total trait score and all subscale scores (mentalizing deficits, social anxiety, sensory reactivity) were associated with course failure and academic difficulties independent of an autism diagnosis; the total score and mentalizing deficits also predicted lower grade point average (GPA). In the social domain, the total trait score and subscale scores were associated with lower odds of having a confidant, lower friendship quality, and higher odds of social exclusion. Subgroup analyses revealed that autistic traits had more consistently negative associations with social outcomes for students without an autism diagnosis than for students with a diagnosis. Associations were also more often significant for women than men. These results support the development of programs and services for students with autistic traits regardless of diagnostic status.

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19. Nugent M, Ward J. Familial aggregation of synaesthesia with autism (but not schizophrenia). Cogn Neuropsychiatry;2022 (Jul 7):1-19.

INTRODUCTION: This study determines whether there is a familial aggregation between synaesthesia and two neuropsychiatric conditions (autism and schizophrenia). METHOD We examined the prevalence of autism and schizophrenia among synaesthetes and non-synaesthetic controls, and among their first-degree relatives. RESULTS: As predicted, autism occurred at elevated levels among synaesthetes and-we document for the first time-amongst their relatives. This was not found for schizophrenia, where a link may be expected, or in a control condition (type 1 diabetes) where we had no a priori reason to assume a link. Synaesthetes, compared to controls, were also more likely to have other synaesthetes in their family. People with three or more types of synaesthesia were more likely (compared to synaesthetes with fewer types) to have synaesthetic relatives and to report autism in themselves. People with two or more types of synaesthesia (compared to synaesthetes with only one type) were more likely to report familial autism. CONCLUSIONS: The results suggest a shared genetic predisposition between synaesthesia and autism, and more extreme synaesthetes may tend to hail from more neurodiverse families.

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20. Patel SP, Cole J, Lau JCY, Fragnito G, Losh M. Verbal entrainment in autism spectrum disorder and first-degree relatives. Sci Rep;2022 (Jul 7);12(1):11496.

Entrainment, the unconscious process leading to coordination between communication partners, is an important dynamic human behavior that helps us connect with one another. Difficulty developing and sustaining social connections is a hallmark of autism spectrum disorder (ASD). Subtle differences in social behaviors have also been noted in first-degree relatives of autistic individuals and may express underlying genetic liability to ASD. In-depth examination of verbal entrainment was conducted to examine disruptions to entrainment as a contributing factor to the language phenotype in ASD. Results revealed distinct patterns of prosodic and lexical entrainment in individuals with ASD. Notably, subtler entrainment differences in prosodic and syntactic entrainment were identified in parents of autistic individuals. Findings point towards entrainment, particularly prosodic entrainment, as a key process linked to social communication difficulties in ASD and reflective of genetic liability to ASD.

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21. Tse ACY, Lee PH, Lau EYY, Cheng JCH, Ho AWY, Lai EWH. Study protocol for a randomized controlled trial comparing the effectiveness of physical exercise and melatonin supplement on treating sleep disturbance in children with autism spectrum disorders. PLoS One;2022;17(7):e0270428.

BACKGROUND: Previous study showed that both melatonin supplement and physical exercise intervention could improve sleep quality in children with autism spectrum disorders (ASD) with the increase in endogenous melatonin level. However, none of the studies have directly compared the effectiveness between the two interventions on treating sleep disturbance in children with ASD. Without direct comparison, we do not know which intervention is better. Thus, we designed a study to compare which intervention is more effective to treat sleep disturbance in children with ASD and to examine whether the combination of the two could be the most efficacious. We present a protocol for conducting a randomized controlled trial to compare the effectiveness of physical exercise and melatonin supplement on treating sleep disturbance in children with ASD. STUDY DESIGN: The proposed study will be a four-group randomised control trial (RCT) design, with equal allocation of participants to the three intervention groups and one control group. METHODS: All eligible participants will be randomly allocated to a morning jogging group, a melatonin supplement group, a combination group and a control group. Changes in sleep quality will be monitored through actigraphic assessment and parental sleep logs. Melatonin levels represented by 6-sulfoxymelatonin will be measured from the participants’ 24-h and the first morning void urinary samples. All the assessments will be carried out before the intervention (T1), in the mid of the study (5 weeks after the commencement of the study) (T2) and after the 10-week intervention (T3). Level of statistical significance will be set at 5% (i.e. p < .05). The results of this trial will be submitted for publication in peer-reviewed journal. FINDINGS: The findings will provide evidence to determine whether physical exercise or melatonin supplement or the combination of interventions is the most effective to treat sleep disturbance in children with ASD.

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22. Xu P, Yue Y, Su J, Sun X, Du H, Liu Z, Simha R, Zhou J, Zeng C, Lu H. Pattern decorrelation in the mouse medial prefrontal cortex enables social preference and requires MeCP2. Nat Commun;2022 (Jul 6);13(1):3899.

Sociability is crucial for survival, whereas social avoidance is a feature of disorders such as Rett syndrome, which is caused by loss-of-function mutations in MECP2. To understand how a preference for social interactions is encoded, we used in vivo calcium imaging to compare medial prefrontal cortex (mPFC) activity in female wild-type and Mecp2-heterozygous mice during three-chamber tests. We found that mPFC pyramidal neurons in Mecp2-deficient mice are hypo-responsive to both social and nonsocial stimuli. Hypothesizing that this limited dynamic range restricts the circuit’s ability to disambiguate coactivity patterns for different stimuli, we suppressed the mPFC in wild-type mice and found that this eliminated both pattern decorrelation and social preference. Conversely, stimulating the mPFC in MeCP2-deficient mice restored social preference, but only if it was sufficient to restore pattern decorrelation. A loss of social preference could thus indicate impaired pattern decorrelation rather than true social avoidance.

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