1. Basaran I, Gozubuyuk E, Canbolat N, Edipoglu IS, Buget MI. Anesthetic management of scoliosis operation in a pediatric patient with Frank-ter Haar syndrome: a case report. Brazilian journal of anesthesiology (Elsevier). 2021; 71(2): 181-3.

Frank-ter Haar syndrome is a rare disorder characterized by multiple skeletal, cardiovascular abnormalities, and facial features. Some of these characteristic facial features are important for anesthesiologists to predict the difficult airway. We present the anesthesia management of an 8-year-old boy with Frank-ter Haar syndrome who underwent posterior spinal instrumentation operation for scoliosis. In these patients, it is vital to anticipate possible difficult intubation before surgery and make all necessary preparations.

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2. Cheng LL. The Many Facets of ASD in Children, Youth, and Young Adults. Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP). 2021; 73(3): 159-60.

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3. Cunningham KA, Edyburn KL, Lexcen F. Profiles of juveniles with sex offense charges referred for competence evaluations. Journal of forensic sciences. 2021; 66(5): 1829-40.

Juveniles referred for adjudicative competence evaluations make up a subset of youth involved in the juvenile justice system. Among those referred for adjudicative competence evaluations, a significant number involve youth with current or past charges for sexual offenses. This study examines the profiles of youth with sexual offense charges who have been referred for competence evaluations at a state psychiatric hospital for children and adolescents. Differences between the characteristics of youth with and without sexual offenses were explored, and predictors of competence opinions were examined among the subset of youth with current or prior sexual charges (juveniles with sexual offenses, or JSOs). Findings indicated that youth with sexual offenses have several demographic, cognitive, clinical, and legal differences from youth without sexual offenses. Although youth with sexual offenses were less likely to be opined competent, presence of a sexual offense was not a predictor of competence opinions after controlling for other factors. Predictors of competence among JSOs were found to be similar to those among youth referred for competence evaluations in general. Primary diagnosis of an autism-related disorder was a unique predictor of being opined not competent among the JSO subgroup, but not the overall sample. Implications for practice, policy, and research are discussed.

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4. Feng C, Chen Y, Zhang Y, Yan Y, Yang M, Gui H, Wang M. PTEN Regulates Mitochondrial Biogenesis via the AKT/GSK-3β/PGC-1α Pathway in Autism. Neuroscience. 2021; 465: 85-94.

Autism spectrum disorder (ASD) is a widespread, complex and serious neurodevelopmental disorder. Complex genetic and environmental factors are thought to contribute to the development of ASD. Genome-wide association analysis has identified multiple autism-related genes. Mutation of the phosphatase and tensin homolog (Pten) is closely related to autism and accounts for 5-17% of cases of autism. However, the detailed mechanism is still unclear. Recently, mitochondrial dysfunction was tightly associated with ASD pathogenesis, such as developmental degeneration, learning and various behavioral disorders. The mitochondrial DNA (mtDNA) copy number in children with autism is also significantly increased. The correlation between Pten and mitochondrial dysfunction in autism is still unknown. In this study, we examined how Pten regulates mitochondrial biogenesis through the AKT/GSK-3β/PGC-1α signaling pathways. We found that PTEN could dephosphorylate AKT to inhibit its activity, leading to decreased GSK3β phosphorylation. This decrease in GSK3β phosphorylation, which could activate itself, increased PGC-1α phosphorylation to promote its degradation and then regulated mitochondrial biogenesis by NRF-1 and TFAM downstream of PGC-1α. In the Valproic acid (VPA) induced autism mouse model, the PTEN protein level was significantly decreased while PGC-1α and COX IV levels were increased in the hippocampus and cortex. Our data suggest that there is a correlation between PTEN and mitochondrial dysfunction and this correlation may be a potential mechanism of ASD.

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5. George CM, Parvin T, Islam Bhuyian MS, Thomas ED, Monira S, Zohura F, Hasan MT, Perin J, Alam M, Tofail F. Child Mouthing of Soil and Contaminated Fomites and Unimproved Sanitation are Associated with Subsequent Poor Child Developmental Outcomes in Urban Bangladesh (CHoBI7 Program). The Journal of pediatrics. 2021; 235: 184-9.

OBJECTIVE: To evaluate the relationship between mouthing of soil and living in unsanitary conditions and child cognitive development in urban Bangladesh. STUDY DESIGN: This prospective cohort study of 224 children under 5 years of age was conducted in urban Dhaka, Bangladesh. Developmental outcomes were assessed by communication, fine motor, gross motor, personal social, problem solving, and combined developmental scores measured by the Extended Ages and Stages Questionnaire (EASQ) at a 12-month follow-up visit. RESULTS: Children who had caregiver reports of puting soil in their mouths at the majority of surveillance visits had significantly lower combined EASQ Z scores (coefficient, -0.53; 95% CI, -0.83 to -0.22) at the 12-month follow-up visit. Children who had caregiver reports of putting visibly dirty objects in their mouths at the majority of visits had significantly lower combined EASQ Z scores (-0.50; 95% CI, -0.79 to -0.22). Children in households with unimproved sanitation had significantly lower combined EASQ Z scores (-0.63; 95% CI, -1.11 to -0.16). CONCLUSIONS: Children found to frequently put soil and visibly dirty objects in their mouths, and those who resided in households using unimproved sanitation, had lower subsequent cognitive developmental outcomes. These findings demonstrate the importance of interventions targeting child mouthing behaviors and sanitation infrastructure to decrease exposure to fecal pathogens and improve child cognitive developmental outcomes.

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6. Han Y, Xiong W, Liu J, Dai W, Su Y, Gao L, Wang G, Li P, Zhang X. Associations of Serum Cytokine Levels and Interleukin-6-572C/G Polymorphism with Myelin Damage in Chinese Children with Autism Spectrum Disorder. Neuroscience. 2021; 465: 95-104.

Increasing evidence suggests that immunological disturbances and abnormalities in axonal myelination are involved in the pathophysiology of autism spectrum disorder (ASD). The present study aimed to determine the role of cytokines in myelin damage in Chinese children with ASD and the role of cytokine dysregulation, myelin damage, and cytokine polymorphisms in ASD in Chinese children. The present case-control study included 98 ASD subjects and 252 typically developing (TD) controls; the levels of serum cytokines and myelin basic protein (MBP) were determined using enzyme-linked immunosorbent assay. Cytokine polymorphisms were genotyped using polymerase chain reaction-restriction fragment length polymorphism analysis. Autistic clinical manifestations were assessed by the Childhood Autism Rating Scale (CARS). The results showed that serum levels of interleukin (IL)-1β, IL-2R, IL-6, IL-8, and MBP were higher in children with ASD compared with those in TD children. In individuals with ASD, serum MBP level was significantly positively associated with the CARS total score, and serum levels of IL-1β, IL-2R, IL-6, and MBP demonstrated positive correlations. The data identified IL-6*MBP as a factor that influenced the risk of ASD, and IL-2R*MBP was identified as a factor that influenced symptom severity, which influenced auxiliary diagnosis of ASD. The presence of the interleukin-6-572CC genotype was associated with significantly higher serum levels of IL-6 and MBP but did not influence the risk and symptom severity of ASD. Therefore, the results suggested inflammatory responses and myelin damage in Chinese children with ASD. Cytokine dysregulation influenced myelin damage in ASD; moreover, the interactions of the cytokines and myelin damage influenced the risk and symptom severity of ASD. The IL-6-572C/G genotypes may be associated with myelin damage in ASD by influencing the circulating level of IL-6.

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7. Nejati V, Moradkhani L, Suggate S, Jansen P. The impact of visual-spatial abilities on theory of mind in children and adolescents with autism spectrum disorder. Research in developmental disabilities. 2021; 114: 103960.

BACKGROUND: Children and adolescents with autism spectrum disorder (ASD) often experience impaired social cognition. AIMS: In the present study, we aimed to investigate the relation between visual-spatial abilities and theory of mind in children and adolescents with and without ASD. METHODS: Forty-five boys from the age of 7 to 17 years with ASD and thirty-one aged matched boys without ASD participated and completed the test of intrinsic stable visual-spatial ability (test of visual perceptual skill-revised), intrinsic dynamic visual-spatial ability (animal mental rotation test), and theory of mind test (TOMT). RESULTS: Results showed that relative to boys without ASD, boys with ASD had a lower performance in theory of mind and intrinsic visual-spatial abilities. Secondly, theory of mind correlated with visual-spatial abilities in boys with ASD. Theory of mind for first and second order beliefs was predicted by the intrinsic dynamic visual abilities, whereas the theory of mind ability of emotion recognition was predicted by visual-spatial static abilities. In children without ASD, theory of mind for emotion recognition was predicted by intrinsic visual-spatial ability and the theory of mind for first order beliefs. DISCUSSION: Theory of mind can be predicted by visual-spatial abilities in children and adolescents with ASD. Future studies should investigate the role of different types of intrinsic dynamic visual-spatial abilities (e.g., egocentric vs. object-based mental rotation tasks) in relation to different aspects of theory of mind in children and adolescents with autism.

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8. Ramirez MKC, Minor JM, Levin AV, Paysse EA, Wasserman BN. Persistent epithelial defect after photorefractive keratectomy in a patient with autism. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2021; 25(3): 187-90.

Refractive surgery has been performed under general anesthesia on pediatric and neurobehaviorally challenged adults without reported loss of vision or serious complications. Persistent epithelial defect (PED) is a rare complication of photorefractive keratectomy (PRK) in the general refractive surgery population. We report a case of PED following PRK under general anesthesia for high myopia in a man with autism and ocular history of juvenile open-angle glaucoma and dry eye syndrome.

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9. Usui N, Berto S, Konishi A, Kondo M, Konopka G, Matsuzaki H, Shimada S. Zbtb16 regulates social cognitive behaviors and neocortical development. Translational psychiatry. 2021; 11(1): 242.

Zinc finger and BTB domain containing 16 (ZBTB16) play the roles in the neural progenitor cell proliferation and neuronal differentiation during development, however, how the function of ZBTB16 is involved in brain function and behaviors unknown. Here we show the deletion of Zbtb16 in mice leads to social impairment, repetitive behaviors, risk-taking behaviors, and cognitive impairment. To elucidate the mechanism underlying the behavioral phenotypes, we conducted histological analyses and observed impairments in thinning of neocortical layer 6 (L6) and a reduction of TBR1+ neurons in Zbtb16 KO mice. Furthermore, we found increased dendritic spines and microglia, as well as developmental defects in oligodendrocytes and neocortical myelination in the prefrontal cortex (PFC) of Zbtb16 KO mice. Using genomics approaches, we identified the Zbtb16 transcriptome that includes genes involved in neocortical maturation such as neurogenesis and myelination, and both autism spectrum disorder (ASD) and schizophrenia (SCZ) pathobiology. Co-expression networks further identified Zbtb16-correlated modules that are unique to ASD or SCZ, respectively. Our study provides insight into the novel roles of ZBTB16 in behaviors and neocortical development related to the disorders.

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10. You QL, Luo ZC, Luo ZY, Kong Y, Li ZL, Yang JM, Li XW, Gao TM. Involvement of the thalamic reticular nucleus in prepulse inhibition of acoustic startle. Translational psychiatry. 2021; 11(1): 241.

Thalamic reticular nucleus (TRN) is a group of inhibitory neurons surrounding the thalamus. Due to its important role in sensory information processing, TRN is considered as the target nucleus for the pathophysiological investigation of schizophrenia and autism spectrum disorder (ASD). Prepulse inhibition (PPI) of acoustic startle response, a phenomenon that strong stimulus-induced startle reflex is reduced by a weaker prestimulus, is always found impaired in schizophrenia and ASD. But the role of TRN in PPI modulation remains unknown. Here, we report that parvalbumin-expressing (PV+) neurons in TRN are activated by sound stimulation of PPI paradigm. Chemogenetic inhibition of PV+ neurons in TRN impairs PPI performance. Further investigations on the mechanism suggest a model of burst-rebound burst firing in TRN-auditory thalamus (medial geniculate nucleus, MG) circuitry. The burst firing is mediated by T-type calcium channel in TRN, and rebound burst firing needs the participation of GABAB receptor in MG. Overall, these findings support the involvement of TRN in PPI modulation.

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11. Zamberletti E, Rubino T, Parolaro D. Therapeutic potential of cannabidivarin for epilepsy and autism spectrum disorder. Pharmacology & therapeutics. 2021; 226: 107878.

Recent years have seen a renewed interest on the possible therapeutic exploitations of specific cannabinoids derived from the Cannabis sativa plant. Thus far, the most studied non-psychotomimetic cannabinoid is cannabidiol (CBD), which has shown promising therapeutic potential for relieving a variety of neurological diseases. However, also its propyl analogue, cannabidivarin (CBDV), has recently gained much attention as a potential therapeutic agent for the management of disabling neurological conditions. This review aims at providing a comprehensive and updated overview of the available animal and human data, which have investigated the possible therapeutic potential of CBDV for the management of epilepsy and autism spectrum disorder.

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