1. Aslan C, Konuşkan B, Şener B, Ünal F. Comparison of serum anti-neuronal antibody levels in patients having autism spectrum disorder with and without regression. The Turkish journal of pediatrics. 2021; 63(5): 780-9.

BACKGROUND: Autism Spectrum Disorders (ASD) may present with a delay in social and communication development, or less frequently, with regression in social and language skills. The reasons for this difference in clinical presentation are unknown, and the regressive symptoms in the second group suggest an acquired process. METHODS: We investigated serum autoantibodies in these two types of ASD in a cross-sectional design in a total of 50 children, 24 with autistic regression and 26 with classical ASD according to the DSM-5 criteria. Clinical assessment by the Childhood Autism Rating Scale (CARS) and Ankara Developmental Screening Test (ADST), parental questionnaires consisting of the Aberrant Behavior Checklist (ABC) and Autism Behavior Checklist (AuBC) were completed. Serum samples were tested for anti-neuronal antibodies including anti-N-methyl-Daspartate receptor (NMDAR), anti-contactin-associated protein (CASPR2), anti-leucine rich glioma inactivated 1 (LG1), anti-glutamate type 2-amino-3-propionic Acid (AMPA) 1-2, anti-gamma amino butyric acid (GABA) B, anti-dipeptidyl aminopeptidase-like protein 6 (DPPX) and anti-glutamic acid decarboxylase 65(GAD). RESULTS: Serum anti-GAD antibodies were at detectable levels in five (20.8%) patients with autistic regression, of whom three had 2 to 4-fold increased titers, and in none of the patients with classical ASD. The age of the father at the patient`s birth and the duration of autistic regression correlated with anti-GAD IgG levels (P: 0,045, P: 0.855 respectively) in the ASD-regression group. No other antibodies were detected in either group. CONCLUSIONS: Our results do not suggest a causative role of anti-neuronal antibodies, but the possibility of an autoimmune process accompanying regressive symptoms in a small subgroup of ASD.

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2. Cao LL, Gaffney LK, Marcus C. Hypokalemia-Induced Rhabdomyolysis in a Child with Autism Affected by the COVID-19 Pandemic. Journal of developmental and behavioral pediatrics : JDBP. 2021.

OBJECTIVE: Pediatric patients with autism spectrum disorder (ASD) often have coexisting feeding disorders. We hope to emphasize the significant implications that these feeding disorders can have on this patient population through a unique case of hypokalemia-induced rhabdomyolysis. METHOD: We present a unique case of a 3-year-old boy with ASD and a longstanding history of food selectivity whose routine was disrupted during the COVID-19 pandemic resulting in avoidant/restrictive food intake disorder and severe undernutrition, who presented with profound hypokalemia and was subsequently found to have elevated muscle enzymes consistent with rhabdomyolysis despite only subtle complaints of difficulty walking. RESULTS: The patient was treated with aggressive hydration, electrolyte therapy, and nasogastric tube feeds, which resulted in clinical and biochemical evidence of improvement. He was also reconnected to ASD-related care services that had lapsed during the COVID-19 pandemic. CONCLUSION: This case exemplifies the adverse impact that feeding disorders can have on patients with ASD, particularly in the setting of stressors such as a global pandemic, and is also the first documented pediatric case of rhabdomyolysis secondary to hypokalemia from severe undernutrition. It demonstrates that physicians should have a low threshold to assess for clinical and laboratory evidence of rhabdomyolysis in patients with profound hypokalemia because symptoms of hypokalemia-induced rhabdomyolysis can often be subtle, which can delay diagnosis and thereby increase the risk for life-threatening complications from extensive muscle damage.

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3. Featherstone C, Sharpe RA, Axford N, Asthana S, Husk K. Health and wellbeing outcomes and social prescribing pathways in community-based support for autistic adults: A systematic mapping review of reviews. Health & social care in the community. 2022; 30(3): e621-e35.

Adults on the autism spectrum are affected by health disparities which significantly reduce life expectancy and experience barriers to accessing healthcare. Social prescribing is a holistic approach that diverts patients from primary care to health-enhancing activities in communities. However, there has been a lack of research attention to how autistic people navigate the social prescribing pathway and the ability of these approaches to address existing disparities. This mapping review aimed to synthesise features of non-medical, community-based interventions for autistic adults to assess their suitability for a social prescribing approach. A systematic search and screening process was used to identify literature reviews from medical databases (Embase, Medline, PsycINFO, CINAHL and Cochrane reviews) and grey literature. We extracted data from 24 reviews and 19 studies including types of services, participants, outcomes, settings and procedures. A narrative and visual synthesis is used to map the variety of services and interventions identified, the outcome measures used, and the barriers and facilitators to progression through services in relation to a realist social prescribing framework. The review found that there has been minimal evaluation of holistic, low intensity services for autistic adults, such as those offered in social prescribing approaches. Outcome measures remain focused on features of autism and reveal less about the effects of interventions on health and wellbeing. Aspects of the social prescribing model were identified in the features of service pathways, but findings also suggested how social prescribing could be adapted to improve accessibility for autistic people.

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4. Khodatars M, Shoeibi A, Sadeghi D, Ghaasemi N, Jafari M, Moridian P, Khadem A, Alizadehsani R, Zare A, Kong Y, Khosravi A, Nahavandi S, Hussain S, Acharya UR, Berk M. Deep learning for neuroimaging-based diagnosis and rehabilitation of Autism Spectrum Disorder: A review. Computers in biology and medicine. 2021; 139: 104949.

Accurate diagnosis of Autism Spectrum Disorder (ASD) followed by effective rehabilitation is essential for the management of this disorder. Artificial intelligence (AI) techniques can aid physicians to apply automatic diagnosis and rehabilitation procedures. AI techniques comprise traditional machine learning (ML) approaches and deep learning (DL) techniques. Conventional ML methods employ various feature extraction and classification techniques, but in DL, the process of feature extraction and classification is accomplished intelligently and integrally. DL methods for diagnosis of ASD have been focused on neuroimaging-based approaches. Neuroimaging techniques are non-invasive disease markers potentially useful for ASD diagnosis. Structural and functional neuroimaging techniques provide physicians substantial information about the structure (anatomy and structural connectivity) and function (activity and functional connectivity) of the brain. Due to the intricate structure and function of the brain, proposing optimum procedures for ASD diagnosis with neuroimaging data without exploiting powerful AI techniques like DL may be challenging. In this paper, studies conducted with the aid of DL networks to distinguish ASD are investigated. Rehabilitation tools provided for supporting ASD patients utilizing DL networks are also assessed. Finally, we will present important challenges in the automated detection and rehabilitation of ASD and propose some future works.

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5. Lacroix A, Nalborczyk L, Dutheil F, Kovarski K, Chokron S, Garrido M, Gomot M, Mermillod M. High spatial frequency filtered primes hastens happy faces categorization in autistic adults. Brain and cognition. 2021; 155: 105811.

Coarse information of a visual stimulus is conveyed by Low Spatial Frequencies (LSF) and is thought to be rapidly extracted to generate predictions. This may guide fast recognition with the subsequent integration of fine information, conveyed by High Spatial Frequencies (HSF). In autism, emotional face recognition is challenging, and might be related to alterations in LSF predictive processes. We analyzed the data of 27 autistic and 34 non autistic (NA) adults on an emotional Stroop task (i.e., emotional face with congruent or incongruent emotional word) with spatially filtered primes (HSF vs.LSF). We hypothesized that LSF primes would generate predictions leading to faster categorization of the target face compared to HSF primes, in the NA group but not in autism. Surprisingly, HSF primes led to faster categorization than LSF primes in both groups. Moreover, the advantage of HSF vs.LSF primes was stronger for angry than happy faces in NA, but was stronger for happy than angry faces in autistic participants. Drift diffusion modelling confirmed HSF advantage and showed a longer non-decision time (e.g., encoding) in autism. Despite LSF predictive impairments in autism was not corroborated, our analyses suggest low level processing specificities in autism.

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6. Li N, Chen H, Cheng Y, Xu F, Ruan G, Ying S, Tang W, Chen L, Chen M, Lv L, Ping Y, Chen D, Wei Y. Fecal Microbiota Transplantation Relieves Gastrointestinal and Autism Symptoms by Improving the Gut Microbiota in an Open-Label Study. Frontiers in cellular and infection microbiology. 2021; 11: 759435.

Autism spectrum disorder (ASD) is a severe brain development disorder that is characterized by deficits in social communication and restricted, repetitive and stereotyped behaviors. Accumulating evidence has suggested that gut microbiota disorders play important roles in gastrointestinal symptoms and neurodevelopmental dysfunction in ASD patients. Manipulation of the gut microbiota by fecal microbiota transplantation (FMT) was recently shown to be a promising therapy for the treatment of various diseases. Here, we performed a clinical trial to evaluate the effect of FMT on gastrointestinal (GI) and ASD symptoms and gut microbiota alterations in children with ASD. We found that there was a large difference in baseline characteristics of behavior, GI symptoms, and gut microbiota between children with ASD and typically developing (TD) control children. FMT could improve GI symptoms and ASD symptoms without inducing any severe complications. Similarly, FMT significantly changed the serum levels of neurotransmitters. We further observed that FMT could promote the colonization of donor microbes and shift the bacterial community of children with ASD toward that of TD controls. The abundance of Eubacterium coprostanoligenes pre-FMT was positively correlated with high GSRS scores, whereas a decrease in Eubacterium coprostanoligenes abundance induced by FMT was associated with the FMT response. Our data suggest that FMT might be a promising therapeutic strategy to improve the GI and behavioral symptoms of patients with ASD, possibly due to its ability to alter gut microbiota and highlight a specific microbiota intervention that targets Eubacterium coprostanoligenes that can enhance the FMT response. This trial was registered at the Chinese Clinical Trial Registry (www.chictr.org.cn) (trial registration number ChiCTR1800014745).

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7. Loo KK, Hutman T, Yang JH, McAdam DB, Nyp SS. Disorders, Disabilities, and Differences: Reconciling the Medical Model with a Neurodiversity Perspective. Journal of developmental and behavioral pediatrics : JDBP. 2021; 42(9): 763-6.

Zoe is a 25-month-old girl who presented to developmental-behavioral pediatrics with her parents for follow-up after receiving a diagnosis of autism spectrum disorder with global developmental delay and language impairment 3 months ago. Zoe was born by spontaneous vaginal delivery at term after an uncomplicated pregnancy, labor, and delivery. She had a routine newborn course and was discharged home with her parents 2 days after her birth.At 7 months, Zoe was not able to sit independently, had poor weight gain, and had hypertonia on physical examination. Her parents described her to tense her arms and have hand tremors when she held her bottle during feedings and reported that she had resisted their attempts to introduce pureed or other age-appropriate table foods into her diet. The Bayley Scales of Infant and Toddler Development Screening Test was administered and found a cognitive composite score of 70, language composite score of 65, and motor composite score of 67. Chromosomal microarray analysis, testing for fragile X syndrome, laboratory studies for metabolic disorders, magnetic resonance imaging of the brain, and an audiologic examination were normal. Zoe was referred to and received early intervention services including physical therapy, feeding therapy, and infant stimulation services. By 16 months, Zoe was walking independently and was gaining weight well but continued to have sensory aversions to some foods.At 22 months, Zoe was evaluated by a multidisciplinary team because of ongoing developmental concerns and concerning results on standardized screening for autism spectrum disorder completed at her 18-month preventive care visit. Her parents also reported concern about the possibility of autism spectrum disorder (ASD) because they both were diagnosed with ASD as young children. Both parents completed college and were employed full-time. Zoe’s mother seemed to be somewhat anxious during the visit and provided fleeting eye contact throughout the evaluation. Zoe’s father was assertive, but polite, and was the primary historian regarding parental concerns during the evaluation.Zoe was noted to have occasional hand flapping and squealing vocalizations while she roamed the examination area grabbing various objects and casting them to the floor while watching the trajectory of their movements. She did not use a single-finger point to indicate her wants or needs and did not initiate or follow joint attention. She met criteria for ASD. In discussing the diagnosis with Zoe’s parents, they shared that they were not surprised by the diagnosis. They expressed feeling that Zoe was social and playful, although delayed in her language. Hence, they were more concerned about her disinterest in eating. They were not keen on behavioral intervention because they did not want Zoe to be « trained to be neurotypical. » Although the mother did not receive applied behavior analysis (ABA), the father had received ABA for 3 years beginning at age 5 years. He believed that ABA negatively changed his personality, and he did not want the same for Zoe.How would you assist Zoe’s parents in identification of priorities for her developmental care while ensuring respect for their perspective of neurodiversity?

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8. Loureiro LO, Howe JL, Reuter MS, Iaboni A, Calli K, Roshandel D, Pritišanac I, Moses A, Forman-Kay JD, Trost B, Zarrei M, Rennie O, Lau LYS, Marshall CR, Srivastava S, Godlewski B, Buttermore ED, Sahin M, Hartley D, Frazier T, Vorstman J, Georgiades S, Lewis SME, Szatmari P, Bradley CAL, Tabet AC, Willems M, Lumbroso S, Piton A, Lespinasse J, Delorme R, Bourgeron T, Anagnostou E, Scherer SW. A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. NPJ genomic medicine. 2021; 6(1): 91.

Autism Spectrum Disorder (ASD) is genetically complex with ~100 copy number variants and genes involved. To try to establish more definitive genotype and phenotype correlations in ASD, we searched genome sequence data, and the literature, for recurrent predicted damaging sequence-level variants affecting single genes. We identified 18 individuals from 16 unrelated families carrying a heterozygous guanine duplication (c.3679dup; p.Ala1227Glyfs*69) occurring within a string of 8 guanines (genomic location [hg38]g.50,721,512dup) affecting SHANK3, a prototypical ASD gene (0.08% of ASD-affected individuals carried the predicted p.Ala1227Glyfs*69 frameshift variant). Most probands carried de novo mutations, but five individuals in three families inherited it through somatic mosaicism. We scrutinized the phenotype of p.Ala1227Glyfs*69 carriers, and while everyone (17/17) formally tested for ASD carried a diagnosis, there was the variable expression of core ASD features both within and between families. Defining such recurrent mutational mechanisms underlying an ASD outcome is important for genetic counseling and early intervention.

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9. Martínez-Cayuelas E, Rodríguez-Morilla B, Soriano-Guillén L, Merino-Andreu M, Moreno-Vinués B, Gavela-Pérez T. Sleep Problems and Circadian Functioning in Children and Adolescents With Autism Spectrum Disorder. Pediatric neurology. 2022; 126: 57-64.

BACKGROUND: Sleep problems are a prevalent comorbidity in autism spectrum disorder (ASD) with a multifactorial basis in which circadian misalignment has been described. METHODS: A cross-sectional study was conducted including 52 children and adolescents with ASD (9.85 ± 3.07) and 27 children and adolescent controls with normal intellectual functioning (8.81 ± 2.14). They were matched for age, sex, and body mass index, and all were drug-naïve. An ambulatory circadian monitoring device was used to record temperature and motor, body position, sleep, and light intensity. RESULTS: Individuals with ASD presented longer sleep-onset latency, lower sleep efficiency, and decreased total sleep time and tended to be more sedentary and have less exposure to light. They also showed lower amplitude, low interdaily stability, and a different pattern of wrist temperature across the day, with a midpoint of sleep that did not concur with sleep midpoint indicated by the rest of circadian parameters. CONCLUSIONS: The sleep problems observed in this sample resemble those reported previously, with the exception of nocturnal awakenings which did not show differences. The ambulatory circadian monitoring device enabled measurement of circadian parameters such as temperature which, until now, were scarcely described in children with ASD and could be used to better understand sleep and circadian system in ASD.

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10. Mathew R, Bryan J, Chaudhry D, Chaudhry A, Kuhn I, Tysome J, Donnelly N, Axon P, Bance M. Cochlear Implantation in Children with Autism Spectrum Disorder: A Systematic Review and Pooled Analysis. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 2022; 43(1): e1-e13.

OBJECTIVE: To determine outcomes following cochlear implantation (CI) in children with autism spectrum disorder (ASD). DATABASES REVIEWED: MEDLINE, Embase, Web of science, Cochrane Library, and Clinicaltrial.gov. METHODS: The review was performed according to the PRISMA statement. Primary outcomes measures were changes in speech perception and speech production scores. Secondary outcome measures included communication mode, device use, parental recommendation of implant, postoperative hyperacusis, and quality of life measures. Pooled analysis of outcomes was performed if possible. RESULTS: Twenty-four studies reported on 159 children with ASD. There were improvements in speech perception in 78% of cases and in speech expression in 63% of cases, though the extent of this improvement was variable. Seventy-four percent of children with ASD and CI are nonoral communicators. Intermittent/nonuse rate was 31%. Hearing outcomes are worse compared to children with other disabilities. The vast majority of parents would recommend CI based on their experiences. CONCLUSION: Outcome in children with ASD and CI are highly variable and significantly poorer compared to non-ASD children. Despite this, most parents report positive experiences and the evidence supports the use of CI in children with ASD.

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11. Reynolds JE, Whitehouse AJO, Alvares GA, Waddington H, Macaskill E, Licari MK. Characterising the Early Presentation of Motor Difficulties in Autistic Children. Journal of autism and developmental disorders. 2021.

This study aimed to explore the rates of motor difficulties in children from the Australian Autism Biobank, and how early motor concerns impacted on children functionally. Children with autism aged 2-7 years, including 441 with a Vineland Adaptive Behavior Scale (VABS-II) motor subscale and 385 with a Mullen Scales of Early Learning (MSEL) fine motor subscale were included (n total = 514; 80% male). Approximately 60% of children on the MSEL and ~ 25% on the VABS-II had clinically significant motor impairments. More children with delayed sitting and walking motor milestones had early childhood parent reported motor difficulties (p < 0.001). Early motor delays or concerns may assist identifying individuals who will likely benefit from early ongoing developmental monitoring and early support.

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12. Schmidt RJ. Gestational Vitamin D and Autism Spectrum Disorder. Biological psychiatry. 2021; 90(11): 738-41.

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13. Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD. Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome. Pediatric neurology. 2022; 126: 65-73.

BACKGROUND: Semaphorins and plexins are ligands and cell surface receptors that regulate multiple neurodevelopmental processes such as axonal growth and guidance. PLXNA3 is a plexin gene located on the X chromosome that encodes the most widely expressed plexin receptor in fetal brain, plexin-A3. Plexin-A3 knockout mice demonstrate its role in semaphorin signaling in vivo. The clinical manifestations of semaphorin/plexin neurodevelopmental disorders have been less widely explored. This study describes the neurological and neurodevelopmental phenotypes of boys with maternally inherited hemizygous PLXNA3 variants. METHODS: Data-sharing through GeneDx and GeneMatcher allowed identification of individuals with autism or intellectual disabilities (autism/ID) and hemizygous PLXNA3 variants in collaboration with their physicians and genetic counselors, who completed questionnaires about their patients. In silico analyses predicted pathogenicity for each PLXNA3 variant. RESULTS: We assessed 14 boys (mean age, 10.7 [range 2 to 25] years) with maternally inherited hemizygous PLXNA3 variants and autism/ID ranging from mild to severe. Other findings included fine motor dyspraxia (92%), attention-deficit/hyperactivity traits, and aggressive behaviors (63%). Six patients (43%) had seizures. Thirteen boys (93%) with PLXNA3 variants showed novel or very low allele frequencies and probable damaging/disease-causing pathogenicity in one or more predictors. We found a genotype-phenotype correlation between PLXNA3 cytoplasmic domain variants (exons 22 to 32) and more severe neurodevelopmental disorder phenotypes (P < 0.05). CONCLUSIONS: We report 14 boys with maternally inherited, hemizygous PLXNA3 variants and a range of neurodevelopmental disorders suggesting a novel X-linked intellectual disability syndrome. Greater understanding of PLXNA3 variant pathogenicity in humans will require additional clinical, computational, and experimental validation.

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14. Verma V, Kumar MJV, Sharma K, Rajaram S, Muddashetty R, Manjithaya R, Behnisch T, Clement JP. Pharmacological intervention in young adolescents rescues synaptic physiology and behavioural deficits in Syngap1(+/-) mice. Experimental brain research. 2022; 240(1): 289-309.

Haploinsufficiency in SYNGAP1 is implicated in intellectual disability (ID) and autism spectrum disorder (ASD) and affects the maturation of dendritic spines. The abnormal spine development has been suggested to cause a disbalance of excitatory and inhibitory (E/I) neurotransmission at distinct developmental periods. In addition, E/I imbalances in Syngap1(+/-) mice might be due to abnormalities in K(+)-Cl(-) co-transporter function (NKCC1, KCC2), in a maner similar to the murine models of Fragile-X and Rett syndromes. To study whether an altered intracellular chloride ion concentration represents an underlying mechanism of modified function of GABAergic synapses in Dentate Gyrus Granule Cells of Syngap1(+/-) recordings were performed at different developmental stages of the mice. We observed depolarised neurons at P14-15 as illustrated by decreased Cl(-) reversal potential in Syngap1(+/-) mice. The KCC2 expression was decreased compared to Wild-type (WT) mice at P14-15. The GSK-3β inhibitor, 6-bromoindirubin-3′-oxime (6BIO) that crosses the blood-brain barrier, was tested to restore the function of GABAergic synapses. We discovered that the intraperitoneal administration of 6BIO during the critical period or young adolescents [P30 to P80 (4-week to 10-week)] normalised an altered E/I balance, the deficits of synaptic plasticity, and behavioural performance like social novelty, anxiety, and memory of the Syngap1(+/-) mice. In summary, altered GABAergic function in Syngap1(+/-) mice is due to reduced KCC2 expression leading to an increase in the intracellular chloride concentration that can be counteracted by the 6BIO, which restored cognitive, emotional, and social symptoms by pharmacological intervention, particularly in adulthood.

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15. Watanabe T, Kondo M, Sakai M, Takabatake S, Furukawa TA, Akechi T. Association of Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder Traits with Depression and Empathy Among Medical Students. Advances in medical education and practice. 2021; 12: 1259-65.

PURPOSE: This study aimed to investigate the associations of the traits of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) with depression and empathy among medical students. PATIENTS AND METHODS: A cross-sectional survey was conducted with 202 fifth-year students at a Japanese medical school for 10 months during their clinical clerkship. The survey included sociodemographic questions and validated tools to measure depressive symptoms (Hospital Anxiety and Depression Scale [HADS]), medical students’ empathy for patients (Jefferson Scale of Empathy-Student version [JSE]), ADHD traits (ADHD Self-Report Scale Screener [ASRS Screener]), and ASD traits (Autism-Spectrum Quotient Japanese version-21 [AQ-J-21]). RESULTS: A total of 151 students (response rate: 74.7%) participated in the survey. Of these, 41 (27.2%) reported a total score of ≥ 20 on the HADS and were categorized as depressed. Depressed students reported significantly lower and higher rates of having a part-time job and a history of enrolment in other faculties, respectively, than non-depressed students. According to the cutoff criteria of the ASRS Screener and AQ-J-21, 31 (20.5%) and 42 (27.8%) students reported ADHD and ASD traits, respectively. Multivariate regression analysis, controlling for age and sex, reported that higher age, ASRS Screener scores, and AQ-J-21 scores were significant predictors of higher HADS total scores. Additionally, higher AQ-J-21 scores significantly predicted lower JSE scores. CONCLUSION: The degree of ADHD and ASD traits was significantly associated with depression. Moreover, the degree of ASD traits was significantly associated with lower empathy for their patients. It is important to consider that about 20-30% of medical students have these neurodevelopmental traits and to develop intervention strategies for improving depression and empathy.

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16. Yang JH, Strodl E, Wu CA, Yin XN, Wen GM, Sun DL, Xian DX, Chen JY, Chen YJ, Chen J, Chen WQ. Association between prenatal exposure to indoor air pollution and autistic-like behaviors among preschool children. Indoor air. 2022; 32(1): e12953.

Indoor air pollution is a recognized risk factor for a range of negative health outcomes. This study aimed to investigate the association between maternal prenatal exposure to indoor air pollution and the presence of autistic-like behaviors among preschool children. Data were obtained from the Longhua Child Cohort Study in 2017, in which we enrolled a total of 65 317 preschool children. Associations between maternal exposure to four sources of indoor air pollution (e.g., cooking, environmental tobacco smoke (ETS), mosquito coils, and home decoration) during pregnancy and preschool children’s autistic traits were analyzed using multivariate logistic regression. Our results showed that maternal exposure to indoor air pollution from four different sources during pregnancy was associated with the presence of children’s autistic-like behaviors. There was dose-response relationship between the accumulative exposure to the four different indoor air pollution sources and the risk of autistic-like behaviors. Furthermore, we found a significant additive interaction between prenatal exposure to both cooking and mosquito coil incense on the risk of autistic-like behaviors. Maternal prenatal exposure to the indoor air pollution from four sources might increase with the risk of autistic-like behaviors being present among preschool children, with an additive interaction effect between some pollution sources.

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17. Yoldaş T, Gürbüz BB, Akar HT, Özmert EN, Coşkun T. Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center. The Turkish journal of pediatrics. 2021; 63(5): 767-79.

BACKGROUND: There is increased awareness regarding the co-occurrence of autism spectrum disorder (ASD) and inherited metabolic disorders (IMD), and this is crucial for the management of both diagnoses in clinical practice. We aimed firstly to report twenty-two patients with a dual diagnosis of IMD and ASD who are still being followed up in the child metabolism outpatient clinic; secondly to evaluate the time of both IMD and ASD diagnosis and the clinical progress of their metabolic disorders to underline treatable conditions. METHODS: Among the patients admitted to the Pediatric Metabolism outpatient clinic because of IMD, twentytwo of them who had a diagnosis of ASD were included in the study. Data of the patients were collected from their medical records. The most recent progress of the patients concerning their metabolic disorder was obtained from the patients` files. RESULTS: Six cases with Phenylketonuria, 2 cases with partial Biotinidase Deficiency, 3 cases with Cerebral Creatine Deficiency Syndrome (CCDS), 5 cases with Mucopolysaccharidosis (MPS) Type-3b, 2 cases with MPS Type-3a, 1 case with MPS Type 4, 2 cases with Hypervalinemia and 1 case with Maple Syrup Urine Disease were all diagnosed as also having ASD. The diagnoses of CCDS and MPS Type 3 were after the diagnosis of ASD. Phenylketonuria and Mucopolysaccharidosis were the most common diagnoses in our study. In addition, rare entities such as MPS Type 3b and Type 4 and Hypervalinemia were also reported to co-occur with autism. CONCLUSIONS: Considering the co-occurrence of both disorders and implementing intervention strategies accordingly will certainly be beneficial in clinical practice and particularly in countries with a high rate of consanguinity.

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18. Zhang JY, Wu DW, Yang RL, Zhu L, Jiang MY, Wang WJ, Li XK, Jiang XL, Tong F, Shu Q. FMR1 allele frequencies in 51,000 newborns: a large-scale population study in China. World journal of pediatrics : WJP. 2021; 17(6): 653-8.

BACKGROUND: Fragile X syndrome (FXS), caused by CGG-repeat expansion in FMR1 promoter, is one of the most common causes of mental retardation. Individuals with full mutation and premutation alleles have a high risk of psychophysiological disorder and of having affected offspring. Frequencies of FMR1 alleles in general newborns have been reported in Caucasians but have not been investigated in the large-scale population in the mainland of China. METHODS: The sizes of FMR1 CGG-repeats were analyzed in 51,661 newborns (28,114 males and 23,547 females) and also in a cohort of 33 children diagnosed with developmental delay using GC-rich polymerase chain reaction (PCR) and triple repeat primed PCR. RESULTS: The frequency of CGG repeats > 100 was 1/9371 in males and 1/5887 in females, and the frequency of CGG repeats > 54 was 1/1561 in males and 1/1624 in females. FMR1 full mutation and premutation were identified in 27.27% of children who had Ages and Stages Questionnaire scores less than two standard deviations from the cutoff value. CONCLUSIONS: Our study revealed the prevalence of FXS in China and improved the sample databases of FXS, suggesting that the prevalence of FXS in Chinese is higher than estimated previously and that FXS screening can be advised to high-risk families.

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19. Ziermans T, Groenman A, Schalbroeck R. A Meta-Analysis of Autism and Clinical High-Risk for Psychosis is Too Premature. Comment on: Vaquerizo-Serrano, Salazar de Pablo, Singh & Santosh (2021). Journal of autism and developmental disorders. 2021.

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