1. Aishworiya R, Biag HMB, Salcedo-Arellano MJ, Musa Z, Schneider A, Clark C, Santos E, Tassone F, Hagerman R. Fragile X Syndrome and Fetal Alcohol Syndrome: Occurrence of Dual Diagnosis in a Set of Triplets. J Dev Behav Pediatr;2023 (Aug 8)

BACKGROUND: Fragile X syndrome (FXS) and fetal alcohol syndrome disorders are both common causes of intellectual disability in children. When both conditions are present in the same individual, the resultant phenotype may make identification of clinical issues and management challenging. CASE PRESENTATION: In this case report, we present a case of triplets who had significant in utero alcohol exposure; 2 of whom also have FXS and the other not having the fragile X mutation. The siblings with FXS have subtle differences in the physical phenotype compared with the other one, who has prominent features of partial fetal alcohol syndrome instead. However, all 3 siblings have intellectual impairment (although this is more severe in the 2 with FXS), meet diagnostic criteria for autism spectrum disorder, and present with severe behavioral challenges. The clinical presentation of the 2 siblings with FXS is much more severe as compared to a child with FXS alone, and this is likely due to the additive effect of in utero alcohol exposure and environmental factors. We discuss the combination of these 2 pathologies and how this can affect the overall clinical presentation. CONCLUSION: In the management of children with FXS, evaluation for other risk factors that can have neurobehavioral sequelae is important, and these can affect clinical presentation and prognosis.

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2. Ashby D, Yin L, Jones F, Wright AL, Williams H, Williams C, Deavenport-Saman A, Vanderbilt D, Solomon O. « She Is Stand-Offish Like That »: Black Adults’ Recognition of Child Behaviors Associated with Autism Spectrum Disorder. J Dev Behav Pediatr;2023 (Aug 8)

OBJECTIVE: The purpose of this study is to identify the sociocultural factors in the Black community that contribute to a delay in identification of Black children with autism spectrum disorder (ASD). METHODS: Four focus groups with parents of typically developing children were conducted at 2 Black Churches using a community-partnered participatory research approach and the socioecological model. Participants completed sociodemographic surveys, viewed CDC Autism Training Videos of Black children with ASD, and reported on their behavioral observations. Focus groups were audio recorded and transcribed. Thematic data analysis was conducted using NVivo software. RESULTS: At the individual level, participants interpreted ASD-associated behaviors as a problem of timing of developmental milestones in the course of normative development rather than a sign of a disorder and positive and negative characteristics. At the interpersonal level, the role of grandparents and extended family was important for monitoring child development. At the organizational level, racial concordance with health care providers was seen as critical because of historical mistrust. At the community level, fear of racism and child protective services and inequitable care emerged. At the policy level, there were concerns about access to affordable, high-quality care. CONCLUSION: This study provides insight into the sociocultural factors in the faith-based Black community that may contribute to a delay in identification of Black children with ASD. Health care professionals need additional training to effectively serve Black children and families in the face of historical mistrust and health care inequity.

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3. Cui M, Ni Q, Wang Q. Review of intervention methods for language and communication disorders in children with autism spectrum disorders. PeerJ;2023;11:e15735.

In recent years, the number of patients-particularly children-with autism spectrum disorder (ASD) has been continually increasing. ASD affects a child’s language communication and social interaction to a certain extent and has an impact on behavior, intelligence level, and other aspects of the child. Data indicates that 40% to 70% of children with ASD experience language developmental delays, which are mainly manifested as lack of language or language developmental delay, self-talk, use of stereotyped language, parroting, et cetera. A language communication disorder is a major symptom of ASD and is the most common reason for patients to visit a doctor. Therefore, language intervention training and communication skills have been made a cornerstone of autism intervention. However, a literature search has revealed that most studies only examine certain intervention methods or a combination of two or three intervention methods, which cannot be used by therapists or rehabilitation teachers. Therefore, this article summarizes relevant literature on language communication training for ASD children at home and abroad and briefly introduces the characteristics and training methods of language disorders in children with ASD in order to provide some ideas and references for relevant researchers and practitioners.

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4. Environmental, Public Health JO. Retracted: Influence of Family Sports Games on the Development of Early Communication Skills in Autistic Children. J Environ Public Health;2023;2023:9848545.

[This retracts the article DOI: 10.1155/2022/2621476.].

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5. Foster M, Federico A, Klaiman C, Bradshaw J. Early Sleep Differences in Young Infants with Autism Spectrum Disorder. J Dev Behav Pediatr;2023 (Aug 8)

OBJECTIVE: Children with autism spectrum disorder (ASD) experience greater sleep challenges than their neurotypical peers, but sleep patterns for infants later diagnosed with ASD are unknown. This study examined differences in total sleep duration and proportion of sleep experienced at night within the first 6 months of life among infants later diagnosed with ASD, infants who demonstrated subclinical characteristics of ASD and were classified as exhibiting the broad autism phenotype (BAP), and their typically developing (TD) peers. In addition, associations between infant sleep variables and developmental outcomes at 24 months were explored. METHODS: Participants included 79 infants enrolled in a prospective, longitudinal study of the early development of ASD. Between ages 1 week and 6 months, participants completed a monthly retrospective 24-hour sleep log. At 24 months, participants received a comprehensive diagnostic evaluation, including the Autism Diagnostic Observation Schedule-2 and Mullen Scales of Early Learning and Vineland-II and were clinically characterized as ASD, BAP, or TD. RESULTS: When accounting for the influence of age, infants later diagnosed with ASD slept less within the 24-hour period than infants in TD or BAP groups from 0 to 6 months (p = 0.04). Percentage of sleep experienced during nighttime hours did not significantly differ between groups from 0 to 6 months (p = 0.25). Greater nighttime sleep percentage at 6 months predicted higher receptive language (p < 0.001) and fine motor scores (p < 0.0001) at 24 months. Total sleep duration at 6 months did not predict any developmental outcomes at 24 months. CONCLUSION: Findings suggest that differences in sleep may occur among autistic individuals earlier in life than previously documented and have cascading effects on development.

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6. Hofvander B, Nilsson T, Ståhlberg O, Claesdotter E, Moberg P, Ahlbäck K, Hildebrand Karlén M. Autism Spectrum Disorders in forensic psychiatric investigations-patterns of comorbidity and criminality. Front Psychiatry;2023;14:1168572.

BACKGROUND: There are contradictory research findings regarding whether individuals with Autism Spectrum Disorders (ASDs) are more or less likely to commit crimes. The aims of the current study were to: (1) Describe psychiatric and crime-related characteristics of a large group of offenders with ASD who had undergone a Forensic Psychiatric Investigation (FPI). (2) Identify clinical subgroups among this group of offenders. (3) Investigate associations between the identified clinical subgroups and (a) psychiatric comorbidity (b) types of crimes and (c) criminal responsibility. METHODS: The study cohort consists of all subjects (n = 831) who received an ASD-diagnosis at an FPI between 2002 and 2018 in Sweden. Descriptive and clinical, as well as crime related variables were obtained from the FPIs. Non-parametric (Pearson χ(2), Fisher’s exact and Mann-Whitney U-test) inferential statistics were used for analyses of between-group differences and effect sizes were reported. A Latent Class Analysis was used to identify homogeneous subgroups (or classes) from categorical characteristics. RESULTS: The cohort consisted of 708 men and 123 women, aged 18 to 74 yrs. Two-thirds (66.7%) of the cohort had at least one other psychiatric diagnosis, the most prevalent was substance use disorder (SUD). A severe mental disorder, equivalent to lack of criminal responsibility, was most often reported among offenders with a comorbid diagnosis of schizophrenia spectrum disorder. The most common type of crime was violent crime. Three person-oriented clinical subgroups were identified; (1) ASD with few other diagnoses; (2) ASD and very high levels of SUDs, plus moderate levels of other externalizing disorders and psychotic psychopathology and (3) ASD and moderate to high levels of personality disorders (other than ASPD) and SUDs. CONCLUSION: Our results highlight the importance of all parts of the CJS to be prepared to handle offenders with ASD, often with high levels of additional psychiatric problems. Traditional approaches in treatment or other psychosocial interventions for ASD may need to be adapted to at least three general clinical profiles- one with mainly neurodevelopmental problems, one with a spectrum of externalizing problems and one with complex personality related difficulties.

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7. Jafri SK, Alam A, Raja H, Ali NG, Shaheen F, Ibrahim SH. Referral Profile of Developmental Disabilities at a Tertiary Care Hospital in a Resource-limited Country. J Coll Physicians Surg Pak;2023 (Aug);33(8):944-946.

The burden and the spectrum of neuro-developmental disabilities are well-established in the developed countries, however, they continue to be a challenge in the Low Middle-Income Countries. The aim of this study was to present the referral profile and trends of developmental disabilities in the child development centre of The Agha khan University, from 2012 to 2021. All children (1 month to 18 years), who had undergone diagnostic evaluations for suspected neurodevelopmental disabilities were included. A total of 1340 children were evaluated at the centre. The mean age of the children at the presentation was 5.4 ± 3.0 years. Male to female ratio was 3:1. Autism Spectrum Disorder (ASD) was the most common diagnosis (n=446, 33.3%). This study highlights a considerable burden and an increasing trend of children being referred for suspected developmental disabilities in Pakistan. Key Words: Developmental disabilities, Referral, Pakistan, Autism spectrum disorder.

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8. Kwak MJ, Kim SH, Kim HH, Tanpure R, Kim JI, Jeon BH, Park HK. Psychobiotics and fecal microbial transplantation for autism and attention-deficit/hyperactivity disorder: microbiome modulation and therapeutic mechanisms. Front Cell Infect Microbiol;2023;13:1238005.

Dysbiosis of the gut microbiome is thought to be the developmental origins of the host’s health and disease through the microbiota-gut-brain (MGB) axis: such as immune-mediated, metabolic, neurodegenerative, and neurodevelopmental diseases. Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are common neurodevelopmental disorders, and growing evidence indicates the contribution of the gut microbiome changes and imbalances to these conditions, pointing to the importance of considering the MGB axis in their treatment. This review summarizes the general knowledge of gut microbial colonization and development in early life and its role in the pathogenesis of ASD/ADHD, highlighting a promising therapeutic approach for ASD/ADHD through modulation of the gut microbiome using psychobiotics (probiotics that positively affect neurological function and can be applied for the treatment of psychiatric diseases) and fecal microbial transplantation (FMT).

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9. Liepinsh E, Svalbe B, Stelfa G, Grinberga S, Zvejniece L, Schiöth HB, Dambrova M. Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels. Mol Autism;2023 (Aug 8);14(1):29.

Deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene was identified in probands with autism spectrum disorder (ASD). TMLHE encodes the first enzyme in carnitine biosynthesis, N6-trimethyllysine dioxygenase (TMLD). Researchers have suggested that carnitine depletion could be important for the development of ASD and cognitive, locomotor and social dysfunctions, but previous findings have been inconclusive regarding the specific role of endogenous carnitine. We developed a mouse knockout model with constitutive TMLD enzyme inactivation that exhibited a significant decrease in the carnitine by more than 90% compared to wild-type (WT) mice. However, we did not observe any significant social, cognitive, or repetitive-behavior changes associated with ASD in the knockout mice; muscle strength and coordination were also not affected. In addition, the life expectancy of knockout mice was similar to that of WT mice. In conclusion, knockout of Tmlh in mice does not induce an ASD phenotype or motor dysfunction despite extremely low carnitine and gamma-butyrobetaine concentrations. Moreover, inactivation of TMLD does not induce a phenotype similar to previously described primary carnitine deficiency; indeed, our results showed that low levels of carnitine sustained adequate energy production, muscle function and social behavior in mice.

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10. Miller CJ, Golovina E, Wicker JS, Jacobsen JC, O’Sullivan JM. De novo network analysis reveals autism causal genes and developmental links to co-occurring traits. Life Sci Alliance;2023 (Oct);6(10)

Autism is a complex neurodevelopmental condition that manifests in various ways. Autism is often accompanied by other conditions, such as attention-deficit/hyperactivity disorder and schizophrenia, which can complicate diagnosis and management. Although research has investigated the role of specific genes in autism, their relationship with co-occurring traits is not fully understood. To address this, we conducted a two-sample Mendelian randomisation analysis and identified four genes located at the 17q21.31 locus that are putatively causal for autism in fetal cortical tissue (LINC02210, LRRC37A4P, RP11-259G18.1, and RP11-798G7.6). LINC02210 was also identified as putatively causal for autism in adult cortical tissue. By integrating data from expression quantitative trait loci, genes and protein interactions, we identified that the 17q21.31 locus contributes to the intersection between autism and other neurological traits in fetal cortical tissue. We also identified a distinct cluster of co-occurring traits, including cognition and worry, linked to the genetic loci at 3p21.1. Our findings provide insights into the relationship between autism and co-occurring traits, which could be used to develop predictive models for more accurate diagnosis and better clinical management.

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11. Neece CL, Fenning RM, Morrell HE, Benjamin LR. Comparative effects of mindfulness-based stress reduction and psychoeducational support on parenting stress in families of autistic preschoolers. Autism;2023 (Aug 9):13623613231191558.

Parents of autistic children often experience high levels of parenting stress, which can have negative mental and physical effects on both the parent and child. This study tested the efficacy of mindfulness-based stress reduction in reducing parenting stress in parents of preschool-aged autistic children compared to a psychoeducation and support intervention. We assessed parenting stress before and after the interventions and at 6- and 12-month follow-up. Both interventions significantly decreased parenting stress, but mindfulness-based stress reduction reduced stress more than did psychoeducation and support, with the strongest effect observed 1 year later. This suggests that the stress-reducing benefits of mindfulness-based stress reduction persist and may increase over time.

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12. Oluigbo DC. Rett Syndrome: A Tale of Altered Genetics, Synaptic Plasticity, and Neurodevelopmental Dynamics. Cureus;2023 (Jul);15(7):e41555.

Rett syndrome (RTT) is a neurodevelopmental disorder that is a leading cause of severe cognitive and physical impairment. RTT typically occurs in females, although rare cases of males with the disease exist. Its genetic cause, symptoms, and clinical progression timeline have also become well-documented since its initial discovery. However, a relatively late diagnosis and lack of an available cure signify that our understanding of the disease is incomplete. Innovative research methods and tools are thereby helping to fill gaps in our knowledge of RTT. Specifically, mouse models of RTT, video analysis, and retrospective parental analysis are well-established tools that provide valuable insights into RTT. Moreover, current and anticipated treatment options are improving the quality of life of the RTT patient population. Collectively, these developments are creating optimistic future perspectives for RTT.

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13. Orm S, Wood J, Corbett B, Fjermestad K. Suicidal Risk Behaviors in Adolescents With Rare Neurodevelopmental Disorders: The Role of Sex, Autistic Traits, and Mental Health Difficulties. J Pediatr Psychol;2023 (Aug 8)

OBJECTIVE: Autistic traits are associated with mental health difficulties and risk of suicidal risk behaviors among adolescents. Little is known about how autistic traits affect the mental health of adolescents with rare neurodevelopmental disorders (RNDs). The aim of this study was to investigate the relationship between autistic traits, mental health difficulties, and suicidal risk behaviors in adolescents with RNDs. METHODS: Parents (N = 93) completed the Child Behavior Checklist, Social Communication Questionnaire, and Social Responsiveness Scale about their adolescent (Mage = 13.1, SD = 2.3, 62.4% females) with an RND (e.g., sex chromosome aneuploidies, Fragile X syndrome, 22q11.2 deletion syndrome). The data were analyzed with hierarchical logistic regression analysis. RESULTS: The prevalence of suicidal risk behaviors (16.1%) was similar to that reported among autistic youth and was higher among boys than girls. More autistic traits were associated with suicidal risk behaviors in bivariate analysis. In multivariate analysis, more anxiety/depressive symptoms were associated with more suicidal risk behaviors and externalizing problems associated with suicidal risk behaviors beyond autistic traits and anxiety/depressive symptoms. CONCLUSION: Adolescents with RNDs are at risk of suicidal risk behaviors, especially those with higher levels of autistic traits, anxiety/depressive symptoms, and externalizing problems. Assessment of autistic traits, mental health difficulties, and suicide risk may be indicated for adolescents with RNDs to determine if corresponding intervention is needed.

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14. Perna J, Bellato A, Ganapathy PS, Solmi M, Zampieri A, Faraone SV, Cortese S. Correction: Association between autism spectrum disorder (ASD) and vision problems. A systematic review and meta-analysis. Mol Psychiatry;2023 (Aug 9)

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15. Seebeck J, Sznajder KK, Kjerulff KH. The association between prenatal psychosocial factors and autism spectrum disorder in offspring at 3 years: a prospective cohort study. Soc Psychiatry Psychiatr Epidemiol;2023 (Aug 9)

PURPOSE: Few studies of risk factors for autism spectrum disorder (ASD) have been prospective in design or investigated the role of psychosocial factors measured during pregnancy. We aimed to investigate associations between prenatal psychosocial factors and risk of ASD in offspring, as part of a multicenter prospective cohort study of more than 2000 mother-child pairs. METHODS: Nulliparous women aged 18-35 years, living in Pennsylvania, USA, were interviewed during pregnancy and multiple times postpartum over the course of a 3-year period. There were 2388 mothers who completed the Screen for Social Interaction Toddler Version (SSI-T), a measure of risk of ASD, when their child was 3-years old. Multivariable logistic regression models were used to investigate the associations between prenatal psychosocial factors-including total scores on three scales (social-support, stress and depression), trouble paying for basic needs, mental illness diagnosis and use of antidepressants-and risk of ASD in offspring at the age of 3-years, controlling for relevant confounding variables. RESULTS: There were 102 children (4.3%) who were scored as at-risk of ASD at 3-years. Prenatal psychosocial factors that were significantly associated with risk of ASD in the adjusted models were lower social-support (p < 0.001); stress (p = 0.003): depression (< 0.001), trouble paying for basic needs (p = 0.012), mental illness diagnosis (p = 0.016), and use of antidepressants (p < 0.001). CONCLUSION: These findings suggest that maternal experience of adverse psychosocial factors during pregnancy may be important intrauterine exposures related to the pathogenesis of ASD.

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16. Siddiqi UR, Begum S, Shahjadi S, Afroz S, Mahruba SN, Parvin J, Rahman MM. Plasma zinc, copper and serum ceruloplasmin levels of autism spectrum disorder children in Bangladesh. Heliyon;2023 (Aug);9(8):e18624.

Neural and cognitive processes require zinc and copper homeostasis and a normal zinc/copper ratio. Ceruloplasmin, an intrinsic antioxidant protein, maintains copper homeostasis, which might also influence autism spectrum disorder (ASD). ASD children are frequently reported with altered levels of these elements with wide geographical variations. This study evaluated any alteration in plasma zinc, copper, zinc/copper ratio and serum ceruloplasmin levels in Bangladeshi ASD children with respect to healthy controls. A cross-sectional study was conducted on 67 children aged 2 to 9 years of both sexes. Among them, 35 had ASD, while 32 were age, sex and body mass index (BMI) matched apparently healthy children. Plasma zinc and copper levels were estimated by the flame atomic absorption spectrophotometry method. Serum ceruloplasmin levels were estimated by the immunoturbidimetric method. Zinc and zinc/copper ratio in the 2-9 years old ASD children group were significantly lower (p=0.032 and p=0.002 respectively). On the other hand, copper (p=0.020) and ceruloplasmin (p = 0.045) levels were significantly higher than those of apparently healthy children. ASD was significantly associated with zinc deficiency (p=0.000) and copper toxicity (p=0.05). All children were again divided into 2-5 and 6-9 years age groups according to laboratory reference values for zinc and copper. Copper toxicity was significantly associated with ASD in the 2-5 years old age group (p=0.011), with a significant difference in plasma copper levels (p=0.009) and zinc/copper ratio (p=0.001) but not serum ceruloplasmin levels (p=0.110) compared to healthy controls. Serum ceruloplasmin was positively associated with plasma copper in ASD children of all age groups. This study shows that ASD in Bangladesh can be associated with low plasma zinc and high plasma copper and serum ceruloplasmin levels.

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17. Song W, Salzer MS, Kaplan K, Wong MY, Uppal D, Shea LL. Short Report on Effectiveness of an Autistic-Delivered Peer Support Program: Preliminary Results. Community Ment Health J;2023 (Aug 9)

There is little research on the effectiveness of autistic peer-delivered services. This study examines early outcomes associated with the Community Autism Peer Specialist program (CAPS), which was created in partnership with autistic individuals and is delivered by autistic adults who have received training in the delivery of peer support services to enhance the community functioning of autistic youth and adults. A single group pre-test/post-test design was used to examine early outcomes in the areas of independent living needs, social functioning, service engagement, and quality of life. A total of 23 individuals with autism aged 14-41 years were included in the study. Reductions were found in social functioning impairments and unmet needs after three months in the program. Participants also reported greater engagement in mental health services and activities that promote wellness compared with before the program. This study suggests that peer support services delivered by autistic peers may be an effective intervention approach for autistic youth and adults. Future studies with a more rigorous study design (e.g., randomized controlled trials), a larger sample size, and longer-term outcome measurements are needed to further investigate the effectiveness of CAPS and similar autistic-delivered services.

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18. Sysoeva O, Maximenko V, Kuc A, Voinova V, Martynova O, Hramov A. Abnormal spectral and scale-free properties of resting-state EEG in girls with Rett syndrome. Sci Rep;2023 (Aug 9);13(1):12932.

Spontaneous EEG contains important information about neuronal network properties that is valuable for understanding different neurological and psychiatric conditions. Rett syndrome (RTT) is a rare neurodevelopmental disorder, caused by mutation in the MECP2 gene. RTT is characterized by severe motor impairments that prevent adequate assessment of cognitive functions. Here we probe EEG parameters obtained in no visual input condition from a 28-channels system in 23 patients with Rett Syndrome and 38 their typically developing peers aged 3-17 years old. Confirming previous results, RTT showed a fronto-central theta power (4-6.25 Hz) increase that correlates with a progression of the disease. Alpha power (6.75-11.75 Hz) across multiple regions was, on the contrary, decreased in RTT, also corresponding to general background slowing reported previously. Among novel results we found an increase in gamma power (31-39.5 Hz) across frontal, central and temporal electrodes, suggesting elevated excitation/inhibition ratio. Long-range temporal correlation measured by detrended fluctuation analysis within 6-13 Hz was also increased, pointing to a more predictable oscillation pattern in RTT. Overall measured EEG parameters allow to differentiate groups with high accuracy, ROC AUC value of 0.92 ± 0.08, indicating clinical relevance.

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