1. Global, regional, and national burden of disorders affecting the nervous system, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021. Lancet Neurol. 2024; 23(4): 344-81.

BACKGROUND: Disorders affecting the nervous system are diverse and include neurodevelopmental disorders, late-life neurodegeneration, and newly emergent conditions, such as cognitive impairment following COVID-19. Previous publications from the Global Burden of Disease, Injuries, and Risk Factor Study estimated the burden of 15 neurological conditions in 2015 and 2016, but these analyses did not include neurodevelopmental disorders, as defined by the International Classification of Diseases (ICD)-11, or a subset of cases of congenital, neonatal, and infectious conditions that cause neurological damage. Here, we estimate nervous system health loss caused by 37 unique conditions and their associated risk factors globally, regionally, and nationally from 1990 to 2021. METHODS: We estimated mortality, prevalence, years lived with disability (YLDs), years of life lost (YLLs), and disability-adjusted life-years (DALYs), with corresponding 95% uncertainty intervals (UIs), by age and sex in 204 countries and territories, from 1990 to 2021. We included morbidity and deaths due to neurological conditions, for which health loss is directly due to damage to the CNS or peripheral nervous system. We also isolated neurological health loss from conditions for which nervous system morbidity is a consequence, but not the primary feature, including a subset of congenital conditions (ie, chromosomal anomalies and congenital birth defects), neonatal conditions (ie, jaundice, preterm birth, and sepsis), infectious diseases (ie, COVID-19, cystic echinococcosis, malaria, syphilis, and Zika virus disease), and diabetic neuropathy. By conducting a sequela-level analysis of the health outcomes for these conditions, only cases where nervous system damage occurred were included, and YLDs were recalculated to isolate the non-fatal burden directly attributable to nervous system health loss. A comorbidity correction was used to calculate total prevalence of all conditions that affect the nervous system combined. FINDINGS: Globally, the 37 conditions affecting the nervous system were collectively ranked as the leading group cause of DALYs in 2021 (443 million, 95% UI 378-521), affecting 3•40 billion (3•20-3•62) individuals (43•1%, 40•5-45•9 of the global population); global DALY counts attributed to these conditions increased by 18•2% (8•7-26•7) between 1990 and 2021. Age-standardised rates of deaths per 100 000 people attributed to these conditions decreased from 1990 to 2021 by 33•6% (27•6-38•8), and age-standardised rates of DALYs attributed to these conditions decreased by 27•0% (21•5-32•4). Age-standardised prevalence was almost stable, with a change of 1•5% (0•7-2•4). The ten conditions with the highest age-standardised DALYs in 2021 were stroke, neonatal encephalopathy, migraine, Alzheimer’s disease and other dementias, diabetic neuropathy, meningitis, epilepsy, neurological complications due to preterm birth, autism spectrum disorder, and nervous system cancer. INTERPRETATION: As the leading cause of overall disease burden in the world, with increasing global DALY counts, effective prevention, treatment, and rehabilitation strategies for disorders affecting the nervous system are needed. FUNDING: Bill & Melinda Gates Foundation.

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2. Online resources for Autism Acceptance Month. Nursing. 2024; 54(4): 63.

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3. AlAli FA, Drdir T, Yahya A, Al Amiri E. Variants of the GNAI1 gene manifest as Prader-Willi-like syndrome: Case report with literature review. Clin Dysmorphol. 2024; 33(2): 69-74.

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4. Allahdad M, Gluyas E, Spain D, Blainey S, Doswell S, Onyejiaka A. Implementing ‘Transforming Care’ – The first two years of a pilot service for autistic adults experiencing mental health crisis warranting psychiatric admission. Res Dev Disabil. 2024; 147: 104700.

BACKGROUND: Autistic adults are at increased risk of mental health difficulties; however Adult Mental Health Services (AMHS) often struggle to offer appropriate support to this group. Within England, Government initiatives, such as the ‘Transforming Care’ programme which included ‘Building the Right Support’ (NHS England, 2015) have promoted the need for AMHS to consider how they can better provide autism-informed support to autistic adults. AIMS/METHODS: Here, we describe the first two years of work of the Transforming Care in Autism (TCA) Team; a specialist service that supports autistic adults, without a moderate or severe intellectual disability or presenting significant risk to others, experiencing a mental health crisis. The service model is described, and descriptive data is presented over the two years of the service operation. RESULTS: Between February 2019 and February 2021, 110 referrals were received; 52 (47%) were accepted. Support offered to autistic adults included psychoeducation, psychological interventions, family-focused interventions, and consultation with professionals about specific individuals. Seventy autism training sessions were delivered to professionals working in medical health settings, AMHS, social care and residential services. CONCLUSIONS/IMPLICATIONS: Developing more autism-informed community and inpatient AMHS is vital for improving care. Further research about the experiences and needs of autistic adults using AMHS is needed, along with improved awareness of autism and provision of tailored intervention within these settings. LAY ABSTRACT: Autistic people have mental health problems more often than people who are not autistic. When autistic people need help from mental health services, often these services do not know how to help autistic people. The Government says mental health services must do more to help autistic people. In this paper we write about a new team, called the Transforming Care in Autism team. In its first two years the team was asked to help 110 people and worked with 52 of them. Help included talking to autistic people about how autism affects them and offering therapy. We also worked with families and professionals supporting autistic adults and offered 70 training sessions. More work is needed to make sure mental health services work well with autistic people. We also need to ask autistic people about their experiences of getting help from mental health services.

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5. Ames JL, Davignon MN, Hayes EA, Croen LA. Health Care for Autistic Children: A Public Health Perspective. Pediatr Clin North Am. 2024; 71(2): 111-25.

Autism has been the subject of large-scale public health investment. These investments are increasingly shifting toward mitigating the lifelong disability and impairment associated with autism. Key efforts include bolstering screening schedules, accelerating the path to diagnosis and early entry into evidence-based therapies, and providing preventive management of common co-occurring conditions. Enhancing their implementation will necessitate addressing neurodiversity and health equity. Pediatric primary care teams continue to be important stewards in population-level initiatives to promote autistic health. To thrive in this role, these providers will benefit from specific educational and logistical supports from the health care system.

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6. Amnuaylojaroen T, Parasin N, Saokaew S. Exploring the association between early-life air pollution exposure and autism spectrum disorders in children: A systematic review and meta-analysis. Reprod Toxicol. 2024; 125: 108582.

The objective of this meta-analysis is to investigate the association between air pollution and the vulnerability of children to autism spectrum disorders (ASD). A thorough examination and analysis of data obtained from a compilation of 14 studies was undertaken, with a particular emphasis on investigating the effects of nitrogen dioxide (NO(2)), oxide of nitrogen (NO(x)), ozone (O(3)), and particulate matter (PM(10) and PM(2.5)) on individuals diagnosed with ASD. The findings demonstrate a moderate association between exposure to nitrogen dioxide (NO(2)) and ASD, as indicated by a combined odds ratio (OR) of 1.13 and a 95% confidence interval (CI) spanning from 0.77 to 1.549. O(3) shows a combined odds ratio (OR) of 0.82, along with a 95% confidence interval (CI) ranging from 0.49 to 1.14. NO(x) shows a moderate level of heterogeneity (I² = 75.9%, p = 0.002), suggesting that the impact of NO(x) on the risk of ASD. There is a statistically significant relationship between exposure to O(3) and ASD, although the strength of this relationship is diminished. The findings demonstrated a noteworthy correlation between exposure to PM(10) and PM(2.5) and the occurrence of ASD. The study found a significant correlation, in relation to PM(2.5), with a combined odds ratio (OR) of 1.22 and a 95% confidence interval (CI) ranging from 1.11 to 1.34. The findings have significant implications for the formulation of programs aimed at reducing exposure to harmful chemicals, especially among vulnerable groups such as children.

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7. Anixt JS, Ehrhardt J, Duncan A. Evidence-Based Interventions in Autism. Pediatr Clin North Am. 2024; 71(2): 199-221.

Pediatricians have a critically important role in the care of children with autism, including conducting developmental screening to support early diagnosis and intervention, advising families about evidence-based treatments for autism spectrum disorder, and supporting families’ emotional health as they care for a child with a developmental disability. The purpose of this article is to provide pediatricians with information about evidence-based autism treatments and how to determine which interventions are appropriate for children across the autism spectrum at different ages and developmental stages.

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8. Bąbel P, Ostaszewski P. Between neurodiversity and therapy: the importance of making conscious and responsible choices in supporting individuals on the autism spectrum. Postep Psychiatr Neurol. 2023; 32(4): 175-80.

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9. Bettencourt C, Garret-Gloanec N, Pellerin H, Péré P, Bertamini G, Squillante M, Roos-Weil F, Ferrand L, Pernel AS, Apter G, Chetouani M, Cortese S, Cohen D. Promoting emotional and behavioral interventions in ASD treatment: Evidence from EPIGRAM, A naturalistic, prospective and longitudinal study. Res Dev Disabil. 2024; 147: 104688.

BACKGROUND: Prognostic factors from naturalistic treatment studies of children with Autism Spectrum Disorder (ASD) remain largely unknown. We aimed to identify baseline and treatment-related prognostic predictors at 1-year follow-up after Integrative Care Practices (ICPs). METHODS: Eighty-nine preschool children with severe ASD were given ICP combining nine therapeutic workshops based on children’s needs. Participants were assessed at baseline and during 12 months follow-up with the Psycho-educational Profile-3-R, Children Autism Rating Scale, Parental Global Impression, and the Autistic Behaviors Scale. We assessed prognostic predictors using multivariable regression models and explored treatment ingredients influencing outcome using Classification and Regression Trees (CART). RESULTS: Multivariable models showed that being a child from first generation immigrant parents predicted increased maladaptive behaviors, whereas play activities had an opposite effect; severity of ASD symptoms and impaired cognitive functions predicted worse autism severity at follow-up; and lower play activities predicted worse parent impression. Regarding treatment effects, more emotion/behavioral interventions predicted better outcomes, and more communication interventions predicted lower autism severity, whereas more education and cognitive interventions had an opposite effect. CART confirmed that more hours of intervention in the emotion/behavioral domain helped classifying cases with better outcomes. More parental support was associated with decreased maladaptive behaviors. Sensorimotor and education interventions also significantly contributed to classifying cases according to outcomes but defined subgroups with opposite prognosis. CONCLUSION: Children who exhibited the best prognosis following ICPs had less autism severity, better cognition, and non-immigrant parents at baseline. Emotion/behavior interventions appeared key across all outcomes and should be promoted.

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10. Bezgin G, Lewis JD, Fonov VS, Collins DL, Evans AC. Atypical co-development of the thalamus and cortex in autism: Evidence from age-related white-gray contrast change. Hum Brain Mapp. 2024; 45(5): e26584.

Recent studies have shown that white-gray contrast (WGC) of either cortical or subcortical gray matter provides for accurate predictions of age in typically developing (TD) children, and that, at least for the cortex, it changes differently with age in subjects with autism spectrum disorder (ASD) compared to their TD peers. Our previous study showed different patterns of contrast change between ASD and TD in sensorimotor and association cortices. While that study was confined to the cortex, we hypothesized that subcortical structures, particularly the thalamus, were involved in the observed cortical dichotomy between lower and higher processing. The current paper investigates that hypothesis using the WGC measures from the thalamus in addition to those from the cortex. We compared age-related WGC changes in the thalamus to those in the cortex. To capture the simultaneity of this change across the two structures, we devised a metric capturing the co-development of the thalamus and cortex (CoDevTC), proportional to the magnitude of cortical and thalamic age-related WGC change. We calculated this metric for each of the subjects in a large homogeneous sample taken from the Autism Brain Imaging Data Exchange (ABIDE) (N = 434). We used structural MRI data from the largest high-quality cross-sectional sample (NYU) as well as two other large high-quality sites, GU and OHSU, all three using Siemens 3T scanners. We observed that the co-development features in ASD and TD exhibit contrasting patterns; specifically, some higher-order thalamic nuclei, such as the lateral dorsal nucleus, exhibited reduction in codevelopment with most of the cortex in ASD compared to TD. Moreover, this difference in the CoDevTC pattern correlates with a number of behavioral measures across multiple cognitive and physiological domains. The results support previous notions of altered connectivity in autism, but add more specific evidence about the heterogeneity in thalamocortical development that elucidates the mechanisms underlying the clinical features of ASD.

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11. Bone ME, O’Connor Leppert ML. Autism Spectrum Disorder at Home and in School. Pediatr Clin North Am. 2024; 71(2): 223-39.

The diagnosis of autism spectrum disorder (ASD) brings a lifetime of considerations for individuals and their families. The core symptoms of ASD vary in severity and influence behavior and function across all environments. Co-occurring medical, mental health, cognitive, language, learning, and behavioral differences add challenges to those associated with core symptoms. Navigating the preschool, school, and transition ages in the educational setting requires continual reassessment of the strengths, weaknesses, and needs of the student to provide appropriate placement and services.

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12. Brown S, Rabenstein K, Doherty M. Autism and anaesthesia: a simple framework for everyday practice. BJA Educ. 2024; 24(4): 129-37.

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13. Capal JK, Jeste SS. Autism and Epilepsy. Pediatr Clin North Am. 2024; 71(2): 241-52.

Epilepsy is one of the most common comorbidities in individuals with autism spectrum disorders (ASDs). Risk factors include the presence of developmental delay/intellectual disability, female sex, age, and an underlying genetic condition. Due to higher prevalence of epilepsy in ASD, it is important to have a high index of suspicion for seizures and refer to a neurologist if there are concerns. Genetic testing is recommended for all children with ASD but it becomes more high yield in children with epilepsy and ASD.

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14. Carlson SR, Munandar V, Thompson JR. Outcomes for Adults With Intellectual and Developmental Disabilities Receiving Long-Term Services and Supports: A Systematic Review of the Literature. Intellect Dev Disabil. 2024; 62(2): 137-50.

The impact of long-term services and supports on the quality of life of adults with intellectual and developmental disabilities (IDD) is not well understood given the highly complex nature of researching this topic. To support future research addressing this topic, we conducted a systematic literature review of studies addressing outcomes of adults with IDD receiving long-term services and supports. Results of this review describe current outcomes for adults with IDD who receive long-term services and supports and can be used to inform program evaluation, policy development, and future research.

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15. Chen GT, Nair G, Osorio AJ, Holley SM, Ghassemzadeh K, Gonzalez J, Lu C, Sanjana NE, Cepeda C, Geschwind DH. Enhancer-targeted CRISPR-Activation Rescues Haploinsufficient Autism Susceptibility Genes. bioRxiv. 2024.

Autism Spectrum Disorder (ASD) is a highly heritable condition with diverse clinical presentations. Approximately 20% of ASD’s genetic susceptibility is imparted by de novo mutations of major effect, most of which cause haploinsufficiency. We mapped enhancers of two high confidence autism genes – CHD8 and SCN2A and used CRISPR-based gene activation (CRISPR-A) in hPSC-derived excitatory neurons and cerebral forebrain organoids to correct the effects of haploinsufficiency, taking advantage of the presence of a wildtype allele of each gene and endogenous gene regulation. We found that CRISPR-A induced a sustained increase in CHD8 and SCN2A expression in treated neurons and organoids, with rescue of gene expression levels and mutation-associated phenotypes, including gene expression and physiology. These data support gene activation via targeting enhancers of haploinsufficient genes, as a therapeutic intervention in ASD and other neurodevelopmental disorders.

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16. Cheng TL. Autism Today. Pediatr Clin North Am. 2024; 71(2): xv-xvi.

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17. Chung S, Choi A, Smith J, Wang Y, Shin R, Kim BW, Wiest A, Xi J, An I, Hong J, Antila H, Thomas S, Bhattarai J, Beier K, Ma M, Weber F. Circuit mechanism underlying fragmented sleep and memory deficits in 16p11.2 deletion mouse model of autism. Res Sq. 2024.

Sleep disturbances are prevalent in children with autism spectrum disorder (ASD) and have a major impact on the quality of life. Strikingly, sleep problems are positively correlated with the severity of ASD symptoms, such as memory impairment. However, the neural mechanisms underlying sleep disturbances and cognitive deficits in ASD are largely unexplored. Here, we show that non-rapid eye movement sleep (NREMs) is highly fragmented in the 16p11.2 deletion mouse model of ASD. The degree of sleep fragmentation is reflected in an increased number of calcium transients in the activity of locus coeruleus noradrenergic (LC-NE) neurons during NREMs. Exposure to a novel environment further exacerbates sleep disturbances in 16p11.2 deletion mice by fragmenting NREMs and decreasing rapid eye movement sleep (REMs). In contrast, optogenetic inhibition of LC-NE neurons and pharmacological blockade of noradrenergic transmission using clonidine reverse sleep fragmentation. Furthermore, inhibiting LC-NE neurons restores memory. Rabies-mediated unbiased screening of presynaptic neurons reveals altered connectivity of LC-NE neurons with sleep- and memory regulatory brain regions in 16p11.2 deletion mice. Our findings demonstrate that heightened activity of LC-NE neurons and altered brain-wide connectivity underlies sleep fragmentation in 16p11.2 deletion mice and identify a crucial role of the LC-NE system in regulating sleep stability and memory in ASD.

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18. Devroe S, Bleeser T, Lucas N. Decoding labour epidural analgesia and autism: Navigating the abyss between statistical significance, biological plausibility and clinical relevance. Eur J Anaesthesiol. 2024; 41(4): 257-9.

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19. Eigsti IM. The Autism Constellation and Neurodiversity: Long-Term and Adult Outcomes in Autism Spectrum Disorder. Pediatr Clin North Am. 2024; 71(2): 327-41.

Research on autistic adults suggests significant heterogeneity in outcomes. A significant proportion of individuals struggle with intellectual disability and limited communication skills. Of the 67% who have age-appropriate cognitive skills, around half are expected to attain a college education, and 25% are likely to hold a full-time job. Outcomes have been improving over time, in part because of earlier diagnosis and earlier intervention. Indeed, an estimated 10% to 20% are expected to lose all symptoms of autism by adolescence.

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20. Gao P, Zhou C, Ruan Z, Zhang Z, Fang X. Association between caregiver-child interaction and autistic-like behaviors at around three years of age. J Affect Disord. 2024.

BACKGROUND: The prevalence of autistic-like behaviors is increasing worldwide, both in developed and developing countries. With a high disease burden and complex developmental causes, there has been much interest in the etiology of the disease, and there is a lack of evidence on the relationship between caregiver-child interaction and autistic-like behaviors. AIM/OBJECTIVE: This study investigated the association between caregiver-child interaction and children’s autistic-like behaviors during early childhood. METHOD: The subjects of this study were 171 kindergartens selected from the Longhua Child Cohort Study (LCCS), and a total of 40,237 children around the age of three were included. Sociodemographic characteristics, family income, and frequency of interaction between caregivers and children were all filled in by the child’s primary caregiver, and the adapted Chinese Autism Behavior Checklist was used to assess children’s autism-like behaviors. Tobit Regression and ancovariance analysis (ANCOVA) were used to measure the relationship between caregiver-child interactions (family and social activities) and autism-like behaviors, with a two-tailed p value of <0.05 being significant. RESULTS: Tobit regression analyses found that in the 0-1 year age group, different frequencies of singing activities by caregivers with children (<3 times per week, 3-6 times per week, 6 times or more per week) were significantly negatively associated with autistic-like behaviors in a dose-response manner (B values of -0.323, -0.381, -0.544, all p < 0.0001); in the 1-3 year age group, different frequencies of reading interactions by caregivers with children (<3 times per week, 3-6 times per week, 6 times or more per week) were also significantly negatively associated with autistic-like behaviors in a dose-response manner (B values of -0.388, -0.632, -0.956, all p < 0.0001), and similar associations were found in singing and chatting interactions. CONCLUSIONS: Our findings suggest that higher frequencies of early caregiver-child interactions are associated with lower levers of autistic-like behaviors in children around the age of three years.

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21. Garg RK, Garg P, Sharma P, Kumar Y, Niwas R, Singh J, Singh S. Virtual autism among children: A leading hazard of gadget exposure and preventive measures. J Educ Health Promot. 2024; 13: 76.

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22. Gülcü Üstün NS. A pathogenic P4HTM gene variant in two brothers with autism spectrum disorder. Psychiatr Genet. 2024; 34(2): 68-9.

Autism spectrum disorder is a neurodevelopmental condition that involves limitations in social communication and various stereotypical repetitive behaviors. Genetic and environmental factors both play a role in the etiology. Numerous genetic syndromes accompanying autism spectrum disorders have been reported. Hypoventilation, hypotonia, intellectual disability, epilepsy, eye abnormality (HIDEA) syndrome is a rare genetic condition consisting of a combination of features such as hypoventilation, hypotonia, intellectual disability, eye abnormalities, and epilepsy. Very few cases of HIDEA syndrome have been reported in the literature to date. To the best of our knowledge, no cases of comorbid autism spectrum disorder and HIDEA syndrome have previously been reported. This report describes two brothers with a pathogenic P4HTM gene variant and autism spectrum disorder. One was diagnosed with HIDEA syndrome, while the other was a healthy carrier.

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23. Harris HK, Kook M, Boedeker P, Gusick AG, Lyons-Warren AM, Goin-Kochel RP, Murali C, Berry LN, Storch EA. The Impact of Cognitive Behavioral Therapy on Sleep Problems in Autistic Children with Co-occurring Anxiety. J Autism Dev Disord. 2024.

PURPOSE: This study seeks to examine the relationship between anxiety-symptom severity and sleep behaviors in autistic children receiving cognitive behavioral therapy (CBT). METHODS: We conducted a secondary-data analysis from a sample of 93 autistic youth, 4 to 14 years, participating in 24 weeks of CBT. Clinicians completed the Pediatric Anxiety Rating Scale (PARS) and parents completed the Children’s Sleep Habits Questionnaire, Abbreviated/Short Form (CSHQ-SF) at baseline, mid-treatment, post-treatment and 3 months post-treatment. Mediation analysis evaluated the role of anxiety symptoms in mediating the effect of time in treatment on sleep. RESULTS: There was a negative association between time in treatment and scores on the CSHQ-SF (b = – 3.23, SE = 0.493, t = – 6.553, p < 0.001). Increased time in treatment was associated with decreased anxiety (b = - 4.66, SE = 0.405, t = - 11.507, p < 0.001), and anxiety symptoms decreased with CSHQ-SF scores (b = 0.322, SE = 0.112, t = 2.869, p = 0.005). The indirect effect of time in treatment on CSHQ-SF scores through PARS reduction was negative, but not statistically significant. CONCLUSION: Increased time in CBT was associated with decreased anxiety severity and improved sleep behaviors. Reductions in anxiety symptoms may mediate improvements in sleep problems, but larger sample sizes are necessary to explore this further.

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24. Heo MQ, English MCW, Maybery MT, Visser TAW. Visuospatial cueing differences as a function of autistic traits. Atten Percept Psychophys. 2024.

Atypical orienting of visuospatial attention in autistic individuals or individuals with a high level of autistic-like traits (ALTs) has been well documented and viewed as a core feature underlying the development of autism. However, there has been limited testing of three alternative theoretical positions advanced to explain atypical orienting – difficulty in disengagement, cue indifference, and delay in orienting. Moreover, research commonly has not separated facilitation (reaction time difference between neutral and valid cues) and cost effects (reaction time difference between invalid and neutral cues) in orienting tasks. We addressed these limitations in two experiments that compared groups selected for Low- and High-ALT levels on exogenous and endogenous versions of the Posner cueing paradigm. Experiment 1 showed that High-ALT participants exhibited a significantly reduced cost effect compared to Low-ALT participants in the endogenous cueing task, although the overall orienting effect remained small. In Experiment 2, we increased task difficulty of the endogenous task to augment cueing effects. Results were comparable to Experiment 1 regarding the finding of a reduced cost effect for High-ALT participants on the endogenous cueing task and additionally demonstrated a reduced facilitation effect in High-ALT participants on the same task. No ALT group differences were observed on an exogenous cueing task included in Experiment 2. These findings suggest atypical orienting in High-ALT individuals may be attributable to general cue indifference, which implicates differences in top-down attentional processes between Low- and High-ALT individuals. We discuss how indifference to endogenous cues may contribute to social cognitive differences in autism.

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25. Hughes MM, Pas ET, Durkin MS, DaWalt LS, Bilder DA, Bakian AV, Amoakohene E, Shaw KA, Patrick ME, Salinas A, DiRienzo M, Lopez M, Williams S, McArthur D, Hudson A, Ladd-Acosta CM, Schwenk YD, Baroud TM, Robinson Williams A, Washington A, Maenner MJ. Health Conditions, Education Services, and Transition Planning for Adolescents With Autism. Pediatrics. 2024; 153(4).

OBJECTIVE: Our objectives with this study were to describe the frequency of selected cooccurring health conditions and individualized education program (IEP) services and post-high school transition planning for adolescents with autism spectrum disorder and identify disparities by sex, intellectual ability, race or ethnicity, and geographic area. METHODS: The study sample included 1787 adolescents born in 2004 who were identified as having autism through a health and education record review through age 16 years in 2020. These adolescents were part of a longitudinal population-based surveillance birth cohort from the Autism and Developmental Disabilities Monitoring Network from 2004 to 2020 in 5 US catchment areas. RESULTS: Attention deficit hyperactivity disorder (47%) and anxiety (39%) were the most common cooccurring health conditions. Anxiety was less commonly identified for those with intellectual disability than those without. It was also less commonly identified among Black adolescents compared with White or Hispanic adolescents. There was wide variation across Autism and Developmental Disabilities Monitoring Network sites in the provision of school-based IEP services. Students with intellectual disability were less likely to receive school-based mental health services and more likely to have a goal for postsecondary independent living skills compared with those without intellectual disability. A total of 37% of students did not participate in standardized testing. CONCLUSIONS: We identified disparities in the identification of cooccurring conditions and school-based IEP services, practices, and transition planning. Working with pediatric health and education providers, families, and adolescents with autism will be important to identify contributing factors and to focus efforts to reduce disparities in the supports and services adolescents with autism have access to and receive.

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26. Lazar SM, Challman TD, Myers SM. Etiologic Evaluation of Children with Autism Spectrum Disorder. Pediatr Clin North Am. 2024; 71(2): 179-97.

Autism spectrum disorder (ASD) is clinically and etiologically heterogeneous. A causal genetic variant can be identified in approximately 20% to 25% of affected individuals with current clinical genetic testing, and all patients with an ASD diagnosis should be offered genetic etiologic evaluation. We suggest that exome sequencing with copy number variant coverage should be the first-line etiologic evaluation for ASD. Neuroimaging, neurophysiologic, metabolic, and other biochemical evaluations can provide insight into the pathophysiology of ASD but should be recommended in the appropriate clinical circumstances.

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27. Li K, Liang X, Liu X, Geng Y, Yan J, Tian L, Liu H, Lai W, Shi Y, Xi Z, Lin B. Early-life exposure to PM2.5 leads to ASD-like phenotype in male offspring rats through activation of PI3K-AKT signaling pathway. Ecotoxicol Environ Saf. 2024; 274: 116222.

Previous studies have shown that early-life exposure to fine particulate matter (PM2.5) is associated with an increasing risk of autism spectrum disorder (ASD), however, the specific sensitive period of ASD is unknown. Here, a model of dynamic whole-body concentrated PM2.5 exposure in pre- and early-postnatal male offspring rats (MORs) was established. And we found that early postnatal PM2.5 exposed rats showed more typical ASD behavioral characteristics than maternal pregnancy exposure rats, including poor social interaction, novelty avoidance and anxiety disorder. And more severe oxidative stress and inflammatory responses were observed in early postnatal PM2.5 exposed rats. Moreover, the expression level of phosphatase and tensin homolog deleted on chromosome ten (PTEN) was down-regulated and the ratios of p-PI3K/PI3K and p-AKT/AKT were up-regulated in early postnatal PM2.5 exposed rats. This study suggests that early postnatal exposure to PM2.5 is more susceptible to ASD-like phenotype in offspring than maternal pregnancy exposure and the activation of PI3K-AKT signaling pathway may represent underlying mechanisms.

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28. Liang X, Haegele JA, Tse AC, Li M, Zhang H, Zhao S, Li SX. The impact of the physical activity intervention on sleep in children and adolescents with autism spectrum disorder: A systematic review and meta-analysis. Sleep Med Rev. 2024; 74: 101913.

Pharmacological treatments (i.e., melatonin) and non-pharmacological therapies (e.g., parent-based sleep education programs and behavioural interventions) have been found to result in improved sleep in children and adolescents with autism spectrum disorder (ASD). However, there are several limitations to these treatment approaches, including concerns about the possible side-effects and safety, high-cost and uncertainties of long-term effects. Physical activity (PA) intervention is a promising behavioural intervention that has received increasing attention. However, the effects of PA intervention on sleep are still unclear in this clinical group. This study aimed to synthesize available empirical studies concerning the effects of PA interventions on sleep in children and adolescents with ASD. Following PRISMA guidelines, seven electronic databases: APA PsychInfo, CINAHL Ultimate, ERIC, MEDLINE, PubMed, SPORTDiscus, and Web of Science, were searched from inception to March 2023. Randomized controlled trials/quasi-experimental designs with comparison groups were included. Initially, 444 articles were identified, 13 articles underwent systematic review, and 8 studies with control groups and sufficient statistical data were selected for meta-analysis. Compared to no-treatment control groups, PA interventions had a large positive effect on parent-reported general sleep problems, night awakenings, sleep resistance, sleep duration and actigraphy-assessed sleep efficiency in children and adolescents with ASD.

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29. Lipkin PH, Ewen JB. Pediatric Management of Autism. Pediatr Clin North Am. 2024; 71(2): xvii-xix.

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30. Milton DE, Green J. Theorising autism. Autism. 2024; 28(4): 795-7.

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31. Murdy A. Autism like jazz. Lancet Child Adolesc Health. 2024; 8(4): 256.

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32. Niimi T, Inaba Y, Honda H. Developmental changes in prefrontal cortex activation in children with or without autism spectrum traits on near-infrared spectroscopy. Brain Dev. 2024.

BACKGROUND: Autism spectrum disorder (ASD) ranges from mild to severe symptoms, with autistic traits possibly distributed throughout the population. However, the precise neurodevelopmental differences in children with autistic traits remain unknown. SUBJECTS AND METHODS: Fifty-three healthy volunteers (32 male and 21 female, mean [standard deviation] age: 12.9 [2.5] years) having a normal intelligence quotient and without social impairment were divided into two groups according to scores of the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS). Subjects with or without autistic traits were placed into the high-PARS (n = 14) or low-PARS (n = 39) group, respectively. Activation of the prefrontal cortex was estimated using change in hemoglobin oxygenation concentration (Δ[oxy-Hb]) on near-infrared spectroscopy (NIRS) during a verbal fluency test. Age-related changes in prefrontal cortex activation were first assessed for each group. Then, the effects of age (elementary school age or junior/senior high school age) and PARS score on Δ[oxy-Hb] in the task were analyzed by two-way analysis of variance. RESULTS: We observed significant positive correlations between mean Δ[oxy-Hb] and age in the prefrontal cortex region in the low-PARS group. Mean Δ[oxy-Hb] in the low-PARS group was significantly higher than in the high-PARS group. Task performance results were comparable between the groups. CONCLUSION: In PARS-determined typically developed children, prefrontal cortex activation on NIRS correlated positively with age. In healthy volunteers without ASD but harboring autistic traits, prefrontal cortex activation was markedly lower than in normal counterparts. Our results provide biological evidence that ASD may be a pervasively distributed disorder.

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33. Olson L, Bishop S, Thurm A. Differential Diagnosis of Autism and Other Neurodevelopmental Disorders. Pediatr Clin North Am. 2024; 71(2): 157-77.

This article discusses the diagnostic criteria for autism spectrum disorder (ASD), as well as other neurodevelopmental disorders that may be confused with or co-occur with ASD. Practitioners involved in diagnostic assessment of ASD must be well versed in the features that differentiate ASD from other conditions and be familiar with how co-occurring conditions may manifest in the context of ASD. ASD symptoms present differently across development, underscoring the need for training about typical developmental expectations for youth. Periodic reevaluations throughout development are also important because support needs for individuals with autism change over time.

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34. Rhaman N, P AR. Occupational therapy interventions in promoting social communication skills among children with autism spectrum disorder: A scoping review. Med J Malaysia. 2024; 79(Suppl 1): 187-96.

INTRODUCTION: Children with Autism Spectrum Disorder (ASD) often face significant challenges in verbal communication, social interaction, and exhibit repetitive behavioral patterns. These challenges persist across various developmental stages, particularly impacting their social communication abilities. This scoping review aims to explore the range of occupational therapy interventions that are employed to enhance social communication skills in children with ASD. MATERIALS AND METHODS: A literature search was conducted independently on scientific databases: Scopus, Google Scholar, Science Direct, and Web of Science (WOS). The process was carried out according to the PRISMA guidelines. RESULT: Of the 195 studies identified, 8 articles involving 185 participants, aged 17 months to 12 years old, across six countries met the inclusion criteria. The majority of studies indicate significant improvement in social communication abilities, while one study demonstrates insignificant results and another study presents mixed outcomes, utilising two different assessment tools. CONCLUSION: Occupational therapy has showed promise in improving social communication in children with ASD. Nonetheless, this review emphasises the need for greater indepth study and long-term evaluation to better explain and sustain these benefits. More research is needed to develop OT interventions that are both effective and evidence-based.

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35. Robles M, Ramos-Grille I, Hervás A, Duran-Tauleria E, Galiano-Landeira J, Wormwood JB, Falter-Wagner CM, Chanes L. Reduced stereotypicality and spared use of facial expression predictions for social evaluation in autism. Int J Clin Health Psychol. 2024; 24(2): 100440.

BACKGROUND/OBJECTIVE: Autism has been investigated through traditional emotion recognition paradigms, merely investigating accuracy, thereby constraining how potential differences across autistic and control individuals may be observed, identified, and described. Moreover, the use of emotional facial expression information for social functioning in autism is of relevance to provide a deeper understanding of the condition. METHOD: Adult autistic individuals (n = 34) and adult control individuals (n = 34) were assessed with a social perception behavioral paradigm exploring facial expression predictions and their impact on social evaluation. RESULTS: Autistic individuals held less stereotypical predictions than controls. Importantly, despite such differences in predictions, the use of such predictions for social evaluation did not differ significantly between groups, as autistic individuals relied on their predictions to evaluate others to the same extent as controls. CONCLUSIONS: These results help to understand how autistic individuals perceive social stimuli and evaluate others, revealing a deviation from stereotypicality beyond which social evaluation strategies may be intact.

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36. Rybczynski S. Mortality and Autism: Suicide and Elopement. Pediatr Clin North Am. 2024; 71(2): 343-51.

Autistic children and youth are at risk for premature mortality. Two preventable causes of that increased risk are elopement and suicide. Pediatricians should educate themselves and caregivers about strategies that could prevent tragic situations involving autistic youth.

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37. Sakamoto N, Oe M, Ozone M. An Exploratory Study of the Associations Between Sensory Processing Patterns and Emotional/Behavioral Problems in Children with Autism Spectrum Disorder. Kurume Med J. 2024.

AIM: In autism spectrum disorder (ASD), abnormal sensory processing patterns are observed in various sensory modalities, including visual, auditory, touch, olfactory, taste, vestibular, and proprioceptive senses. Few studies have examined the relationship between sensory processing patterns and emotions, or their effects on daily life. We investigated the relationship between sensory processing patterns and emotional/behavioral problems in children with ASD. PARTICIPANTS AND METHODS: A retrospective chart review was conducted. Forty-three children with ASD (33 boys, 10 girls, median age 9 years) in the outpatient clinic of a psychiatric hospital participated; their parent (s) were invited to complete the Sensory Profile 2 (SP2) and the Child Behavior Checklist (CBCL) questionnaires. The participants’ teachers were invited to complete the Teacher’s Report Form (TRF). RESULTS: In the correlation analyses, each of the four quadrants of the SP2 (low registration, sensory seeking, hypersensitivity, and sensory avoiding) had significant positive correlations with different types of emotional and behavioral problems measured by the CBCL. Focusing on emotion, ‘anxious/depressed’ was correlated with low registration (r = 0.41) and sensory avoiding (r = 0.60), while ‘withdrawal/depressed’ was correlated with sensory avoiding (r = 0.46). Only one significant correlation was revealed between the SP2 and the TRF. CONCLUSION: Our results suggest a link between sensory processing patterns and emotional/behavioral problems. In school settings, the relationship between sensory processing patterns and emotional/behavioral problems may be easily overlooked.

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38. Salami S, Alhalal E. Gender differences in predictors of quality of life for parents of children with Autism Spectrum disorder in Saudi Arabia. J Pediatr Nurs. 2024.

PURPOSE: Few researchers have examined gender differences in the quality of life (QoL) of parents of children with autism spectrum disorder (ASD) in diverse cultural contexts. The purpose of this study was to identify how ASD severity, affiliate stigma, perceived social support, family functioning, and coping strategies differentially predict the QoL of mothers and fathers of children with ASD in Saudi Arabia. DESIGN AND METHODS: Based on a cross-sectional research design, data were gathered between April and July 2023 from a convenience sample of 376 parents (220 mothers and 156 fathers) of children with ASD in Saudi Arabia. Welch’s t-test and regression were used to achieve the study purpose. RESULTS: Mothers of children with ASD reported lower QoL, perceived social support, and family functioning than fathers. Mothers relied on emotion-focused coping strategies, whereas fathers used problem-focused coping strategies. Furthermore, affiliate stigma, perceived social support, and family functioning significantly predicted the QoL of mothers and fathers of children with ASD. However, the severity of ASD affected only the QoL of the mothers. Problem-focused coping significantly predicted fathers’ QoL but not mothers’ QoL. CONCLUSIONS: The results highlight gender differences in the factors that predict the QoL of parents of children with ASD in Saudi Arabia. PRACTICE IMPLICATIONS: Healthcare professionals should consider parents’ gender when providing support and interventions to improve parental QoL.

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39. Salari Z, Moslemizadeh A, Tezerji SS, Sabet N, Parizi AS, Khaksari M, Sheibani V, Jafari E, Shafieipour S, Bashiri H. Sex-dependent alterations of inflammatory factors, oxidative stress, and histopathology of the brain-gut axis in a VPA-induced autistic-like model of rats. Birth Defects Res. 2024; 116(4): e2310.

INTRODUCTION: In this study, we aimed to investigate the inflammatory factors, oxidative stress, and histopathological consequences of the brain-gut axis in male and female rats prenatally exposed to VPA. METHODS: Pregnant Wistar rats were randomly divided into two groups. The animals received saline, and valproic acid (VPA) (600 mg/kg, i.p.) on embryonic day 12.5 (E12.5). All offspring were weaned on postnatal day 21, and the experiments were done in male and female rats on day 60. The brain and intestine tissues were extracted to assess histopathology, inflammation, and oxidative stress. RESULTS: An increase of interleukin-1β (IL-1β) and interleukin-6 (IL-6) and a decrease of interleukin-10 (IL-10) were observed in the two sexes and two tissues of the autistic rats. In the VPA-exposed animals, malondialdehyde (MDA) and protein carbonyl (PC) increased in the brain of both sexes and the intestines of only the males. The total antioxidant capacity (TAC), superoxide dismutase (SOD), and catalase (CAT) significantly decreased in both tissues of male and female autistic groups. Histopathological evaluation showed that the %apoptosis of the cortex in the autistic male and female groups was more than in controls whereas this parameter in the CA1 and CA3 was significant only in the male rats. In the intestine, histopathologic changes were seen only in the male autistic animals. CONCLUSION: The inflammatory and antioxidant factors were in line in the brain-gut axis in male and female rats prenatally exposed to VPA. Histopathological consequences were more significant in the VPA-exposed male animals.

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40. Salpekar JA, Scahill L. Psychopharmacology Management in Autism Spectrum Disorder. Pediatr Clin North Am. 2024; 71(2): 283-99.

Persons with autism spectrum disorder (ASD) may have other psychiatric conditions that warrant treatment. Symptoms may not be easy to discern from rigidity or irritability that are sometimes considered to be constituent parts of ASD. Pathophysiology that involves hyperexcitable neurons and anomalous connectivity may provide justification for using psychopharmacologic agents, although nonmedical strategies may also be effective. Hyperactivity, irritability, and tantrums with or without aggression may be rational targets for psychopharmacological intervention. The best-studied drug class to date has been the second-generation antipsychotics targeting irritability.

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41. Schindel BJ, Baer Chen B, Wilcox HC, Marvin AR, Law JK, Lipkin PH. Suicidal Thoughts and Behaviors Among Children and Adolescents With Autism Spectrum Disorder. JAMA Pediatr. 2024.

This survey study uses data from the Mental Health and Suicidal Behaviors Questionnaire to examine the age at onset of suicidal thoughts and behaviors among children and adolescents aged 8 to 17 years who have been diagnosed with autism spectrum disorder (ASD). eng Simons Foundation and the Patient-Centered Outcomes Research Institute (PCORI) during the conduct of the study. Dr Marvin reported being an employee of the US Social Security Administration outside the submitted work. Dr Law reported receiving grants from the Simons Foundation and PCORI during the conduct of the study. Dr Lipkin reported receiving grants from the Simons Foundation, American Foundation for Suicide Prevention, and PCORI during the conduct of the study and being a paid member of the advisory board at Sarepta, Inc, outside the submitted work. No other disclosures were reported.

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42. Shrestha M, Basukala S, Thapa N, Shrestha O, Basnet M, Shrestha K, Regmi S, Chhetri ST, Kunwor B. Prevalence of autism spectrum disorder among children in Southeast Asia from 2002 to 2022: An updated systematic review and meta-analysis. Health Sci Rep. 2024; 7(4): e2005.

BACKGROUND AND AIMS: Autism spectrum disorder (ASD) is a neurodevelopmental condition that impacts the brain, characterized by challenges in social communication and interaction, often accompanied by repetitive behaviors or focused interests. This study sheds light on the prevalence of ASD within the Southeast Asian region. METHODS: The study protocol was registered in PROSPERO (Registration No: CRD42023413915). Appropriate search terms and Boolean operators were employed to explore electronic databases for relevant articles. Data thus extracted were prepared in Excel and analyzed in Comprehensive Meta-Analysis Software. The effect measure utilized in the study was represented by the proportion, and the choice between a fixed or random-effect model depended on the observed heterogeneity. Visual feedback was provided through the use of forest plots and funnel plots. RESULTS: A total of 14 studies were included in the qualitative and quantitative synthesis after screening the imported studies. The prevalence of ASD was six per 1000 population (proportion: 0.006; CI: 0.002-0.017; I (2): 99.263%). Among the ASD cases, 64.4% (proportion: 0.644; CI: 0.590-0.693; I (2): 9.937%) were males and 35.6% (proportion: 0.356; CI: 0.307-0.410; I (2): 9.937%) were females. CONCLUSION: The prevalence of ASD in Southeast Asia was estimated to be six cases per 1000 individuals, with a higher prevalence among males. This study contributes to our understanding of ASD prevalence in the region, although it is essential to note certain limitations in estimating prevalence.

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43. Sidhu N, Wong Z, Bennett AE, Souders MC. Sleep Problems in Autism Spectrum Disorder. Pediatr Clin North Am. 2024; 71(2): 253-68.

Sleep problems are common in children with autism spectrum disorder (ASD), with 40% to 80% prevalence. Common disorders include insomnia, parasomnias, and circadian rhythm sleep-wake disorders. These problems have a multifactorial etiology and can both exacerbate and be exacerbated by core ASD symptoms. Sleep problems also impact the health and quality of life of both patients and their caregivers. All children with autism should be regularly screened for sleep problems and evaluated for co-occurring medical contributors. Behavioral interventions with caregiver training remain first-line treatment for sleep disorders in both neurotypical and neurodiverse youth.

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44. Sohl K, Oberweiser C, Ranum E, Oberweiser C, Cornell W. A Pediatrician’s Practical Guide for Navigating Transition to Adulthood with Autistic Youth and Their Caregivers. Pediatr Clin North Am. 2024; 71(2): 315-26.

When pediatricians, autistic people, and their families carefully consider and plan for the transition from pediatric care to adult care, there are better outcomes for patients. Pediatricians see their patients over time and are uniquely positioned to help prepare for the changes that come with the transition through adolescents to adulthood. Although programs such as Got Transition offer some guidance on how to navigate the transition from pediatric care to adult care, there is less information on how to help those on the autism spectrum and their families transition to adulthood in other ways.

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45. Su WC, Cleffi C, Srinivasan S, Bhat A. A Pilot Study Comparing the Efficacy, Fidelity, Acceptability, and Feasibility of Telehealth and Face-to-Face Creative Movement Interventions in Children with Autism Spectrum Disorder. Telemed Rep. 2024; 5(1): 67-77.

AIMS: We compared the efficacy, fidelity, acceptability, and feasibility of a creative movement (CM) intervention for children with autism spectrum disorder (ASD), delivered face-to-face (F2F) or through telehealth (TH). METHODS: Fifteen children with ASD received the CM intervention F2F or through TH. Motor assessments were used to evaluate effects of F2F and TH interventions on children’s motor skills, while video coding was used to assess affect, socially directed verbalization, interpersonal synchrony, and motor coordination during training. Stakeholder feedback and training fidelity data on the intervention were also collected. RESULTS: Children in both subgroups showed similar baseline performance and training-related improvements in motor skills, positive/interested affect, socially directed verbalization, interpersonal synchrony, and dual/multilimb coordination. Parents in the TH subgroup considered the intervention feasible and acceptable; however, they reported greater effort to supervise and redirect their child’s attention compared to the F2F subgroup. Trainers for the TH subgroup reported more communication difficulties, technological issues, and longer session lengths, but found greater parental involvement compared to the F2F subgroup. CONCLUSIONS: CM interventions are consistent, acceptable, feasible, and effective in improving social, behavioral-affective, and motor skills of children with ASD, regardless of the method of delivery. Clinicians should make efforts to reduce communication/technological issues and parental burden when delivering CM interventions through TH. ClinicalTrials.Gov Study ID-NCT04258254.

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46. Sweat SC, Cheetham CEJ. Deficits in olfactory system neurogenesis in neurodevelopmental disorders. Genesis. 2024; 62(2): e23590.

The role of neurogenesis in neurodevelopmental disorders (NDDs) merits much attention. The complex process by which stem cells produce daughter cells that in turn differentiate into neurons, migrate various distances, and form synaptic connections that are then refined by neuronal activity or experience is integral to the development of the nervous system. Given the continued postnatal neurogenesis that occurs in the mammalian olfactory system, it provides an ideal model for understanding how disruptions in distinct stages of neurogenesis contribute to the pathophysiology of various NDDs. This review summarizes and discusses what is currently known about the disruption of neurogenesis within the olfactory system as it pertains to attention-deficit/hyperactivity disorder, autism spectrum disorder, Down syndrome, Fragile X syndrome, and Rett syndrome. Studies included in this review used either human subjects, mouse models, or Drosophila models, and lay a compelling foundation for continued investigation of NDDs by utilizing the olfactory system.

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47. Tareen MK, Mohiyuddin Z. Look at DAYBUE™ (Trofinetide) as first ever drug for treatment of Rett Syndrome. Asian J Psychiatr. 2024; 95: 104011.

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48. The Lancet O. Intellectual and developmental disabilities-an under-recognised driver of cancer mortality. Lancet Oncol. 2024; 25(4): 411.

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49. Vasa RA, Neamsapaya K, Cross EA, Kalb L. Mental Health Crises in Autistic Children: A Framework for Prevention and Intervention in Primary Care. Pediatr Clin North Am. 2024; 71(2): 269-82.

Children with autism are at high risk for experiencing a mental health crisis, which occurs when psychiatric and behavioral symptoms become a danger and caregivers do not have the resources to safely manage the event. Our current mental health systems of care are not fully prepared to manage crisis in autistic individuals, due to the shortage of available mental health providers and programs that are tailored for autistic children. However, new strategies to address crisis are gradually emerging. This article provides a framework to define crisis and implement prevention and intervention approaches that could potentially mitigate risk for crisis.

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50. Vlasits AL, Syeda M, Wickman A, Guzman P, Schmidt TM. Atypical retinal function in a mouse model of Fragile X syndrome. bioRxiv. 2024.

Altered function of peripheral sensory neurons is an emerging mechanism for symptoms of autism spectrum disorders. Visual sensitivities are common in autism, but whether differences in the retina might underlie these sensitivities is not well-understood. We explored retinal function in the Fmr1 knockout model of Fragile X syndrome, focusing on a specific type of retinal neuron, the « sustained On alpha » retinal ganglion cell. We found that these cells exhibit changes in dendritic structure and dampened responses to light in the Fmr1 knockout. We show that decreased light sensitivity is due to increased inhibitory input and reduced E-I balance. The change in E-I balance supports maintenance of circuit excitability similar to what has been observed in cortex. These results show that loss of Fmr1 in the mouse retina affects sensory function of one retinal neuron type. Our findings suggest that the retina may be relevant for understanding visual function in Fragile X syndrome.

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51. Wachtel LE, Escher J, Halladay A, Lutz A, Satriale GM, Westover A, Lopez-Arvizu C. Profound Autism: An Imperative Diagnosis. Pediatr Clin North Am. 2024; 71(2): 301-13.

Profound autism refers to a subset of individuals with autism spectrum disorder who have an intellectual disability with an intelligence quotient less than 50 and minimal-to-no language and require 24-hour supervision and assistance with activities of daily living. The general pediatrician will invariably work with autistic children across the spectrum and will likely encounter youth with profound autism. Awareness of profound autism as a real entity describing autistic children with concomitant intellectual disability and language impairment who require 24-hour care is the first step in developing a solid pediatric home for these youth.

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52. Wallis KE, Guthrie W. Screening for Autism: A Review of the Current State, Ongoing Challenges, and Novel Approaches on the Horizon. Pediatr Clin North Am. 2024; 71(2): 127-55.

Screening for autism is recommended in pediatric primary care. However, the median age of autism spectrum disorder (ASD) diagnosis is substantially higher than the age at which autism can reliably be identified, suggesting room for improvements in autism recognition at young ages, especially for children from minoritized racial and ethnic groups, low-income families, and families who prefer a language other than English. Novel approaches are being developed to utilize new technologies in aiding in autism recognition. However, attention to equity is needed to minimize bias. Additional research on the benefits and potential harms of universal autism screening is needed. The authors provide suggestions for pediatricians who are considering implementing autism-screening programs.

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53. Wang Y, Long H, Bo T, Zheng J. Residual graph transformer for autism spectrum disorder prediction. Comput Methods Programs Biomed. 2024; 247: 108065.

Brain functional connectivity (FC) based on resting-state functional magnetic resonance imaging (rs-fMRI) has been in vogue to predict Autism Spectrum Disorder (ASD), which is a neuropsychiatric disease up the plight of locating latent biomarkers for clinical diagnosis. Albeit massive endeavors have been made, most studies are fed up with several chronic issues, such as the intractability of harnessing the interaction flourishing within brain regions, the astriction of representation due to vanishing gradient within deeper network architecture, and the poor interpretability leading to unpersuasive diagnosis. To ameliorate these issues, a FC-learned Residual Graph Transformer Network, namely RGTNet, is proposed. Specifically, we design a Graph Encoder to extract temporal-related features with long-range dependencies, from which interpretable FC matrices would be modeled. Besides, the residual trick is introduced to deepen the GCN architecture, thereby learning the higher-level information. Moreover, a novel Graph Sparse Fitting followed by weighted aggregation is proposed to ease dimensionality explosion. Empirically, the results on two types of ABIDE data sets demonstrate the meliority of RGTNet. Notably, the achieved ACC metric reaches 73.4%, overwhelming most competitors with merely 70.9% on the AAL atlas using a five-fold cross-validation policy. Moreover, the investigated biomarkers concord closely with the authoritative medical knowledge, paving a viable way for ASD-clinical diagnosis. Our code is available at https://github.com/CodeGoat24/RGTNet.

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54. Wei Q, Xiao Y, Yang T, Chen J, Chen L, Wang K, Zhang J, Li L, Jia F, Wu L, Hao Y, Ke X, Yi M, Hong Q, Chen J, Fang S, Wang Y, Wang Q, Jin C, Xu X, Li T. Predicting autism spectrum disorder using maternal risk factors: A multi-center machine learning study. Psychiatry Res. 2024; 334: 115789.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a complex environmental etiology involving maternal risk factors, which have been combined with machine learning to predict ASD. However, limited studies have considered the factors throughout preconception, perinatal, and postnatal periods, and even fewer have been conducted in multi-center. In this study, five predictive models were developed using 57 maternal risk factors from a cohort across ten cities (ASD:1232, typically developing[TD]: 1090). The extreme gradient boosting model performed best, achieving an accuracy of 66.2 % on the external cohort from three cities (ASD:266, TD:353). The most important risk factors were identified as unstable emotions and lack of multivitamin supplementation using Shapley values. ASD risk scores were calculated based on predicted probabilities from the optimal model and divided into low, medium, and high-risk groups. The logistic analysis indicated that the high-risk group had a significantly increased risk of ASD compared to the low-risk group. Our study demonstrated the potential of machine learning models in predicting the risk for ASD based on maternal factors. The developed model provided insights into the maternal emotion and nutrition factors associated with ASD and highlighted the potential clinical applicability of the developed model in identifying high-risk populations.

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55. Yazdani A, Samms-Vaughan M, Saroukhani S, Bressler J, Hessabi M, Tahanan A, Grove ML, Gangnus T, Putluri V, Kamal AHM, Putluri N, Loveland KA, Rahbar MH. Metabolomic profiles in Jamaican children with and without autism spectrum disorder. ArXiv. 2024.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a wide range of behavioral and cognitive impairments. While genetic and environmental factors are known to contribute to its etiology, the underlying metabolic perturbations associated with ASD which can potentially connect genetic and environmental factors, remain poorly understood. Therefore, we conducted a metabolomic case-control study and performed a comprehensive analysis to identify significant alterations in metabolite profiles between children with ASD and typically developing (TD) controls. The objective of this study is to elucidate potential metabolomic signatures associated with ASD in children and identify specific metabolites that may serve as biomarkers for the disorder. We conducted metabolomic profiling on plasma samples from participants in the second phase of Epidemiological Research on Autism in Jamaica, a cohort of 200 children with ASD and 200 TD controls (2-8 years old). Using high-throughput liquid chromatography-mass spectrometry techniques, we performed a targeted metabolite analysis, encompassing amino acids, lipids, carbohydrates, and other key metabolic compounds. After quality control and imputation of missing values, we performed univariable and multivariable analysis using normalized metabolites while adjusting for covariates, age, sex, socioeconomic status, and child’s parish of birth. Our findings revealed unique metabolic patterns in children with ASD for four metabolites compared to TD controls. Notably, three of these metabolites were fatty acids, including myristoleic acid, eicosatetraenoic acid, and octadecenoic acid. Additionally, the amino acid sarcosine exhibited a significant association with ASD. These findings highlight the role of metabolites in the etiology of ASD and suggest opportunities for the development of targeted interventions.

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56. Zandam H, Akobirshoev I, Mitra M. Multiple Chronic Condition Emergency Department Visits Among U.S. Adults: Disparities at the Intersection of Intellectual and Developmental Disabilities Status and Race or Ethnicity. Health Equity. 2024; 8(1): 198-205.

BACKGROUND: The study aims to examine the risk of multiple chronic condition (MCC)-related emergency department (ED) visits, MCC-related hospitalization following the ED visit, and mortality after MCC-related ED visits among adults with intellectual and developmental disabilities (IDD), adults compared with nondisabled adults by race and ethnicity, using the 2020 Healthcare Cost and Utilization Project Nationwide Emergency Department Sample. METHODS: We identified IDD adults using ICD-10-CM codes, extracting 296,394 nondisabled adults and 99,538 IDD adults, of which 67,771 are white, 19,164 are black, 10,667 are Latinx, and 1936 are other race or multiple race. The control group of nondisabled adults was age-matched and sex-matched in a 1:3 case-control ratio. We conducted multilevel Poisson regression models for the binary-dependent variables and adjusted for covariates, including sociodemographic and hospital characteristics. RESULTS: The results show that across all racial/ethnic groups, individuals with IDD have significantly higher rates of MCC-related ED visits, hospitalizations, and deaths compared with nondisabled. Moreover, the disparities are more pronounced for individuals from racial/ethnic minority groups. Black and Latinx individuals with IDD have significantly higher rates of MCC-related ED visits and poor outcomes than their white counterparts with and without IDD. CONCLUSIONS: The findings from this study highlight significant racial and ethnic disparities in the risk of MCC-related ED visits, hospitalization following the ED visit, and mortality through the ED among IDD adults. This underscores the importance of adopting a multifaceted approach that addresses the social determinants of health, enhances access to health care, improves quality of care, and enhances care coordination.

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