1. Ault S, Herbell K, Helsabeck N, Stephenson K, Breitenstein SM, Smith LM. Feasibility, acceptability, and effects of a web-delivered behavioral parent training intervention for rural parents of children with autism spectrum disorder: A protocol. PLoS One;2024;19(8):e0307273.

Caregivers of children with autism spectrum disorder (ASD) often report higher levels of stress and mental health issues. Support services and parent training programs may help buffer the effects of caring for a child with ASD. However, due to the national lack of trained ASD providers and disparity of ASD support resources available in rural areas, caregivers often go without support. A possible solution to reach caregivers in rural areas is web-based interventions. This paper describes an ongoing pilot study examining the feasibility, acceptability, and preliminary effects on caregiver well-being and disruptive child behaviors for a web-based parent training program (Attend Behavior) for caregivers of young children (ages 2-11 years old) with autism spectrum disorder (ASD) living in rural areas (trial registration NCT05554198). The intervention is available on the internet as well as a downloadable app for mobile phones. Participants will be invited to use the intervention program for 12-weeks. Prior to using the program, participants will be asked to take a baseline survey assessing depressive symptoms (PROMIS Depression Short Form-6a), caregiver stress (Parenting Stress Index-Short Form), child disruptive behaviors (Home Situations Questionnaire-ASD and Aberrant Behavior Checklist). After 12-weeks, participants will be asked to complete a post-intervention survey with the same measurement scales plus questions regarding intervention acceptability, appropriateness, and feasibility (Acceptability of Intervention, Intervention Appropriateness Measure, and the Feasibility of Intervention Measure). Participants are also invited to partake in a brief 1:1 interview with a study team member to give further feedback regarding the intervention. Study retention and participant app usage data will be examined. Information generated from this pilot study will be used to inform a future larger scale randomized control trial of Attend Behavior.

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2. Bove M, Sikora V, Santoro M, Agosti LP, Palmieri MA, Dimonte S, Tucci P, Schiavone S, Morgese MG, Trabace L. Sex differences in the BTBR idiopathic mouse model of Autism Spectrum Disorders: behavioural and redox-related hippocampal alterations. Neuropharmacology;2024 (Aug 27):110134.

Autism spectrum disorders (ASD) are highly heterogeneous neurodevelopmental diseases. Epidemiological data report that males have been diagnosed with autism more frequently than females. However, recent studies hypothesize that females’ low incidence might be underestimated due to standard clinical measures of ASD behavioural symptoms, mostly derived from males. Indeed, up to now, ASD mouse models focused mainly only on males, considering the prevalence of the diagnosis in that sex. Regarding ASD aetiopathogenesis, it has been recently reported that oxidative stress might be implicated in its onset and development, suggesting an association with ASD typical repetitive behaviours that still need to be disentangled. Here, we investigated possible behavioural and molecular sex-related differences by using the BTBR mouse model of idiopathic ASD. To this aim, animals were exposed to behavioural tests related to different ASD core symptoms and comorbidities, i.e.Marble Burying, Hole Board, Open Field, Elevated Zero Maze and Social Interaction tests stereotyped repertoire, social dysfunctions, hyperlocomotion and risk-taking behaviours. Moreover, we analysed hippocampal levels of pro-oxidant and anti-oxidant enzymes, together with biomarkers of oxidative stress and lipid peroxidation. Our results showed that BTBR females did not display the same patterns for repetitive behaviours as the male counterpart. From a biomolecular point of view, we found an increase in oxidative stress and pro-oxidant enzymes, accompanied by deficient enzymatic anti-oxidant response, only in BTBR males compared to C57BL/6 male mice, while no differences were retrieved in females. Overall, our study suggests that in females there is an urgent need to depict the distinct ASD symptomatology, accompanied by the identification of sex-specific pharmacological targets.

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3. Cano A, Santos D, Beltrão-Braga PCB. The Interplay of Astrocytes and Neurons in Autism Spectrum Disorder. Adv Neurobiol;2024;39:269-284.

Autism spectrum disorder (ASD) comprises a complex neurodevelopmental condition characterized by an impairment in social interaction, involving communication deficits and specific patterns of behaviors, like repetitive behaviors. ASD is clinically diagnosed and usually takes time, typically occurring not before four years of age. Genetic mutations affecting synaptic transmission, such as neuroligin and neurexin, are associated with ASD and contribute to behavioral and cognitive deficits. Recent research highlights the role of astrocytes, the brain’s most abundant glial cells, in ASD pathology. Aberrant Ca(2+) signaling in astrocytes is linked to behavioral deficits and neuroinflammation. Notably, the cytokine IL-6 overexpression by astrocytes impacts synaptogenesis. Altered neurotransmitter levels, disruptions in the blood-brain barrier, and cytokine dysregulation further contribute to ASD complexity. Understanding these astrocyte-related mechanisms holds promise for identifying ASD subtypes and developing targeted therapies.

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4. Davis DW, Jawad K, Feygin YB, Stevenson M, Wattles B, Jones VF, Porter J, Lohr WD, Le J. The Relationships Among Neighborhood Disadvantage, Mental Health and Developmental Disabilities Diagnoses, and Race/Ethnicity in a U.S. Urban Location. Child Psychiatry Hum Dev;2024 (Aug 27)

Childhood health disparities by race have been found. Neighborhood disadvantage, which may result from racism, may impact outcomes. The aim of the study is to describe the distribution of mental health (MH) and developmental disabilities (DD) diagnosis across Child Opportunity Index (COI) levels by race/ethnicity. A cross-sectional study using 2022 outpatient visit data for children < 18 years living in the Louisville Metropolitan Area (n = 115,738) was conducted. Multivariable logistic regression analyses examined the association between diagnoses and COI levels, controlling for sex and age. Almost 18,000 children (15.5%) had a MH or DD (7,905 [6.8%]) diagnosis. In each COI level, the prevalence of MH diagnosis was lower for non-Hispanic (N-H) Black than for N-H White children. In adjusted analyses, there were no significant associations between diagnoses and COI for non-White children for MH or DD diagnoses. The odds of receiving a MH [OR: 1.74 (95% CI: 1.62, 1.87)] and DD [OR: 1.69 (95% CI: 1.51, 1.88)] diagnosis were higher among N-H White children living in Very Low compared to Very High COI areas. Current findings suggest that COI does not explain disparities in diagnosis for non-White children. More research is needed to identify potential multi-level drivers such as other forms of racism. Identifying programs, policies, and interventions to reduce childhood poverty and link children and families to affordable, family-centered, quality community mental and physical health resources is needed to ensure that families can build trusting relationships with the providers while minimizing stigma.

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5. Dumont C, Belenger M, Eigsti IM, Kissine M. Enhanced pitch discrimination in autistic children with unexpected bilingualism. Autism Res;2024 (Aug 26)

Some autistic children acquire foreign languages from exposure to screens. Such unexpected bilingualism (UB) is therefore not driven by social interaction, rather, language acquisition appears to rely on less socially mediated learning and other cognitive processes. We hypothesize that UB children may rely on other cues, such as acoustic cues, of the linguistic input. Previous research indicates enhanced pitch processing in some autistic children, often associated with language delays and difficulties in forming stable phonological categories due to sensitivity to subtle linguistic variations. We propose that repetitive screen-based input simplifies linguistic complexity, allowing focus on individual cues. This study hypothesizes that autistic UB children exhibit superior pitch discrimination compared with both autistic and non-autistic peers. From a sample of 46 autistic French-speaking children aged 9 to 16, 12 were considered as UB. These children, along with 45 non-autistic children, participated in a two-alternative forced-choice pitch discrimination task. They listened to pairs of pure tones, 50% of which differed by 3% (easy), 2% (medium), or 1% (hard). A stringent comparison of performance revealed that only the autistic UB group performed above chance for tone pairs that differed, across all conditions. This group demonstrated superior pitch discrimination relative to autistic and non-autistic peers. This study establishes the phenomenon of UB in autism and provides evidence for enhanced pitch discrimination in this group. Acute perception of auditory information, combined with repeated language content, may facilitate UB children’s focus on phonetic features, and help acquire a language with no communicative support or motivation.

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6. Erdal İ, Yıldız Y, Kuseyri Hübschmann O, Haas D, Günbey C, Ertuğrul İ, Yalnızoğlu D. Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report. J Pediatr Endocrinol Metab;2024 (Aug 27);37(8):741-744.

OBJECTIVES: Dihydropyrimidinase deficiency is a rare autosomal recessive disorder of the pyrimidine degradation pathway, with fewer than 40 patients published. Clinical findings are variable and some patients may remain asymptomatic. Global developmental delay and increased susceptibility to 5-fluorouracil are commonly reported. Here we present atrioventricular septal defect as a novel feature in dihydropyrimidinase deficiency. CASE PRESENTATION: A four-year-old male with global developmental delay, dysmorphic facies, autistic features and a history of seizures was diagnosed with dihydropyrimidinase deficiency based on strikingly elevated urinary dihydrouracil and dihydrothymine and a homozygous pathogenic nonsense variant in DPYS gene. He had a history of complete atrioventricular septal defect corrected surgically in infancy. CONCLUSIONS: This is the second report of congenital heart disease in dihydropyrimidinase deficiency, following a single patient with a ventricular septal defect. The rarity of the disease and the variability of the reported findings make it difficult to describe a disease-specific clinical phenotype. The mechanism of neurological and other systemic findings is unclear. Dihydropyrimidinase deficiency should be considered in patients with microcephaly, developmental delay, epilepsy and autistic traits. We suggest that congenital heart disease may also be a rare phenotypic feature.

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7. Fernandez M, Soyele A, Arenyeka T, Hashmi K, Mupedziswa R. Clinical Analysis for Diagnosing Autism in Children Under Two: A Case Report. Cureus;2024 (Aug);16(8):e67888.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with rising prevalence, necessitating early diagnosis and intervention. This case report examines the clinical diagnosis approach of ASD in children under two years, emphasizing motor developmental delay, chromosome 19 mutations, prematurity, macrocephaly, and false-negative Modified Checklist for Autism in Toddlers (MCHAT) results. This study identifies gross motor delays as a potential key indicator in the diagnosis of ASD, as all five cases (Patients A, B, C, D, and E) were observed to have such deficits. Two cases (Patients A and B) initially had negative MCHAT results but were later diagnosed with ASD. Patients C and E both had a chromosome 19 abnormality. Patient E had macrocephaly and an amino acid metabolism disorder. ASD atypical behaviors like hand flapping, wringing, and twirling were also noted. Our systematic review validated the key findings presented in this study, unveiling a consistent pattern throughout the existing literature about ASD diagnoses and the associated misconceptions. These cases highlight the significance of early motor delay, genetic factors, and the limitations of MCHAT in early ASD diagnosis. This case report underscores the need for improved screening tools, genetic investigations, and comprehensive assessments to enhance early detection and intervention for ASD. Early identification and personalized interventions hold a promise to improve the outcomes and quality of life for children with autism.

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8. Fuentes-Albero M, Mafla-España MA, Martínez-Raga J, Cauli O. Autistic Children/Adolescents Have Lower Adherence to the Mediterranean Diet and Higher Salivary IL-6 Concentration: Potential Diet-Inflammation Links?. Pathophysiology;2024 (Jul 28);31(3):376-387.

BACKGROUND: Autism spectrum disorder (ASD) is one of the most prevalent neurodevelopmental disorders. Many patients with ASD often show behavioral problems at mealtimes, including food selectivity and atypical feeding behaviors. The Mediterranean diet (MD) has a beneficial effect on mental health for the general population across different ages. There is evidence that good adherence to the MD is effective in reducing peripheral inflammatory markers, such as the cytokine interleukin-6 (IL-6). The present study was designed to evaluate adherence to the MD in children with ASD using age- and sex-matched, typically developing individuals (TDs) as a control group and to determine whether differences in adherence to the MD are associated with salivary IL-6 and IL-6 receptor concentration. METHODS: Twenty children and adolescents with ASD (mean age 9.95 ± 0.65 years) and twenty TDs (mean age: 9.85 ± 0.59 years) participated in this study (N = 16 males and N = 4 females in each group). Participants with ASD were enrolled in a psychiatric consultation in Valencia (Spain), and TDs were recruited from two public schools in Valencia. The parents of both ASD and TD groups answered the items in a validated Mediterranean Diet Quality Index for children and adolescents (KIDMED) questionnaire on their children’s adherence to the MD. RESULTS: The mean adherence to MD score was significantly lower in the ASD group (9.10 ± 0.42) (range 6-12) than in the TD group (10.35 ± 0.31) (range 8-12) (p = 0.02, Mann-Whitney U test). There was no statistically significant association between adherence to the MD and age or sex in both groups, but there was a significant correlation between the total KIDMED score and body mass index (BMI) in the ASD group. Regarding the concentration of Il-6 and the Il-6 receptor in saliva samples, there were no significant differences between the two groups; however, linear regression analysis by group revealed significant associations between the adherence to MD score and the concentration of IL-6 and its receptor in saliva in the ASD group (p = 0.003, OR = 0.68, 95% CI 0.007 to -0.02; p = 0.009, OR = -0.64, 95% CI -0.01 to -0.00). In contrast, no significant associations were observed between the adherence to MD score and the concentration of IL-6 and its receptor in saliva in the TD group. CONCLUSIONS: Children and adolescents with ASD showed significantly lower adherence to the MD, which can contribute to nutritional deficits described in ASD, and the role of BMI composition (fat versus lean mass) needs to be further investigated in this group. The concentration of IL-6 and its receptor in saliva is associated with adherence to the MD, suggesting a possible link between IL-6 and diet in ASD. Further studies to clarify the associations between IL-6, psychiatric alterations, and diet in ASD are needed.

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9. Godavarthi SK, Li HQ, Pratelli M, Spitzer NC. Embryonic exposure to environmental factors drives transmitter switching in the neonatal mouse cortex causing autistic-like adult behavior. Proc Natl Acad Sci U S A;2024 (Aug 27);121(35):e2406928121.

Autism spectrum disorders (ASD) can be caused by environmental factors. These factors act early in the development of the nervous system and induce stereotyped repetitive behaviors and diminished social interactions, among other outcomes. Little is known about how these behaviors are produced. In pregnant women, delivery of valproic acid (VPA) (to control seizure activity or stabilize mood) or immune activation by a virus increases the incidence of ASD in offspring. We found that either VPA or Poly Inosine:Cytosine (which mimics a viral infection), administered at mouse embryonic day 12.5, induced a neurotransmitter switch from GABA to glutamate in PV- and CCK-expressing interneurons in the medial prefrontal cortex by postnatal day 10. The switch was present for only a brief period during early postnatal development, observed in male and female mice at postnatal day 21 and reversed in both males and females by postnatal day 30. At postnatal day 90, male mice exhibited stereotyped repetitive behaviors and diminished social interaction while female mice exhibited only stereotyped repetitive behavior. Transfecting GAD1 in PV- and CCK-expressing interneurons at postnatal day 10, to reintroduce GABA expression, overrode the switch and prevented expression of autistic-like behavior. These findings point to an important role of neurotransmitter switching in mediating the environmental causes of autism.

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10. London EB, Zimmerman-Bier BL, Yoo JH, Gaffney JW. High-Dose Propranolol for Severe and Chronic Aggression in Autism Spectrum Disorder: A Pilot, Double-Blind, Placebo-Controlled, Randomized Crossover Study. J Clin Psychopharmacol;2024 (Aug 27)

BACKGROUND: Despite the use of behavioral interventions and psychotropic medications, many individuals with autism spectrum disorder (ASD) who engage in severe aggression remain refractory to conventional treatment. Propranolol, a beta-blocker, has accumulated much anecdotal evidence as a promising option. However, well-designed studies are rare, and the apprehension about cardiovascular side effects from large doses continues to exist. PURPOSE: The aims of this study were (1) to demonstrate the feasibility of treating aggression with high-dose propranolol using telehealth study visits and (2) to document cardiac safety. METHODS: This study utilized a randomized, double-blind, placebo-controlled, crossover design. Dosing was titrated up in a flexible but stepwise fashion until therapeutic response was obtained or up to 200 mg tid. Following washout, those who were assigned propranolol were crossed over to placebo and vice versa. Six participants between the ages 12-19 participated. The primary outcome measures were the final Clinical Global Impression Improvement Scale (CGI-I) and the ABC-C/I scores at 200 mg tid. RESULTS: The CGI-I indicated a 50% reduction in symptoms in the propranolol phase, while the ABC-I indicated a 37% reduction in comparison to placebo. The effect sizes ( r ) for the CGI-I and the ABC-C/I were large, -0.74 and 0.64, respectively. The average blood pressure was 122/68 during the placebo phase and 109/72 during the propranolol phase. All Holter monitor exams were unremarkable. CONCLUSION: These results suggest that propranolol is an effective option in decreasing aggression in individuals with ASD. As this was a small study, a larger clinical trial is needed.

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11. Ma Y, Mu X, Zhang T, Zhao Y. MAFT-SO: A novel multi-atlas fusion template based on spatial overlap for ASD diagnosis. J Biomed Inform;2024 (Aug 24);157:104714.

Autism spectrum disorder (ASD) is a common neurological condition. Early diagnosis and treatment are essential for enhancing the life quality of individuals with ASD. However, most existing studies either focus solely on the brain networks of subjects within a single atlas or merely employ simple matrix concatenation to represent the fusion of multi-atlas. These approaches neglected the natural spatial overlap that exists between brain regions across multi-atlas and did not fully capture the comprehensive information of brain regions under different atlases. To tackle this weakness, in this paper, we propose a novel multi-atlas fusion template based on spatial overlap degree of brain regions, which aims to obtain a comprehensive representation of brain networks. Specifically, we formally define a measurement of the spatial overlap among brain regions across different atlases, named spatial overlap degree. Then, we fuse the multi-atlas to obtain brain networks of each subject based on spatial overlap. Finally, the GCN is used to perform the final classification. The experimental results on Autism Brain Imaging Data Exchange (ABIDE) demonstrate that our proposed method achieved an accuracy of 0.757. Overall, our method outperforms SOTA methods in ASD/TC classification.

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12. McNally Keehn R, Paxton A, Delaney M, Ciccarelli M. Training and Sustaining: Training and Learning Collaborative Outcomes Across a Statewide Network for Early Autism Diagnosis. J Dev Behav Pediatr;2024 (Aug 22)

OBJECTIVE: The objective of this study was to describe the development of a primary care professional (PCP) autism diagnosis training model and to report on outcomes related to PCP training and sustained engagement in a longitudinal learning collaborative. METHODS: We developed Accelerating the Diagnosis of Autism with Primary care Training (ADAPT), a training program to prepare PCPs to develop independent competency in evaluation of autism in children aged 14 to 48 months. ADAPT includes didactic and case-based modules and practice-based coaching delivered by an expert diagnostic specialist; after training, PCPs participate in a longitudinal learning collaborative. Aligned with competency-based medical education standards, measures of autism evaluation knowledge and diagnostic competency are collected. RESULTS: From 2021 to 2023, 13 PCPs completed ADAPT didactic and practicum training to reach competency in independent autism evaluation. Clinicians demonstrated significant improvement in total autism knowledge after didactic training (p = 0.02). Scoring agreement on an autism observational assessment tool between clinicians and expert diagnosticians improved over case observations and practicum evaluations. Similarly, PCPs demonstrated improved evaluation competence, moving on average from Advanced Beginner to Competent Performer as rated by expert diagnosticians. After training, PCPs attended 57% of monthly learning collaborative sessions. CONCLUSION: Training PCPs to deliver autism evaluations for young children as part of tiered community-based models of care is a promising solution to address access and waitlist challenges. ADAPT is an intensive, standardized PCP training model that results in achievement of independent competency and sustained engagement in autism evaluation. Effectiveness-implementation studies are needed to ensure scalability and sustainability of training models.

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13. Megagiannis P, Mei Y, Yan RE, Yuan L, Wilde JJ, Eckersberg H, Suresh R, Tan X, Chen H, Farmer WT, Cha K, Le PU, Catoire H, Rochefort D, Kwan T, Yee BA, Dion P, Krishnaswamy A, Cloutier JF, Stifani S, Petrecca K, Yeo GW, Murai KK, Feng G, Rouleau GA, Ideker T, Sanjana NE, Zhou Y. Autism-associated CHD8 controls reactive gliosis and neuroinflammation via remodeling chromatin in astrocytes. Cell Rep;2024 (Aug 27);43(8):114637.

Reactive changes of glial cells during neuroinflammation impact brain disorders and disease progression. Elucidating the mechanisms that control reactive gliosis may help us to understand brain pathophysiology and improve outcomes. Here, we report that adult ablation of autism spectrum disorder (ASD)-associated CHD8 in astrocytes attenuates reactive gliosis via remodeling chromatin accessibility, changing gene expression. Conditional Chd8 deletion in astrocytes, but not microglia, suppresses reactive gliosis by impeding astrocyte proliferation and morphological elaboration. Astrocyte Chd8 ablation alleviates lipopolysaccharide-induced neuroinflammation and septic-associated hypothermia in mice. Astrocytic CHD8 plays an important role in neuroinflammation by altering the chromatin landscape, regulating metabolic and lipid-associated pathways, and astrocyte-microglia crosstalk. Moreover, we show that reactive gliosis can be directly mitigated in vivo using an adeno-associated virus (AAV)-mediated Chd8 gene editing strategy. These findings uncover a role of ASD-associated CHD8 in the adult brain, which may warrant future exploration of targeting chromatin remodelers in reactive gliosis and neuroinflammation in injury and neurological diseases.

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14. Ng AP, Kim S, Chervu N, Gao Z, Mallick S, Benharash P, Lee H. Disparities in outcomes of colorectal cancer surgery among adults with intellectual and developmental disabilities. PLoS One;2024;19(8):e0308938.

BACKGROUND: Disparities in colorectal cancer screening have been documented among people with intellectual and developmental disabilities (IDD). However, surgical outcomes in this population have yet to be studied. The present work aimed to evaluate the association of IDD with outcomes following colorectal cancer resection. METHODS: All adults undergoing resection for colorectal cancer in the 2011-2020 National Inpatient Sample were identified. Multivariable linear and logistic regression models were developed to examine the association of IDD with risk factors as well as outcomes including mortality, complications, costs, length of stay (LOS), and non-home discharge. The study is limited by its retrospective nature and did not capture disease staging or time of diagnosis. RESULTS: Among 722,736 patients undergoing colorectal cancer resection, 2,846 (0.39%) had IDD. Compared to patients without IDD, IDD patients were younger and had a higher burden of comorbidities. IDD status was associated with increased odds of non-elective admission (AOR 1.40 [95% CI 1.14-1.73]) and decreased odds of treatment at high-volume centers (AOR 0.64 [95% CI 0.51-0.81]). Furthermore, IDD patients experienced significantly greater LOS (9 vs 6 days, p<0.001) and hospitalization costs ($23,500 vs $19,800, p<0.001) relative to neurotypical patients. Upon risk adjustment, IDD was significantly associated with 2-fold increased odds of mortality (AOR 2.34 [95% CI 1.48-3.71]), 1.4-fold increase in complications (AOR 1.41 [95% CI 1.15-1.74]), and 6.8-fold increase in non-home discharge (AOR 6.83 [95% CI 5.46-8.56]). CONCLUSIONS: IDD patients undergoing colorectal cancer resection experience increased likelihood of non-elective admission, adverse clinical outcomes, and resource use. Our findings highlight the need for more accessible screening and patient-centered interventions to improve quality of surgical care for this at-risk population.

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15. Rangosch A, Duarte VE, Quiñones MA. Interatrial Septum Assessment by Transthoracic Echocardiography Part 1: Secundum ASD. Methodist Debakey Cardiovasc J;2024;20(1):77-79.

This 10-minute video aims at improving skills for the structural assessment of the interatrial septum using 2-dimensional transthoracic echocardiography (TTE) to increase the ability to diagnose-or rule out-the different types of interatrial communications. Of the five types of lesions, this video focuses on ostium secundum atrial septal defect. This is the first video in our MicroLearning Video Series, designed to help a target audience of sonographers, general cardiologists, general practitioners who want to gain knowledge on fundamental cardiology, and technicians. View the video at https://vimeo.com/989145537/4898c3c590.

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16. Shen J, Liu L, Yang Y, Zhou M, Xu S, Zhang W, Zhang C. Insulin-Like Growth Factor 1 Has the Potential to Be Used as a Diagnostic Tool and Treatment Target for Autism Spectrum Disorders. Cureus;2024 (Jul);16(7):e65393.

Autism spectrum disorder (ASD), a heterogeneous group of neurodevelopmental disorders, is characterized by social impairment and repetitive and stereotypic behaviors. Because of the lack of approved laboratory diagnostic markers and effective therapeutic medications, it is one of the most challenging diseases. Therefore, it is urgent to explore potential diagnosis markers or therapeutic targets. Insulin-like growth factor 1 (IGF-1) is a neurotrophic growth factor that enhances brain development. IGF-1 levels in body fluids are lower in preschool children with ASD than in typically developing children, which may serve as a potential diagnostic marker. In various ASD models associated with genetic or environmental exposure, IGF-1 treatment can improve core symptoms or pathological changes, including neuronal development, neural cell survival, balance of synaptic excitation and inhibition, neuroimmunology, and oxidative stress status. In March 2023 an IGF-1 derivative was approved as the first drug for treating Rett syndrome, an ASD-related neurodevelopmental disorder, to improve fundamental symptoms such as social communication. Thus, in this review, we present accumulating evidence of altered IGF-1 levels in ASD patients and the possible mechanisms, as well as evidence that IGF-1 treatment improves the pathophysiology in various ASD models. IGF-1 has the potential to be an early diagnosis marker and an effective therapeutic for ASD.

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17. Wan L, Wang H, Liang Y, Zhang X, Yao X, Zhu G, Cai J, Liu G, Liu X, Niu Q, Li S, Zhang B, Gao J, Wang J, Shi X, Hu L, Liu X, Zou Z, Yang G. Effect of oral faecal microbiota transplantation intervention for children with autism spectrum disorder: A randomised, double-blind, placebo-controlled trial. Clin Transl Med;2024 (Sep);14(9):e70006.

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18. Wang HC, Feldman DE. Degraded tactile coding in the Cntnap2 mouse model of autism. Cell Rep;2024 (Aug 27);43(8):114612.

Atypical sensory processing is common in autism, but how neural coding is disrupted in sensory cortex is unclear. We evaluate whisker touch coding in L2/3 of somatosensory cortex (S1) in Cntnap2(-/-) mice, which have reduced inhibition. This classically predicts excess pyramidal cell spiking, but this remains controversial, and other deficits may dominate. We find that c-fos expression is elevated in S1 of Cntnap2(-/-) mice under spontaneous activity conditions but is comparable to that of control mice after whisker stimulation, suggesting normal sensory-evoked spike rates. GCaMP8m imaging from L2/3 pyramidal cells shows no excess whisker responsiveness, but it does show multiple signs of degraded somatotopic coding. This includes broadened whisker-tuning curves, a blurred whisker map, and blunted whisker point representations. These disruptions are greater in noisy than in sparse sensory conditions. Tuning instability across days is also substantially elevated in Cntnap2(-/-). Thus, Cntnap2(-/-) mice show no excess sensory-evoked activity, but a degraded and unstable tactile code in S1.

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