1. Cui T, Zhang J, Han Y, Su Y, Li Z, Zhang X. Sensory sensitivity and intelligence are correlated with nutrient deficiency in children with autism spectrum disorder and intellectual disability. European journal of clinical nutrition. 2023.

BACKGROUND/OBJECTIVES: Relationship between dietary intake and sensory sensitivity and intelligence in autism spectrum disorder (ASD) is not well described. This study aims to investigate nutrition status in children with ASD and ID and its association with sensory sensitivity and intelligence. SUBJECTS/METHODS: 84 students (34 ASD and 48 ID) in a special education school were recruited. Dietary intakes were evaluated with 3-day food dairy. Sensory sensitivity was measured using short sensory profile (SSP). Wechsler IQ test were performed. RESULTS: Two out of twenty-four investigated nutrients had an adequate intake rate of over 50%. Four out of ten investigated vitamins had an inadequate intake rate of over 90% and another two over 80%. 75.6% of participants had inadequate energy intake. After adjusting for age, ASD participants had a higher intake of all surveyed nutrients but only the intake of vitamin E and folate were statistically different (p < 0.05) along with a smaller number of inadequate nutrients (p < 0.001). Taste/smell sensitivity, movement sensitivity, underresponsive/seeks sensation, and total sensory sensitivity symptoms severity were slightly higher in ASD group than in ID group (all p < 0.05). After adjusting for IQ and sensory sensitivity score, difference of number of inadequate nutrients between ASD and ID group were not statistically significant (p = 0.193). CONCLUSIONS: Individuals with ASD had better dietary intake but worse sensory sensitivity compared to those with ID. Sensory sensitivity and intelligence are correlated with nutritional status in individuals with neurodevelopmental disorder.

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2. da Silva CP, Camuzi D, Reis AHD, Gonçalves AP, Dos Santos JM, Machado FB, Medina-Acosta E, Soares-Lima SC, Santos-Rebouças CB. Identification of a novel epigenetic marker for typical and mosaic presentations of fragile X syndrome. Expert review of molecular diagnostics. 2023.

BACKGROUND: Fragile X syndrome (FXS) is primarily due to CGG repeat expansions in the FMR1 gene. FMR1 alleles are classified as normal (N), intermediate (I), premutation (PM), and full mutation (FM). FXS patients often carry an FM, but size mosaicism can occur. Additionally, loss of methylation boundary upstream of repeats results in de novo methylation spreading to FMR1 promoter in FXS patients. RESEARCH DESIGN AND METHODS: This pilot study investigated the methylation boundary and adjacent regions in 66 males with typical and atypical FXS aged 1 to 30 years (10.86 ± 6.48 years). AmplideX FMR1 mPCR kit was used to discriminate allele profiles and methylation levels. CpG sites were assessed by pyrosequencing. RESULTS: 0 out of 66 FXS patients (60.6%) showed an exclusive FM (n = 40), whereas the remaining (n = 26) exhibited size mosaicism [10 PM_FM (15.15%); 10 N_FM (15.15%); 2 N_PM_FM (3%)]. Four patients (6.1%) had deletions near repeats. Noteworthy, a CpG within FMR1 intron 2 displayed hypomethylation in FXS patients and hypermethylation in controls, demonstrating remarkable specificity, sensitivity, and accuracy when a methylation threshold of 69.5% was applied. CONCLUSIONS: Since intragenic methylation is pivotal in gene regulation, the intronic CpG might be a novel epigenetic biomarker for FXS diagnosis.

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3. Ikeda A, Hakuno Y, Asada K, Ikeda T, Yamagata T, Hirai M. Development of emotion comprehension in children with autism spectrum disorder and Williams syndrome. Autism research : official journal of the International Society for Autism Research. 2023.

Although research has shed light on the development of emotion comprehension in typically developing children, little is known about emotion comprehension in children who are developing atypically. Thus, this study examined the developmental trajectory of emotion understanding in non-clinical (NC) children and children with autism spectrum disorder (ASD) and Williams syndrome (WS) using a Test of Emotion Comprehension. In the test, we measured children’s understanding of (I) recognition of emotions based on facial expressions, (II) external causes of emotions, (III) desire-based emotions, (IV) belief-based emotions, (V) the influence of a reminder on a present emotional state, (VI) regulating an experienced emotion, (VII) hiding an emotional state, (VIII) mixed emotions, and (IX) moral emotions. A Bayesian modeling approach was applied to compare the developmental trajectories of emotion understanding across the syndrome groups. The results revealed that NC children and children with WS followed significantly different developmental trajectories in specific aspects of emotion understanding, while children with ASD followed a very similar path to NC children. Children with ASD and NC children gradually developed an understanding of each component of emotion comprehension as they matured. However, the understanding of some components, such as desire-based emotions, hiding an emotional state, and moral emotions, in children with WS was affected by their Autism Spectrum Quotient scores. This is one of the first cross-syndrome studies to assess the development of emotion comprehension in children with ASD and WS, providing important insights for understanding the nature of disability and advancing the development of intervention programs.

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4. Karnik A, Malhi G, Ho T, Riffle S, Keller K, Kim SJ. Factors Associated with Pre-Research Recruitment in Autism and Related Developmental Disorders. Journal of autism and developmental disorders. 2023.

PURPOSE: Access to research programs and increased diversity in research enrollment may be key to improving diverse populations’ health and healthcare outcomes. To facilitate research recruitment, a Research Registry (« Registry »), a pre-recruitment database, was developed at an urban tertiary Autism Center (« Autism Center »). In this study, we examined whether disparities in research participation occur in the pre-research recruitment (pre-recruitment) stage. METHODS: We compared demographic factors of patients seen at the Autism Center (but not enrolled in the Registry) vs. patients enrolled in the Registry. We also examined whether demographic factors differ among the Registry participants who were enrolled in the Registry by signing an informed consent form (ICF) vs. by returning a research interest form (RIF). RESULTS: A total of 18,522 patients (including 1092 patients in the Registry with 403 patients via ICF and 689 patients via RIF) were included in this study. English as the primary language, White race, Non-Hispanic ethnicity, and younger age at their first clinic encounter were associated with the Registry. In the Registry sample, the RIF group had a higher proportion of non-English as a primary language, Medicaid insurance, longer distance from the Autism Center, and lower median household income (based on their ZIP code) than the ICF group. CONCLUSIONS: This study suggests that disparities may have existed in the pre-research recruitment stage. To achieve equity in both clinical and research advancements in autism and related developmental disorders, further efforts are needed to equitably disseminate research opportunities to patients of diverse backgrounds.

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5. Lai MC, Amestoy A, Bishop S, Brown HM, Giwa Onaiwu M, Halladay A, Harrop C, Hotez E, Huerta M, Kelly A, Miller D, Nordahl CW, Ratto AB, Saulnier C, Siper PM, Sohl K, Zwaigenbaum L, Goldman S. Improving autism identification and support for individuals assigned female at birth: clinical suggestions and research priorities. The Lancet Child & adolescent health. 2023; 7(12): 897-908.

Emerging evidence suggests that the higher prevalence of autism in individuals who are assigned male than assigned female at birth results from both biological factors and identification biases. Autistic individuals who are assigned female at birth (AFAB) and those who are gender diverse experience health disparities and clinical inequity, including late or missed diagnosis and inadequate support. In this Viewpoint, an international panel of clinicians, scientists, and community members with lived experiences of autism reviewed the challenges in identifying autism in individuals who are AFAB and proposed clinical and research directions to promote the health, development, and wellbeing of autistic AFAB individuals. The recognition challenges stem from the interplay between cognitive differences and nuanced or different presentations of autism in some AFAB individuals; expectancy, gender-related, and autism-related biases held by clinicians; and social determinants. We recommend that professional development for clinicians be supported by health-care systems, professional societies, and governing bodies to improve equitable access to assessment and earlier identification of autism in AFAB individuals. Autistic AFAB individuals should receive tailored support in education, identity development, health care, and social and professional sense of belonging.

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6. Lebeña A, Faresjö Å, Faresjö T, Ludvigsson J. Clinical implications of ADHD, ASD, and their co-occurrence in early adulthood-the prospective ABIS-study. BMC psychiatry. 2023; 23(1): 851.

BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are childhood-onset disorders associated with functional and psychosocial impairments that may persist into adulthood, leading to serious personal and societal costs. OBJECTIVE: This study aimed to examine the socio-economic difficulties, physical and mental comorbidities, and psycho-social vulnerabilities associated with ADHD, ASD, and their co-occurrence among young adults. METHODS: 16 365 families with children born 1997-1999, were involved in the prospective population-based ABIS study (All Babies in Southeast Sweden). A total of 6 233 ABIS young adults answered the questionnaire at the 17-19-year follow-up and were included in this case-control study. Diagnoses of ADHD and ASD from birth up to 17 years of age were obtained from the Swedish National Diagnosis Register. N=182 individuals received a single diagnosis of ADHD, n=78 of ASD, and n=51 received both diagnoses and were considered the co-occurrence group. Multiple multinomial logistic regression analyses were performed. RESULTS: In the univariate analyses all three conditions were significantly associated with concentration difficulties, worse health quality, lower socio-economic status, lower faith in the future, less control over life, and lower social support. In the adjusted analyses, individuals with ADHD were almost three-times more likely to have less money compared with their friends (aOR 2.86; p < .001), experienced worse sleep quality (aOR 1.50; p = .043) and concentration difficulties (aOR 1.96; p < .001). ASD group were two-fold more likely to experience concentration difficulties (aOR 2.35; p = .002) and tended not to have faith in the future (aOR .63; p = .055), however, showed lesser risk-taking bahaviours (aOR .40; p < .001). Finally, the co-occurrence was significantly associated with unemployment (aOR 2.64; p = .007) and tended to have a higher risk of autoimmune disorders (aOR 2.41; p = .051), however, showed a 51% lower risk of stomach pain (aOR .49; p = .030). CONCLUSIONS: All these conditions significantly deteriorated several areas of life. ADHD/ASD co-occurrence is a heavy burden for health associated with several psychosocial vulnerabilities, that shared a similar morbidity pattern with ADHD although showed less risk cognitive and behavioral profile, similar to the ASD group. Long-term follow-up and support for individuals with these conditions over the life course are crucial.

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7. Lopes DC, Mendes LST, Ferreira ICH. Autism spectrum disorder in a patient with Nicolaides-Baraitser Syndrome: case report. Einstein (Sao Paulo, Brazil). 2023; 21: eRC0480.

Nicolaides-Baraitser Syndrome is a rare genetic condition that clinically presents with intellectual disabilities, facial and bone changes, and sparse hair. In Brazil, only one case has been previously reported without genetic confirmation. We present the case of an 8-year-old boy, clinically and genetically diagnosed with Nicolaides-Baraitser Syndrome, who developed autism spectrum disorder characteristics with a formal diagnosis at the age of eight. Diagnosing autism spectrum disorder in patients with intellectual disabilities is a clinical challenge requiring careful evaluation.

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8. López-Ibor MI. RETRACT ARTICLE: SOCIAL COGNITION INTERVENTIONS FOR ADOLESCENTS WITH AUTISM SPECTRUM DISORDER. A SYSTEMATIC REVIEW. Actas espanolas de psiquiatria. 2023; 51(4): 1.

With the commitment to maintain the highest levels of quality, the editorial committee has decided to retract the article.

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9. Luermans J, Fleming J, O’Shea R, Barlow-Stewart K, Palmer EE, Leffler M. « We are not a typical family anymore »: Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia. American journal of medical genetics Part A. 2023.

A diagnosis of the X-linked condition Fragile X syndrome (FXS) in a child commonly reveals the mother’s carrier status. Previous research focused on the genetic counseling process for the child and maternal family, despite calls for more research on the support needs of fathers. This study explored experiences and support needs of fathers at least 1 year after their child’s FXS diagnosis to understand barriers and enablers and optimize health outcomes for the family. In-depth interviews were conducted with 11 fathers recruited through the Australian Genetics of Learning Disability Service and the Fragile X Association. Deidentified transcripts were analyzed using thematic analysis guided by an inductive approach. Four themes emerged: (1) making life easier through understanding-yesterday and today, (2) the path to a new normal-today and tomorrow, (3) seeking information and support, and (4) what men want. Fathers reported diagnostic odysseys, postdiagnostic grief, and challenges adjusting. They highlighted difficulties in understanding their child’s unique behaviors and needs, responding to their partner’s psychological support needs, planning for their child’s future, and navigating complex health and disability systems. Participants suggested health professionals facilitate father-to-father support and psychological counseling. These findings highlight the unmet needs of fathers and suggest that a strengths-based approach is critically important given the recognized mental health impact.

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10. Maier S, Nickel K, Lange T, Oeltzschner G, Dacko M, Endres D, Runge K, Schumann A, Domschke K, Rousos M, Tebartz van Elst L. Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study. Molecular autism. 2023; 14(1): 44.

INTRODUCTION: Autism spectrum disorder (ASD) encompasses a heterogeneous group with varied phenotypes and etiologies. Identifying pathogenic subgroups could facilitate targeted treatments. One promising avenue is investigating energy metabolism, as mitochondrial dysfunction has been implicated in a subgroup of ASD. Lactate, an indicator of energy metabolic anomalies, may serve as a potential biomarker for this subgroup. This study aimed to examine cerebral lactate (Lac+) levels in high-functioning adults with ASD, hypothesizing elevated mean Lac+ concentrations in contrast to neurotypical controls (NTCs). MATERIALS AND METHODS: Magnetic resonance spectroscopy (MRS) was used to study cerebral Lac+ in 71 adults with ASD and NTC, focusing on the posterior cingulate cortex (PCC). After quality control, 64 ASD and 58 NTC participants remained. Lac+ levels two standard deviations above the mean of the control group were considered elevated. RESULTS: Mean PCC Lac+ levels were significantly higher in the ASD group than in the NTC group (p = 0.028; Cohen’s d = 0.404), and 9.4% of the ASD group had elevated levels as compared to 0% of the NTCs (p = 0.029). No significant correlation was found between blood serum lactate levels and MRS-derived Lac+ levels. LIMITATIONS: A cautious interpretation of our results is warranted due to a p value of 0.028. In addition, a higher than anticipated proportion of data sets had to be excluded due to poor spectral quality. CONCLUSION: This study confirms the presence of elevated cerebral Lac+ levels in a subgroup of adults with ASD, suggesting the potential of lactate as a biomarker for mitochondrial dysfunction in a subgroup of ASD. The lower-than-expected prevalence (20% was expected) and moderate increase require further investigation to elucidate the underlying mechanisms and relationships with mitochondrial function.

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11. May DM, Neul J, Piña-Garza JE, Kponee-Shovein K, Satija A, Mahendran M, Downes N, Sheng K, Lema N, Boca A, Lefebvre P, Abler V, Youakim JM, Cheng WY. Gastrointestinal manifestations in pediatric and adult patients with Rett syndrome: an analysis of US claims and physician survey data. Journal of comparative effectiveness research. 2023: e230054.

Aim: Patients with Rett syndrome (RTT) experience gastrointestinal (GI) manifestations. This study aimed to describe the prevalence of GI manifestations and the associated medical costs in patients with RTT in the USA. Patients & Methods: The study combined an insurance claims database analysis with a survey of 100 physicians experienced in RTT management. Results: GI manifestations affected 43.0% of 5940 patients, with increased prevalence in pediatric patients (45.6%) relative to adult patients (40.2%). Annualized mean medical cost of managing GI manifestations was $4473. Only 5.9-8.2% of neurologists and pediatricians ranked GI symptom management among the five most important treatment goals. Conclusion: Patients with RTT experience a high burden of GI manifestations, which translate to considerable medical costs. Importantly, the prevalence of GI manifestations was likely underestimated in this study, as only those symptoms which resulted in a healthcare encounter were captured.

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12. Morgan J. Conversations on what it means to be AFAB and autistic. The Lancet Child & adolescent health. 2023; 7(12): 824-5.

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13. Peirone AR, Ledesma F, Contreras AE, Cabrera M. Percutaneous closure of complex atrial septal defects implanting two devices: initial experience with pfm Nit Occlud(®) ASD-R and PFO devices. Archivos de cardiologia de Mexico. 2023; 93(4): 511-5.

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14. Ponzo S, May M, Tamayo-Elizalde M, Bailey K, Shand AJ, Bamford R, Multmeier J, Griessel I, Szulyovszky B, Blakey W, Valentine S, Plans D. App Characteristics and Accuracy Metrics of Available Digital Biomarkers for Autism: Scoping Review. JMIR mHealth and uHealth. 2023; 11: e52377.

BACKGROUND: Diagnostic delays in autism are common, with the time to diagnosis being up to 3 years from the onset of symptoms. Such delays have a proven detrimental effect on individuals and families going through the process. Digital health products, such as mobile apps, can help close this gap due to their scalability and ease of access. Further, mobile apps offer the opportunity to make the diagnostic process faster and more accurate by providing additional and timely information to clinicians undergoing autism assessments. OBJECTIVE: The aim of this scoping review was to synthesize the available evidence about digital biomarker tools to aid clinicians, researchers in the autism field, and end users in making decisions as to their adoption within clinical and research settings. METHODS: We conducted a structured literature search on databases and search engines to identify peer-reviewed studies and regulatory submissions that describe app characteristics, validation study details, and accuracy and validity metrics of commercial and research digital biomarker apps aimed at aiding the diagnosis of autism. RESULTS: We identified 4 studies evaluating 4 products: 1 commercial and 3 research apps. The accuracy of the identified apps varied between 28% and 80.6%. Sensitivity and specificity also varied, ranging from 51.6% to 81.6% and 18.5% to 80.5%, respectively. Positive predictive value ranged from 20.3% to 76.6%, and negative predictive value fluctuated between 48.7% and 97.4%. Further, we found a lack of details around participants’ demographics and, where these were reported, important imbalances in sex and ethnicity in the studies evaluating such products. Finally, evaluation methods as well as accuracy and validity metrics of available tools were not clearly reported in some cases and varied greatly across studies. Different comparators were also used, with some studies validating their tools against the Diagnostic and Statistical Manual of Mental Disorders criteria and others through self-reported measures. Further, while in most cases, 2 classes were used for algorithm validation purposes, 1 of the studies reported a third category (indeterminate). These discrepancies substantially impact the comparability and generalizability of the results, thus highlighting the need for standardized validation processes and the reporting of findings. CONCLUSIONS: Despite their popularity, systematic evaluations and syntheses of the current state of the art of digital health products are lacking. Standardized and transparent evaluations of digital health tools in diverse populations are needed to assess their real-world usability and validity, as well as help researchers, clinicians, and end users safely adopt novel tools within clinical and research practices.

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15. Smith LM, Yurkovic-Harding J, Carver LJ. Multimodal pathways to joint attention in infants with a familial history of autism. Developmental cognitive neuroscience. 2023; 64: 101325.

Joint attention (JA) is an early-developing behavior that allows caregivers and infants to share focus on an object. Deficits in JA, as measured through face-following pathways, are a defining feature of autism spectrum disorder (ASD) and are observable as early as 12 months of age in infants later diagnosed with ASD. However, recent evidence suggests that JA may be achieved through hand-following pathways by children with and without ASD. Development of JA through multimodal pathways has yet to be studied in infants with an increased likelihood of developing ASD. The current study investigated how 6-, 9- and 12-month-old infants with (FH+) and without (FH-) a family history of ASD engaged in JA. Parent-infant dyads played at home while we recorded the interaction over Zoom and later offline coded for hand movements and gaze. FH+ and FH- infants spent similar amounts of time in JA with their parents, but the cues available before JA were different. Parents of FH+ infants did more work to establish JA and used more face-following than hand-following pathways compared to parents of FH- infants, likely reflecting differences in infant motor or social behavior. These results suggest that early motor differences between FH+ and FH- infants may cascade into differences in social coordination.

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16. Torralbas-Ortega J, Roca J, Coelho-Martinho R, Orozko Z, Sanromà-Ortiz M, Valls-Ibáñez V. Affectivity, sexuality, and autism spectrum disorder: qualitative analysis of the experiences of autistic young adults and their families. BMC psychiatry. 2023; 23(1): 858.

BACKGROUND: Autistic people have communication, sensorial, and social difficulties, which on many occasions, make their adaptation on the sexual and affective levels difficult. For this reason, it is important to know the opinion of individuals with autism spectrum disorders (ASD) and their families, to offer this perspective to professionals to facilitate adapted health education programs in mental health units. METHODS: This qualitative descriptive design presents the experiences of autistic individuals and their families in relation to the affective-sexual experiences from individual, family, and social perspectives. Two focus group sessions were held with eight family members and seven individual semi-structured interviews with autistic young adults. The transcripts were qualitatively analysed using content analysis. RESULTS: Four themes (Family and social dynamic; Social behaviour of the autistic individual; Affective-sexual relationships; Addressing affective and sex education) and 13 related categories emerged from these results. Communication and social interaction problems act as barriers for young adults when developing affective-sexual relationships, leading to the emergence of negative feelings and experiences that reinforce avoidance behaviours, further intensifying their difficulties in interacting with others. Families, especially mothers, exhibit a poor perception of their ability to provide affective-sexual guidance, leading to anxiety and frustration. There are also reports of poor sex education and lack of support systems. CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: The experiences of young people and their families are sometimes conflicting when it comes to affectivity and sexuality, but the parental role emerges as relevant in the sex education process. Families play a pivotal role in sex education, which is why professionals should provide them with support and information through health education programmes, foster empathetic communication and promote sexual and emotional development that is adapted to the characteristics and interests of autistic people.

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17. Vinter LP, Dillon G, Winder B, Harper CA. A Multi-Perspective Qualitative Study About Working With Autistic Individuals in Prison-Based Interventions to Address Sexual Offending. Sexual abuse : a journal of research and treatment. 2023: 10790632231216701.

Research suggests that sexual offending is one of the more common forms of offending behaviour committed by autistic individuals. Despite this, very little research has investigated approaches to rehabilitation for autistic individuals who have sexually offended. The small body of literature that does exist suggests that interventions to address sexual offending may not be sufficiently adapted for this group. In this paper we present an exploratory qualitative study that (i) explores how prison-based interventions to address sexual offending are experienced by autistic individuals with sexual offense convictions and the staff who work with them, and (ii) identifies and explores the features of prison-based sexual offending interventions that may be challenging or beneficial for autistic individuals, from the perspective of those involved in treatment. Semi-structured interviews were conducted with 12 autistic men serving prison sentences for sexual convictions, and 13 members of prison staff. A multi-perspective phenomenologically-informed thematic (MPT) analysis identified three themes of ‘Feeling overwhelmed’, ‘Out of the comfort zone’, and ‘(Dis)connected to others’. These themes highlight some of the key issues relating to the format and delivery of interventions, as well as the impact of the broader prison context on rehabilitation.

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