Journal of Autism and Developmental Disorders

Despite their relevance to outcomes in autism, little is known about how social drivers of health affect communication, especially in transition-aged autistic adolescents and young adults with structural language impairment. This knowledge gap limits our understanding of developmental trajectories and the ability to develop supports. This cross-sectional study examined the role of social drivers of health in communication abilities of minoritized autistic individuals ages 13 to 30. Participants (N = 73) completed language, nonverbal cognitive assessments, and social drivers of health (sense of community, unmet services, barriers to services) measures. Data were analyzed descriptively and using mixed-effects modeling. More unmet service needs, more barriers to services, and lower sense of community were associated with greater social communication impairment. In turn, both unmet service needs and barriers to services were negatively associated with functional communication. In regression modeling, language scores contributed to functional communication, and sense of community to social communication impairment. Findings support the relevance of language and social drivers of health in communication. Future work should focus on possible bidirectional relationships between these variables and explore and real-world translation. Lay AbstractWhere people live, work, and spend their time is important. Environments can have more or less services or differ in how much they help people feel like they belong to their community. These parts of the environment are called social drivers of health. Social drivers of health are important for outcomes in autism, but we do not know much about them in racially and ethnically minoritized autistic teens or young adults. We recruited 73 minoritized autistic teens and young adults (ages 13 to 30 years) and 52 caregivers to our study. Autistic teens and young adults did language and NVIQ tests on Zoom. Autistic teens, young adults, and caregivers also answered questionnaires. Sense of community was important for social communication impairment, and language was important for real-world communication. These findings tell us two things. First, thinking about how to create supportive communication environments for autistic teens and adults is important. Second, understanding how social drivers of health shape outcomes is important. In the future, we should focus on how improving environments can help minoritized autistic teens and adults meet their communication goals.

BACKGROUNDChildren with autism have a significantly lower quality of life compared with their neurotypical peers. While multiple studies have quantified the impact of autism on health-related quality of life (HRQoL) through standardized surveys such as the PedsQL, none have specifically investigated the impact of syndromic autism spectrum disorder on childrens HRQoL or on family quality of life. Here we evaluate HRQoL in children diagnosed with three syndromic Autism Spectrum Disorders (ASDs): Phelan-McDermid syndrome (PMD), Rett syndrome (RTT), and SYNGAP1-related intellectual disability (SYNGAP1-ID). METHODSA standardized online Pediatric Quality of Life Inventory (PedsQL 4.0) survey and the Beach Center Family Quality of Life Scale (FQOL) were administered to caregivers of children with PMD (n= 213), RTT (n= 148), and SYNGAP1-ID (n= 30). The PedsQL 4.0 measures health-related quality of life in four dimensions: physical, emotional, social and school. The Beach Center Family Quality of Life Scale measures five dimensions: family interaction, parenting, emotional well-being, physical/material well-being and disability-related support. RESULTSFor the PedsQL, the most severely impacted dimension in children with syndromic autism was physical functioning. In comparing individual dimensions among the genetically-defined syndromic autisms, individuals with RTT had significantly worse physical functioning, emotional and school scores than PMD. This finding is congruent with the physical regression typically associated with Rett syndrome. Strikingly, syndromic autism results in worse quality of life than other chronic disorders including idiopathic autism. CONCLUSIONSThe reduced HRQoL for children with syndromic autism spectrum disorders relative to other chronic childhood illnesses, likely reflects their lack of targeted therapies. This study demonstrates the utility of caregiver surveys in prioritizing phenotypes, which may be targeted as clinical endpoints for genetically defined ASDs. CONTRIBUTORS STATEMENTDr. Bolbocean conceptualized and designed the study, designed the data collection instrument, collected data, performed data analysis, wrote and edited the manuscript. Ms. Andujar performed initial data analysis, drafted the initial manuscript and edited the manuscript. Ms. McCormack performed data analysis and edited the manuscript. Dr. Suter conceptualized and designed the study and made critical edits to the manuscript. Dr. Holder conceptualized and designed the study, designed the data collection instrument, performed data analysis, wrote and edited the manuscript. Table of contents summaryIn this study, we determine the impact of genetically-defined syndromic autism spectrum disorders on their health-related quality of life. Whats known on this subjectChildren with neurodevelopmental disorders, including autism, have severely impaired health-related quality of life. Systematic measurement of HRQoL in children with neurodevelopmental disorders through standardized instruments provides a holistic understanding of disease impact and therapeutic endpoint for clinical trials. What this study addsThis study defines the impact of three genetically defined autism spectrum disorders: Rett syndrome, Phelan-McDermid syndrome and SYNGAP1-related Intellectual Disability, on health-related quality of life. We find significantly greater impairment for syndromic ASDs than other neurodevelopmental disorders.

Background: Studies of autistic parenthood have consistently highlighted parents communication with health, education, and social services providers about their child as a source of stress due to stigmatization and discrimination. Our advisory panel suggested that mothers of autistic children might be at risk of unwarranted involvement with social services and unfounded accusations of Fabricated or Induced Illness (FII) i.e., fabricating illness in their child. The current study set out to explore these concerns. Aims: (1) To examine the degree of social service involvement in mothers who have an autistic child; (2) To quantify allegations of FII in mothers who have an autistic child; and (3) To test if either social services involvement or FII allegations varied as a function of whether the mother was herself autistic. Methods: N = 242 mothers of autistic children participated, comprising 3 groups: 101 autistic mothers with a formal diagnosis of autism; 67 mothers who self-identified as autistic; and 74 non-autistic mothers. All mothers completed a survey about involvement with social services and completed the short Autism Spectrum Quotient (AQ-10). All 3 groups were comparable on education, employment and marital status. Results: Over 20% of mothers of autistic children, regardless of maternal diagnosis, reported being investigated by social services for child welfare concerns. We also found that 2.48% (N=6 of N=242) of all mothers, regardless of diagnosis, reported an investigation of FII, and around 5% (N=12 of N=242) reported an allegation or investigation of FII. Conclusions: There is an alarmingly high frequency of social services involvement and allegations of FII in mothers of autistic children. Local authorities should consider having a specialist team conduct needs assessments for autistic children as parent-child dyads affected by autism are a large and growing population of social services users.

Language development, a core pillar of social communication, has variable trajectories in autism that include a regression or loss of skills in roughly 20% of autistic individuals. Language regression is most frequently identified through parent report but can also be observed as a decrease in raw scores on a repeated language assessment (measure-defined). Later language outcomes after regression have been observed to be highly variable, but not lower than children without a language regression. The current study explores rates of parent-reported and measure-defined language regression in a large sample of infants at high familial likelihood of autism due to having an older autistic sibling. Among all participants at high familial likelihood for autism (n=428), parent-reported regression was observed in 2.8% (n=12) and was associated with 2.77 times higher odds of receiving an autism diagnosis. Measure-defined regression was observed in 8% (n=36) and was associated with 1.21 times higher odds of autism diagnosis. These rates of regression are expectedly lower than estimates collected in autistic samples. Neither of these elevated odds was statistically significant and there was low concordance between these groups with only one participant present in both. Nearest-neighbor comparison samples of non-autistic infants at high and low likelihood for autism without language regression were selected to assess differences in language growth trajectories associated with regression. Infants with parent-reported language regression showed comparable language development to a matched high-likelihood sample while infants with measure-defined language regression showed slower overall language development than matched peers. Taken together, our results show that parent-report and direct measurement of regression capture unique aspects of child language development that may not be predictive of an autism diagnosis but may indicate delayed language growth in early toddlerhood. These language outcomes support previous findings of wide heterogeneity among those with regression and continued language growth after loss of skills. Key PointsO_LILanguage regression can be captured through parent-report or decrease in raw scores on repeated language assessment and is reported in approximately 20% of autistic toddlers. C_LIO_LIMost research on language regression uses retrospective report of regression in autistic children, but this study prospectively examines regression in toddlers at high familial likelihood for autism who do and do not receive later diagnoses. C_LIO_LIParent-reported and measure-defined regression in this high-likelihood sample have low concordance indicating that these may be different events in language development. C_LIO_LIThe presence of language regression was not associated with significantly higher odds of receiving an autism diagnosis. C_LIO_LIChildren who exhibit language regression continue growing and developing language and those with parent-reported regression display comparable language skills to children without language regression at three years of age. C_LI

BackgroundEvidence supporting the association between breastfeeding patterns and ASD is inconsistent. This study examined sociodemographic and birth factors related to breastfeeding duration and ASD, compared to a typically developing (TD) cohort, using a data-driven approach based on electronic health and developmental records (EHR). MethodsDemographics, feeding preferences (breastfeeding, bottle or both), breastfeeding duration as reported by parents during routine baby wellness visits, were analyzed for a cohort of 11,766 (1.9%) children with ASD and a random subsample of 12,000 (2.03%) TD children. The designation of ASD versus TD was based on a national ASD registry and assigned after EHR were completed. Pre-term, very low birth weight, multiple births, and infants with complex medical comorbidities were excluded. ResultsInfants with ASD were breastfed for an average of 5.0 months, 1.5 months shorter than TD. Fewer ASD infants were exclusively breastfed in the first year of life. Two-way ANOVAs indicated a significant effect of socioeconomic status (SES) and ASD on breastfeeding duration, and a significant interaction with ASD. Post-hoc comparisons showed that the Low SES ASD and TD groups were breastfed longer than all other groups (p<.001). For the Low-Medium, Medium-High and High SES groups, infants with ASD were breastfed less than TD. ConclusionsShorter breastfeeding duration among ASD was confirmed in this representative cohort, calling for closer monitoring for ASD in infants with breastfeeding difficulties. These challenges were independent of birth parameters; however, influenced by socioeconomic factors.

PurposeThough co-occurring structural language impairment (LI) in autism is common and predicts long-term outcomes, little is known about LI in autism beyond childhood. One challenge to closing this gap is that there is no consensus definition of LI. This study focuses on LI in autistic adolescents and young adults, asking to what extent clinical classification differs by definition and examining performance across language measures, nonverbal intelligence (NVIQ), and autism traits. MethodParticipants (N = 75; ages 13-30) varying in levels of autism traits completed norm-referenced measures of overall expressive language, overall receptive language, receptive vocabulary, expressive vocabulary, nonword repetition, and NVIQ. Scores were compared to epidemiological definitions for LI varying in criteria and cutoffs from -1 SD to -1.5 SD. Data were analyzed using descriptives and clustering. ResultsMore stringent definitions yielded a greater proportion of participants meeting LI criteria, and more stringent cutoffs for LI yielded greater overall consistency in clinical classification across individual language measures, but there was no one-to-one ratio between cutoff and clinical classification. Clustering indicated three profiles differentiated on the basis of language and nonverbal cognitive skills, but each cluster was heterogeneous. Individual performance also varied across language measures. DiscussionFindings support multi-domain approaches to characterizing language skills in autistic adolescents and adults, including those with LI. Future work is needed to understand language skills in autism beyond childhood and how to develop effective assessment practices.

BackgroundThere is evidence that children with autism/autistic traits have higher risks of incontinence and constipation, but no studies have examined this in a large community-based cohort. Aim/Research questionare autistic traits and diagnosed autism prospectively associated with increased odds of incontinence and constipation in children and adolescents? MethodsThis was a population-based cohort study based on data from the Avon Longitudinal Study of Parents and Children (n=4233-4490 at age 9 years; n=3403-3697 at age 14). We used multivariable logistic regression to examine associations of parent-reported autistic traits (sociability, repetitive behaviours, social-communication, coherence) (at ages 3-9 years) and autism with incontinence (bedwetting, daytime-wetting, soiling) and constipation (parent-reported at age 9, self-reported at age 14). We adjusted for parity, maternal age at delivery, childs sex and developmental level, maternal depression, and anxiety (antenatal and postnatal), and indicators of family socioeconomic status. ResultsSocial-communication and speech coherence difficulties showed the strongest associations with incontinence, e.g. adjusted odds ratio (OR) and 95% confidence interval (CI) for the association between social-communication difficulties and daytime-wetting was 2.21 (1.47-3.32) and for coherence was 2.34 (1.60-3.43). The odds of soiling were also higher in children with social-communication (OR:1.88, 95%CI:1.28-2.75) and coherence difficulties (OR:2.04, 95%CI:1.43-2.93). Diagnosed autism was only associated with an increase in the odds of daytime-wetting (OR:3.18, 95%CI:1.44-7.02). At 14 years, there was less evidence of associations between autistic traits and incontinence but there was evidence of associations between autistic traits and constipation: social-communication (OR:1.68, 95%CI:1.13-2.49), coherence difficulties (OR:1.64, 95%CI:1.11-2.41). 5 ConclusionsEarly assessment and treatment of incontinence/constipation should be considered for children with autistic traits.

ObjectivePica has been largely understudied in general population samples. Pica occurs most often in childhood and appears more prevalent in individuals with autism and developmental delays (DD). Pica occurrence in the general population is poorly understood due to few epidemiological studies. MethodData on 10,109 caregivers from the Avon Longitudinal Study of Parents and Children (ALSPAC) study who reported pica behavior at 36, 54, 66, 77, and 115 months on their child were included. Autism was obtained through clinical and education records, while DD was derived from the Denver Developmental Screening Test. ResultsA total of 312 parents reported pica behaviors in their child. Of these, 19.55% reported pica at least at two waves (n=61). Pica was most common at 36 months (N=226; 2.29%) and decreased as children aged. A significant association was found between pica and autism at all five waves (p < .001). There was a significant relationship between pica and DD, with individuals with DD more likely to experience pica than those without DD at 36 (p = .01), and 54 (p < .001), 65 (p=.04), 77 (p <.001), and 115 months (p=.006). Exploratory analyses examined pica behaviors with broader eating difficulties and child body mass index. DiscussionPica is an uncommon behavior in childhood; however, children with DD or autism may benefit from pica screening and diagnosis between ages 36-115 months. Children who exhibit undereating, overeating, and food fussiness may also engage in pica behaviors.

There is a critical lack of exploration into the first-hand experiences of autistic children in the psychological literature. We sought to address this using baseline data from a wider mixed-methods study. 136 autistic children (mean age=10.35) completed an online questionnaire. Questions explored childrens understanding of autism, their feelings about being autistic in different contexts, and challenges experienced. Quantitative data revealed limited autism knowledge and understanding in some. Challenges included talking about being autistic and self-advocating for needs, especially with non-family members. Children generally recognised both strengths and challenges of being autistic, although concerns about feeling/being different were widespread, and masking common. Strikingly, although most children felt positive about being autistic at home, significantly fewer felt this to be true when around peers or teachers. Using reflexive thematic analysis, four main themes were developed: (1) Overwhelming Experiences, (2) Unsafe People, (3) Sanctuary, (4) Autistic Identity. Overall, the children felt safest at home with family and/or with autistic/neurodivergent/understanding friends, but most unsafe at school with their teachers and neurotypical peers, where victimization was rife. These findings offer valuable insights into the lives of autistic children, and demand we explore how places of education can be transformed into safe spaces for autistic children.

BackgroundDespite receiving autism diagnoses in early life, autistic children are not routinely supported to understand these diagnoses post-diagnostically (1). Consequently, they typically grow-up lacking an accurate understanding of what it means to be autistic on both a collective and individual level (2). Without this foundational knowledge, childrens understanding of autism is garnered from how others perceive their autism, resulting in an understanding of autism, and of themselves, that is inherently negative (3). This lack of appreciation of their own individual needs, also denies them the important self-understanding afforded by the diagnosis in the first instance, alongside the opportunity to effectively self-advocate for themselves when these needs go unmet. AimsHere we sought to directly assess the benefit of a pre-recorded, online autistic-led psychoeducation course about autism and the lived experience of being autistic (i.e., NeuroBears https://www.pandasonline.org), for childrens understanding of autism and their autistic experiences, their feeling about being autistic, their communication with others about their autistic experiences, and their confidence to self-advocate for their needs. MethodsUsing a concurrent embedded mixed-methods, repeated-measures design, autistic children (aged 8-14 years), completed a bespoke questionnaire exploring the above topics, both before and after completing NeuroBears at home with a nominated safe adult. A total of 63 children (mean age=10.57 years) completed sufficient content to be included in the analysis. ResultsSignificant benefit was observed across a range of areas, including a significant improvement in the childrens knowledge and understanding of being autistic and of their unique strengths and challenges, a significant rebalancing of how the children viewed being autistic, evidence of emerging positive autistic identities and a growing sense of belongingness, a significant change in the childrens abilities to communicate about being autistic, and evidence of strengthening self-advocacy skills. ConclusionLearning about autism in a neutral and non-stigmatizing manner, and presented through the lens of autistic lived experience, conferred numerous benefits on autistic childrens self-understanding, emergent autistic identity, sense of belonging, and on their communication/self-advocacy skills. Future work is needed to establish the downstream benefits on wellbeing and quality of life.

IntroductionCatatonia is a highly morbid psychomotor and affective disorder which can affect autistic individuals with and without profound impairment. Catatonic symptoms are treatable with pharmacotherapy and electroconvulsive therapy, but the longitudinal effectiveness of these treatments has not been described. MethodsWe conducted a prospective observational cohort study of patients with autism and co-morbid catatonia who received outpatient care in a specialized outpatient clinic from July 1st, 2021 to May 31st, 2024. Data investigating pharmacologic interventions, and clinical measures including the Bush Francis Catatonia Rating Scale (BFCRS), Kanner Catatonia Severity Scale (KCS), Kanner Catatonia Examination (KCE), and Clinical Global Impression - Improvement (CGI-I) were collected. ResultsForty-five patients were identified with 39 (86.7%) meeting criteria for profound autism. All patients received pharmacotherapy. 44 (97.8%) were treated with benzodiazepines with a mean maximal daily dose of 17.4 mg (SD=15.8) lorazepam equivalents. Thirty-five patients (77.8%) required more than one medication class for treatment. Fourteen patients (31.1%) attempted to taper off benzodiazepines during the study period; of these, 5 patients (11.1%) were successfully tapered off, and the remaining 9 (17.8%) discontinued the taper due to a return of catatonic symptoms. Statistically significant improvement was observed across all clinical domains except the KCS. However, the majority remained symptomatic over the study period. ConclusionsDespite clinical improvements while receiving the gold standard for psychopharmacologic management of catatonia, chronic symptoms remained for the majority of catatonia patients over the study period, and few were able to taper and discontinue benzodiazepine treatment. Lay SummaryCatatonia is a condition which can significantly impact the quality of life for autistic individuals with and without profound impairment. Symptoms of catatonia such as aggression and self-injury can improve with treatment. However, over the three-year period of this study, most patients experienced residual symptoms, and few could discontinue psychotropic medication.

BackgroundRacially and ethnically minoritized (minoritized) autistic individuals face intersectional disparities in services access in the transition to adulthood. Our understanding of disparities is limited by systematic exclusion from research and inadequate approaches to characterizing services. To address these gaps and effect advocacy, this study: 1) examined services received, unmet service needs, and barriers in minoritized autistic adolescents and adults, and 2) determined if language, NVIQ, and autism traits predict services when deployed as binary or continuous variables. MethodAcademic and community partners tailored CBPR to a local context. Participants (N = 73, ages 13-30) completed a behavioral assessment protocol. Participants and caregivers provided information on services received, unmet service needs, and barriers to services. Data were analyzed using descriptives and regression. ResultsParticipants received multiple services yet had multiple unmet service needs and barriers. Effects of services differed by approach. Language impairment, but not language scores, predicted receiving more services. High levels of autism traits and autism trait scores predicted more unmet service needs. ImplicationsWhile the number of services and unmet service needs were similar to prior work, differences in individual service variables and effects support attention to heterogeneity. Findings support intersectional approaches to CBPR and autism research. Learning outcomesAfter reading the article, the learner will be able to: 1) summarize knowledge gaps about access to services; 2) explain the relevance of tailoring CBPR to a local context; and 3) describe implications of findings for clinicians and autistic individuals.

PurposeThe objectives of this study were to investigate associations between co-occurring developmental, psychiatric, behavioral, and medical symptoms and conditions and autism spectrum disorder (ASD) traits, as well as predictors of changes in autistic traits from early childhood to adolescence. MethodsParticipants from the Study to Explore Early Development (SEED) were identified as having autism spectrum disorder (ASD) (n=707), another developmental disorder (DD) (n=995), or as a population comparison group (POP) (n=898). Caregivers completed the Social Responsiveness Scale-2nd edition (SRS-2) to measure autistic traits and were asked about co-occurring symptoms and conditions when their child was 2-5 years old and 12-16 years old. Children completed the Mullen Scales of Early Learning (MSEL) when they were 2-5 years old. ResultsRegression models revealed that in early childhood and adolescence, multiple co-occurring symptoms and conditions were significantly associated with higher SRS-2 scores (e.g., motor, sensory, and sleep problems for children with ASD and DD). Within the ASD and DD groups, but not the POP group, lower MSEL scores at childhood were associated with greater increases in SRS-2 scores between early childhood and adolescence. ConclusionsFindings suggest that motor, sensory, and sleep problems may be important intervention targets for ASD and DD youth with elevated SRS-2 scores and that interventions that target cognitive functioning in childhood may be important to modify trajectories of autistic traits from childhood to adolescence.

Aimto evaluate if autism symptoms and diagnoses are raised in children with neurofibromatosis type 1 (NF1), to which levels, and to determine if co-occurring symptomatology accounts for this elevation. MethodWe interrogated our hospital electronic medical records. We collected parental reports of autism symptomatology, adaptive behavior, and co-occurring behavioral and emotional problems on a subsample of 45 children (9 years 2 months, 49% male). Age- and sex-matched controls with (N=180) or without ASD (N=180) were drawn from the Simons Simplex Collection and compared cross-sectionally to participants with NF1. ResultsDiagnoses of ADHD (8.8%), not of ASD (2.1%), were raised among 968 children with NF1 identified through electronic search. Mean Social Responsiveness Score (55.9) was below the cut-off of 60 for significant autism symptoms. Participants with NF1 had significantly more autism and behavioral symptoms than typically developing (TD) controls, and significantly less than controls with autism, with one exception: ADHD symptom levels were similar to those of autistic controls. When emotional, ADHD, and communication scores were covaried, the difference between participants with NF1 and TD controls disappeared almost entirely. InterpretationOur results do not support an association between NF1 and autism, both at the symptom and disorder levels. What this paper addsO_LIDiagnoses of ADHD, not of ASD, were raised among children with NF1. C_LIO_LIIncreases in autism symptoms did not reach clinically significant thresholds. C_LIO_LICo-occurring ADHD symptoms accounted for increased autism questionnaire scores. C_LIO_LIAdaptive behavior in NF1 participants showed normal socialization but lower communication proficiency. C_LI

In many countries, autistic children are placed in either exclusive special education or inclusive mainstream preschool settings following diagnosis. These settings differ in their staff composition and expertise, ability to implement structured autism interventions, ability to integrate autistic and typically developing children, and costs. Here, we examined whether there were significant differences in the behavioral abilities and developmental difficulties of children placed in either setting in Israel. We analyzed data from 165 autistic children, 120 in special and 45 in mainstream education, who completed comprehensive behavioral assessments at a mean age of 37.8 months, as they entered their first preschool setting. Children placed in special education exhibited significantly poorer cognitive abilities and higher irritability and hyperactivity than children in mainstream education while there were no significant differences in autism severity or adaptive behaviors across groups. Moreover, cognitive and irritability scores were sufficient for classifying children across the two settings when using a pruned decision tree algorithm and a 5-fold cross-validation procedure. These findings extend previous research by demonstrating that cognitive abilities and irritability are the strongest predictors of initial educational placement. Further longitudinal research is needed to determine whether these placement decisions benefit the children as they develop.

BackgroundThere is a growing recognition of sex and gender influences in autism. Increasingly, studies include comparisons between sexes or genders, but few have focused on clarifying the characteristics of autistic girls and womens physical health. MethodsA scoping review was conducted to determine what is currently known about the physical health of autistic girls and women. We screened 1,112 unique articles, with 40 studies meeting the inclusion criteria. We used a convergent iterative process to synthesize this content into broad thematic areas. ResultsOverall, autistic girls and women experience more physical health challenges compared to non-autistic girls and women, and to autistic boys and men. Preliminary evidence suggests increased neurological conditions (e.g., epilepsy) in autistic girls and women compared to autistic boys and men. As well, the literature suggests increased endocrine/reproductive conditions in autistic girls and women compared to non-autistic girls and women. LimitationsThe literature has substantial heterogeneity in how physical health conditions were assessed and reported. Further, our explicit focus on physical health may have constrained the ability to examine potential interactions between mental and physical health. In addition, the widely differing research aims and methodologies make it difficult to reach definitive conclusions. Nevertheless, in keeping with the goals of a scoping review, we were able to identify key themes to guide future research. ConclusionsEmerging themes in the literature suggest that autistic girls and women have heightened rates of physical health challenges compared to autistic boys and men, and non-autistic girls and women. Clinicians should seek to provide holistic care for this population that includes a focus on physical health and recognizes that autistic girls and women have co-occurring conditions that differ from those of autistic boys and men.

This study comprehensively examines maternal and perinatal conditions associated with autism spectrum disorder (ASD) in a total population sample with individually confirmed diagnoses from South Sweden. Following thorough review of medical records, 996 cases were ascertained and classified based on level of intellectual disability, ASD severity and family-history of ASD. 10 controls per case were randomly selected from the population (N=9,960). Multiple maternal and perinatal conditions were associated with increased risk for ASD, but associations varied by ASD comorbid conditions. Only high maternal BMI was associated with ASD risk across all ASD sub-groups. Results suggest differences in ASD etiology by comorbid subgroups and highlight potential modifiable risk factors.

BackgroundMost preschool autistic children exhibit substantial language delays, yet only [~]25% remain minimally verbal (MV) throughout life. Previous studies have demonstrated that development of expressive language abilities is crucial for improving long-term outcomes. This study aimed to identify early predictors of later expressive language development specifically in MV preschool autistic children. MethodsWe analyzed prospective data collected from 99 MV autistic children, who were 27.7 months old at diagnosis, on average. All children completed an ADOS-2 assessment at diagnosis and again 12-24 months later. We classified children into three expressive language groups at follow up: MV, one-word phase, and phrases phase. Logistic regression analyses were used to identify significant predictors of expressive language abilities at follow up. Predictors included ADOS-2 social affect (SA) calibrated severity scores (CSS), ADOS-2 restricted and repetitive behavior (RRB) CSS, cognitive scores, and joint attention (JA) scores, derived from a summation of six ADOS-2 items. ResultsChildren who successfully developed expressive language abilities at follow-up (i.e., were in the one-word or phrases groups) had significantly lower ADOS-2 SA CSS and JA scores at diagnosis. Logistic regression analyses demonstrated that both ADOS-2 SA CSS and JA scores at diagnosis predicted expressive language outcomes while cognitive scores and ADOS-2 RRB CSS did not. Moreover, concurrent improvements in JA were significantly larger in children who developed expressive language. ConclusionsPreschool MV autistic children with better social abilities, and specifically JA abilities, at diagnosis were more likely to develop expressive language within 1-2 years. JA scores derived from the ADOS-2 offer an easily accessible and widely available measure with important prognostic value for these children.

Individuals with autism spectrum disorders (ASD) experience a significant number of co-occurring medical conditions, yet little is known about these conditions beyond prevalence. We hypothesized that individuals with ASD experienced an increased burden of co-occurring conditions as measured by presence, frequency, and duration of visits related to co-occurring conditions. We expected that age of ASD diagnosis (early, <7; late, >7) would be associated with different co-occurring conditions. Medical record data were extracted from a large anonymized medical center database for 3097 individuals with ASD and 3097 matched controls. Co-occurring conditions were characterized using a novel tool (pyPheWAS) to examine presence, frequency, and duration of each condition. We identified several categories of co-occurring conditions in ASD: neurological (epilepsy, sleep disorders); psychiatric (mood disorders, adjustment/conduct disorders, suicidal ideation), and developmental. Early ASD diagnosis was associated with epilepsy-related conditions, whereas a later diagnosis was associated with psychiatric conditions. The early ASD diagnosis group had later first diagnosis of co-occurring psychiatric conditions compared to the late ASD diagnosis group. Our work confirms individuals with ASD are under a significant medical burden, with increased duration and frequency of visits associated with co-occurring conditions. Adequate management of these conditions could reduce burden on individuals with ASD.

The effect of pretend play in 2 to 5-year-old children with ASD was investigated in the largest and the longest observational study to-date. Parents assessed the development of 7,069 children quarterly for three years on five subscales: combinatorial receptive language, expressive language, sociability, sensory awareness, and health. Pretend play was associated with superior developmental trajectories: 1.9-fold faster improvement of combinatorial receptive language (p<0.0001), 1.4-fold faster improvement of expressive language (p<0.0001), and 1.3-fold faster improvement of sensory awareness (p=0.0009). Pretend play had little effect on sociability and health. The strong association of pretend play with combinatorial receptive language remained significant even when controlling for expressive language. Similarly, the effect of pretend play on expressive language remained significant even when controlling for combinatorial receptive language. The effect of pretend play on combinatorial receptive language (but not on the expressive language) was stronger than the effects of seizures, sleep problems or high-TV exposure. The strong effect of pretend-play supports earlier studies indicating that it is an important stepping stone for language acquisition, particularly, the acquisition of combinatorial language.