Language Assessment and Development in Toddlers with Autism Spectrum Disorders

The intersection of autism spectrum disorder and intellectual disability

Within cohorts of children with autism spectrum disorder (ASD) there is considerable variation in terms of language ability. In the past, it was believed that children with ASD either had delayed articulation and phonology skills or excelled in those areas compared to other language domains. Very little is known about speech sound ability in relation to language ability and non-verbal ability in Swedish preschool children with ASD. The current study aimed to describe language variation in a group of 4-6-year-old children with ASD, focusing on in-depth analyses of speech sound error patterns with and without non-phonological language disorder and concomitant non-verbal delays. We examined and analysed the speech sound skills (including consonant inventory, percentage of correct consonants and speech sound error patterns) in relation to receptive language skills in a sample of preschool children who had screened positive for ASD in a population-based screening at 2.5 years of age. Seventy-three children diagnosed with ASD participated and were divided into subgroups based on their receptive language (i.e., non-phonological language) and non-verbal abilities. The subgroup division revealed that 29 children (40%) had language delay/disorder without concurrent non-verbal general cognitive delay (ALD), 27 children (37%) had language delay/disorder with non-verbal general cognitive delay (AGD), and 17 children (23%) had language and non-verbal abilities within the normal range (ALN). Results revealed that children with ALD and children with AGD both had atypical speech sound error patterns significantly more often than the children with ALN. This study showed that many children who had screened positive for ASD before age 3 years - with or without non-verbal general cognitive delays - had deficits in language as well as in speech sound ability. However, individual differences were considerable. Our results point to speech sound error patterns as a potential clinical marker for language problems (disorder/delay) in preschool children with ASD. What is already known on the subject Children with autism spectrum disorder (ASD) have deficits in social communication, restricted interests and repetitive behaviour. They show very considerable variation in both receptive and expressive language abilities. Previously, articulation and phonology were viewed as either delayed in children with ASD or superior compared with other (non-phonological) language domains. What this paper adds to existing knowledge Children with ASD and language disorders also have problems with speech sound error patterns. What are the potential or actual clinical implications of this work? About 75% of children with ASD experience language delays/disorders, as well as speech sound problems, related to speech sound error patterns. Understanding/acknowledging these phonological patterns and their implications can help in the diagnosis and intervention of speech sound disorders in children with ASD. Direct intervention targeting phonology might lead to language gains, but more research is needed.

Autism spectrum disorder (ASD) is common in Down syndrome (DS). There are no standardised screening/assessment tools for evaluating ASD in DS. We utilised a novel validated questionnaire, the ND-PROM, to investigate differences in developmental skills and behaviours among children with DS only, ASD only and DS + ASD. Data analysis using ANOVA tests and post hoc t-tests revealed item-level differences between groups in domains specific to ASD (nonverbal communication, social-emotional understanding, social interaction, independent play, restrictive and repetitive behaviours and interests and sensory processes) and not specific to ASD (expressive language, receptive language, adaptive/toileting, challenging behaviours, mental health and impulse/ADHD). ASD-specific symptoms best distinguished DS only and DS + ASD groups, while non-ASD symptoms best distinguished ASD only and DS + ASD groups. Items that best differentiate groups are presented.

Neurodevelopmental Trajectory During Infancy and Diagnosis of Autism Spectrum Disorder as an Outcome at 32 Months of Age.

* Abbreviations: ASD — : autism spectrum disorder AA — : African American Significant racial inequities exist in access to services for youth with autism spectrum disorder (ASD). Multiracial children are diagnosed with ASD later than their white counterparts, report difficulty accessing treatment services, and ultimately experience worse health outcomes. Empirical data on the mechanisms of inequities are generally lacking, although traditional contributors (structural racism, prejudice, education, income) are certainly at play. In this month’s issue of Pediatrics , Constantino et al1 found that among a large cohort of African American (AA) children, there was on average a 3-year delay between first parental developmental concern and ASD diagnosis. Moreover, nearly half of parents reported visiting multiple providers before receiving an ASD diagnosis, and 31.3% stated lack of available professionals contributed to this delay. Given the pervasive history of racism and exclusion that exists across the United States, particularly in medical care and research, we first applaud the overall goal of Constantino’s work to increase representation of AA children in ASD research. Next, we want to leverage this opportunity as a call to action for the field of ASD services. Specifically, how can these data be used to … Address correspondence to Sarabeth Broder-Fingert, MD, MPH, Department of Pediatrics, Boston Medical Center, 801 Albany St, Boston, MA 02118. E-mail: sarabeth.broder-fingert{at}bmc.org

This study was designed to produce a new parent-report measure, the Diagnostic Receptive Expressive Assessment of Mandarin-Infant Toddler Assessment of Communication and Language (DREAM-IT) in order to provide norms for the developmental skills of children aged 0-36 months in four areas: expressive language, receptive language, cognitive play and social skills. The scale was designed to be both broader and deeper than existing instruments that neglect one or more of these significant domains involved in early language. Items were chosen by a group of specialists with clinical experience working with the age group and with attention to the developmental literature. Caregivers were tested individually by a trained person who asked the questions and provided examples. In addition to an extensive health questionnaire, caregivers answered questions in Mandarin about their child's behaviour using a scale of 'not yet', 'sometimes' or 'always' or listing out words and/or sounds understood or said by the child. The 476 participating caregivers were recruited at maternal and child healthcare clinics centred in Chengdu, China, 191 of whom were tested a second time seven months later. The children were sampled in three-month age-bands from 0 to 36 months. The sample was balanced for child gender by age band, and parental education was balanced. Caregivers of 0-24-month-old children and caregivers of 12-36 months were each asked a different set of questions, to determine the appropriate age range and cutoff points for each question, requiring the sample size to be doubled for children aged 12-24 months. The results were subject to item-response theory analysis to remove outlying items, and the resulting internal reliability was high for each domain (average Cronbach's alpha=0.87). The final instrument (between 67 and 113 questions in total) was refined to include the least redundant questions that had the highest intercorrelations, with attention paid to coverage of all domains across the age range. Two scales were developed: one for children 0-18 months, the second for children aged 18-36 months. The longitudinal design permitted the creation of growth curves and norms for each domain for six-month intervals from 0 to 36 months. A small sample of 32 parents of children with Down syndrome aged 18-36 months provided validation that the scales are highly sensitive to developmental delay. The instrument shows considerable promise for detecting early communication problems in children in China. What is already known on the subject In China, efforts were made in recent years to develop language assessments for infants and toddlers, but limitations existed with the domains included and number of items included per age group. Many clinical practitioners also continued to rely on language subtests of general developmental scales, which were limited in depth and breadth of language skills tested and were never intended for diagnosis of language delay. What this paper adds to existing knowledge This paper discusses the development of a valid caregiver report instrument for early communication and language skills of infants and toddlers in mainland China. The Diagnostic Receptive Expressive Assessment of Mandarin-Infant Toddler (DREAM-IT) includes foundational domains necessary for language and communication development in young children (receptive language, expressive language, cognitive play and social communication domains). The results show strong internal reliability (Cronbach's alpha) for each domain on a sample of 716 children sampled in three-month age bands from 0 to 36 months. The external validity proved strong when tested on a group of 32 young children with Down syndrome. What are the potential or actual clinical implications of this work? Besides helping to inform the diagnosis of language delays in infants and toddlers in China, the caregiver report instrument has special features to support clinical practitioners in a field that is just emerging in China. The unique support features include the automatic generation of a profile of relative strengths and weaknesses of the child on the report and the recommendation of child-specific caregiver coaching videos on a companion app.

This study was performed to determine (a) the age at which autism spectrum disorder (ASD) is first diagnosed in Ugandan children receiving mental health services, (b) whether age at diagnosis varies by sex and clinical presentation, and (c) the average age of ASD diagnosis in children manifesting comorbid conditions. A retrospective chart review was performed and demographic as well as clinical data were collected from children with ASD diagnoses who attended two mental health clinics in Uganda between 2014 and 2019. Descriptive statistics such as percentages, means, and standard deviations were used to summarize the data. Independent t-test was also performed to determine differences in the mean age of diagnosis between males and females. Two hundred and thirty-seven (156 males, 81 females) children with ASD were identified. The average age of ASD diagnosis was (6.9 ± 4.0) years. A statistically significant difference in age of ASD diagnosis was found between males and females (t=-2.106, p=0.036), such that on average females received a diagnosis at least 1 year later than males. Of the 237 participants, 53.6% were identified with ASD only, 16.0% had ASD and ADHD, 10.5% were diagnosed with ASD and epilepsy, and 7.2% had a diagnosis of complex ASD. The results confirm delays in access to ASD diagnosis and suggest that females are more likely to receive a ASD diagnosis later than males within the Ugandan context. ASD awareness should be intensified to improve public or professional knowledge about ASD to enhance early identification in Uganda.

Autism spectrum disorder (ASD) can be diagnosed as early as 18 months of age. However, the average age at diagnosis in the United States is over 2 years later. A lot has been written about the many barriers families face when seeking a diagnosis for their child. One area of research that has received no attention is whether separation between a child's biological parents affects the age at which a child is diagnosed with ASD. This study was conducted among 561 children who were receiving an ASD diagnosis for the first time. On average, these children were 5 years of age. The study took place in an urban, outpatient specialty autism clinic in the United States. Biological parents self-reported their relationship status during the evaluation. This was categorized as either "together" (married or living together but not married) or "not together" (separated, divorced, or never married). At the time of diagnosis, most children's biological parents were together (69%). We found children of parents who were together were diagnosed 1.4 years earlier than those who were not together. These findings have important implications for providing support to families that separate early in a child's life, with the goal of reducing the age at ASD evaluation among single parents and those who have been separated from their child's other biological parent. Providing support to these families is important since earlier age at diagnosis leads to earlier intervention, which can improve long-term outcomes for the child, family, and community as a whole.

10 Tips For Testing Hearing in Children With Autism

Evidence supporting the association between breastfeeding patterns and autism is inconsistent. This study examined sociodemographic and birth factors related to breastfeeding duration and subsequent autism spectrum disorder (autism) diagnosis according to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition, compared to a neurotypically developing cohort, based on electronic health records. Demographics, feeding preferences, and breastfeeding duration as reported by parents during routine baby wellness visits were analyzed for a cohort of 11,766 (1.9%) children with autism spectrum disorder diagnosis and a random subsample of 12,000 (2.03%) neurotypically developing children. Autism spectrum disorder diagnosis was based on a national autism registry and assigned after electronic health records were completed. Preterm, very low birth weight, multiple births, and complex medical comorbidities were excluded. Infants subsequently diagnosed with autism were breastfed for an average of 5.0 months, 1.5 months shorter than neurotypically developing. Fewer autism spectrum disorder infants were exclusively breastfed in the first year of life. Two-way analysis of variance indicated a significant effect of socioeconomic status and autism spectrum disorder on breastfeeding duration, and a significant interaction of socioeconomic status with autism spectrum disorder. Shorter breastfeeding duration among infants with subsequent autism spectrum disorder was confirmed, calling for closer monitoring for autism traits in infants with breastfeeding difficulties. These challenges were independent of birth parameters; however, they were influenced by socioeconomic factors.Lay AbstractThis study found that infants later diagnosed with autism were breastfed for a shorter duration than their typically developing peers, with differences influenced by socioeconomic status. These findings highlight the importance of monitoring breastfeeding challenges as a potential early indicator of autism, particularly in families of mid-range socioeconomic status.

Purpose Several clinical studies have shown correlations between certain physiological measurements and an autism spectrum disorder (ASD) diagnosis. Such findings, however, have generally not resulted in tangible progress towards practical translation. In fact, most studies have been retrospective in nature and compare biomarker profiles in children with an ASD diagnosis to those who are typically developing. A clinically meaningful test, however, requires an ASD diagnostic center to distinguish children from those with a developmental disorder pre-diagnosis. Methods This paper presents, for the first time, a double-blind case/control trial design in which metabolic profiles, collected at two developmental pediatric clinics, were collected from children on a diagnostic waitlist for the purpose of developing a blood-based test for ASD. Besides obtaining blood samples, the children underwent gold-standard clinical evaluations, including the Autism Diagnostic Observation Schedule (ADOS), Mullens Scale of Early Learning (MSEL), and Vineland Adaptive Behavior Scale (VABS). The analysis, together with a complete medical history and physical exam, allowed to confirm or rule-out suspected ASD using DSM-V criteria. The study was based on a cohort of 140 children between the ages 18-60 months, that were referred to a developmental pediatrician because of concerns in their development. Results 114 of these children received an ASD diagnosis, while 26 were diagnosed with non-ASD related developmental delays. Based on the measured metabolites, artificial intelligence-based classification algorithms allowed for an over 80% accuracy in predicting whether a sample came from a child diagnosed with ASD or not. Conclusion While these results need to be replicated in a larger study, especially involving more children with non-ASD related developmental delays, this is the first work using physiological measurements, coupled with AI, to support ASD diagnoses in a clinically relevant setting.

To describe retention of an autism spectrum disorder (ASD) diagnosis from preschool to adolescence and the most common co-occurring diagnoses among children with ASD in preschool and adolescence. A second objective was to identify co-occurring diagnoses more likely to emerge between preschool and adolescence among children with ASD vs. another developmental or mental health diagnosis in preschool. Children completed a case-control study when they were between 2 and 5 years of age. Caregivers reported their child's diagnoses of ASD and attention deficit hyperactivity disorder (ADHD), any developmental delay (DD), epilepsy/seizure disorder, obsessive-compulsive disorder, sensory integration disorder, and speech/language disorder when the child was preschool age and, separately, during adolescence. Any anxiety and depression/mood disorder, intellectual disability (ID), and learning disability (LD) were considered only in adolescence. 85.5% of preschool children retained their ASD diagnosis in adolescence. DD, sensory integration disorder, and speech-language disorder co-occurred in over 20% of preschool age children with ASD. These same conditions, along with anxiety disorders, ADHD, ID, and LD, co-occurred in over 20% of adolescents with ASD. Significantly more children with ASD vs. another developmental or mental health diagnosis in preschool gained diagnoses of ADHD, DD, sensory integration disorder, and speech-language disorder by adolescence. ASD is a highly stable diagnosis and co-occurring conditions are common. The prevalence of co-occurring diagnoses may depend on age, with some persisting from preschool to adolescence and others emerging over time. Health and education providers can use these findings to inform precision monitoring and treatment planning.

BackgroundA crucial step to understanding the mechanistic underpinnings of autism spectrum disorder (ASD), is to examine if the biological underpinnings of ASD in genetic high-risk conditions, like 22q11.2 deletion syndrome (22q11.2DS), are similar to those in idiopathic illness. This study aimed to examine if ASD symptomatology in 22q11.2DS is underpinned by the same—or distinct—neural systems that mediate these symptoms in non-deletion carriers.MethodsWe examined vertex-wise estimates of cortical volume (CV), surface area (SA), and cortical thickness across 131 individuals between 6 and 25 years of age including (1) 50 individuals with 22q11.2DS, out of which n = 25 had a diagnosis of ASD, (2) 40 non-carriers of the microdeletion with a diagnosis of ASD (i.e., idiopathic ASD), and (3) 41 typically developing (TD) controls. We employed a 2-by-2 factorial design to identify neuroanatomical variability associated with the main effects of 22q11.2DS and ASD, as well as their interaction. Further, using canonical correlation analysis (CCA), we compared neuroanatomical variability associated with the complex (i.e., multivariate) clinical phenotype of ASD between 22q11.2 deletion carriers and non-carriers.ResultsThe set of brain regions associated with the main effect of 22q11.2DS was distinct from the neuroanatomical underpinnings of the main effect of ASD. Moreover, significant 22q11.2DS-by-ASD interactions were observed for CV and SA in the dorsolateral prefrontal cortex, precentral gyrus, and posterior cingulate cortex, suggesting that the neuroanatomy of ASD is significantly modulated by 22q11.2DS (p < 0.01). We further established that the multivariate patterns of neuroanatomical variability associated with differences in symptom profiles significantly differed between 22q11.2 deletion carriers and non-carriers.LimitationsWe employed a multicenter design to overcome single-site recruitment limitations; however, FreeSurfer-derived measures of surface anatomy have been shown to be highly reliable across scanner platforms and field strengths. Further, we controlled for gender to address the differing distribution between idiopathic ASD individuals and the other groups. Nonetheless, the gender distribution in our sample reflects that of the respective populations, adding to the generalizability of our results. Last, we included individuals with a relatively wide age range (i.e., 6–25 years).ConclusionsOur findings indicate that neuroanatomical correlates of ASD symptomatology in carriers of the 22q11.2 microdeletion diverge from those in idiopathic ASD.

Objective:Executive functioning (EF) is impaired in autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), and EF challenges are exacerbated in youth with ASD and ADHD (ASD+ADHD), which may impact diagnostic timing. We hypothesized youth with ASD+ADHD would be more impaired in EF (as opposed to other functional domains) compared to autistic youth without ADHD (ASD-only), with particular deficits in metacognition and inhibition. We also predicted youth with ASD+ADHD would be at significant risk for delayed ASD diagnosis and that greater EF challenges would predict earlier age of ASD diagnosis across groups.Participants and Methods:Data from a clinical database was extracted for 400 youth who received a new diagnosis of ASD after age 5, either with a co-occurring diagnosis of ADHD (ASD+ADHD group: n=297; Mage of ASD diagnosis=10.49; 25.9% female; 48.1% white) or without a co-occurring ADHD diagnosis (ASD-only group: n=100; Mage of ASD diagnosis=12.02; 34.0% female; 44.7% white). EF was measured with the BRIEF-2 parent-report, and ASD symptom strength was measured with the SRS-2 School Age form. Independent samples t-tests investigated whether a) the ASD+ADHD group was uniquely impaired in EF compared to the ASD-only group, b) parents of ASD+ADHD report elevated EF problems, and c) the ASD+ADHD group was at significant risk for delayed ASD diagnosis. Pearson correlations examined the association between age of ASD diagnosis and EF for each diagnostic group. Hierarchical linear regressions further analyzed whether specific EF domains concurrently predicted age of ASD diagnosis, after controlling for the known predictors of assigned sex at birth, FSIQ, and ASD symptom strength.Results:The ASD+ADHD group had greater challenges in overall EF (t=-6.42, p&lt;.001), metacognitive skills (t=-6.47, p &lt;.001), and inhibition skills (t=-7.06, p&lt;.001). There was no significant difference in parent-reported autism symptoms between the ASD and ASD+ADHD groups (t=0.973, p=.331). The ASD+ADHD group received ASD diagnoses earlier than the ASD-only group (t=4.194, p&lt;.001). In the ASD-only group, age of ASD diagnosis was not significantly correlated to overall EF, metacognitive skills, nor inhibition skills (ps&gt;.05). In the ASD+ADHD group, ASD diagnosis was significantly related to overall EF (r(297)=.128, p=.027) and metacognitive skills (r(297)=.329, p&lt;.001) but not inhibition skills (r(297)=.078, p=.180). Hierarchical linear regressions controlling for assigned sex at birth, FSIQ, and SRS-2 T-scores were used to determine whether these EF components significantly predicted age of ASD diagnosis. Overall EF did not predict age of ASD diagnosis in the ASD+ADHD group (ß=.034, t=1.417, p=.157), but metacognitive skills did (ß=.123, t=5.582, p&lt;.001).Conclusions:Our findings suggest youth with ASD+ADHD have greater impairment in overall EF, metacognition, and inhibition compared to ASD-only youth, despite similar levels of ASD traits, consistent with hypotheses. Contrary to our hypothesis, youth with ASD+ADHD in this sample were diagnosed with ASD earlier. However, results also suggest EF problems, specifically metacognitive deficits, predict later age of ASD diagnosis. Future research is needed to replicate findings and better understand how EF and other functional domains predict ASD diagnostic timing.

In recent years, many studies indicate that children with an autism spectrum disorder (ASD) diagnosis have brain pathology suggestive of ongoing neuroinflammation or encephalitis in different regions of their brains. Evidence of neuroinflammation or encephalitis in ASD includes: microglial and astrocytic activation, a unique and elevated proinflammatory profile of cytokines, and aberrant expression of nuclear factor kappa-light-chain-enhancer of activated B cells. A conservative estimate based on the research suggests that at least 69% of individuals with an ASD diagnosis have microglial activation or neuroinflammation. Encephalitis, which is defined as inflammation of the brain, is medical diagnosis code G04.90 in the International Classification of Disease, 10th revision; however, children with an ASD diagnosis are not generally assessed for a possible medical diagnosis of encephalitis. This is unfortunate because if a child with ASD has neuroinflammation, then treating the underlying brain inflammation could lead to improved outcomes. The purpose of this review of the literature is to examine the evidence of neuroinflammation/encephalitis in those with an ASD diagnosis and to address how a medical diagnosis of encephalitis, when appropriate, could benefit these children by driving more immediate and targeted treatments.