Mental rotation and language in autism spectrum disorder.

Though visuospatial skills are often considered a relative strength in autism spectrum disorder (ASD), unexplained difficulties relative to neurotypical (NT) peers have also been observed. Dissociations between spatial cognition and language skills in ASD may explain these difficulties given that these systems are linked in NT individuals. The current study examined performance on a mental rotation task that systematically varied stimulus features and the degree to which performance was associated with language in ASD relative to NT peers. Participants were children and young adults with ASD and 25 pairwise age- and IQ-matched NT peers (p's>0.53). The mental rotation task involved four conditions: two-dimensional (2D) abstract figures, three-dimensional (3D) abstract figures, 2D common objects, and 3D common objects. Structural language was measured using the grammar subscale from the Test of Language Development: Intermediate adapted for Norwegian. Mixed-effects model results indicated that autistic individuals were less accurate and had slower reaction time across mental rotation task conditions than NT peers. Language was associated with mental rotation accuracy for both groups across conditions, but with reaction time only for the NT group. The current study demonstrated selective associations between language and performance on a classic spatial cognition task in autistic individuals. Namely, there was a dissociation between language and in-the-moment efficiency in the ASD group, and this dissociation may reflect a broader dissociation between visuospatial and language systems.

The potential of repetitive transcranial magnetic stimulation for addressing sleep difficulties in children with autism - A brief communication.

Sleep difficulties can co-occur with autistic traits and have been frequently reported in children diagnosed with autism. Thus, sleep difficulties may impact neural development, cognition, and behavioural functioning in children with autism. Interventions, such as repetitive transcranial magnetic stimulation (rTMS), that target aberrant neural structures underpinning autistic traits and sleep difficulties in children could have beneficial effects. The rTMS effects on the pathophysiological pathways hypothesised to underpin autism and sleep difficulties are well-established in the literature; however, clinical evidence of its potential to improve sleep difficulties in children with autism is limited. While the preliminary data is promising, further robust rTMS studies are warranted to encourage its use in clinical practices.

Concurrent Developmental Regression and Neurocognitive Decline in a Child With De Novo CHD8 Gene Mutation.

BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder. Unique ASD subtypes have been proposed based on specific genotype-phenotype combinations. The ASD subtype associated with various chromodomain helicase DNA-binding protein 8 (CHD8) mutations has been associated with an incidence of autistic regression greater than that of all-cause ASD, but the mean age of onset of this subtype remains unknown. METHODS: Here we describe a patient with a known de novo CHD8 gene mutation (heterozygous c.2565del) who experienced a profound developmental regression and neurocognitive decline at age 13 years following periods of acute viral illness. RESULTS: The patient developed treatment-refractory catatonia and self-injurious behaviors leading to marked facial disfigurement. Unfortunately, interventions with immunomodulatory medications, psychotropic medications, and electroconvulsive therapy did not lead to sustained symptom improvement or a full return to baseline. CONCLUSIONS: Our case demonstrates a clinical scenario in which a devastating developmental regression and neurocognitive decline occurred with profound accentuation of previously identified autistic features at an age atypical for autistic regression, following sequential viral infections, thereby raising the question of whether immune dysregulation may be a contributing factor. Regression in patients with monogenic mutations in the CHD8 gene warrants further study to elucidate the mechanisms of illness and the anticipated developmental trajectory.

Conducting head-mounted eye-tracking research with young children with autism and children with increased likelihood of later autism diagnosis.

BACKGROUND: Over the past years, researchers have been using head-mounted eye-tracking systems to study young children's gaze behaviors in everyday activities through which children learn about the world. This method has great potential to further our understanding of how millisecond-level gaze behaviors create multisensory experiences and fluctuate around social environments. While this line of work can yield insight into early perceptual experiences and potential learning mechanisms, the majority of the work is exclusively conducted with typically-developing children. Sensory sensitivities, social-communication difficulties, and challenging behaviors (e.g., disruption, elopement) are common among children with developmental disorders, and they may represent potential methodological challenges for collecting high-quality data. RESULTS: In this paper, we describe our research practices of using head-mounted eye trackers with 41 autistic children and 17 children with increased likelihood of later autism diagnosis without auditory or visual impairments, including those who are minimally or nonspeaking and/or have intellectual disabilities. The success rate in gathering data among children with autism was 92.68%. 3 of 41 children failed to complete the play-session, resulting in an 86.36% success rate among 1-4-year-olds and a 100.00% success rate among 5-8-year-olds. 1 of 17 children with increased likelihood of later autism diagnosis failed to complete the play-session, resulting in a success rate of 94.11%. There were numerous "challenging" behaviors relevant to the method. The most common challenging behaviors included taking the eye-tracking device off, elopement, and becoming distressed. Overall, among children with autism, 88.8% of 1-4-year-olds and 29.4% of 5-8-year-olds exhibited at least one challenging behavior. CONCLUSIONS: Research capitalizing on this methodology has the potential to reveal early, socially-mediated gaze behaviors that are relevant for autism screening, diagnosis, and intervention purposes. We hope that our efforts in documenting our study methodology will help researchers and clinicians effectively study early naturally-occuring gaze behaviors of children during non-experimental contexts across the spectrum and other developmental disabilities using head-mounted eye-tracking. Ultimately, such applications may increase the generalizability of results, better reflect the diversity of individual characteristics, and offer new ways in which this method can contribute to the field.

Exploring Motor Speech Disorders in Low and Minimally Verbal Autistic Individuals: An Auditory-Perceptual Analysis.

PURPOSE: Motor deficits are widely documented among autistic individuals, and speech characteristics consistent with a motor speech disorder have been reported in prior literature. We conducted an auditory-perceptual analysis of speech production skills in low and minimally verbal autistic individuals as a step toward clarifying the nature of speech production impairments in this population and the potential link between oromotor functioning and language development. METHOD: Fifty-four low or minimally verbal autistic individuals aged 4-18 years were video-recorded performing nonspeech oromotor tasks and producing phonemes, syllables, and words in imitation. Three trained speech-language pathologists provided auditory perceptual ratings of 11 speech features reflecting speech subsystem performance and overall speech production ability. The presence, attributes, and severity of signs of oromotor dysfunction were analyzed, as were relative performance on nonspeech and speech tasks and correlations between perceptual speech features and language skills. RESULTS AND CONCLUSIONS: Our findings provide evidence of a motor speech disorder in this population, characterized by perceptual speech features including reduced intelligibility, decreased consonant and vowel precision, and impairments of speech coordination and consistency. Speech deficits were more associated with articulation than with other speech subsystems. Speech production was more impaired than nonspeech oromotor abilities in a subgroup of the sample. Oromotor deficits were significantly associated with expressive and receptive language skills. Findings are interpreted in the context of known characteristics of the pediatric motor speech disorders childhood apraxia of speech and childhood dysarthria. These results, if replicated in future studies, have significant potential to improve the early detection of language impairments, inform the development of speech and language interventions, and aid in the identification of neurobiological mechanisms influencing communication development.

Understanding the impacts of chronic pain on autistic adolescents and effective pain management: a reflexive thematic analysis adolescent-maternal dyadic study.

OBJECTIVE: Sensory elements are core features in chronic pain and autism, yet knowledge of the pain experience in autistic adolescents is limited. Little is known regarding how autistic adolescents experience chronic pain, manage their pain and perceive psychological treatment for their chronic pain. METHODS: Ten autistic adolescents (6 female, 3 male, and 1 self-identified as agender) with chronic pain and their mothers (n = 10) participated in semistructured interviews concerning their perceptions of living with chronic pain. Participants were recruited from U.K. pain management services. According to preference, interviews were conducted individually (n = 10) or dyadically (n = 10 participants across 5 dyads). Data were analyzed using inductive reflexive thematic analysis. RESULTS: Two themes were generated. Theme 1, "overstimulated and striving for control" described how adolescents' experience of heightened sensitivity enhanced adolescents' levels of anxiety and subsequent pain, illustrating a reciprocal relationship between anxiety, pain, and sensory elements. Theme 2, "not everyone fits the mold" captured how autistic adolescents positioned themselves as distinct from others due to the unique nature of being autistic and living with pain. This sense of difference negatively impacted adolescents' ability to engage with and benefit from the standard treatment for chronic pain. CONCLUSIONS: Findings suggest that autistic adolescents living with pain experience pain and face barriers to effective pain treatment. Our results identify the need for educational resources to facilitate clinicians to better understand the experience of autistic adolescents living with pain. In turn, such understanding may improve treatment and outcomes in this population.

Age at autism spectrum disorder diagnosis and its association with child and family characteristics in a tertiary care hospital in Malaysia.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder. Despite the absence of a cure, early diagnosis and intensive early intervention can improve the outcomes. However, little is known about the median age at ASD diagnosis in Malaysia or the child/family characteristics associated with early diagnosis. Therefore, this study aimed to determine the median age at ASD diagnosis among Malaysian children presenting to the country's largest public tertiary neurodevelopmental center and to investigate the possible demographic, child, and family characteristics associated with an early age at diagnosis. Data were collected between February 2017 and February 2019 from a database maintained by the child development unit of the country's largest publicly funded tertiary hospital, containing data from an ethnically diverse population. Among Malaysian children attending the clinic, the median age at ASD diagnosis was 48 months. Early autism diagnosis (<36 months of age) was associated with increased severity of social communication and interaction impairments, coexisting intellectual impairment, children from high socioeconomic status families, and children who receive joint care from their families and a maid or babysitter. The study findings highlight the socioeconomic inequalities in the country, a lack of parental awareness of early ASD signs, and the presence of cultural influences on the age at diagnosis of ASD.

Dr. Joseph Biederman's Enduring Legacy: Illuminating the Path to Addressing Autistic Traits in Attention Deficit Hyperactivity Disorder With Transcranial Photobiomodulation.

OBJECTIVE: To review the existing literature on transcranial photobiomodulation (tPBM) treatment effects on Autism Spectrum Disorder (ASD), in search for an effective treatment of a symptom cluster identified largely by contributions from late Dr. Biederman who asserted that they frequently present with Attention Deficit Hyperactivity Disorder (ADHD). METHOD: A survey of two databases, PubMed and PsycINFO, for clinical trials reporting on tPBM treatment in ASD was performed. Identified manuscripts that met eligibility criteria were then reviewed. RESULTS: Three original manuscripts reporting findings on a heterogenous group of study methods met the eligibility criteria. Despite the heterogenous nature of study designs, findings from all three studies reported tPBM treatment to be associated with improvements in ASD symptoms. No serious or treatment limiting adverse events were reported. CONCLUSIONS: A nascent body of research suggests further clinical studies investigating efficacy of tPBM in treatment of ASD symptoms should be supported.

Vowel distinctiveness as a concurrent predictor of expressive language function in autistic children.

Speech ability may limit spoken language development in some minimally verbal autistic children. In this study, we aimed to determine whether an acoustic measure of speech production, vowel distinctiveness, is concurrently related to expressive language (EL) for autistic children. Syllables containing the vowels [i] and [a] were recorded remotely from 27 autistic children (4;1-7;11) with a range of spoken language abilities. Vowel distinctiveness was calculated using automatic formant tracking software. Robust hierarchical regressions were conducted with receptive language (RL) and vowel distinctiveness as predictors of EL. Hierarchical regressions were also conducted within a High EL and a Low EL subgroup. Vowel distinctiveness accounted for 29% of the variance in EL for the entire group, RL for 38%. For the Low EL group, only vowel distinctiveness was significant, accounting for 38% of variance in EL. Conversely, in the High EL group, only RL was significant and accounted for 26% of variance in EL. Replicating previous results, speech production and RL significantly predicted concurrent EL in autistic children, with speech production being the sole significant predictor for the Low EL group and RL the sole significant predictor for the High EL group. Further work is needed to determine whether vowel distinctiveness longitudinally, as well as concurrently, predicts EL. Findings have important implications for the early identification of language impairment and in developing language interventions for autistic children.

Mental Health Crises in Autistic Children: A Framework for Prevention and Intervention in Primary Care.

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

Profound Autism: An Imperative Diagnosis.

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

Racial and ethnic disparities in the co-occurrence of intellectual disability and autism: Impact of incorporating measures of adaptive functioning.

Intellectual disability (ID) commonly co-occurs in children with autism. Although diagnostic criteria for ID require impairments in both cognitive and adaptive functioning, most population-based estimates of the frequency of co-occurring ID in children with autism-including studies of racial and ethnic disparities in co-occurring autism and ID-base the definition of ID solely on cognitive scores. The goal of this analysis was to examine the effect of including both cognitive and adaptive behavior criteria on estimates of co-occurring ID in a well-characterized sample of 2- to 5-year-old children with autism. Participants included 3264 children with research or community diagnoses of autism enrolled in the population-based Study to Explore Early Development (SEED) phases 1-3. Based only on Mullen Scales of Early Learning (MSEL) composite cognitive scores, 62.9% (95% confidence interval [CI]: 61.1, 64.7%) of children with autism were estimated to have co-occurring ID. After incorporating Vineland Adaptive Behavior Scales, Second Edition (VABS-II) composite or domains criteria, co-occurring ID estimates were reduced to 38.0% (95% CI: 36.2, 39.8%) and 45.0% (95% CI: 43.1, 46.9%), respectively. The increased odds of meeting ID criteria observed for non-Hispanic (NH) Black and Hispanic children relative to NH White children when only MSEL criteria were used were substantially reduced, though not eliminated, after incorporating VABS-II criteria and adjusting for selected socioeconomic variables. This study provides evidence for the importance of considering adaptive behavior as well as socioeconomic disadvantage when describing racial and ethnic disparities in co-occurring ID in epidemiologic studies of autism.

Dietary intake and gastrointestinal symptoms are altered in children with Autism Spectrum Disorder: the relative contribution of autism-linked traits.

BACKGROUND: Dietary and gastrointestinal (GI) problems have been frequently reported in autism spectrum disorder (ASD). However, the relative contributions of autism-linked traits to dietary and GI problems in children with ASD are poorly understood. This study firstly compared the dietary intake and GI symptoms between children with ASD and typically developing children (TDC), and then quantified the relative contributions of autism-linked traits to dietary intake, and relative contributions of autism-linked traits and dietary intake to GI symptoms within the ASD group. METHODS: A sample of 121 children with ASD and 121 age-matched TDC were eligible for this study. The dietary intake indicators included food groups intakes, food variety, and diet quality. The autism-linked traits included ASD symptom severity, restricted repetitive behaviors (RRBs), sensory profiles, mealtime behaviors, and their subtypes. Linear mixed-effects models and mixed-effects logistic regression models were used to estimate the relative contributions. RESULTS: Children with ASD had poorer diets with fewer vegetables/fruits, less variety of food, a higher degree of inadequate/unbalanced dietary intake, and more severe constipation/total GI symptoms than age-matched TDC. Within the ASD group, compulsive behavior (a subtype of RRBs) and taste/smell sensitivity were the only traits associated with lower vegetables and fruit consumption, respectively. Self-injurious behavior (a subtype of RRBs) was the only contributing trait to less variety of food. Limited variety (a subtype of mealtime behavior problems) and ASD symptom severity were the primary and secondary contributors to inadequate dietary intake, respectively. ASD symptom severity and limited variety were the primary and secondary contributors to unbalanced dietary intake, respectively. Notably, unbalanced dietary intake was a significant independent factor associated with constipation/total GI symptoms, and autism-linked traits manifested no contributions. CONCLUSIONS: ASD symptom severity and unbalanced diets were the most important contributors to unbalanced dietary intake and GI symptoms, respectively. Our findings highlight that ASD symptom severity and unbalanced diets could provide the largest benefits for the dietary and GI problems of ASD if they were targeted for early detection and optimal treatment.

When mind and measurement diverge; the interplay between subjective cognitive complaints (SCCs), objective cognition, age, and depression in autistic adults.

While the increased incidence of dementia and subjective cognitive complaints (SCCs) suggests that autistic adults may face cognitive challenges at older age, the extent to which SCCs predict (future) cognitive functioning remains uncertain. This uncertainty is complicated by associations with variables like depression. The current study aims to unravel the interplay of age, depression, cognitive performance, and SCCs in autism. Using a large cross-sectional cohort of autistic (n=202) and non-autistic adults (n=247), we analyzed associations of SCCs with age, depression, and cognitive performance across three domains (visual memory, verbal memory, and fluency). Results showed a strong significant association between depression and SCCs in both autistic and non-autistic adults. Cognitive performance was not significantly associated with SCCs, except for a (modest) association between visual memory performance and SCCs in autistic adults only. Follow-up regression tree analysis indicated that depression and being autistic were considerably more predictive of SCCs than objective cognitive performance. Age nor sex was significantly associated with SCCs. These findings indicate that self-reported cognitive functioning does not equal cognitive performance, and should be interpreted with care, especially in individuals with high rates of depression. Longitudinal investigations are needed to understand SCCs' role in dementia and cognitive health in autism.

Evaluation of catatonia in autism and severe depression revealing Phelan-McDermid syndrome and tetrahydrobiopterin deficiency.

The authors describe a female in her late twenties, presenting with catatonia and diagnosed with epilepsy, autism spectrum disorder, mild intellectual disability, psychosis, dysthymia, anxiety and bipolar disorder, receiving weekly electroconvulsive therapy (ECT). After testing, findings indicated an interstitial deletion in the 22q13.33 region associated with Phelan-McDermid syndrome. In addition, the patient had low cerebral spinal fluid tetrahydrobiopterin (BH4) levels, suggesting dysfunction in the pterin biosynthetic pathway. As a result, the patient started on sapropterin, a BH4 replacement small molecule. After sapropterin treatment, catatonia improved, and the need for ECT decreased. There was an improvement in her cognitive ability, attention and independence. However, there has been no improvement in seizure frequency.

Peripheral oxytocin levels are linked to hypothalamic gray matter volume in autistic adults: a cross-sectional secondary data analysis.

Oxytocin (OXT) is known to modulate social behavior and cognition and has been discussed as pathophysiological and therapeutic factor for autism spectrum disorder (ASD). An accumulating body of evidence indicates the hypothalamus to be of particular importance with regard to the underlying neurobiology. Here we used a region of interest voxel-based morphometry (VBM) approach to investigate hypothalamic gray matter volume (GMV) in autistic (n = 29, age 36.03 ± 11.0) and non-autistic adults (n = 27, age 30.96 ± 11.2). Peripheral plasma OXT levels and the autism spectrum quotient (AQ) were used for correlation analyses. Results showed no differences in hypothalamic GMV in autistic compared to non-autistic adults but suggested a differential association between hypothalamic GMV and OXT levels, such that a positive association was found for the ASD group. In addition, hypothalamic GMV showed a positive association with autistic traits in the ASD group. Bearing in mind the limitations such as a relatively small sample size, a wide age range and a high rate of psychopharmacological treatment in the ASD sample, these results provide new preliminary evidence for a potentially important role of the HTH in ASD and its relationship to the OXT system, but also point towards the importance of interindividual differences.

Dental problems in children with autism: a 5-year study.

Caries experience of children and complex clinical circumstances are an actual challenge for any healthcare professional. To investigate the early childhood caries (ECC) in autistic and non autistic children (≤4 years of age) evaluating the amount of dental damage and the treatments carried out in both groups. Data regarding the oral health status of 40 patients (≤4 years of age) were assembled. The sample group was constituted of 20 autistic children (12 males with a mean age of 2.5 years and 8 females with a mean age of 3.2 years) whereas 20 patients without the autistic spectrum represented the control group (11 males with a mean age of 3 and 9 females with a mean age of 3.3 years). There were no significant differences between the two groups as regards both the extent of dental damage and the treatments carried out. About the frequency, in the autistic group, the most frequent caries were the white spots and enamel proximal lesions (2.2%), followed by only white spots (1.2%) and brown-black cavities and root stumps (0.6%). In the control group, the brown-black cavities and root stumps represented the most frequent findings (2.2%), followed by white spots and enamel proximal lesions (1.4%) and white spots (0.4%). Regarding the treatments, the most repeated management of dental damage among autistic patients was composite restorations (2.2%) while in nonautistic patients were tooth extractions (2%).

Comprehension of irony in autistic children: The role of theory of mind and executive function.

Although previous studies have examined irony comprehension in autistic children and potential impact factors, the relationship between theory of mind (ToM), executive function (EF), symptoms of autism, and comprehension of irony in this population remains largely unknown. This study explored irony comprehension in autistic children and examined the roles of ToM and EF in linking autism symptoms to deficits in irony comprehension. Twenty autistic children were compared with 25 typically developing (TD) children in an irony story picture task, ToM task, and EF task. The results showed that autistic children had impaired comprehension of irony compared with TD children, and performance on ironic stories showed a significant moderate discriminatory effect in predicting autistic children. A ToM deficit has also been proposed for autistic children. Comprehension of irony was significantly correlated with second-order ToM (2nd ToM) but was not significantly correlated with any components of EF. Moreover, 2nd ToM can predict the level of irony comprehension and mediate the relationship between symptoms of autism and irony comprehension. Taken together, these findings suggest that irony comprehension may offer a potential cognitive marker for quantifying syndrome manifestations in autistic children, and 2nd ToM may provide insight into the theoretical mechanism underlying the deficit in irony comprehension in this population.

Patterns of equipment use for autistic children in multi-sensory environments: Time spent with sensory equipment varies by sensory profile and intellectual ability.

LAY ABSTRACT: Multi-sensory environments, often called sensory rooms, are widely used with autistic children. However, we know very little about how autistic children choose to spend their time in multi-sensory environments. We also do not know how their equipment preferences relate to their individual characteristics such as their sensory differences, level of ability or general autistic behaviours. We measured the frequency and duration of visits to multi-sensory environment equipment of 41 autistic children during 5 min of free play. The bubble tube and touch, sound and light board were both highly popular, with the fibre optics and tactile board receiving less attention. The children displayed significantly more sensory seeking behaviours in the multi-sensory environment than sensory-defensive behaviours. These sensory seeking behaviours, as well as the sensory behaviours that their parents reported they showed in daily life, were associated with specific patterns of multi-sensory environment equipment use. Non-verbal ability was also associated with multi-sensory environment equipment use, but broader autistic behaviours were not. Our findings show that the multi-sensory environment equipment preferences of autistic children are related to individual differences in sensory behaviours and non-verbal ability. This information could be useful for teachers and other practitioners who want to know how best to use multi-sensory environments with autistic children.