ABSTRACT
PURPOSE: This study evaluates the extent to which automated indices of vocal development are stable and valid for predicting language in infants at increased familial likelihood for autism and/or language impairment and relatively lower likelihood infants. METHOD: A group of infants with autistic siblings (Sibs-autism; 20 infants) and a comparison group of infants with non-autistic siblings (Sibs-NA; 20 infants) wore Language ENvironment Analysis (LENA) recording devices for 16 hr on 2 days within a 1-week period. Extant software was used to derive several putative indices of vocal development from these recordings. Stability of these variables was examined across and within groups. Expressive and receptive language aggregates were calculated for each participant. Multiple regression analyses were used to (a) evaluate zero-order correlations for variables derived from LENA recordings with concurrent and future language and (b) test whether those associations were moderated by group status. RESULTS: Both stability and validity differed by variable and group status. All variables reached acceptable stability in the Sibs-autism group within two to three observations, whereas stability of most variables was attenuated in the Sibs-NA group. No variables were associated with concurrent language in the theoretically motivated direction across groups, but two variables were strongly associated with concurrent expressive language in only the Sibs-NA group. Additionally, two variables were associated with later expressive language, though these correlations were again stronger in the Sibs-NA versus Sibs-autism group. CONCLUSIONS: Although selected automated indices of vocal development were stable in Sibs-autism and/or valid for predicting expressive language within Sibs-NA, no scores showed strong, theoretically motivated associations with language within the Sibs-autism group. Automated indices of vocal development may, thus, have limited validity or clinical utility for predicting language development in infants at elevated familial likelihood for autism. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.24415735.
Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Language Development Disorders , Infant , Humans , Siblings , Language Development Disorders/complications , Language Development , Language , Autism Spectrum Disorder/complicationsABSTRACT
BACKGROUND: Differences in responding to sensory stimuli, including sensory hyperreactivity (HYPER), hyporeactivity (HYPO), and sensory seeking (SEEK) have been observed in autistic individuals across sensory modalities, but few studies have examined the structure of these "supra-modal" traits in the autistic population. METHODS: Leveraging a combined sample of 3868 autistic youth drawn from 12 distinct data sources (ages 3-18 years and representing the full range of cognitive ability), the current study used modern psychometric and meta-analytic techniques to interrogate the latent structure and correlates of caregiver-reported HYPER, HYPO, and SEEK within and across sensory modalities. Bifactor statistical indices were used to both evaluate the strength of a "general response pattern" factor for each supra-modal construct and determine the added value of "modality-specific response pattern" scores (e.g., Visual HYPER). Bayesian random-effects integrative data analysis models were used to examine the clinical and demographic correlates of all interpretable HYPER, HYPO, and SEEK (sub)constructs. RESULTS: All modality-specific HYPER subconstructs could be reliably and validly measured, whereas certain modality-specific HYPO and SEEK subconstructs were psychometrically inadequate when measured using existing items. Bifactor analyses supported the validity of a supra-modal HYPER construct (ωH = .800) but not a supra-modal HYPO construct (ωH = .653), and supra-modal SEEK models suggested a more limited version of the construct that excluded some sensory modalities (ωH = .800; 4/7 modalities). Modality-specific subscales demonstrated significant added value for all response patterns. Meta-analytic correlations varied by construct, although sensory features tended to correlate most with other domains of core autism features and co-occurring psychiatric symptoms (with general HYPER and speech HYPO demonstrating the largest numbers of practically significant correlations). LIMITATIONS: Conclusions may not be generalizable beyond the specific pool of items used in the current study, which was limited to caregiver report of observable behaviors and excluded multisensory items that reflect many "real-world" sensory experiences. CONCLUSION: Of the three sensory response patterns, only HYPER demonstrated sufficient evidence for valid interpretation at the supra-modal level, whereas supra-modal HYPO/SEEK constructs demonstrated substantial psychometric limitations. For clinicians and researchers seeking to characterize sensory reactivity in autism, modality-specific response pattern scores may represent viable alternatives that overcome many of these limitations.
Subject(s)
Autistic Disorder , Adolescent , Humans , Bayes Theorem , Cognition , Data Analysis , PhenotypeABSTRACT
Explaining individual differences in vocabulary in autism is critical, as understanding and using words to communicate are key predictors of long-term outcomes for autistic individuals. Differences in audiovisual speech processing may explain variability in vocabulary in autism. The efficiency of audiovisual speech processing can be indexed via amplitude suppression, wherein the amplitude of the event-related potential (ERP) is reduced at the P2 component in response to audiovisual speech compared to auditory-only speech. This study used electroencephalography (EEG) to measure P2 amplitudes in response to auditory-only and audiovisual speech and norm-referenced, standardized assessments to measure vocabulary in 25 autistic and 25 nonautistic children to determine whether amplitude suppression (a) differs or (b) explains variability in vocabulary in autistic and nonautistic children. A series of regression analyses evaluated associations between amplitude suppression and vocabulary scores. Both groups demonstrated P2 amplitude suppression, on average, in response to audiovisual speech relative to auditory-only speech. Between-group differences in mean amplitude suppression were nonsignificant. Individual differences in amplitude suppression were positively associated with expressive vocabulary through receptive vocabulary, as evidenced by a significant indirect effect observed across groups. The results suggest that efficiency of audiovisual speech processing may explain variance in vocabulary in autism.
ABSTRACT
Differences in sensory function have been documented for a number of neurodevelopmental conditions, including reading and language impairments. Prior studies have measured audiovisual multisensory integration (i.e., the ability to combine inputs from the auditory and visual modalities) in these populations. The present study sought to systematically review and quantitatively synthesize the extant literature on audiovisual multisensory integration in individuals with reading and language impairments. A comprehensive search strategy yielded 56 reports, of which 38 were used to extract 109 group difference and 68 correlational effect sizes. There was an overall difference between individuals with reading and language impairments and comparisons on audiovisual integration. There was a nonsignificant trend towards moderation according to sample type (i.e., reading versus language) and publication/small study bias for this model. Overall, there was a small but non-significant correlation between metrics of audiovisual integration and reading or language ability; this model was not moderated by sample or study characteristics, nor was there evidence of publication/small study bias. Limitations and future directions for primary and meta-analytic research are discussed.
Subject(s)
Language Development Disorders , Reading , Humans , Auditory Perception , Visual Perception , Language , Acoustic Stimulation , Photic StimulationABSTRACT
Autistic youth demonstrate differences in processing multisensory information, particularly in temporal processing of multisensory speech. Extensive research has identified several key brain regions for multisensory speech processing in non-autistic adults, including the superior temporal sulcus (STS) and insula, but it is unclear to what extent these regions are involved in temporal processing of multisensory speech in autistic youth. As a first step in exploring the neural substrates of multisensory temporal processing in this clinical population, we employed functional magnetic resonance imaging (fMRI) with a simultaneity-judgment audiovisual speech task. Eighteen autistic youth and a comparison group of 20 non-autistic youth matched on chronological age, biological sex, and gender participated. Results extend prior findings from studies of non-autistic adults, with non-autistic youth demonstrating responses in several similar regions as previously implicated in adult temporal processing of multisensory speech. Autistic youth demonstrated responses in fewer of the multisensory regions identified in adult studies; responses were limited to visual and motor cortices. Group responses in the middle temporal gyrus significantly interacted with age; younger autistic individuals showed reduced MTG responses whereas older individuals showed comparable MTG responses relative to non-autistic controls. Across groups, responses in the precuneus covaried with task accuracy, and anterior temporal and insula responses covaried with nonverbal IQ. These preliminary findings suggest possible differences in neural mechanisms of audiovisual processing in autistic youth while highlighting the need to consider participant characteristics in future, larger-scale studies exploring the neural basis of multisensory function in autism.
Subject(s)
Autistic Disorder , Speech Perception , Adult , Humans , Adolescent , Speech Perception/physiology , Autistic Disorder/diagnostic imaging , Brain Mapping , Speech , Brain/physiology , Magnetic Resonance Imaging , Visual Perception/physiology , Acoustic Stimulation , Auditory Perception/physiology , Photic StimulationABSTRACT
Background Differences in responding to sensory stimuli, including sensory hyperreactivity (HYPER), hyporeactivity (HYPO), and sensory seeking (SEEK) have been observed in autistic individuals across sensory modalities, but few studies have examined the structure of these "supra-modal" traits in the autistic population. Methods Leveraging a combined sample of 3,868 autistic youth drawn from 12 distinct data sources (ages 3-18 years and representing the full range of cognitive ability), the current study used modern psychometric and meta-analytic techniques to interrogate the latent structure and correlates of caregiver-reported HYPER, HYPO, and SEEK within and across sensory modalities. Bifactor statistical indices were used to both evaluate the strength of a "general response pattern" factor for each supra-modal construct and determine the added value of "modality-specific response pattern" scores (e.g., Visual HYPER). Bayesian random-effects integrative data analysis models were used to examine the clinical and demographic correlates of all interpretable HYPER, HYPO and SEEK (sub)constructs. Results All modality-specific HYPER subconstructs could be reliably and validly measured, whereas certain modality-specific HYPO and SEEK subconstructs were psychometrically inadequate when measured using existing items. Bifactor analyses unambiguously supported the validity of a supra-modal HYPER construct (ω H = .800), whereas a coherent supra-modal HYPO construct was not supported (ω H = .611), and supra-modal SEEK models suggested a more limited version of the construct that excluded some sensory modalities (ω H = .799; 4/7 modalities). Within each sensory construct, modality-specific subscales demonstrated substantial added value beyond the supra-modal score. Meta-analytic correlations varied by construct, although sensory features tended to correlate most strongly with other domains of core autism features and co-occurring psychiatric symptoms. Certain subconstructs within the HYPO and SEEK domains were also associated with lower adaptive behavior scores. Limitations: Conclusions may not be generalizable beyond the specific pool of items used in the current study, which was limited to parent-report of observable behaviors and excluded multisensory items that reflect many "real-world" sensory experiences. Conclusion Psychometric issues may limit the degree to which some measures of supra-modal HYPO/SEEK can be interpreted. Depending on the research question at hand, modality-specific response pattern scores may represent a valid alternative method of characterizing sensory reactivity in autism.
ABSTRACT
Differences in audiovisual integration are commonly observed in autism. Temporal binding windows (TBWs) of audiovisual speech can be trained (i.e., narrowed) in non-autistic adults; this study evaluated a computer-based perceptual training in autistic youth and assessed whether treatment outcomes varied according to individual characteristics. Thirty autistic youth aged 8-21 were randomly assigned to a brief perceptual training (n = 15) or a control condition (n = 15). At post-test, the perceptual training group did not differ, on average, on TBWs for trained and untrained stimuli and perception of the McGurk illusion compared to the control group. The training benefited youth with higher language and nonverbal IQ scores; the training caused widened TBWs in youth with co-occurring cognitive and language impairments.
Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Illusions , Speech Perception , Adult , Humans , Adolescent , Autistic Disorder/therapy , Autism Spectrum Disorder/therapy , Language , Visual Perception , Auditory Perception , Acoustic Stimulation , Photic StimulationABSTRACT
Interoception, the body's perception of its own internal states, is thought to be altered in autism, though results of empirical studies have been inconsistent. The current study systematically reviewed and meta-analyzed the extant literature comparing interoceptive outcomes between autistic (AUT) and neurotypical (NT) individuals, determining which domains of interoception demonstrate robust between-group differences. A three-level Bayesian meta-analysis compared heartbeat counting performance, heartbeat discrimination performance, heartbeat counting confidence ratings, and self-reported interoceptive attention between AUT and NT groups (15 studies; nAUT = 467, nNT = 478). Autistic participants showed significantly reduced heartbeat counting performance [g = - 0.333, CrI95% (- 0.535, - 0.138)] and higher confidence in their heartbeat counting abilities [g = 0.430, CrI95% (0.123, 0.750)], but groups were equivalent on other meta-analyzed outcomes. Implications for future interoception research in autism are discussed.
Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Interoception , Humans , Bayes Theorem , Attention , Heart Rate , Case-Control Studies , AwarenessABSTRACT
LAY ABSTRACT: Quality of Life an outcome that both researchers and autistic advocates agree is extremely important to consider when implementing services, interventions, and supports for autistic people. However, there has been little research on the topic of how quality of life can best be measured in autistic people or whether existing quality of life questionnaires are appropriate for use in the autistic population. This study aimed to validate an established quality of life measure, the Patient-Reported Outcomes Measurement Information System Global-10, in a large sample of autistic adults recruited online. We created a new way to score the Patient-Reported Outcomes Measurement Information System Global-10 scale and generate a "General quality of life" score specific to autistic adults. This new score performed very well in this sample, showing very little measurement error and relating in expected ways to similar constructs, such as physical health and emotional distress. Exploratory analyses found that lower quality of life was associated with female sex and self-identification as a sexual or gender minority (i.e. LGBTQ + identity). These findings suggest that the new Patient-Reported Outcomes Measurement Information System Global-10 quality of life score is a reliable and valid measure of quality of life in autistic adults, although additional studies are necessary to further explore its measurement properties in other subsets of the autistic population, such as individuals with intellectual disabilities. This measure is freely available for use as an outcome in both research and clinical practice, and an online score calculator is available to support the use of this measure in real-world applications.
Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Adult , Humans , Female , Quality of Life/psychology , Autistic Disorder/psychology , Psychometrics , Research Design , Autism Spectrum Disorder/psychology , Surveys and Questionnaires , Reproducibility of ResultsABSTRACT
PURPOSE: Caregivers of autistic children present with high stress levels, which have been associated with poorer child outcomes in several domains, including language development. However, prior to this study, it was unknown whether elevated caregiver stress was associated with language development in infant siblings of autistic children (Sibs-autism), who are at increased likelihood of receiving a future diagnosis of autism and/or language impairment compared to infant siblings of non-autistic children. This study explored the degree to which, as well as the mechanisms by which, caregiver stress was linked with later language outcomes of Sibs-autism and infant siblings of non-autistic children (Sibs-NA). METHOD: Participants were 50 infants (28 Sibs-autism; 22 Sibs-NA) aged 12-18 months at the first time point in this study (Time 1). Infants were seen again 9 months later, at 21-27 months of age (Time 2). Caregiver stress was measured via a validated self-report measure at Time 1. Caregiver language input, the putative mechanism by which caregiver stress may influence later language outcomes, was collected via two daylong recordings from digital recording (Language ENvironment Analysis) devices worn by the child at this same time point. Child language outcomes were measured via standardized and caregiver report measures at Time 2. RESULTS: Several models testing hypothesized indirect effects of caregiver stress on later child language outcomes through caregiver language input were statistically significant. Specifically, significant indirect effects suggest that (a) caregivers with increased stress tend to speak less to their infants, and (b) this reduced language input tends to covary with reduced child language outcomes later in life for Sibs-autism and Sibs-NA. CONCLUSIONS: This study provides new insights into links between caregiver stress, caregiver language input, and language outcomes in Sibs-autism and Sibs-NA. Further work is necessary to understand how to best support caregivers and optimize the language learning environments for infants. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.21714368.
Subject(s)
Autistic Disorder , Language Development Disorders , Child , Humans , Infant , Siblings , Child Development , Caregivers , Language Development Disorders/etiology , Language Development Disorders/diagnosisABSTRACT
Early differences in sensory responsiveness may contribute to difficulties with communication among autistic children; however, this theory has not been longitudinally assessed in infants at increased familial versus general population-level likelihood for autism (Sibs-autism vs. Sibs-NA) using a comprehensive battery of sensory responsiveness and communication. In a sample of 40 infants (20 Sibs-autism, of whom six were later diagnosed with autism; 20 Sibs-NA), we tested (a) associations between sensory responsiveness at 12-18 months and communication 9 months later and (b) evaluated whether such associations were moderated by sibling group, autism diagnosis, or age. We found negative zero-order correlations between sensory responsiveness (i.e., caregiver reported hyperresponsiveness and hyporesponsiveness; an observational measure of hyperresponsiveness) and later communication. Additionally, caregiver reported sensory seeking was negatively associated with later expressive communication only in Sibs-NA. Limitations include our relatively small sample size of infants diagnosed with autism. Implications for future research are discussed.
ABSTRACT
Misophonia is a newly described disorder of sound tolerance characterized by strong negative emotional reactions to specific "trigger" sounds, resulting in significant distress, pathological avoidance, and impairment in daily life. Research on misophonia is still in its infancy, and most existing psychometric tools for assessing misophonia symptoms have not been extensively validated. The purpose of the current study was to introduce and psychometrically validate the duke-vanderbilt Misophonia Screening Questionnaire (DVMSQ), a novel self-report measure of misophonia symptoms that can be used to determine misophonia "caseness" in clinical and research settings. Employing large online samples of general population adults (n = 1403) and adults on the autism spectrum (n = 936), we rigorously evaluated the internal structure, reliability, validity, and measurement invariance of the DVMSQ. Results indicated that 17 of the 20 original DVMSQ items fit well to a bifactor structure with one "general misophonia" factor and four specific factors (anger/aggression, distress/avoidance, impairment, and global impact). DVMSQ total and subscale scores were highly reliable in both general population and autistic adult samples, and the measure was found to be approximately invariant across age, sex, education level, and autism status. DVMSQ total scores also correlated strongly with another measure of misophonia symptoms (Duke Misophonia Questionnaire-Symptom Scale), with correlations between these two measures being significantly stronger than correlations between the DVMSQ and scales measuring other types of sound intolerance (Inventory of Hyperacusis Symptoms [General Loudness subscale] and DSM-5 Severity Measure for Specific Phobia [modified for phonophobia]). Additionally, DVMSQ items were used to operationalize diagnostic criteria for misophonia derived from the Revised Amsterdam Criteria, which were further updated to reflect a recent consensus definition of misophonia (published after the development of the DVMSQ). Using the new DVMSQ algorithm, 7.3% of general population adults and 35.5% of autistic adults met criteria for clinically significant misophonia. Although additional work is needed to further investigate the psychometric properties of the DVMSQ and validate its theory-based screening algorithm using best-estimate clinical diagnoses, this novel measure represents a potentially useful tool to screen for misophonia and quantify symptom severity and impairment in both autistic adults and the general population.
ABSTRACT
Looking to the mouth of a talker early in life predicts expressive communication. We hypothesized that looking at a talker's mouth may signal that infants are ready for increased supported joint engagement and that it subsequently facilitates prelinguistic vocal development and translates to broader gains in expressive communication. We tested this hypothesis in 50 infants aged 6-18 months with heightened and general population-level likelihood of autism diagnosis (Sibs-autism and Sibs-NA; respectively). We measured infants' gaze to a speaker's face using an eye tracking task, supported joint engagement during parent-child free play sessions, vocal complexity during a communication sample, and broader expressive communication. Looking at the mouth was indirectly associated with expressive communication via increased higher-order supported joint engagement and vocal complexity. This indirect effect did not vary according to sibling status. This study provides preliminary insights into the mechanisms by which looking at the mouth may influence expressive communication development.
ABSTRACT
Autistic children show reduced multisensory integration of audiovisual speech stimuli in response to the McGurk illusion. Previously, it has been shown that adults can integrate sung McGurk tokens. These sung speech tokens offer more salient visual and auditory cues, in comparison to the spoken tokens, which may increase the identification and integration of visual speech cues in autistic children. Forty participants (20 autism, 20 non-autistic peers) aged 7-14 completed the study. Participants were presented with speech tokens in four modalities: auditory-only, visual-only, congruent audiovisual, and incongruent audiovisual (i.e., McGurk; auditory 'ba' and visual 'ga'). Tokens were also presented in two formats: spoken and sung. Participants indicated what they perceived via a four-button response box (i.e., 'ba', 'ga', 'da', or 'tha'). Accuracies and perception of the McGurk illusion were calculated for each modality and format. Analysis of visual-only identification indicated a significant main effect of format, whereby participants were more accurate in sung versus spoken trials, but no significant main effect of group or interaction effect. Analysis of the McGurk trials indicated no significant main effect of format or group and no significant interaction effect. Sung speech tokens improved identification of visual speech cues, but did not boost the integration of visual cues with heard speech across groups. Additional work is needed to determine what properties of spoken speech contributed to the observed improvement in visual accuracy and to evaluate whether more prolonged exposure to sung speech may yield effects on multisensory integration.
Subject(s)
Autistic Disorder , Singing , Speech Perception , Child , Humans , Auditory Perception/physiology , Illusions/physiology , Speech Perception/physiology , Visual Perception/physiology , AdolescentABSTRACT
Children with autism show alterations in multisensory integration that have been theoretically and empirically linked with the core and related features of autism. It is unclear, however, to what extent multisensory integration maps onto features of autism within children with and without autism. This study, thus, evaluates relations between audiovisual integration and core and related autism features across children with and without autism. Thirty-six children reported perceptions of the McGurk illusion during a psychophysical task. Parents reported on participants' autistic features. Increased report of illusory percepts tended to covary with reduced autistic features and greater communication skill. Some relations, though, were moderated by group. This work suggests that associations between multisensory integration and higher-order skills are present, but in some instances vary according to diagnostic group.
Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Illusions , Acoustic Stimulation , Autistic Disorder/diagnosis , Child , Communication , Humans , Visual PerceptionABSTRACT
It has been challenging to elucidate the differences in brain structure that underlie behavioral features of autism. Prior studies have begun to identify patterns of changes in autism across multiple structural indices, including cortical thickness, local gyrification, and sulcal depth. However, common approaches to local gyrification indexing used in prior studies have been limited by low spatial resolution relative to functional brain topography. In this study, we analyze the aforementioned structural indices, utilizing a new method of local gyrification indexing that quantifies this index adaptively in relation to specific sulci/gyri, improving interpretation with respect to functional organization. Our sample included n = 115 autistic and n = 254 neurotypical participants aged 5-54, and we investigated structural patterns by group, age, and autism-related behaviors. Differing structural patterns by group emerged in many regions, with age moderating group differences particularly in frontal and limbic regions. There were also several regions, particularly in sensory areas, in which one or more of the structural indices of interest either positively or negatively covaried with autism-related behaviors. Given the advantages of this approach, future studies may benefit from its application in hypothesis-driven examinations of specific brain regions and/or longitudinal studies to assess brain development in autism.
Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Adolescent , Adult , Autism Spectrum Disorder/diagnostic imaging , Autistic Disorder/diagnostic imaging , Brain , Cerebral Cortex , Child , Child, Preschool , Humans , Magnetic Resonance Imaging/methods , Middle Aged , Young AdultABSTRACT
BACKGROUND: Individuals on the autism spectrum are reported to display alterations in interoception, the sense of the internal state of the body. The Interoception Sensory Questionnaire (ISQ) is a 20-item self-report measure of interoception specifically intended to measure this construct in autistic people. The psychometrics of the ISQ, however, have not previously been evaluated in a large sample of autistic individuals. METHODS: Using confirmatory factor analysis, we evaluated the latent structure of the ISQ in a large online sample of adults on the autism spectrum and found that the unidimensional model fit the data poorly. Using misspecification analysis to identify areas of local misfit and item response theory to investigate the appropriateness of the seven-point response scale, we removed redundant items and collapsed the response options to put forth a novel eight-item, five-response choice ISQ. RESULTS: The revised, five-response choice ISQ (ISQ-8) showed much improved fit while maintaining high internal reliability. Differential item functioning (DIF) analyses indicated that the items of the ISQ-8 were answered in comparable ways by autistic adolescents and adults and across multiple other sociodemographic groups. LIMITATIONS: Our results were limited by the fact that we did not collect data for typically developing controls, preventing the analysis of DIF by diagnostic status. Additionally, while this study proposes a new 5-response scale for the ISQ-8, our data were not collected using this method; thus, the psychometric properties for the revised version of this instrument require further investigation. CONCLUSION: The ISQ-8 shows promise as a reliable and valid measure of interoception in adolescents and adults on the autism spectrum, but additional work is needed to examine its psychometrics in this population. A free online score calculator has been created to facilitate the use of ISQ-8 latent trait scores for further studies of autistic adolescents and adults (available at https://asdmeasures.shinyapps.io/ISQ_score/ ).
Subject(s)
Autistic Disorder , Interoception , Adolescent , Adult , Autistic Disorder/diagnosis , Humans , Psychometrics , Reproducibility of Results , Surveys and QuestionnairesABSTRACT
Purpose Differences in communication development impact long-term outcomes of children with autism. Previous research has identified factors associated with communication in children with autism, but much of the variance in communication skill remains unexplained. It has been proposed that early differences in sensory responsiveness (i.e., hyporesponsiveness, hyperresponsiveness, and sensory seeking) may produce "cascading effects" on communication. Evidence for this theory is limited, however, as relations between sensory responsiveness and communication in the earliest stages of development have not been well established. The purpose of this study was to evaluate (a) whether infants with a heightened likelihood of autism diagnosis (i.e., infants with an older sibling with autism) differ from infants at general population-level likelihood of autism (i.e., infants with an older, nonautistic sibling) on patterns of sensory responsiveness, (b) whether early sensory responsiveness is correlated with concurrent communication, and (c) whether the aforementioned between-groups differences and associations are moderated by age. Method Participants were 40 infants (20 infants with an older sibling with autism, 20 infants with an older, nonautistic sibling) aged 12-18 months. A series of observational and parent report measures of sensory responsiveness and communication skill were administered. Results Group differences in sensory responsiveness across the 12- to 18-month period were limited (i.e., only observed for one measure of hyporesponsiveness), though selected differences in sensory responsiveness (i.e., parent-reported hyperresponsiveness and sensory seeking) emerged between groups over this developmental window. Parent-reported hyporesponsiveness was unconditionally, negatively associated with communication skills. Associations between expressive communication and (a) parent-reported sensory seeking and (b) an observational measure of hyperresponsiveness were moderated by age. Conclusions This study provides new insights into the nature of sensory responsiveness and theorized links with communication skill in infants at elevated and general population-level likelihood of autism diagnosis. Further work is needed to better characterize the effects of interest in a larger sample spanning a wider age range. Supplemental Material https://doi.org/10.23641/asha.14515542.
Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Child , Child Development , Communication , Humans , Infant , SiblingsABSTRACT
Background: Altered dopamine (DA) signaling has been associated with autism spectrum disorder (ASD), a neurodevelopmental condition estimated to impact 1 in 54 children in the United States. There is growing evidence for alterations in both gastrointestinal function and oral microbiome composition in ASD. Recent work suggests that rare variants of the SLC6A3 gene encoding the DA transporter (DAT) identified in individuals with ASD result in structural and functional changes to the DAT. One such recently identified de novo mutation is a threonine to methionine substitution at position 356 of the DAT (DAT T356M). The DAT T356M variant is associated with ASD-like phenotypes in mice homozygous for the mutation (DAT T356M+/+), including social deficits, hyperactivity, and impaired DA signaling. Here, we determine the impact of this altered DA signaling as it relates to altered oral microbiota, and metabolic and gastrointestinal dysfunction. Methods: In the DAT T356M+/+ mouse, we determine the oral microbiota composition, metabolic function, and gastrointestinal (GI) function. We examined oral microbiota by 16S RNA sequencing. We measured metabolic function by examining glucose tolerance and we probed gastrointestinal parameters by measuring fecal dimensions and weight. Results: In the DAT T356M+/+ mouse, we evaluate how altered DA signaling relates to metabolic dysfunction and altered oral microbiota. We demonstrate that male DAT T356M+/+ mice weigh less (Wild type (WT) = 26.48 ± 0.6405 g, DAT T356M+/+ = 24.14 ± 0.4083 g) and have decreased body fat (WT = 14.89 ± 0.6206%, DAT T356M+/+ = 12.72 ± 0.4160%). These mice display improved glucose handling (WT = 32.60 ± 0.3298 kcal/g, DAT T356M+/+ = 36.97 ± 0.4910 kcal/g), and an altered oral microbiota. We found a significant decrease in Fusobacterium abundance. The abundance of Fusobacterium was associated with improved glucose handling and decreased body fat. Conclusions: Our findings provide new insights into how DAT dysfunction may alter gastrointestinal function, composition of the oral microbiota, and metabolism. Our data suggest that impaired DA signaling in ASD is associated with a number of metabolic and gastrointestinal changes which are common in individuals with ASD.
ABSTRACT
Purpose Hyperacusis is a complex and poorly understood auditory disorder characterized by decreased tolerance to sound at levels that would not trouble most individuals. Recently, it has been suggested that individuals who experience otalgia in response to everyday sounds (termed pain hyperacusis) may differ clinically from those whose primary symptom is the perception of everyday sounds as excessively loud (termed loudness hyperacusis). Despite this theoretical distinction, there have been no empirical studies directly comparing these two populations of hyperacusis patients. Method Using data from a multinational patient registry (the Coordination of Rare Diseases at Sanford Registry), we examined self-reported demographics, symptoms, comorbidity, and response to treatment in a sample of 243 adults with hyperacusis, 152 of whom were classified as having pain hyperacusis based on reported symptoms. Bayesian statistical tests were used to investigate both the presence and absence of group differences between patients with loudness and pain hyperacusis. Results Individuals with pain hyperacusis presented with a more severe clinical phenotype, reporting a higher frequency of temporary symptom exacerbations (i.e., "setbacks"), less perceived symptom improvement over time, more severe comorbid headache disorders, and reduced benefit from sound therapy. However, the two hypothesized hyperacusis subtypes exhibited more similarities than differences, with the majority of symptoms and comorbidities being equally prevalent across groups. Multiple comorbidities were commonly observed, including tinnitus, primary headache disorders, psychiatric disorders, and functional somatic syndromes. Intolerance of sensory stimuli in other modalities was also frequently reported. Conclusion Although this study provides little evidence that loudness and pain hyperacusis are pathophysiologically distinct conditions, our findings indicate that a pain-predominant phenotype may be a meaningful prognostic marker in patients with hyperacusis.