Underidentification of Autism Spectrum Disorder in Females: A Case Series Illustrating the Unique Presentation of this Disorder in Young Women

Autism spectrum disorder (ASD) is diagnosed more often in males than females, with the male-to-female gender ratio reported to be around 4.3:1 to 5:1. It is possible that the underrecognition of ASD in females partially contributes to this uneven ratio. Recent attention has been placed on understanding the processes that give rise to this gender difference in ASD prevalence. Socialization may contribute to the unique presentation of ASD in females, which may underlie this condition's subsequent underidentification in this group.The purpose of this case series is to demonstrate how symptoms of ASD may uniquely manifest in females without co-occurring intellectual impairment.An examination of three case examples of young women diagnosed with ASD will illustrate the processes that contribute to the atypical manifestation and underidentification of ASD in females.Across cases, the females in this study demonstrated shared symptom presentations within three domains: 1) unique core symptom manifestation (insistence on sameness, lack of social engagement, and social processing difficulties); 2) heightened psychiatric comorbidities with internalizing disorders (anxiety, depression, and borderline personality traits); and 3) emotional dysregulation. These three domains reflect specific processes that may help to explain the underidentification of ASD in females via diagnostic overshadowing.Consideration of atypical symptom presentations, heightened comorbidities, and emotion regulation difficulties may help with the understanding of why ASD symptoms in females are commonly underidentified or identified later than they are in males. Social difficulties in combination with internalizing psychiatric disorders and emotional dysregulation may lead to the development of a specific symptom presentation in females that obscures the detection of ASD symptoms. Suggestions for clinical practice are made to promote the accurate identification of ASD and to inform case formulation and treatment planning

Role of Primary Care Clinician Concern During Screening for Early Identification of Autism

ObjectiveThe aim of this study was to evaluate the added value of primary care clinician (PCC)-indicated concern during primary care universal standardized screening in early identification of autism.MethodsToddlers were screened for autism during primary care checkups (n = 7,039, aged 14.24-22.43 months) in 2 studies. Parents completed the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up. For each participant, PCCs indicated whether they had autism concerns (optional in 1 study-before or after viewing screening results, required before viewing screen results in the other). Children at high likelihood for autism from screen result and/or PCC concern (n = 615) were invited for a diagnostic evaluation; 283 children attended the evaluation.ResultsRates of PCC-indicated autism concerns were similar whether PCCs were required or encouraged to indicate concerns. High likelihood of autism indication on both screen and PCC concern resulted in the highest positive predictive value for autism and positive predictive value for any developmental disorder, as well as the highest evaluation attendance, with no significant difference between the positive screen-only and PCC concern-only groups. Although the frequency of PCC-indicated autism concern did not differ significantly based on the child's cognitive level, PCCs were more likely to identify children with more obvious autism characteristics compared with more subtle autism characteristics as having autism.ConclusionThe findings support the recommendation of the American Academy of Pediatrics that both screening and surveillance for autism be incorporated into well-child visits. High likelihood of autism on either screen or PCC concern should trigger a referral for an evaluation

Sex differences in early autism screening using the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT-R/F)

Lay abstractThis study examined a widely used autism screening tool, the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up to identify differences in screening for autism between toddler males and females. Examining sex differences in screening for autism in toddlerhood is important as it determines who will be referred for evaluations and receive diagnoses, which is critical for access to autism-specific early intervention. This study found that females were less likely to screen positive and be invited for evaluations compared with males. Females at high likelihood for autism were less likely to be diagnosed with autism, which decreases confidence in the screener's results. Importantly, the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up accurately identified both males and females with autism. Future research should examine ways to improve accuracy in screening results for females

Critical Examination of Autism Screening Tools: A Reply to Øien

We thank Dr. Øien for his comments on the relevance and implications of our cluster randomized controlled trial (RCT) in his editorial, "Editorial: The Critical Examination of Autism Screening Tools: A Call for Addressing False Negatives."1

The Natural Statistics of Audiovisual Speech

Humans, like other animals, are exposed to a continuous stream of signals, which are dynamic, multimodal, extended, and time varying in nature. This complex input space must be transduced and sampled by our sensory systems and transmitted to the brain where it can guide the selection of appropriate actions. To simplify this process, it's been suggested that the brain exploits statistical regularities in the stimulus space. Tests of this idea have largely been confined to unimodal signals and natural scenes. One important class of multisensory signals for which a quantitative input space characterization is unavailable is human speech. We do not understand what signals our brain has to actively piece together from an audiovisual speech stream to arrive at a percept versus what is already embedded in the signal structure of the stream itself. In essence, we do not have a clear understanding of the natural statistics of audiovisual speech. In the present study, we identified the following major statistical features of audiovisual speech. First, we observed robust correlations and close temporal correspondence between the area of the mouth opening and the acoustic envelope. Second, we found the strongest correlation between the area of the mouth opening and vocal tract resonances. Third, we observed that both area of the mouth opening and the voice envelope are temporally modulated in the 2–7 Hz frequency range. Finally, we show that the timing of mouth movements relative to the onset of the voice is consistently between 100 and 300 ms. We interpret these data in the context of recent neural theories of speech which suggest that speech communication is a reciprocally coupled, multisensory event, whereby the outputs of the signaler are matched to the neural processes of the receiver

Monkeys and Humans Share a Common Computation for Face/Voice Integration

Speech production involves the movement of the mouth and other regions of the face resulting in visual motion cues. These visual cues enhance intelligibility and detection of auditory speech. As such, face-to-face speech is fundamentally a multisensory phenomenon. If speech is fundamentally multisensory, it should be reflected in the evolution of vocal communication: similar behavioral effects should be observed in other primates. Old World monkeys share with humans vocal production biomechanics and communicate face-to-face with vocalizations. It is unknown, however, if they, too, combine faces and voices to enhance their perception of vocalizations. We show that they do: monkeys combine faces and voices in noisy environments to enhance their detection of vocalizations. Their behavior parallels that of humans performing an identical task. We explored what common computational mechanism(s) could explain the pattern of results we observed across species. Standard explanations or models such as the principle of inverse effectiveness and a “race” model failed to account for their behavior patterns. Conversely, a “superposition model”, positing the linear summation of activity patterns in response to visual and auditory components of vocalizations, served as a straightforward but powerful explanatory mechanism for the observed behaviors in both species. As such, it represents a putative homologous mechanism for integrating faces and voices across primates

Eye-Gaze Analyis of Facial Emotion Expression in Adolescents with ASD

Prior research has shown that both emotion recognition and expression in children with Autism Spectrum Disorder (ASD) differs from that of typically developing children, and that these differences may contribute to observed social impairment. This study extends prior research in this area with an integrated examination of both expression and recognition of emotion, and evaluation of spontaneous generation of emotional expression in response to another person's emotion, a behavior that is characteristically deficient in ASD. The aim of this study was to assess eye gaze patterns during scripted and spontaneous emotion expression tasks, and to assess quality of emotional expression in relation to gaze patterns. Youth with ASD fixated less to the eye region of stimuli showing surprise (F(1,19.88) = 4.76, p = .04 for spontaneous task; F(1,19.88) = 3.93, p = .06 for the recognition task), and they expressed emotion less clearly than did the typically developing sample (F(1, 35) = 6.38, p = .02) in the spontaneous task, but there was not a significant group difference in the scripted task across the emotions. Results do not, however, suggest altered eye gaze as a candidate mechanism for decreased ability to express an emotion. Findings from this research inform our understanding of the social difficulties associated with emotion recognition and expression deficits.Master of Scienc

Attention Modification to Attenuate Facial Emotion Recognition Deficits in Children with ASD

Prior studies have identified diminished attending to faces, and in particular the eye region, in individuals with Autism Spectrum Disorder (ASD), which may contribute to the impairments they experience with emotion recognition and expression. The current study evaluated the acceptability, feasibility, and preliminary effectiveness of an attention modification intervention designed to attenuate deficits in facial emotion recognition and expression in children with ASD. During the 10-session experimental treatment, children watched videos of people expressing different emotions with the facial features highlighted to guide children's attention. Eight children with ASD completed the treatment, of nine who began. On average, the children and their parents rated the treatment to be acceptable and helpful. Although treatment efficacy, in terms of improved facial emotion recognition (FER), was not apparent on task-based measures, children and their parents reported slight improvements and most parents indicated decreased socioemotional problems following treatment. Results of this preliminary trial suggest that further clinical research on visual attention retraining for ASD, within an experimental therapeutic program, may be promising.PHDPrevious studies have shown that individuals with Autism Spectrum Disorder (ASD) show lower looking at faces, especially the eyes, which may lead to the difficulties they show with ability to recognize other’s emotions and express their own emotions. This study looked at a new treatment designed to decrease the difficulties in emotion recognition and expression in children with ASD. The study looked at whether the treatment is possible, acceptable to children and their parents, and successful in decreasing the difficulty with emotion recognition. During the 10-session treatment, children watched videos of people making different expressions. The faces of the actors in the videos were highlighted to show the children the important area to look at. Eight children with ASD completed the treatment, of nine who started the treatment. On average, the children and their parents said that the treatment is acceptable and helpful. While the treatment was not successful in improving ability to recognize emotions on other’s faces on several tasks, children and their parents reported slight improvements. In addition, most parents reported less problems with social skills and emotion recognition and expression after the treatment. These results suggest that more clinical research may be needed to evaluate usefulness of such attention retraining for children with ASD