Autism research : official journal of the International Society for Autism Research最新文献

At least one third of autistic people have limited or no speech. Most nonspeaking autistic people are never provided alternatives that would enable the full range of expression that speech allows, significantly limiting their access to educational, social, and employment opportunities. In this commentary, we argue that assisted methods to teach nonspeaking autistic people to type-long dismissed because the assistant could influence the text they produce during training-warrant fresh study. Although these teaching methods developed in practice rather than research, the practice (including the range of support the assistant provides in the motor, sensory, and attentional domains) is aligned with contemporary research about nonspeaking autistic people's strengths and challenges. We suggest that past research showing that influence can occur during training has been over-interpreted to mean that influence always occurs and that nonspeaking autistic people instructed using assisted methods never learn to type independently. In fact, other research shows that influence does not always occur, and there are independent typers who attribute their skill to the range of assistance they received during training. We believe it is time to revisit assisted methods to teach typing in order to understand their potential, as well as their limits, including how successful learners became independent and for whom these methods would be a good match. These efforts have the potential to result in greater access to effective communication and better quality of life for more nonspeaking autistic people.

This study aimed to synthesize evidence on the risk and patterns of abnormal pubertal timing, including precocious puberty (PP) and altered onset, in children with autism spectrum disorder (ASD) compared with typically developing (TD) peers. We conducted a systematic review and meta-analysis following the PRISMA guidelines, searching PubMed (n = 51), Web of Science (n = 91), and Cochrane Library (n = 19). After removing duplicates (n = 40), we screened 121 records and assessed 31 full-text articles, with 12 meeting the inclusion criteria (3 cohort studies on PP; 9 cohort studies on pubertal timing). Random-effects meta-analyses were performed to calculate pooled hazard ratios (HRs) for PP and standardized mean differences (SMDs) for pubertal timing. Study quality was assessed using the Newcastle-Ottawa Scale (NOS). Meta-analysis of three studies (42,017 ASD children; 3,424,004 TD children) revealed a significantly higher risk of PP in ASD children (pooled HR = 3.64; 95% CI: 1.42-9.34; P = 0.007), with an absolute risk difference of 1.13% (prevalence: 1.2% in ASD vs. 0.07% in TD), indicating that 88 ASD children would need monitoring to identify one additional case of PP; this risk was particularly pronounced in females with ASD. In contrast, nine studies (856 ASD children; 648 TD children) found no significant overall difference in pubertal timing (SMD = -0.22; 95% CI: -0.91-0.46; P = 0.52), despite high heterogeneity (I² = 96%). Funnel plot asymmetry suggested potential publication bias or methodological variations (e.g., confounder adjustments, diagnostic criteria). Sensitivity analysis confirmed the association between ASD and PP but highlighted instability in the effect size. Children with ASD exhibit a 3.6-fold increased relative risk of PP, particularly in females, though the absolute prevalence is low and the certainty of evidence is very low (per Grading of Recommendations Assessment, Development and Evaluation [GRADE] criteria), primarily due to high heterogeneity (I² = 91%-96%) and potential biases. No consistent differences in pubertal timing were observed between ASD and TD children, likely reflecting methodological inconsistencies. Clinicians should enhance vigilance for PP in ASD children, without the need for routine screening. Future studies should adopt standardized, multi-method assessments to refine these findings.

This study examined the spontaneous play behaviors of Mandarin-speaking preschool children with autism spectrum disorder (ASD), developmental delay (DD), and typical development (TD) during naturalistic parent-child interactions. Ninety children aged 36-72 months (30 per group) participated in a 15-min parent-child free-play session, and a standardized 10-min segment from each session (minutes 3-13) was coded and analyzed. Play behaviors were coded using a fine-grained developmental framework and analyzed using both unidimensional (duration and frequency) and multidimensional (variety, highest mastered play level and weighted average mastered play levels) indicators. After adjusting for FSIQ, spontaneous play duration (F(2, 86) = 14.54, p < 0.001, η² = 0.25) and weighted average mastered play level (WA-MPL; F(2, 86) = 3.67, p = 0.03, η² = 0.08) differentiated the ASD group from both the TD and DD groups. In contrast, symbolic play in this naturalistic context was more closely associated with cognitive level than with diagnostic status. At the subcategory level, Varied Action Sequences (VS) emerged as a particularly informative high-level form of pre-symbolic play: children with ASD showed lower VS frequency than both TD and DD peers, and reduced VS variety relative to the DD group. These findings underscore the importance of multidimensional assessment and fine-grained coding for capturing distinct play profiles in ASD and informing developmentally appropriate intervention targets.

Social relationships are a key component of quality of life, a high-priority outcome for autistic people, and family relationships are critical in adolescence. The PROMIS Family Relationships scale has been well validated for use with the general population, but psychometric validation in the autistic population is lacking. This study investigated measurement invariance of the PROMIS Family Relationships among autistic and general population adolescents. The scale demonstrated scalar invariance between the groups, providing evidence that it measures the same construct equivalently and scores can be meaningfully compared between groups. With a well-validated self-report measure, researchers can ask autistic teens directly about their experiences of their family relationships, rather than relying solely on parent proxy report.

Inclusive education is largely promoted in the field of autism spectrum disorders (ASD), but scientific and empiric studies about the impact of school inclusion on the children's outcome are lacking. We studied the effect of the type of inclusion (regular classroom vs. special education classroom) in a sample of 356 children with ASD over a three-years period. Results first showed that, when comparing both groups at baseline, children in special education classes were older, had a higher level of challenging behaviors and came from lower socioeconomic status families. Once matched through propensity score, children in special classrooms had significantly lower communication and daily living skills than children in ordinary classrooms after 3 years, whereas there was no significant difference in socialization skills and in IQ. Overall, placement in a regular education classroom was positive for most children, however there is a high inter-individual variability and it is very unlikely that inclusive settings are by default superior for all children with special needs. These results, emphasizing the crucial role of the mainstream milieu, cannot be considered definitive and further studies are needed to address this critical educational policy issue. Trial Registration: ClinicalTrials.gov identifier: NCT02625116.

This study aimed to create a machine learning-based predictive model for early detection of autism spectrum disorder (ASD) in infants using acoustic features. Conducted as a prospective cohort at Nanjing Medical University from 2019 to 2024, infants aged 9-18 months from an ASD sibling cohort participated. Behavioral and vocalization data were gathered during the Still-Face Paradigm, with ASD diagnoses confirmed at 36 months through ADOS and ADI-R assessments. Researchers extracted 4368 acoustic features from the recordings and applied LASSO regression for dimensionality reduction, identifying 39 key features. A support vector machine (SVM) classifier was then developed, tested with four kernel functions-linear, radial basis function, polynomial, and sigmoid-via tenfold cross-validation. The final sample included 88 infants, 28 of whom were diagnosed with ASD. The sigmoid kernel yielded the best results, achieving a 92.86% sensitivity, 93.33% specificity, and a 93.18% accuracy. Notably, spectral and energy-related features were significantly higher in ASD infants (p < 0.01). These findings suggest that acoustic features can serve as early, noninvasive biomarkers for ASD, and the SVM model demonstrates significant promise for early screening and intervention efforts.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social interaction difficulties and restricted, repetitive behaviors. Recent ASD biomarker discovery efforts have found that cerebrospinal fluid (CSF) concentration of vasopressin, a hypothalamic neuropeptide critical for mammalian social functioning, is significantly lower in children with ASD and newborns later diagnosed with ASD. Low CSF vasopressin concentration is also linked to ASD social (but not repetitive) behavior symptom severity. These findings suggest that CSF vasopressin measurement may have clinical utility, but CSF surveillance requires invasive sampling procedures that will be difficult to integrate into routine clinical care without strong justification (i.e., CSF vasopressin is a valid proxy for hypothalamic vasopressin production, whereas blood vasopressin is not). We therefore obtained neuropathological specimens and patient data (N = 18) to investigate this possibility. In Study 1, we capitalized on the unique opportunity to test the reproducibility and robustness of the relationship between CSF vasopressin concentration and ASD behavioral symptoms in a sample demographically and methodologically distinct from prior work. This relationship held across age, antemortem to postmortem biospecimens, quantification platforms, clinical instruments, evaluators, and symptom type. In Study 2, we found in concomitantly collected postmortem samples that CSF vasopressin concentration significantly and positively predicted hypothalamic vasopressin gene expression, whereas blood vasopressin concentration did not. These findings establish CSF vasopressin as a brain-derived, mechanistically relevant biomarker of social difficulties in ASD, and suggest that CSF vasopressin measurement may be useful for ASD detection and/or identification of individuals who will benefit from pharmacological enhancement of brain vasopressin signaling.

The Behavioral Inhibition System and Behavioral Activation System (BIS/BAS) Scales offer a framework for assessing individual differences in sensitivity to reward and punishment-processes theorized to underlie key autism features. Despite widespread use, the psychometric properties of the BIS/BAS Scales have yet to be evaluated in the autistic population. Therefore, this study sought to evaluate the factor structure and psychometric properties of the BIS/BAS Scales in a sample of children and adolescents with autism. Parents of N = 709 autistic youth (M_age [SD] = 11.22 years [3.54]; 75% male) completed the BIS/BAS Scales alongside additional convergent/divergent validity measures. Factor structures ranging from one to eight specific factors were tested, including bifactor and hierarchical models with and without general factors. Measurement invariance was assessed across age groups (< 12 years vs. ≥ 12 years) and gender. Convergent and divergent validity were evaluated using bivariate correlations. Results indicated that a five-factor bifactor model-comprising general BIS and BAS dimensions alongside specific BIS-Fight/Flight/Freezing, BIS-Worry, BAS-Drive, BAS-Reward Responsiveness, and BAS-Fun Seeking factors-exhibited best fit and measurement invariance. Factors showed strong construct validity through correlations with emotion problems, risk avoidance, response inhibition, neuroticism, shyness, activity, and extraversion. Findings support the BIS/BAS Scales as a psychometrically sound measure of reward and punishment sensitivity in autistic youth. Further research is needed to confirm model generalizability, structural stability, and measurement invariance across both clinical and non-clinical populations.

Differences in sensorimotor processing represent an important, yet underrecognized, feature of autism; typically assessed through subjective observations, which, although important, are susceptible to biases. To complement these observations, a more objective approach to assess sensorimotor function may be possible through reflex-based neurobehavioral evaluations. The clinical application of these assessments has, however, been largely confined to laboratory settings. Thus, small sample sizes and inconsistent findings have made it challenging to understand how sensorimotor function differs in autism and whether it can be used as an objective biomarker for diagnostics. Here we present a novel smartphone-based platform to conduct neurobehavioral evaluations by measuring facial and behavioral responses in at-home environments. Through a multi-center study, we explored the platform's ability to distinguish between children with and without autism. We enrolled 536 children aged 3-12 years. BlinkLab smartphone-based assessments were successfully completed in 431 children (80.4%), including 275 with autism and 156 neurotypical children. We found that autistic children showed altered sensorimotor responses across multiple domains. These included reduced prepulse inhibition (PPI), stronger startle habituation over the course of a PPI test, more variable eyeblink responses to auditory stimuli and significant sensitization. Additionally, children with autism displayed more screen avoidance, postural instability, head movements, mouth openings, non-syllabic vocalizations, horizontal pupil shifts, "side-eyeing", and variation in baseline eyelid opening. Exploratory analyses showed that these effects were largely independent of co-occurring conditions. Notably, co-occurrence did influence certain subdomains (e.g., PPI, mouth openings). These findings illustrate that smartphone-based assessments can capture distinct sensorimotor profiles associated with autism in real-world environments.