Pubmed du 20/02/24
1. Albores-Gallo L. Registry of autism in Latinamericans. Salud Publica Mex. 2024; 66(6 (nov-dec)): 891.
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2. Aldosiry N. Support and services targeting young adults with intellectual and developmental disabilities and their families in Saudi Arabia. Acta Psychol (Amst). 2025; 254: 104813.
BACKGROUND: Individuals with intellectual and developmental disabilities (IDD) require appropriate and adequate services and support to maximize their skills, live independently, and participate in a community. When they receive adequate care and family support, individuals with IDD can potentially live at home instead of availing themselves of alternative care, particularly institutional care. OBJECTIVE: This national study examines the social support and services available to both young adults with IDD and their families in Saudi Arabia, perceived individual outcomes, and satisfaction with the currently available services. METHOD: This study adopted a cross-sectional survey approach, collecting data from 783 families of young adults with IDD aged 16-25 years. RESULTS: Respondents revealed low availability of 19 types of services and support, particularly respite care and transition services. Further, outcomes associated with existing services were perceived to be low, particularly their ability to make choices and decisions. Most respondents were also dissatisfied with different service aspects. In particular, they reported low levels of satisfaction with service coordination, availability of choice, and quality. A strong positive relationship was found between service availability and individual outcomes. Additionally, the availability of self-determination training services was associated with decision-making as an outcome; friendship and relationship outcomes were correlated with participation in community activities; and service quality was moderately positively related to service choices. CONCLUSIONS: This study reveals the inadequacy of service availability and highlights the perceptions of low levels of individual outcomes and service satisfaction. Therefore, services targeting individuals with IDD and their families require considerable improvement.
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3. Azevedo M, Lousada M, Martins A. The clinical practice of speech and language therapists with preschool-age children with syntactic impairment. Int J Lang Commun Disord. 2025; 60(2): e70012.
BACKGROUND: Children with syntactic impairment associated with autism spectrum disorder and developmental language disorder benefit from speech and language therapy intervention. Despite that, few studies focus on the clinical practice of the speech and language therapist (SLT). AIM: The aim of the study is to explore the clinical practice of SLTs with preschool-age children with syntactic impairment. METHODS & PROCEDURES: A cross-sectional survey was carried out in Portugal, using a questionnaire designed specifically for this study. The survey is composed of 109 questions divided into eight sections. A total of 357 participants responded, representing 10% of the total population of SLTs in Portugal. OUTCOMES & RESULTS: Considering the academic background, 46% of SLTs held a master’s degree and only 19% attended complementary training in syntax. Regarding professional experience, 92% of SLTs work with preschool-age children with syntactic impairment. Between 89% and 91% of the SLTs report that they have never used any specific program, method or approach for syntactic intervention. Over 40% of SLTs report not feeling confident in assessing syntactic skills, while 43% report not feeling confident in intervening. Between 92% and 98% of SLTs report the need to obtain more academic knowledge and practical training. CONCLUSIONS & IMPLICATIONS: In Portugal, there seems to be a lack of scientific evidence regarding the procedures used in the clinical practice of SLTs in preschool-age children with syntactic impairment. This fact may relate to the need felt by SLTs for more academic and practical training. The current findings highlight the need to address training in syntactic disorder within graduate and postgraduate programs. WHAT THIS PAPER ADDS: What is already known on the subject Children with autism spectrym disorder (ASD) and children with developmental language disorder (DLD) experience language disorders, which in turn may have an impact on their socialisation and behaviour, namely when they have syntactic impairment. It is proven that these children benefit from speech and language therapy. Several studies analyse the effectiveness of assessment and intervention procedures in speech and language therapy, defining evidence-based best practices. Thus, there is a lot of research into how SLTs should conduct assessment and intervention. There is, however, little research about SLTs clinical practices. What this paper adds to existing knowledge This study paints a broad picture of the clinical practice of SLTs in Portugal, bringing insights specifically into their syntactic domain assessment and intervention practices with preschool-age children. This study also serves to identify the perceived needs of SLTs regarding the syntactic domain, related to academia, complementary training and day-to-day practice in the assessment and intervention of these children. What are the potential or actual clinical implications of this work? There are some studies of the assessment and intervention clinical practices of SLTs as well as methods, programs and approaches for syntactic impairment clinical practice with preschool-age children with ASD and children with DLD. However, most of the studies are for the English language. Through this study, it was understood that SLTs in Portugal have a low level of confidence in assessing and intervening with this population. SLTs have identified the need for additional training and theoretical knowledge which can contribute to the adaptation of current academic curricula and broaden the complementary training opportunities.
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4. Bardoni B, Gwizdek C, Maurin T. How close are we to a cAMP- and cGMP-theory-based pharmacological therapy for fragile X syndrome?. Cell Rep Med. 2025; 6(2): 101972.
Recent advances in targeting cAMP and cGMP pathways offer hope for treating fragile X syndrome, a leading cause of inherited intellectual disability. PDE4 and PDE2 inhibitors have shown promise in animal models, improving memory, social behavior, and cognitive function. Clinical trials are underway, raising optimism for future therapies.
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5. Brennan J, Velasquez MJ, Davis TE. A Systematic Review of Family Accommodation in Autistic Youth: Anxiety Disorders, Obsessive-Compulsive Disorder, and Restricted and Repetitive Behaviors. J Autism Dev Disord. 2025.
Family accommodation (FA) is a term describing the change in behavior seen in parents and caregivers as they attempt to effect change in their child or adolescent’s anxious behavior-usually by allowing avoidance, attempting distraction, or attempting to manage distress. FA has been well-documented in children and adolescents with anxiety and obsessive-compulsive disorders; however, there has been less summarized on the degree to which autistic youth and families engage in accommodation. This review aims to establish the phenomenology of FA in autistic youth related to comorbid anxiety, obsessive-compulsive disorders, and restricted and repetitive behaviors (RRBs). This review also aims to summarize how FA is currently addressed in treatment within this population. Using PRISMA guidelines, peer-reviewed articles were included if (a) participants included caregivers of autistic youth, (b) there was a clearly delineated autism participant group, and (c) at least one quantitative outcome measure of FA was included. Seventeen articles were included in the review. Several themes emerged including (1) high rates of FA in autistic youth across OCD, anxiety, and RRBs, (2) some form of parental involvement in treatment, and (3) decreased rates of FA post-treatment. Overall, family accommodation appears to be present to at least the same degree, if not more so, in families of anxious autistic children and adolescents as their non-autistic but anxious counterparts. Family accommodation also often appears to be an important consideration with treatments for anxiety and OCD in autistic youth.
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6. Chander A, Sharma J, Mahajan S, Dhankhar S, Chauhan S, Saini M, Mehta S. Serotonergic Dynamics in Autism Spectrum Disorder: Unraveling the Intricate Connection. CNS Neurol Disord Drug Targets. 2025.
Autism Spectrum Disorder (ASD) constitutes a group of neurodevelopmental disorders characterized by impairments in verbal and nonverbal communication skills, social interactions, and stereotypes of behavior, with an estimated frequency of 1.2% of children throughout the world. The lack of specific treatments or molecular biomarkers underscores the complexities of ASD as a nonunified clinical entity. Comorbid medical conditions are particularly associated with gastrointestinal issues that may suggest potential interactions between the brain and gut. This review suggests that serotonin plays a significant role in the enteric and central nervous systems in relation to ASD. The modulatory role of serotonin in the enteric nervous system is examined in relation to the pathophysiology of ASD in order to shed light on prospective biomarkers and therapeutic targets that could increase the precision of diagnosis and treatment.
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7. Chen S, Shcherbina A, Schafer ST, Mattingly ZA, Ramesh J, Narayanan C, Banerjee S, Heath B, Regester M, Chen I, Thakurela S, Hallmayer J, O’Hara R, Solomon M, Nordahl CW, Amaral DG, Chetty S. Cellular mechanisms of early brain overgrowth in autistic children: elevated levels of GPX4 and resistance to ferroptosis. bioRxiv. 2025.
Autistic individuals with disproportionate megalencephaly (ASD-DM), characterized by enlarged brains relative to body height, have higher rates of intellectual disability and face more severe cognitive challenges than autistic children with average brain sizes. The cellular and molecular mechanisms underlying this neurophenotype remain poorly understood. To investigate these mechanisms, we generated human induced pluripotent stem cells from non-autistic typically developing children and autistic children with and without disproportionate megalencephaly. We assessed these children longitudinally from ages two to twelve years using magnetic resonance imaging and comprehensive cognitive and medical evaluations. We show that neural progenitor cells (NPCs) derived from ASD-DM children exhibit increased rates of cell survival and suppressed cell death, accompanied by heightened oxidative stress and ferrous iron accumulation. Despite these stressors, ASD-DM NPCs actively suppress apoptosis and ferroptosis by regulating proteins such as caspase-3 (CASP3), poly(ADP-ribose) polymerase 1 (PARP1), and glutathione peroxidase 4 (GPX4). Cellular ferroptotic signatures are further supported by elevated expression of selenocysteine genes, including GPX4 , in the blood of ASD-DM children and their mothers, suggesting potential hereditary or environmental influences. Furthermore, we show that peripheral expression of GPX4 and other selenocysteine genes correlate with cognitive outcomes (IQ). These findings underscore the role of ferroptosis in autism, pointing to potential diagnostic biomarkers and targets for intervention.
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8. da Motta TP, da Mota DG, Bitencourt FV, Jardim PF, Abreu LG, Zina LG, de Abreu M, Vargas-Ferreira F. Dental Caries of Individuals with Autism Spectrum Disorder (ASD): A Systematic Review and Meta-Analysis. J Autism Dev Disord. 2025.
This systematic review and meta-analysis aimed to assess and compare the prevalence of dental caries in children and adolescents with and without ASD and identify associated factors. Following the PRISMA guidelines, a comprehensive literature search was conducted across multiple databases, yielding 2,103 studies, from which 25 met inclusion criteria. The primary outcome measure was caries prevalence, analyzed through clinical assessments. Risk of bias was evaluated using an adapted Newcastle-Ottawa Scale. Statistical analysis was performed with Review Manager, using random-effects models to account for heterogeneity, which was assessed with I(2). Meta-analyses revealed no significant differences between groups for most caries indicators, such as DMFT and dmft indices. However, the mean Caries Per Surface (DMFS) index was significantly higher in ASD patients, suggesting greater caries severity. Our study found a significant difference in dental caries severity between children and adolescents with Autism Spectrum Disorder (ASD) and those without ASD, through the DMFS index.
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9. Feng S, Yuan Y, Wang M, Zhang J, Ding L, Zhang P, Bai X. State-dependent neural signatures of autistic traits: evidence from fNIRS-based fractional amplitude of low-frequency fluctuation analysis during natural social interaction. Neuroreport. 2025.
Autistic traits exist on a continuum within the general population, yet how these traits influence regional neural activity during real-world social interactions remains unclear. Using functional near-infrared spectroscopy (fNIRS), we investigated how autistic traits relate to the fractional amplitude of low-frequency fluctuations (fALFF) during both resting-state and real-time conversations in 62 high autistic trait and 58 low autistic trait neurotypical adults. While resting-state differences were minimal, significant group differences emerged during conversation. Specifically, individuals with high autistic traits showed lower ΔfALFF in the right superior temporal gyrus, with the largest differences observed during emotionally positive topics. Interestingly, although fALFF strongly correlated with functional connectivity across both states, only ΔfALFF demonstrated sensitivity to autistic traits. These findings reveal state-dependent neural differences linked to autistic traits, emphasizing the importance of studying brain activity during naturalistic social interactions. Our results provide new insights into how autistic traits modulate neural processing during dynamic social contexts and suggest fALFF change as a sensitive marker for studying social processing differences.
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10. Hedlund Å, Jordal M. What about neurodiversity among nurses? A cross-sectional exploration of work environment and health among nurses with ADHD and/or autism. Work. 2024: 10519815241289852.
BACKGROUND: Employees who have ADHD and/or autism frequently encounter difficulties in their workplace and with their health. Nevertheless, there is a dearth of research focusing on nurses who have ADHD and/or autism, even though the nursing profession presents various significant organizational and social challenges that may potentially have an impact on nurses with ADHD and/or autism. OBJECTIVE: The aim of the present study was to describe and examine associations between work environment, perceived health and satisfaction with given care among nurses who have ADHD and/or autism. METHODS: Recruitment of participants took place through Swedish social media groups, and data collection was carried out via a web-based questionnaire. A total of 99 nurses who self-reported a diagnosis of ADHD and/or autism were included in the study. Descriptive statistics, binary correlations and linear regression analyses were conducted to analyze the data. RESULTS: The nurses reported high quantitative demands at work, low sense of social community and managerial social support, low perceived health and high satisfaction with given care. Regarding associations between variables, nurses with more inattention (ADHD trait) reported higher quantitative demands at work, and nurses with more social anxiety (autistic trait) reported lower perceived health. CONCLUSIONS: Among nurses with ADHD and/or autism, the organizational and social work environment and health are challenging, and these challenges seem to be partly connected to the ADHD and autistic traits. However, patient care was perceived to work well. More research is needed to evaluate how the perceived health of nurses with ADHD/autism can be improved.
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11. Jin T, Yang R, Cheng Y, Cao Z, He Z, Guo S. Causality between Autism Spectrum Disorder and Telomere Length. Brain Behav. 2025; 15(2): e70362.
BACKGROUND: The association between telomere length (TL) and autism spectrum disorder (ASD) has received much attention. However, previous observational studies have yielded inconclusive evidence regarding this relationship. Our study aims to elucidate the causal relationship between TL and ASD using bidirectional Mendelian randomization (MR). METHODS: We employed the largest genome-wide association studies (GWAS) summary statistics for TL (sample size = 472,174) and ASD (sample size = 46,351). The primary MR analysis method was the inverse-variance weighted (IVW) method, complemented by the MR-Egger method, weighted median (WM) method, and MR-PRESSO. Additionally, sensitivity analyses including Cochran’s Q test, the intercept of MR-Egger regression, the global test of MR-PRESSO, and the leave-one-out analysis were conducted in our study. RESULTS: The primary MR analysis indicated a significant association between ASD and shorter TL (IVW: OR = 0.98, 95% CI: 0.96-0.99, p = 0.03). However, no significant association was found in the reverse direction MR analysis (IVW: OR = 1.06, 95% CI: 0.94-1.23, p = 0.35). Raw and outlier-corrected MR estimates from MR-PRESSO were consistent with the IVW results. Sensitivity analyses confirmed the robustness of these findings. CONCLUSIONS: Our study indicated that individuals with ASD have shorter TL, however, shorter TL does not appear to increase the risk of ASD.
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12. LaSalle JM. DNA methylation biomarkers of intellectual/developmental disability across the lifespan. J Neurodev Disord. 2025; 17(1): 10.
Epigenetic mechanisms, including DNA methylation, act at the interface of genes and environment by allowing a static genome to respond and adapt to a dynamic environment during the lifespan of an individual. Genome-wide DNA methylation analyses on a wide range of human biospecimens are beginning to identify epigenetic biomarkers that can predict risk of intellectual/developmental disabilities (IDD). DNA methylation-based epigenetic signatures are becoming clinically useful in categorizing benign from pathogenic genetic variants following exome sequencing. While DNA methylation marks differ by tissue source, recent studies have shown that accessible perinatal tissues, such as placenta, cord blood, newborn blood spots, and cell free DNA may serve as accessible surrogate tissues for testing epigenetic biomarkers relevant to understanding genetic, environmental, and gene by environment interactions on the developing brain. These DNA methylation signatures may also provide important information about the biological pathways that become dysregulated prior to disease progression that could be used to develop early pharmacological interventions. Future applications could involve preventative screenings using DNA methylation biomarkers during pregnancy or the newborn period for IDDs and other neurodevelopmental disorders. DNA methylation biomarkers in adolescence and adulthood are also likely to be clinically useful for tracking biological aging or co-occurring health conditions that develop across the lifespan. In conclusion, DNA methylation biomarkers are expected to become more common in clinical diagnoses of IDD, to improve understanding of complex IDD etiologies, to improve endpoints for clinical trials, and to monitor potential health concerns for individuals with IDD as they age.
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13. Li H, Han M, Tang S, Yang Y. Dynamic and static brain functional abnormalities in autism patients at different developmental stages. Neuroreport. 2025.
To date, most studies on autism spectrum disorder (ASD) have focused on specific age ranges, while the mechanisms underlying the entire developmental process of autism patients remain unclear. The aim of this study was to investigate the alterations in brain function in autistic individuals at different developmental stages by resting-state functional MRI (rs-fMRI). We obtained rs-fMRI data from 173 ASD and 178 typical development (TD) individuals in Autism Brain Imaging Data Exchange, spanning child, adolescent, and adult groups. We characterized local brain activity using the amplitude of low-frequency fluctuations (ALFFs), regional homogeneity (ReHo), dynamic ALFF (dALFF), and dynamic ReHo (dReHo) metrics. Pearson correlation analyses were conducted on relationships between Autism Diagnostic Observation Schedule scores and activity measures in abnormal brain regions. We found abnormal ALFF values in the medial and lateral orbitofrontal gyrus and right insula cortex with ASD compared with the TD group. In addition, compared with adolescents with ASD, we found that adults with ASD exhibited an increase in dReHo values in the posterior lateral frontal lobe. We also found that changes in ALFF were associated with the severity of autism. We found abnormal activity in multiple brain regions in individuals with autism and correlated it with clinical characteristics. Our results may provide some help for further exploring the age-related neurobiological mechanisms of ASD patients.
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14. Lowes LP, Reash NF, Iammarino MA, Connolly AM, Pietruszewski L, Smith MA, Peng J, Steiner CL, Tsao CY, Waldrop MA, Flanigan KM, Chagat S, Meyer AP, Mendell JR, Alfano LN. Gross motor delays in infants and young boys with Duchenne muscular dystrophy. J Neuromuscul Dis. 2024; 11(6): 1260-7.
BACKGROUND: Duchenne muscular dystrophy (DMD), an X-linked progressive neurodegenerative disorder, is being added to required universal screening programs for newborns in the United States. It is estimated that this will result in around 880 patients presenting at clinics in infancy. Very little is known about the early gross motor abilities in infants and young boys with DMD. OBJECTIVE: Describe the early gross motor skill acquisition in boys in our clinic with DMD. METHODS: Between the years 2016 and 2024, 90 boys with DMD under the age of 6 years (2 months – 5 years 10 months at their first visit) were evaluated as part of their standard of care during regularly scheduled clinic visits using the using the Bayley Scales of Infant & Toddler Development, Third Edition (Bayley-III). Forty-seven boys were seen in clinic longitudinally with two to six follow up visits for a total of 129 assessments. RESULTS: Ninety four percent of the boys with DMD seen in our clinic demonstrated delays in gross motor skills across the age span when compared with normative controls. None of the boys reached a ceiling on the Bayley-III despite being older than the intended age range of the test. CONCLUSIONS: Our clinic data showed an almost universal gross motor delay in infants and toddlers that did not diminish over time.
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15. Norris JE, De Stefano LA, McKinney WS, Schmitt LM, Miyakoshi M, Gross C, Piloto S, Heald B, Pedapati EV, Erickson CA, Sweeney JA, Ethridge LE. Auditory steady-state response deficits in Fragile X Syndrome implicate deficits in stimulus representation maintenance and GABAergic modulation. medRxiv. 2025.
BACKGROUND: Fragile X Syndrome (FXS) is a rare, neurodevelopmental disorder caused by a mutation to the Fragile X messenger ribonucleoprotein 1 ( Fmr1 ) gene and characterized by sensory processing abnormalities and sensitivities, including neural auditory oscillatory disruptions and reduced neural entrainment to chirp stimuli. The present study aims to evaluate the 40 Hz auditory steady state response (ASSR) in FXS to evaluate stimulus representation maintenance in FXS. METHODS: Adolescents and adults (N = 67; 34 FXS and 33 age, sex-matched typically developed controls (TDC)) completed a 40 Hz auditory steady state task during electroencephalography (EEG). Time-frequency analyses using Morlet wavelets were completed to evaluate intertrial phase coherence (ITC) and event-related spectral perturbation (ERSP), including characterization of the transient and sustained components of the 40 Hz ASSR. RESULTS: Both ITC ( p = .003) and ERSP ( p = .004) at 40 Hz were reduced for FXS compared to TDC. Interestingly, TDC exhibited a significantly elevated early, transient component (100 – 400 ms) which reduced in both ITC and ERSP during transition to the sustained component (650 – 3000 ms) whereas FXS were consistently reduced across the ASSR suggesting a reduced ability for FXS to mount a transient response. CONCLUSIONS: Individuals with FXS exhibit robust reductions in magnitude and temporal precision of neural entrainment to the steady state stimulus. The reduced ability to mount a transient response may represent reduced GABAergic modulation where the overall reduction in ITC and ERSP may reflect reduced excitatory/inhibitory balance between NMDA and GABAergic input.
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16. Ranjana JMB, Muthukkumar R. ADET MODEL: Real time autism detection via eye tracking model using retinal scan images. Technol Health Care. 2025: 9287329241301678.
BACKGROUND: Deficits in concentration with social stimuli are more common in children affected by autism spectrum disorder (ASD). Developing visual attention is one of the most vital elements for detecting autism. Eye tracking technology is a potential method to identify an early autism biomarker based on children’s abnormal visual patterns. OBJECTIVE: Eye tracking retinal scan path images can be generated by eyeball movement during the time of watching the screen and capture the eye projection sequences, which helps to analyze the behavior of the children. The Shi-Tomasi corner detection methodology uses open CV to identify the corners of the eye gaze movement in the images. METHODS: In the proposed ADET model, the corner detection-based vision transformer (CD-ViT) technique is utilized to diagnose autism at an early stage. Generally, the transformer model divides the input images into patches, which can be fed into the transformer encoder process. The vision transformer is fine-tuned to resolve binary classification issues once the features are extracted via remora optimization. Specifically, the vision transformer model acts as the cornerstone of the proposed work with the help of the corner detection technique. This study uses a dataset with 547 eye-tracking retinal scan path images for both autism and non-autistic children. RESULTS: Experimental results show that the suggested ADET frameworkachieves a better classification accuracy of 38.31%, 23.71%, 13.01%, 1.56%, 18.26%, and 44.56% than RM3ASD, MLP, SVM, CNN, SVM, and our proposed ADET methods. CONCLUSIONS: This screening method strongly suggests that it be used to assist medical professionals in providing efficient and accurate autism detection.
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17. Tuli S, Moody CT, Fisher KL, Aframian K, Chou JY, Laugeson EA. Brief Report: Social Responsiveness and Parenting Stress as Predictors of Social Skills Outcomes in Autistic Children Following the PEERS(®) for Preschoolers Program. J Autism Dev Disord. 2025.
PURPOSE: PEERS(®) for Preschoolers (P4P) is a parent-assisted social skills program for young autistic children, which has shown benefits for child and family functioning (Park et al. in Focus Autism Other Dev Disabil 38(2):80-89, 2023; Tripathi et al. in J Autism Dev Disord 52:2610-2626, 2022; Tripathi et al. in Autism 28(2):390-402, 2024). However, investigation into predictors of P4P program response have yet to be thoroughly explored. The current study aimed to explore the impact of parenting stress and social responsiveness on program outcomes in P4P. METHODS: Participants included 74 preschool-aged children with historical autism diagnoses and their parents who enrolled in the 16-week P4P program. Predictors of interest were assessed through the Parenting Stress Inventory, 4th Edition, Short Form (PSI-4 SF; Abidin, in Parenting stress index. Psychological Assessment Resources, 2012) and Social Responsiveness Scale, 2nd Edition (SRS-2; Constantino & Gruber, in Social responsiveness scale, second edition (SRS-2). Western Psychological Services, 2008). RESULTS: Results indicated significant improvements on all outcomes following P4P, including child social skills, problem behaviors, social engagement, social responsiveness, and parenting stress. Baseline parenting stress and child social responsiveness did not predict program completion. In regression models controlling for pre-scores on the respective outcomes, neither PSI-4 SF nor SRS-2 scores predicted post-scores. CONCLUSION: Overall, results are encouraging in its implication that the P4P can benefit autistic preschoolers and their parents with varying degrees of social responsiveness and parenting stress, respectively, upon entry.