1. Belcher HL, Morein-Zamir S, Stagg SD, Ford RM. Shining a Light on a Hidden Population: Social Functioning and Mental Health in Women Reporting Autistic Traits But Lacking Diagnosis. J Autism Dev Disord;2022 (May 20)

Female Phenotype Theory (FPT) suggests that autistic women often present with less obvious social impairments than autistic men. We examined the possibility of an exaggerated female phenotype among undiagnosed but probably autistic women. In two nationwide online surveys, we compared self-reported social functioning and mental health between diagnosed autistic women and women without diagnosis who scored ≥ 32 on the Autism Quotient. Compared to diagnosed autistic women, probably autistic women had higher empathy and general social functioning, and were more likely to have received a diagnosis of Borderline Personality Disorder. Autistic women had typically received more mental health diagnoses prior to their ASC diagnosis than autistic men. These findings shed light on the history of misdiagnosis experienced by many autistic women.

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2. Jarjoura W. Brief Report: Intersection of Sets of Symptoms Between Congenital Blindness and ASD: Proposing of Differential Criteria. J Autism Dev Disord;2022 (May 20)

To propose novel differential criteria of the DSM-5 for diagnosing transient Autistic-like behaviors in children with congenital blindness as a secondary condition. Most references indicate a significantly higher prevalence of autism in children with congenital blindness compared to sighted children. These behavioral symptoms may be transient Autism-like behaviors that should be diagnosed as a secondary condition. Differential criteria are proposed: gaining more adaptive responses to effective interventions; presenting more efficient adaptation to environmental changes; gaining improved use of language in a more typical manner; acquiring more mature interactions with family as well as with others and, proving more positive prognosis due to spontaneous maturity and life experiences. Decreasing false-positives and true-negatives in the assessment process and diagnosis of primary vs. secondary ASD and comorbid conditions. Developing novel assessment tools to distinguish between ASD and autism-like behaviors in the intersection area. Future revision of DSM publication may reconsider these proposed changes in diagnostic criteria.

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3. Kallitsounaki A, Williams DM. Autism Spectrum Disorder and Gender Dysphoria/Incongruence. A systematic Literature Review and Meta-Analysis. J Autism Dev Disord;2022 (May 20)

The suggested overlap between autism spectrum disorder (ASD) and gender dysphoria/incongruence (GD/GI) has been much disputed. This review showed a relationship between ASD traits and GD feelings in the general population and a high prevalence of GD/GI in ASD. Our meta-analyses revealed that the pooled estimate of the prevalence of ASD diagnoses in GD/GI people was 11% (p < .001) and the overall effect size of the difference in ASD traits between GD/GI and control people was significant (g = 0.67, p < .001). Heterogeneity was high in both meta-analyses. We demonstrated that the chances that there is not a link between ASD and GD/GI are negligible, yet the size of it needs further investigation.

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4. Kaneko A, Ohshima R, Noda H, Matsumaru T, Iwanaga R, Ide M. Sensory and Social Subtypes of Japanese Individuals with Autism Spectrum Disorders. J Autism Dev Disord;2022 (May 21)

Studies have proposed that individuals with autism spectrum disorder (ASD) can be divided into several subtypes depending on their sensory features. However, consideration of social communication features is also crucial for configuring ASD subtypes, because social and sensory features are tightly interrelated. In this study, we asked Japanese individuals with ASD to answer the Short Sensory Profile (SSP) and the Social Responsiveness Scale, Second Edition (SRS-2), which measure sensory and social aspects, respectively. Consequent latent profile analysis demonstrated that the participants could be divided into five subgroups: two groups exhibited opposite or inconsistent patterns between the SSP and SRS-2 scores, while the other groups exhibited consistent patterns. Our findings indicate the existence of diverse phenotypes in individuals with ASD.

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5. Kawano S, Baba M, Fukushima H, Miura D, Hashimoto H, Nakazawa T. Autism-associated ANK2 regulates embryonic neurodevelopment. Biochem Biophys Res Commun;2022 (May 21);605:45-50.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by altered social communication, restricted interests, and stereotypic behaviors. Although the molecular and cellular pathogeneses of ASD remain elusive, impaired neural stem cell differentiation and neuronal migration during cortical development are suggested to be critically involved in ASD. ANK2, which encodes for a cytoskeletal scaffolding protein involved in recruiting membrane proteins into specialized membrane domains, has been identified as a high-confidence ASD risk gene. However, the role of ANK2 in early neural development remains unclear. In this study, we analyzed the role of ANK2 in the cerebral cortex of developing mouse using in utero electroporation. We provide evidence suggesting that ANK2 regulates neural stem cell differentiation and neuronal migration in the embryonic cerebral cortex, where Ank2 is highly expressed. We also demonstrated that Ank2 knockdown alters the expression of genes involved in neural development. Taken together, these results support the view that ANK2 haploinsufficiency in patients may impair neural development, resulting in an increased risk of ASD. Our study findings provide new insights into the molecular and cellular pathogenesis of ASD, given that among high-confidence ASD genes, ANK2 is rare in that it encodes for a scaffolding protein for the membrane protein complex required for neuronal functions.

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6. Lang-Illievich K, Lang J, Szilagyi IS, Ullrich T, Wagner-Skacel J, Repiská G, Bornemann-Cimenti H. The Internet’s Interest in Autism Peaks in April: A Google Trends Analysis. J Autism Dev Disord;2022 (May 20):1-4.

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7. Lei J, Deng Y, Ma S. Downregulation of TGIF2 is possibly correlated with neuronal apoptosis and autism-like symptoms in mice. Brain Behav;2022 (May 19):e2610.

BACKGROUND: TGFB-induced factor homeobox 2 (TGIF2) has been reported to exert essential functions in brain development. This study aimed to elucidate the correlation of TGIF2 with autism, a neurodevelopmental condition which presents with severe communication problems. METHODS: An autism-related gene expression dataset GSE36315 was used to analyze aberrantly expressed genes in autistic brain tissues. Maternal mice were treated with valproate (VPA), and their offspring were selected as model mice with autism. The functions of TGIF2 in autism-like symptoms in mice were examined by behavioral tests and histological examination of their hippocampal tissues. Mouse hippocampal neurons were extracted for in vitro studies. A gene set enrichment analysis was performed to analyze the signaling pathways involved, and the upstream factors influencing TGIF2 expression were explored in the ENCODE database and validated by ChIP-qPCR assays. RESULTS: TGIF2 was poorly expressed in autistic patients in the GSE36315 dataset as well as in the temporal cortex tissues of autistic mice. Adenovirus-mediated overexpression of TGIF2 suppressed autism-like symptoms and neuronal apoptosis in autistic mice. TGIF2 activated the Wnt/β-catenin signaling pathway. TGIF2 could be regulated by monomethylation of histone H3 Lys4 (H3K4me1). The histone demethylase LSD1 was highly expressed in the tissues of autistic mice and bound to TGIF2 promoter, which was possibly responsible for TGIF2 downregulation. CONCLUSION: This research suggests that the downregulation of TGIF2, possibly regulated by LSD1/H3K4me1, is correlated with neuronal apoptosis and development of autism in mice through the inactivation of the Wnt/β-catenin pathway.

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8. Li R, Bruno JL, Lee CH, Bartholomay KL, Sundstrom J, Piccirilli A, Jordan T, Miller JG, Lightbody AA, Reiss AL. Aberrant brain network and eye gaze patterns during natural social interaction predict multi-domain social-cognitive behaviors in girls with fragile X syndrome. Mol Psychiatry;2022 (May 20)

Girls with fragile X syndrome (FXS) often manifest significant symptoms of avoidance, anxiety, and arousal, particularly in the context of social interaction. However, little is currently known about the associations among neurobiological, biobehavioral such as eye gaze pattern, and social-cognitive dysfunction in real-world settings. In this study, we sought to characterize brain network properties and eye gaze patterns in girls with FXS during natural social interaction. Participants included 42 girls with FXS and 31 age- and verbal IQ-matched girls (control). Portable functional near-infrared spectroscopy (fNIRS) and an eye gaze tracker were used to investigate brain network alterations and eye gaze patterns associated with social-cognitive dysfunction in girls with FXS during a structured face-to-face conversation. Compared to controls, girls with FXS showed significantly increased inter-regional functional connectivity and greater excitability within the prefrontal cortex (PFC), frontal eye field (FEF) and superior temporal gyrus (STG) during the conversation. Girls with FXS showed significantly less eye contact with their conversational partner and more unregulated eye gaze behavior compared to the control group. We also demonstrated that a machine learning approach based on multimodal data, including brain network properties and eye gaze patterns, was predictive of multiple domains of social-cognitive behaviors in girls with FXS. Our findings expand current knowledge of neural mechanisms and eye gaze behaviors underlying naturalistic social interaction in girls with FXS. These results could be further evaluated and developed as intermediate phenotypic endpoints for treatment trial evaluation in girls with FXS.

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9. Lin Y, Wang G, Yang Y, Jin X, Huang H, Zhang Y, Jin Z. Risk factors for ASD : Risk Factors for Autism Spectrum Disorder in Shanghai, China: A Population-based Case-control Study. J Autism Dev Disord;2022 (May 20)

Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder that brings heavy burdens to families and the society. This case-control study explored risk factors for ASD based on 74,252 children aged 3-12 years who were recruited from general education kindergartens, primary schools, and special education schools in Shanghai, China. One hundred ninety-two children were identified with ASD according to the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition. Male sex, the presence of anoxia or asphyxia at birth, artificial feeding, adverse maternal psychological status, complications during pregnancy and higher paternal education were associated with ASD even after controlling for age, residential district, family history of mental disorders, parental personality, and amount of daily TV viewing.

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10. Liu Z, Wang J, Xu Q, Wu Z, You L, Hong Q, Zhu J, Chi X. Vitamin A supplementation ameliorates prenatal valproic acid-induced autism-like behaviors in rats. Neurotoxicology;2022 (May 17);91:155-165.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive stereotyped behaviors. Prenatal exposure to the anticonvulsant drug valproic acid (VPA) is reported to induce ASD in human and ASD-like phenotypes in rodents. Unfortunately, the etiology and pathogenesis of ASD remains unclear. METHODS: Pregnant rats received an intraperitoneal injection of 600 mg/kg VPA on E12.5 to construct the ASD rat model in offspring. The different expression of long non-coding RNA (lncRNA) and mRNA profiles in the hippocampus were determined by RNA sequencing to investigate potential mechanisms of VPA-induced ASD. Gene Ontology (GO) and pathway enrichment analysis were performed to predict the function of dysregulated lncRNAs. Co-expression network and real-time polymerase chain reaction (RT-PCR) analysis were conducted to validate the potential regulatory lncRNA-mRNA network. RESULTS: VPA increased the total distance, time spent in the central zone and self-grooming (open field test) in rats. Meanwhile, VPA induced social impairment (three-chamber sociability test) and repetitive behaviors (marble burying test). A total of 238 lncRNAs and 354 mRNAs were differentially expressed in the VPA group. In addition, the dysregulated lncRNAs were involved in neural function and developmental processes of ASD. 5 lncRNAs and 7 mRNAs were differently expressed and included in the lncRNA-mRNA co-expression network. RT-PCR confirmed the upregulation of 4 lncRNAs and 6 mRNAs, and identified a potential regulatory network of NONRATT021475.2 (lncRNA) and Desert hedgehog (Dhh). Moreover, VPA decreased the serum vitamin A (VA) levels in offspring rats on postnatal day (PND) 21 and 49. Importantly, VA supplementation significantly restored VPA-induced autism-related behaviors and upregulation of NONRATT021475.2 and Dhh in the hippocampus of ASD rats. CONCLUSION: This study not only contributed to understand the importance of lncRNAs and mRNAs in the progression of ASD, but also identified VA as a potential therapy for the condition. DATA AVAILABILITY: The data that support the findings of this study are available from the corresponding author with reasonable request.

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11. López-Garrido MP, Carrascosa-Romero MC, Montero-Hernández M, Ruiz-Almansa J, Sánchez-Sánchez F. Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report. J Autism Dev Disord;2022 (May 20)

ATRX mutations are commonly associated with alpha-thalassaemia mental retardation syndrome (ATR-X syndrome) with a notable variable expressivity. This X-linked disorder is characterized by intellectual disability (ID) in a higher or lesser degree, in which the alpha-thalassaemia feature is not always present. Other phenotypic manifestations like facial dimorphism, hypotonia, microcephaly, skeletal abnormalities or urogenital malformations have been frequently observed in ATR-X syndrome. Herein, we report a missense ATRX mutation (Thr1621Met) in a patient with an autism spectrum disorder (ASD) diagnosis. Except for ID, no typical signs of ATR-X syndrome were found in the patient. These results confirm the extensive phenotypic variability associated to ATRX mutations and show the involvement of this gene in the ASD.

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12. Masi A, Moni MA, Azim SI, Choi B, Heussler H, Lin PI, Diaz AM, Eapen V. Clinical and behavioral attributes leading to sleep disorders in children on the autism spectrum. Autism Res;2022 (May 21)

Sleep disorders are a common comorbid condition in children diagnosed with autism spectrum disorder (« autism »). However, the relationship between the clinical features of autism and sleep disorders remains unclear. A better understanding of the inherent autism-related characteristics linked to comorbid sleep disorders would improve comprehensive assessment and management. This study examined the relationship between sociodemographics, autism symptoms, sleep problems, cognitive status, behavioral attributes, and sensory profiles. Using data from 1268 participants who took part in the Australian Autism Biobank, sleep-related measurements using the Child Sleep Habits Questionnaire (CSHQ) were compared between autistic children aged 2 to 17 (N = 969), their siblings (N = 188), and unrelated children without an autism diagnosis (N = 111). The known relationship between sleep problems and autism was further explored by including scores from the Autism Diagnostic Observation Schedule-2, Mullen Scales of Early Learning, Vineland Adaptive Behavioral Scale-II and the Short Sensory Profile-2; which were included in analyses for autistic participants who had a completed CSHQ. Multiple regression models were used to identify clinical/behavioral variables associated with CSHQ subscales. The autism group had a significantly higher total CSHQ score than the sibling and comparison groups (p < 0.001), indicating worse sleep quality. Within the autism group, lower adaptive behaviors (i.e., VABS-II) and sensory issues (i.e., SSP-2 subclass scores) were positively associated with the severity of sleep problems (i.e., the CSHQ subclass scores) (p < 0.001). The significant functional impact of poor sleep on autistic children warrants an assessment of sleep as a critical part of a holistic approach to supporting autistic children and their families. LAY SUMMARY: Autistic children generally have co-occurring conditions. Sleep disorders impact approximately 50%-80% of autistic children. The impact on the quality of life for both the children and their families can be significant. This study compares sleep problems in autistic children and adolescents with their siblings and children without a diagnosis of autism, and investigates the relationship between specific autistic traits, daily life behaviors and sleep problems. The findings highlight the importance of a holistic assessment for autistic children and matching appropriate sleep intervention and supports where indicated.

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13. McKinney WS, Kelly SE, Unruh KE, Shafer RL, Sweeney JA, Styner M, Mosconi MW. Cerebellar Volumes and Sensorimotor Behavior in Autism Spectrum Disorder. Front Integr Neurosci;2022;16:821109.

BACKGROUND: Sensorimotor issues are common in autism spectrum disorder (ASD), though their neural bases are not well understood. The cerebellum is vital to sensorimotor control and reduced cerebellar volumes in ASD have been documented. Our study examined the extent to which cerebellar volumes are associated with multiple sensorimotor behaviors in ASD. MATERIALS AND METHODS: Fifty-eight participants with ASD and 34 typically developing (TD) controls (8-30 years) completed a structural MRI scan and precision grip testing, oculomotor testing, or both. Force variability during precision gripping as well as absolute error and trial-to-trial error variability of visually guided saccades were examined. Volumes of cerebellar lobules, vermis, and white matter were quantified. The relationships between each cerebellar region of interest (ROI) and force variability, saccade error, and saccade error variability were examined. RESULTS: Relative to TD controls, individuals with ASD showed increased force variability. Individuals with ASD showed a reduced volume of cerebellar vermis VI-VII relative to TD controls. Relative to TD females, females with ASD showed a reduced volume of bilateral cerebellar Crus II/lobule VIIB. Increased volume of Crus I was associated with increased force variability. Increased volume of vermal lobules VI-VII was associated with reduced saccade error for TD controls but not individuals with ASD. Increased right lobule VIII and cerebellar white matter volumes as well as reduced right lobule VI and right lobule X volumes were associated with greater ASD symptom severity. Reduced volumes of right Crus II/lobule VIIB were associated with greater ASD symptom severity in only males, while reduced volumes of right Crus I were associated with more severe restricted and repetitive behaviors only in females. CONCLUSION: Our finding that increased force variability in ASD is associated with greater cerebellar Crus I volumes indicates that disruption of sensory feedback processing supported by Crus I may contribute to skeletomotor differences in ASD. Results showing that volumes of vermal lobules VI-VII are associated with saccade precision in TD but not ASD implicates atypical organization of the brain systems supporting oculomotor control in ASD. Associations between volumes of cerebellar subregions and ASD symptom severity suggest cerebellar pathological processes may contribute to multiple developmental challenges in ASD.

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14. Ou W, Zeng W, Gao W, He J, Meng Y, Fang X, Nie J. Movie Events Detecting Reveals Inter-Subject Synchrony Difference of Functional Brain Activity in Autism Spectrum Disorder. Front Comput Neurosci;2022;16:877204.

Recently, movie-watching fMRI has been recognized as a novel method to explore brain working patterns. Previous researchers correlated natural stimuli with brain responses to explore brain functional specialization by « reverse correlation » methods, which were based on within-group analysis. However, what external stimuli drove significantly different brain responses in two groups of different subjects were still unknown. To address this, sliding time windows technique combined with inter-Subject functional correlation (ISFC) was proposed to detect movie events with significant group differences between autism spectrum disorder (ASD) and typical development (TD) subjects. Then, using inter-Subject correlation (ISC) and ISFC analysis, we found that in three movie events involving character emotions, the ASD group showed significantly lower ISC in the middle temporal gyrus, temporal pole, cerebellum, caudate, precuneus, and showed decreased functional connectivity between large scale networks than that in TD. Under the movie event focusing on objects and scenes shot, the dorsal and ventral attentional networks of ASD had a strong synchronous response. Meanwhile, ASD also displayed increased functional connectivity between the frontoparietal network (FPN) and dorsal attention network (DAN), FPN, and sensorimotor network (SMN) than TD. ASD has its own unique synchronous response rather than being « unresponsive » in natural movie-watching. Our findings provide a new method and valuable insight for exploring the inconsistency of the brain « tick collectively » to same natural stimuli. This analytic approach has the potential to explore pathological mechanisms and promote training methods of ASD.

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15. Preston R, Halpin M, Clarke G, Millard S. Palin parent-child interaction therapy with children with autism spectrum disorder and stuttering. J Commun Disord;2022 (May 17);97:106217.

INTRODUCTION: It is estimated that 8% of children who stutter (CWS) have autism spectrum disorder (ASD) Briley & Ellis (2018). There is evidence that interventions for CWS and interventions for children with ASD can be effective, but there is little evidence to guide clinical decision making when working with CWS with a co-existing diagnosis of ASD. Palin Parent-Child Interaction (PCI) therapy Kelman & Nicholas (2020) is an evidence-based intervention for CWS, with the authors suggesting that the approach may be beneficial for CWS with ASD. The aim of this study was to examine outcomes for three CWS with ASD who received Palin PCI at a specialist centre for stuttering in London. METHOD: The participants were three CWS with ASD aged 4;5, 6;7 and 7;7. Assessments were administered before therapy, and then at three, six and twelve months after therapy began. Outcome measures included stuttering frequency, child’s communication attitude, parents’ perception of the impact of stuttering on the child, the severity of stuttering and its impact on the parents, and parents’ knowledge and confidence in managing stuttering. RESULTS: All three children showed improvement in three or more variables. Four out of five parents reported reduced impact of stuttering on the child and themselves following therapy, and change was maintained one year post-therapy. All five parents reported increased knowledge of stuttering and confidence in managing it after therapy, and four parents maintained these changes for a year. CONCLUSIONS: Over a one year period, these CWS with ASD who received Palin PCI showed change across multiple variables. The observed increases in parent knowledge and confidence were comparable to previously published data. These preliminary findings suggest that CWS with ASD and their parents can benefit from Palin PCI therapy and that further experimental evaluation of this approach with this client group is indicated.

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16. Rhodus EK, Barber J, Kryscio RJ, Abner EL, Bahrani AA, Lewis KES, Carey B, Nelson PT, Van Eldik LJ, Jicha GA. Frontotemporal neurofibrillary tangles and cerebrovascular lesions are associated with autism spectrum behaviors in late-life dementia. J Neurol;2022 (May 21)

BACKGROUND AND OBJECTIVES: The pathologic substrates or neuroanatomic regions responsible for similarities in behavioral features seen in autism spectrum disorder and late-life dementia remain unknown. The present study examined the neuropathologic features of late-life dementia in research volunteers with and without antemortem behaviors characteristic of autism spectrum disorders. METHODS: Antemortem cross-sectional assessment of autistic spectrum behaviors proximal to death in persons with diagnosis of mild cognitive impairment or dementia was completed using the Gilliam Autism Rating Scale, 2nd edition (GARS-2), followed by postmortem quantitative and semiquantitative neuropathologic assessment. All individuals who completed the GARS-2 prior to autopsy were included (n = 56) and we note that no participants had known diagnosis of autism spectrum disorder. The GARS-2 was used as an antemortem screening tool to stratify participants into two groups: « Autism Possible/Very Likely » or « Autism Unlikely. » Data were analyzed using nonparametric statistics comparing location and scale to evaluate between-group differences in pathologic features. RESULTS: Neurofibrillary tangles (NFT; p = 0.028) density and tau burden (p = 0.032) in the frontal region, the NFT density (p = 0.048) and neuritic plaque burden (p = 0.042), and the tau burden (p = 0.032) of the temporal region, were significantly different in scale between groups. For measures with significant group differences, the medians of the Autism Possible/Very Likely group were roughly equal to the 75th percentile of the Autism Unlikely group (i.e., the distributions were shifted to the right). DISCUSSION: This study links behaviors characteristic of autism to increased pathologic tau burden in the frontal and temporal lobes in persons with late-life dementia. Additional studies are needed to determine causal factors and treatment options for behaviors characteristic of autism behaviors in late-life dementias.

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17. Riddiford JA, Enticott PG, Lavale A, Gurvich C. Gaze and social functioning associations in autism spectrum disorder: A systematic review and meta-analysis. Autism Res;2022 (May 20)

Autism spectrum disorder (ASD) is characterized by significant social functioning impairments, including (but not limited to) emotion recognition, mentalizing, and joint attention. Despite extensive investigation into the correlates of social functioning in ASD, only recently has there been focus on the role of low-level sensory input, particularly visual processing. Extensive gaze deficits have been described in ASD, from basic saccadic function through to social attention and the processing of complex biological motion. Given that social functioning often relies on accurately processing visual information, inefficient visual processing may contribute to the emergence and sustainment of social functioning difficulties in ASD. To explore the association between measures of gaze and social functioning in ASD, a systematic review and meta-analysis was conducted. A total of 95 studies were identified from a search of CINAHL Plus, Embase, OVID Medline, and psycINFO databases in July 2021. Findings support associations between increased gaze to the face/head and eye regions with improved social functioning and reduced autism symptom severity. However, gaze allocation to the mouth appears dependent on social and emotional content of scenes and the cognitive profile of participants. This review supports the investigation of gaze variables as potential biomarkers of ASD, although future longitudinal studies are required to investigate the developmental progression of this relationship and to explore the influence of heterogeneity in ASD clinical characteristics. LAY SUMMARY: This review explored how eye gaze (e.g., where a person looks when watching a movie) is associated with social functioning in autism spectrum disorder (ASD). We found evidence that better social functioning in ASD was associated with increased eye gaze toward faces/head and eye regions. Individual characteristics (e.g., intelligence) and the complexity of the social scene also influenced eye gaze. Future research including large longitudinal studies and studies investigating the influence of differing presentations of ASD are recommended.

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18. Rollins PR, De Froy AM. Reexamining Pathways Early Autism Intervention in Children Before and After the Third Birthday: A Randomized Control Trial. J Autism Dev Disord;2022 (May 21):1-13.

We reexamined the efficacy of Pathways early autism intervention using generalized measures of social communication and language skills administered by an unfamiliar adult in a novel environment. Generalized measures improve on sources of measurement bias. Sixty-seven autistic children blocked on age (under versus over 3 years) were randomly assigned to 15 weeks of Pathways or services-as-usual. Age moderated the effects of Pathways for social communication. Specifically, Pathways had a significantly large effect for children under 3 and a small effect that approached significance for children over 3. Pathways also had a small effect on expressive speech/language skills. Results replicate previous findings of the efficacy of Pathways on proximal and distal skills and support the importance of early intervention.

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19. Shehi E, Shah H, Singh A, Pampana VS, Kaur G. The Linkage Between Autism Spectrum Disorder and Dup15q Syndrome: A Case Report. Cureus;2022 (Apr);14(4):e24205.

Patients diagnosed with autism spectrum disorder (ASD) frequently have a variable presentation and can suffer from underlying conditions, such as Chromosome 15 abnormalities(]) The broad diagnosis of ASD and its debilitating symptoms can overshadow underlying conditions and delay crucial interventions. This report describes a male child who was diagnosed with ASD at the early age of 19 months. Hallmark symptoms seen in this case included lack of social eye contact, lack of joint attention, hand-flapping, and missed motor milestones. Genetic methylation assay revealed a duplication on maternally derived chromosome 15, indicating concurrent 15q11-q13 duplication syndrome (Dup15q). Screening assessments for ASD are an important step in the initial management of developmental abnormalities. However, early genetic screening can lead to a more accurate diagnosis, personalized treatment, and better quality of life in patients with atypical symptoms caused by undiagnosed comorbid conditions.

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