1. Pro-social hormones for autism?. Archives of disease in childhood. 2021; 106(12): 1170.

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2. Chen S, Xiong J, Chen B, Zhang C, Deng X, He F, Yang L, Chen C, Peng J, Yin F. Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort. Clinica chimica acta; international journal of clinical chemistry. 2022; 524: 179-86.

BACKGROUND: Autism spectrum disorder (ASD), a neurodevelopmental disorder, is featured by impaired social communication and restricted and repetitive behaviors and interests. ASD and comorbid neurodevelopmental disorders (ASD-NDDs), especially epilepsy and intellectual disability (ID)/global developmental delay (GDD) are frequently presented in genetic disorders. The aim of this study was to explore the clinical and genetic profile of ASD in combination with epilepsy or ID/GDD. METHODS: We retrospectively analyzed the clinical characteristics, and genetic spectrum of pediatric patients presenting ASD-NDDs with proven genetic etiology. The pathogenicity of variants was conducted by molecular geneticists and clinicians complied with the guidelines of the American College of Medical Genetics and Genomics (ACMG). RESULTS: Among 154 patients with ASD-NDDs, 79 (51.3%) patients gained a genetic diagnosis. Most patients (78/79, 98.7%) had comorbid ID or GDD, and 49 (49/79, 62.0%) had comorbid epilepsy. The clinical characteristics of those 79 patients were varied. 87 genetic variants were found among the 79 pedigrees. Most of the involved genes have roles in gene expression regulation (GER) and neuronal communication (NC). Most genes have been proven to be ASD-related genes, and some of them were not reported to contribute to ASD previously. CONCLUSION: We summarized the genetic and clinical profile of 79 ASD-NDDs patients with proven genetic etiology. The genetic spectrum of ASD was expanded, and we highlighted a novel possible ASD candidate gene PRTG.

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3. Chua YW, Lu SC, Anzulewicz A, Sobota K, Tachtatzis C, Andonovic I, Rowe P, Delafield-Butt J. Developmental differences in the prospective organisation of goal-directed movement between children with autism and typically developing children: A smart tablet serious game study. Developmental science. 2022; 25(3): e13195.

Movement is prospective. It structures self-generated engagement with objects and social partners and is fundamental to children’s learning and development. In autistic children, previous reports of differences in movement kinematics compared to neurotypical peers suggest that its prospective organisation might be disrupted. Here, we employed a smart tablet serious game paradigm to assess differences in the feedforward and feedback mechanisms of prospective action organisation, between autistic and neurotypical preschool children. We analysed 3926 goal-directed finger movements made during smart-tablet ecological gameplay, from 28 children with Childhood Autism (ICD-10; ASD) and 43 neurotypical children (TD), aged 3-6 years old. Using linear and generalised linear mixed-effect models, we found the ASD group executed movements with longer movement time (MT) and time to peak velocity (TTPV), lower peak velocity (PV), with PV less likely to occur in the first movement unit (MU) and with a greater number of movement units after peak velocity (MU-APV). Interestingly, compared to the TD group, the ASD group showed smaller increases in PV, TTPV and MT with an increase in age (ASD × age interaction), together with a smaller reduction in MU-APV and an increase in MU-APV at shorter target distances (ASD × Dist interaction). Our results are the first to highlight different developmental trends in anticipatory feedforward and compensatory feedback mechanisms of control, contributing to differences in movement kinematics observed between autistic and neurotypical children. These findings point to differences in integration of prospective perceptuomotor information, with implications for embodied cognition and learning from self-generated action in autism.

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4. Coussens M, Maes J, Desoete A, Vanderstraeten G, Van Waelvelde H, Van de Velde D. Participation According to Clinicians Working with Young Children with Developmental Disabilities: A Long Way to Go. Journal of autism and developmental disorders. 2021.

Participation has become an important measure of outcome in child rehabilitation as young children with developmental disabilities are increasingly at risk of decreased participation. Therefore, this study garnered information on clinicians’ perspectives regarding perceived facilitators and barriers when rendering participation-based interventions using a qualitative research design. Semi-structured interviews of clinicians (Ns = 12, 25-57 years) were conducted and evaluated via an inductive thematic analysis. Results denote that current mechanisms of providing participation-based interventions resembled traditionally focused interventions; thus, resulting in a knowledge-to-practice gap. Clinicians desired more opportunities to communicate with caregivers and to be able to influence the children’ s natural environments. They also identified shortness of time, resources, and rigid health care regulations as barriers hampering the efficacy of participation-based services.

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5. Davis PH, Elsayed H, Crais ER, Watson LR, Grzadzinski R. Caregiver responsiveness as a mechanism to improve social communication in toddlers: Secondary analysis of a randomized controlled trial. Autism research : official journal of the International Society for Autism Research. 2022; 15(2): 366-78.

Early intensive behavioral interventions (EIBI) for children at elevated likelihood for a later diagnosis of autism spectrum disorder (EL-ASD), are often delivered through parent-mediated models. An area of current exploration is whether changes in caregiver behaviors are a mechanism through which to improve and track child behaviors in these interventions. Toddlers and their caregivers participated in an intervention trial (randomized controlled trial) and were randomized to either a parent-mediated intervention (adapted responsive teaching; ART) or a control condition (referral to early intervention and monitoring; REIM). Changes in toddler social communication (SC) behaviors and characteristics of caregiver responsiveness (CR) were quantified over 8 months. Analyses were conducted to assess whether changes in CR mediated the relation between group (ART vs. REIM) and changes in child SC. Results of the current study indicated that caregivers who participated in a parent-mediated intervention improved in three domains of CR (contingent verbal sensitivity, responsivity, affect). CR was also found to be a mechanism through which children’s SC skills improved. This work provides evidence that qualities of CR serve as mechanisms through which to improve and monitor child behaviors over the course of EIBIs. These results may lead to novel intervention targets, methods for tracking change, and tailored treatment planning for toddlers with EL-ASD. The data used in this study comes from a clinical trial that was prospectively registered with the Registry of Efficacy and Effectiveness Studies (Registry ID: 316.1v1). LAY SUMMARY: Interventions for toddlers with high likelihood for a later diagnosis of autism often include the caregiver as an active participant in the intervention. In this study, we aimed to understand qualities of caregiver responsiveness (CR) that facilitate improvements in child behaviors during intervention. Results show that increasing verbal CR and affect are ways to improve child social skills over the course of intervention.

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6. Ho LP, Lee YC. Prevalence of developmental delay among children: A national study based on administrative database of the single-payer National Health Insurance System in Taiwan. Child: care, health and development. 2022; 48(2): 324-35.

BACKGROUND: Developmental delay (DD) indicates a failure to meet the developmental milestones of most children of the same age. Studies based solely on the ICD coding manual may underestimate the prevalence of DD. Real-world use of rehabilitation data may be useful in the identification of more DD children previously undiagnosed with DD. AIM: The aim of this study is to estimate the prevalence of DD among children aged 0-6 by age and sex in Taiwan based on modified ICD codes. METHODS: A list of ICD codes specific to DD (including delays and disabilities requiring early intervention) was generated from the existing ICD codebook and modified based on National Health Insurance (NHI) claims data pertaining to developmental rehabilitation of children aged 0-6. The validity of the codes was subsequently assessed by DD experts in various fields using the consensus development technique. The resulting list was used to estimate the prevalence of DD among children in Taiwan from 2000 to 2015 based on analysis of longitudinal NHI data. RESULT: Between 2000 and 2015, the prevalence of DD among children aged 0 to 6 years increased from 2.0% to 5.7%, and the sex ratio was 181-197 males per 100 females. The prevalence estimate obtained in this study (5.6%) was 229% higher than existing government statistics (1.6%) published in 2014. CONCLUSIONS: The codes developed using claims data in this study can be used to estimate the prevalence of DD among children and evaluate the effectiveness of intervention programmes. Consistent increases in the prevalence of DD indicate that efforts to promote early intervention have been effective. Nonetheless, the low prevalence rate among 0-2 years children with developmental delay and low prevalence rate of female CWDD means that the policy should notice the lack of access to healthcare services for infants and female children and produce a more equitable or fair distribution of healthcare resources.

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7. Laghi F, Ferri R, Caramuscio E, Lonigro A, Rea M, Pezzuti L. The Floor Effect on the ABAS-II in Adolescents with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2021.

The present study aimed at enhancing the assessment of adaptive behavior in adolescents with Autism Spectrum Disorder trough the Adaptive Behavior Assessment System-Second Edition. To overcome the limits underpinning floor effect, which are commonly observed with the traditional methods, the statistical Hessl method and its revision by Orsini, Pezzuti and Hulbert was adopted. The results showed a more variation using the former method compared to the latter: a greater impairment in Social versus Leisure skills emerged. Regarding the Conceptual domain, a greater deficit in Functional Academics was observed. In the Practical domain, we found a greater impairment in Self-Care skills. Conversely, Home Living skills appeared as a strength compared to other skills. The results are discussed in reference to literature.

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8. Lemos C, Kranios A, Beauchamp-Whitworth R, Chandwani A, Gilbert N, Holmes A, Pender A, Whitehouse C, Botting N. Awareness of developmental language disorder amongst workplace managers. Journal of communication disorders. 2022; 95: 106165.

BACKGROUND: Developmental Language Disorder (DLD) is one of the most prevalent developmental disorders and affects expressive and receptive language with no clear cause (Bishop et al., 2017). Awareness of DLD is currently much lower than other (sometimes less prevalent) disorders such as Autism or Attention Deficit Hyperactivity Disorder (ADHD) (Bishop, 2010). Despite this, it has now been established that the implications of DLD reach well into adulthood (Botting, 2020; Botting et al., 2016; Clegg et al., 2005; Johnson et al., 2010). Thus, DLD may affect not only school progress but also employment. Whilst recent research indicates that the rate of employment in this group was similar to peers (Conti-Ramsden et al., 2018), it also reported lower levels of employment in terms of hours, contracts and employment type. However, there is virtually no research examining why this might be the case. In contrast there is already a growing evidence base surrounding Autism Spectrum Disorder (ASD) and Dyslexia in the workplace. Systematic reviews of factors affecting employment in ASD and Dyslexia (de Beer et al., 2014; Scott et al., 2019) have revealed barriers including the job application process itself. AIMS & METHODS: In this study we aimed to explore managers’ awareness of DLD and their views on training, adjustments and feasibility when considering employing an individual with DLD. Specifically, we asked: 1) What awareness do managers have of DLD and how does this compare to awareness of ASD and other developmental disorders? 2) What is the extent of training on DLD and other developmental disorders in the workplace? 3) What barriers to employment are perceived to be most significant by managers? 4) What strategies do managers report as currently in place to help support people with DLD? 5) What are perceived strengths of people with DLD according to managers? RESULTS: In total, 77 managers completed an anonymous online survey which was accessed via a social media link. Managers came from a wide variety of backgrounds with an equal split between public and private organisations, and across gender. The number of managers who had heard of DLD was lower than for the other disorders (ADHD, ASD, Dyslexia). This pattern was partly mirrored in the proportion of managers who felt they had received adequate training on communication difficulties. However, training on developmental disorders generally was reported as very scarce. A qualitative examination of barriers identified by managers included interviewing and CV submission, reading and following instructions, lack of clear guidelines around support needed, and financial restrictions in providing support. CONCLUSIONS: These findings support existing literature and have implications for policy and practice – namely that young people with DLD may need to be proactive about disclosing their language needs, and that workplaces need increased basic training in DLD.

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9. Toolan C, Holbrook A, Schlink A, Shire S, Brady N, Kasari C. Using the Clinical Global Impression scale to assess social communication change in minimally verbal children with autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2022; 15(2): 284-95.

Assessing improvements in social communication behaviors in minimally verbal children with autism spectrum disorder (ASD) is often challenging. The Clinical Global Impression Scale (CGI) is a 7-point scale that has been adapted so that clinicians can easily and quickly rate social communication behaviors. The current study evaluated the CGI-Improvement (CGI-I) subscale as a measure of social communication change in minimally verbal children with ASD. The sample included 54 minimally verbal school-age children with ASD enrolled in a social communication intervention trial. CGIs were rated by interventionists and the study coordinator at baseline and at Week 6 of intervention, and were compared to scores on the Communication Complexity Scale (CCS). Results indicated that CGI ratings corresponded with CCS scores at baseline and Week 6. Children who were rated as more severe on social communication at baseline demonstrated lower complexity of communication compared to those who were rated as less severe. Those who demonstrated fast response to intervention at Week 6 showed greater improvement in their joint attention than those who were slower responders. These results provide support for the utility and validity of the CGI-I as a measure of social communication change in minimally verbal children. This study tested the CGI, a clinician rating scale, with a group of children with ASD with limited language who received intervention to improve social interactions and communication. Children’s CGI ratings were comparable to other assessments in measuring social communication. The CGI may be a useful tool for those interested in quickly and easily tracking changes in children’s social communication over the course of treatment. LAY SUMMARY: This study tested the Clinical Global Impression (CGI), a clinician rating scale, with a group of children with ASD with limited language who received intervention to improve social interactions and communication. Children’s CGI ratings were comparable to other assessments in measuring social communication. The CGI may be a useful tool for those interested in quickly and easily tracking changes in children’s social communication over the course of treatment.

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10. Triantafyllopoulou P, Clark-Hughes C, Langdon PE. Social Media and Cyber-Bullying in Autistic Adults. Journal of autism and developmental disorders. 2021: 1-9.

Social media can lead to rejection, cyber-bullying victimisation, and cyber-aggression, and these experiences are not fully understood as experienced by autistic adults. To investigate this, 78 autistic adults completed self-report measures of social media use, cyber-bullying victimisation, cyber-aggression, and self-esteem. High levels of social media use were found to be associated with an increased risk of cyber-victimisation; whereas self-esteem was positively correlated with feelings of belonging to an online community and negatively correlated with feelings of being ignored on social network sites and chat rooms. Future studies are needed to further investigate the experience of cyber-bullying victimisation of autistic adults.

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11. Wang L, Zheng R, Xu Y, Zhou Z, Guan P, Wu Y, Zhou J, Cheng Z, Zhang L. Altered Metabolic Characteristics in Plasma of Young Boys with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2021.

Autism Spectrum Disorder (ASD) is a serious neurodevelopmental disorder with no clinical biomarker. This study used untargeted metabolomic analysis to identify metabolic characteristics in plasma that can distinguish ASD children. 29 boys with ASD (3.02 ± 0.67 years) and 30 typically developing (TD) boys (3.13 ± 0.46 years) were recruited. Developmental and behavioral assessments were conducted in ASD group. Samples of plasma were analyzed using liquid chromatography-tandem mass spectrometry (LC-MS/MS). The association between metabolite concentration and scale score was assessed by Spearman rank correlation. Altered metabolic characteristics were found in boys with ASD. In Receiver Operating Characteristic (ROC) analysis, ornithine had the highest AUC (Area under ROC) value. Furthermore, the concentration of choline and ornithine was negatively correlated with ABC-language score in ASD group.

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12. Xu SY, Liang JL, Li HJ, Zhao RJ, Li CX. Type II Alexander disease with fragile X mental retardation 1 gene mutation. Clinical neurology and neurosurgery. 2021; 211: 107023.

Alexander disease (AxD) is a rare, autosomal dominant genetic disorder with an incidence of approximately 1 in 27,00.000. It is caused by a missense mutation in the GFAP gene encoding the glial fibrillary acidic protein. Fragile X-associated tremor/ataxia syndrome (FXTAS) is an X-linked dominant genetic disease, usually caused by a pre-mutation: an unmethylated expansion in the range of 50-200 CGG repeats in the fragile X mental retardation 1 (FMR1) gene. The clinical manifestations of these two diseases are complex and have some similarities. Both type II AxD and FXTAS may have ataxia as the first symptom. Here, we describe a case of type II AxD with ataxia as the first symptom accompanying a hemizygous mutation in the FMR1 gene (NM_001185081, exon13, c 0.1256C>T, p.T419M, g 0.147026507C>T). A sporadic genetic mutation led us to misdiagnose the patient with FXTAS initially. Whole-genome sequencing confirmed a heterozygous mutation in the GFAP gene (NM_002055.5, exon4, c 0.1158C>A, p.N386K, g 0.6310C>A). This report indicates that when the patient’s clinical manifestation is ataxia, and imaging results suggest that the midbrain, medulla oblongata, and other subcerebellar structures are atrophied, AxD should be considered. Whole-genome sequencing is thus feasible to avoid missed diagnoses and misdiagnoses.

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13. Zemantic PK, Kurtz-Nelson EC, Barton H, Safer-Lichtenstein J, McIntyre LL. Family Empowerment: Predicting Service Utilization for Children with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2021.

Families of children with autism spectrum disorder (ASD) often utilize a variety of services. Relatively few studies have examined the relationship between family empowerment and service utilization for this population. The present study investigated the relationship between family empowerment and service utilization in families of children with ASD from the Pacific Northwest. Family empowerment did not predict the use of behavioral services or established related services. However, higher family empowerment was reported for families who reported use of complementary and alternative medicine. Implications for future research and clinical practice are discussed.

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