1. Ban Y, Sun J, Liu J. Social Support and Subjective Well-Being in Chinese Parents of Children With Autism Spectrum Disorder: The Mediating Role of Perceived Discrimination. Frontiers in psychology. 2021; 12: 781794.

The present research was done to examine whether social support was related to subjective well-being on Chinese parents of children with autism spectrum disorder (ASD) and how perceived discrimination affected this relationship. Two hundred four parents with ASD children were investigated by Inventory of Social Support Behavior, Perceived Discrimination Scale for Parents of Children With ASD, Subjective Well-being Scale. The results showed that perceived discrimination was negatively associated with social support and subjective well-being, and social support was positively related to subjective well-being. Furthermore, perceived discrimination played a partial mediating role between social support and subjective well-being. All the findings suggest that social support can directly influence subjective well-being of parents of ASD children and indirectly influence subjective well-being through perceived discrimination.

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2. Bush L, Martin GE, Landau E, Losh M. A Longitudinal Study of Parent-Child Interactions and Language Outcomes in Fragile X Syndrome and Other Neurodevelopmental Disorders. Frontiers in psychiatry. 2021; 12: 718572.

Difficulties with pragmatic language (i.e., language in social contexts, such as conversational ability) are a noted characteristic of the language profiles of both fragile X syndrome (FXS) and autism spectrum disorder (ASD), conditions which show significant phenotypic overlap. Understanding the origins and developmental course of pragmatic language problems in FXS and other developmental conditions associated with language impairment is a critical step for the development of targeted interventions to promote communicative competence across the lifespan. This study examined pragmatic language in the context of parent-child interactions in school-age children with FXS (who did and did not meet ASD criteria on the ADOS; n = 85), idiopathic ASD (n = 32), Down syndrome (DS; n = 38), and typical development (TD; n = 39), and their parents. Parent-child communicative interactions were examined across multiple contexts, across groups, and in relationship to pragmatic language outcomes assessed 2 years later. Results showed both overlapping and divergent patterns across the FXS-ASD and idiopathic ASD child and parent groups, and also highlighted key differences in pragmatic profiles based on situational context, with more pragmatic language difficulties occurring for both ASD groups in less structured interactions. Differences in parental language styles during parent-child interactions were associated with child language outcomes, likely reflecting the complex interplay of discourse style inherent to a parent, with the inevitable influence of child characteristics on parent language as well. Together, findings help delineate the dynamic and multifactorial nature of impaired pragmatic skills among children with FXS and other neurodevelopmental disorders associated with language impairment, with potential implications for the development of targeted interventions for pragmatic communication skills.

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3. Cavalli G, Galeoto G, Sogos C, Berardi A, Tofani M. The efficacy of executive function interventions in children with autism spectrum disorder: a systematic review and meta-analysis. Expert review of neurotherapeutics. 2022; 22(1): 77-84.

INTRODUCTION: Children with Autism Spectrum Disorder (ASD) experience difficulties in Executive Functions (EFs) performance. However, the efficacy of EF intervention needs to be further investigated. OBJECTIVE: To evaluate the efficacy of different EF interventions in children and adolescents with ASD. METHODS: A systematic review and meta-analysis were carried out according to PRISMA guidelines. Relevant databases including PubMed, PsycINFO, Scopus, and Web of Science were searched up to November 2019. Papers included in the study have the following characteristics: randomized controlled trial or quasi-experimental design and published in English or Spanish. RESULTS: After the elimination of duplicates, 949 were screened. Among these, six were included in the systematic review. The main approaches for EF in ASD were computer-based interventions, cognitive-behavioral therapy, and assisted-animal therapy. Statistically significant results (p = 0.003) were found in using exergames. CONCLUSION: Different approaches can be used for improving EF intervention, with positive effects on working memory, behavior, and flexibility.

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4. Frolli A, Ricci MC, Di Carmine F, Orefice A, Saviano E, Carotenuto M. Emotional Rational Education Training Associated with Mindfulness for Managing Anxiety within Adolescents Affected by High-Functioning Autism: A Descriptive Study. Behavioral sciences (Basel, Switzerland). 2021; 11(11).

BACKGROUND: Autism spectrum disorder (ASD) is a chronic and persistent pervasive developmental disorder (PDD) whose characteristic deficit is represented by social difficulties, semantic-pragmatic alterations and a limited, unusual and repetitive pattern of interests and behaviors. Specifically, individuals with high-functioning autism (HFA) frequently exhibit associated internalizing symptoms that are not part of the diagnostic criteria but which, nonetheless, tend to impair daily functioning. In this study, we investigated how some forms of treatment could be useful in subjects with HFA who display internalizing symptoms. Theoretical background relates to standard cognitive therapy (SCT) and rational education training with mindfulness (M-ERE). METHODS: In this study, we investigated how some forms of treatment could be useful in subjects with HFA and internalizing symptoms, focusing on standard cognitive therapy (SCT) and mindfulness associated with emotional rational education training (M-ERE). We selected two groups of HFA patients with significant internalizing symptoms and performed two different forms of treatment for six months: SCT and M-ERE. The aim of the study was to verify the effectiveness of an M-ERE protocol with respect to anxious and depressive symptoms in subjects with HFA. Furthermore, we wanted to compare the results obtained with this combined treatment with those obtained in HFA subjects treated with SCT. RESULTS: Our analyses showed an improvement in the internalizing symptoms (especially those related to the anxiety dimension) of the group that followed a treatment based on mindfulness and rational emotional education for 6 months compared to the group that had instead performed a 6-month treatment based on the SCT. CONCLUSIONS: Our hypotheses were supported by the results, which highlighted the efficacy of mindfulness-based interventions in the treatment of internalizing symptoms in adolescents with HFA, and specifically showed that an M-ERE intervention appears more effective in managing anxiety compared to treatment with SCT and appears to be equally effective in the management of depressive symptoms. Not only was the M-ERE treatment effective for the management of anxious and depressive symptoms in subjects with HFA, but the efficacy for the management of anxious symptoms was greater than the SCT treatment.

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5. Grosvenor LP, Whitney DG, Volk HE, Fallin MD. Exploring a Role for Parental Mental Health in Perception and Reports of Pain on Behalf of Children with Autism Spectrum Disorder. Autism research and treatment. 2021; 2021: 2981383.

Children with autism spectrum disorder (ASD) have a higher prevalence of pain compared to those without ASD. Pain is a leading cause of morbidity and disability worldwide and may contribute to adverse health outcomes in people with ASD, thus warranting further research on this special population. The present study used data from 1,423 children with ASD and 46,023 children without ASD and their mothers from the combined 2016-2017 National Survey of Children’s Health. Mothers reported child pain and ASD status and their own mental health status. Mothers reporting a status of « Fair or Poor » were considered as having maternal mental health conditions (MMHCs) for the purposes of this study. Children with and without ASD who had mothers with MMHCs had higher odds of pain compared to children with mothers without MMHCs. These increased odds did not attenuate as a result of controlling for co-occurring neurological conditions, which have been associated with increased pain in children with ASD. Thus, parent mental health may alter perception and/or reports of pain on behalf of children with and without ASD. Future research should include more detailed assessments of parent mental health and clinical assessments of children in order to explore the role of parent mental health in the experiences of pain and other symptoms present in children with ASD.

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6. Liu W, Li M, Zou X, Raj B. Discriminative Dictionary Learning for Autism Spectrum Disorder Identification. Frontiers in computational neuroscience. 2021; 15: 662401.

Autism Spectrum Disorder (ASD) is a group of lifelong neurodevelopmental disorders with complicated causes. A key symptom of ASD patients is their impaired interpersonal communication ability. Recent study shows that face scanning patterns of individuals with ASD are often different from those of typical developing (TD) ones. Such abnormality motivates us to study the feasibility of identifying ASD children based on their face scanning patterns with machine learning methods. In this paper, we consider using the bag-of-words (BoW) model to encode the face scanning patterns, and propose a novel dictionary learning method based on dual mode seeking for better BoW representation. Unlike k-means which is broadly used in conventional BoW models to learn dictionaries, the proposed method captures discriminative information by finding atoms which maximizes both the purity and coverage of belonging samples within one class. Compared to the rich literature of ASD studies from psychology and neural science, our work marks one of the relatively few attempts to directly identify high-functioning ASD children with machine learning methods. Experiments demonstrate the superior performance of our method with considerable gain over several baselines. Although the proposed work is yet too preliminary to directly replace existing autism diagnostic observation schedules in the clinical practice, it shed light on future applications of machine learning methods in early screening of ASD.

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7. Lopez-Diaz JM, Felgueras Custodio N, Garrote Camarena I. Football as an Alternative to Work on the Development of Social Skills in Children with Autism Spectrum Disorder with Level 1. Behavioral sciences (Basel, Switzerland). 2021; 11(11).

Given the characteristics of people with Autism Spectrum Disorder, it is evident the difficulties they show in the development of social skills. The scarce participation of people with Autism Spectrum Disorder in group sports can be taken as a reference. The aim of this study was to analyse the impact of football on the development of social skills in children with Autism Spectrum Disorder. In order to measure the sporting impact, it was necessary to implement a football training programme with the intention of evaluating different social skills. Thirteen children participated in the programme, all of them with a diagnosis of Autism Spectrum Disorder and with a severity level of 1. The study was based on a pre-experimental, pre-test/post-test design. Non-parametric tests were used for the statistical analysis, applying the Wilcoxon test. Two specific tools on social skills were used for data collection. The results showed a generalised improvement in the dimensions linked to the social skills assessed. This highlights the possibility of considering group sport as an alternative to be taken into account to work on and enhance social skills in children with Autism Spectrum Disorder.

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8. Mathew R, Attarha BO, Kallumkal G, Cribbin M, Izzo C, Edwards L, Jacob R. A Primary Care Approach to Constipation in Adults with Intellectual and Developmental Disabilities. Advances in medicine. 2021; 2021: 3248052.

Constipation is a condition that is very prevalent and is reported in up to 40 percent of individuals with intellectual and developmental disabilities (IDD). Constipation in this patient population is most commonly secondary to neuromuscular abnormalities, immobility, suboptimal diet, and medication side effects. History taking is frequently limited in adults with IDD due to communication barriers, often leading to a missed diagnosis of constipation. Inadequately treated constipation may lead to adverse effects including behavioral disturbances, fecal impaction, intestinal obstruction, and even death from intestinal perforation and sepsis. As a result, a high index of suspicion must exist for this patient population. Treatment in these patients requires an individualized approach, to reduce the constipation and its associated health complications.

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9. Meneely SJ, McFadzean J. Acute respiratory compromise due to bilateral pneumothoraces in a patient with Rett syndrome. Anaesthesia reports. 2021; 9(2): e12135.

This is a case of acute respiratory distress in a nine-year-old with severe Rett syndrome who required immediate anaesthetic assistance in the emergency department and during her subsequent hospital stay. Rett syndrome is a rare inherited neurodevelopmental disease that more commonly affects females. It is characterised by a period of normal development up to between six and 18 months of age, followed by a gradual but progressive loss of developmental skills leading to severe cognitive and physical decline. Other features include autistic-type behaviour, oral-motor and autonomic dysfunction and gastrointestinal disturbance. Patients can present for elective surgery for scoliosis correction, ear, nose and throat procedures or placement of a gastrostomy. They can also present acutely, either with an un-associated condition or due to aspiration from a poor gag or swallow. This report highlights the specific risks relevant to anaesthesia in patients with Rett syndrome, especially in considering the association with bilateral apical bullae and pneumothorax which could impact on the ventilation strategy.

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10. Rein B, Conrow-Graham M, Frazier A, Cao Q, Yan Z. Inhibition of histone deacetylase 5 ameliorates abnormalities in 16p11.2 duplication mouse model. Neuropharmacology. 2022; 204: 108893.

Microduplication of the human 16p11.2 gene locus is associated with a range of neurodevelopmental outcomes, including autism spectrum disorder (ASD). Mice carrying heterozygous 16p11.2 duplication (16p11.2(dp/+)) display social deficits, which is attributable to impaired GABAergic synaptic function in prefrontal cortex (PFC) driven by downregulation of Npas4, an activity-dependent transcription factor that regulates GABA synapse formation. However, the molecular mechanisms underlying the diminished transcription of Npas4 in 16p11.2 duplication remain unknown. Npas4 is one of the target genes regulated by histone deacetylase 5 (HDAC5), an epigenetic enzyme repressing gene expression via removal of transcription-permissive acetyl groups from histones. Here we report that HDAC5 expression is elevated and histone acetylation is reduced at the Npas4 promoter in PFC of 16p11.2(dp/+) mice. Treatment with the HDAC5 inhibitor LMK235 normalizes histone acetylation, restores GABAergic signaling in PFC, and significantly improves social preference in 16p11.2(dp/+) mice. These findings suggest that HDAC5 inhibition is a promising therapeutic avenue to alleviate genetic, synaptic and behavioral deficits in 16p11.2 duplication conditions.

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11. Romani M, Martucci M, Castellano Visaggi M, Prono F, Valente D, Sogos C. What if sharing music as a language is the key to meeting halfway? Absolute pitch, pitch discrimination and Autism Spectrum Disorder. La Clinica terapeutica. 2021; 172(6): 577-90.

BACKGROUND: Absolute pitch is the ability to identify a given note in the absence of a reference note. The prevalence of absolute pitch in autism is between 5% and 11% and autism involves notably enhanced abilities in pitch discrimination. OBJECTIVES: To summarize the evidence about the role and the meaning of these special skills in autism. METHODS: Systematic electronic database searches were conducted using Pubmed, Scopus, Psycinfo, and Web of Science. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRI-SMA) guideline was followed, and, after thorough screening by two independent reviewers, 17 articles remained eligible for inclusion in this study. RESULTS: We have two different groups of results. Eight case-control studies discuss pitch discrimination and autism. The second group included four case reports about autistic individuals with absolute pitch and five case-control studies. These results strongly suggest that music elicits special attention for children with autism, and taken together, this evidence supports a major frequency of AP in autistic children. CONCLUSION: Based on this evidence, future perspectives could include studies aiming to detect absolute pitch at an early age and to use this special skill to stimulate joint attention, as well as socio-communicative skills.

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12. Sedgewick F, Leppanen J, Austin A, Tchanturia K. Different pathways, same goals: A large-scale qualitative study of autistic and non-autistic patient-generated definitions of recovery from an eating disorder. European eating disorders review : the journal of the Eating Disorders Association. 2021.

BACKGROUND: Definitions of recovery from an eating disorder (ED) have generally been formulated around clinical conceptualisations, rather than based on the views of patients. This paper therefore asked those with lived experience of ED for their own definitions of recovery. METHOD: Data were collected as part of an online study looking at EDs, autism and relationships. About 173 participants identified as recovered from ED and gave free-response definitions of recovery. Responses were subject to thematic analysis. RESULTS: Seven major themes were identified: Weight restoration, lack of ED behaviours, thoughts and behaviours, cognitions, emotional responses, getting on with life, and ongoing challenges. CONCLUSIONS: Many definitions of recovery given by those who have lived experience of ED echoed those used by clinicians and researchers. There were also points of divergence around the ongoing challenges of recovery. Our findings highlight the need for continuing support post-weight restoration to facilitate the successful long-term recovery for those with ED.

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13. Tang JS. Editorial comment on « Diagnosing autism spectrum disorder in children using conventional MRI and apparent diffusion coefficient based deep learning algorithms ». European radiology. 2022; 32(2): 759-60.

This editorial comment refers to the article: « Diagnosing autism spectrum disorder in children using conventional MRI and apparent diffusion coefficient based deep learning algorithms » by Guo et al. (Eur Radiol, 2021). KEY POINTS: •Deep learning may help to uncover imaging features of autism spectrum disorder on MRI.

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14. Uljarević M, Alvares GA, Steele M, Edwards J, Frazier TW, Hardan AY, Whitehouse AJ. Toward better characterization of restricted and unusual interests in youth with autism. Autism : the international journal of research and practice. 2021: 13623613211056720.

Despite being highly prevalent among people with autism, restricted and unusual interests remain under-researched and poorly understood. This article confirms that restricted interests are very frequent and varied among children and adolescents with autism. It also further extends current knowledge in this area by characterizing the relationship between the presence, number, and type of restricted interests with chronological age, sex, cognitive functioning, and social and communication symptoms.

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15. Vernhet C, Michelon C, Dellapiazza F, Rattaz C, Geoffray MM, Roeyers H, Picot MC, Baghdadli A. Perceptions of parents of the impact of autism spectrum disorder on their quality of life and correlates: comparison between mothers and fathers. Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation. 2022; 31(5): 1499-508.

PURPOSE: To compare mothers and fathers perceptions of the impact of autism spectrum disorder on their Quality of Life (QoL), we used the Parental-Developmental Disorders-Quality of Life scale (Par-DD-QoL). METHOD: The perception of QoL of mothers and fathers was compared for 130 pairs of parents of children with ASD and the associated variables were investigated. RESULTS: Mothers perceived a significantly greater impact of ASD on their QoL than fathers. Parents perceived a higher impact of ASD on global QoL when their child’s adaptive skills were low and when the level of aberrant behaviors was high. More precisely, the perception of QoL by the mothers was negatively associated with their child’s internalized disorders, whereas the perception of QoL by the fathers was negatively associated with their child’s externalized disorders. Neither the mothers’ nor the fathers’ perception of the impact on QoL was associated with their children’s age or the severity of their autistic symptoms. Some parental factors, such as being members of a family association, having benefited from training in ASD and having experienced a disruption in professional activity were associated with a greater impact on their QoL. CONCLUSION: Our finding that the perceived impact of ASD on QoL differed between mothers and fathers argues for individualized psychosocial support. Moreover, the strong correlation between the child’s clinical characteristics and the perception by parents of a higher impact of ASD on QoL should be seen as red flag concerning the needs of the parents in terms of social and educational support. TRIAL REGISTRATION NUMBER: NCT02625116 (October 2015).

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16. Woods E, Spiller M, Balasubramanian M. Report of two children with global developmental delay in association with de novo TLK2 variant and literature review. American journal of medical genetics Part A. 2022; 188(3): 931-40.

We describe clinical details, including novel findings, of two further children with the newly defined TLK2-related disorder. One patient was recruited to the Deciphering Developmental Delay (DDD) Study to identify underlying etiology of global developmental delay. The other was detected on whole-exome sequencing as part of second line investigations following normal microarray. Both patients were found to have de novo heterozygous pathogenic TLK2 variants. A novel c.6del p.(Glu3Lysfs*) loss-of-function frameshift variant was found in Patient 1. A c.1121+1G>A splice-donor variant was detected in Patient 2. TLK2-related neurodevelopmental disorder is a specific syndrome that has been recently described. Global developmental delay, behavioral problems, gastrointestinal disorders, and typical facial dysmorphism are common features. Neuropsychiatric disorders, ophthalmic, musculoskeletal and cranial abnormalities, as well as short stature, have also all been described. The novel findings we describe include sleep disturbance, nondifferentiation of lateral semi-circular canals (where asymmetric semi-circular canals were a feature in the previous cohort), vesico-ureteric reflux, and bilateral periauricular skin tags. Here, we report a novel TLK2 variant and previously undescribed features of TLK2-related disorder, to expand the clinical phenotype and provide further genotype-phenotype correlation.

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