Social Communication Difficulties Research Articles

Gut Reactions: How Far Are We from Understanding and Manipulating the Microbiota Complexity and the Interaction with Its Host? Lessons from Autism Spectrum Disorder Studies.

Autism is a group of neurodevelopmental disorders, characterized by early onset difficulties in social communication and restricted, repetitive behaviors and interests. It is characterized by familial aggregation, suggesting that genetic factors play a role in disease development, in addition to developmentally early environmental factors. Here, we review the role of the gut microbiome in autism, as it has been characterized in case-control studies. We discuss how methodological differences may have led to inconclusive or contradictory results, even though a disproportion between harmful and beneficial bacteria is generally described in autism. Furthermore, we review the studies concerning the effects of gut microbial-based and dietary interventions on autism symptoms. Also, in this case, the results are not comparable due to the lack of standardized methods. Therefore, autism-specific microbiome signatures and, consequently, possible microbiome-oriented interventions are far from being recognized. We argue that a multi-omic longitudinal implementation may be useful to study metabolic changes connected to microbiome changes.

Enriching Human-Robot Interaction with Mobile App in Interventions of Children with Autism Spectrum Disorder.

Introduction: Autism spectrum disorder (ASD) is a group of complex lifelong neurodevelopmental disorders, characterized by difficulties in social communication and stereotyped behaviours. Due to the increasing number of children with ASD, it is important to continue developing interventions as well as invent new ones. Human-robot interaction can contribute to better outcomes for these children. There are several robots such as Nao, Kaspar, ZENO, Probo, ZECA, etc. which are used in autism interventions. Many mobile and web applications are in constant growth, too. They target skills such as collaboration, social skills, language skills, social competence, and communication. Aim: To explore the usability of the humanoid robot Kaspar and a complementary app in interventions of children with ASD. Sample: 20 children with ASD, aged between 23 and 76 months old. Method: As an added intervention for this group of children, we used the robot Kaspar and its complementary app. Kaspar is a child-sized humanoid robot that uses bodily expressions, facial expressions, gestures, and pre-recorded speech to interact with a human. Results: This intervention achieved certain positive shifts in eight of the eleven measured developmental domains, such as communication functions and means, turn taking, imitation, language skills, play, attention and daily life skills. The three categories that had inconsiderable improvement are vocalization and speech, cause and effect and coping skills. Conclusion: Based on the measurements before and after the use of Kaspar and its complementary app, there is improvement, primarily in the domains of language, imitation and communication skills and attention.

Is the gluten-free and casein-free diet efficacious in the treatment of childhood autism spectrum disorder?

Autism spectrum disorder (ASD) is a set of heterogeneous neurodevelopmental conditions, characterized by early-onset difficulties in social communication as well as repetitive and unusually restricted behaviors and interests. The treatment of ASD is based primarily on psychoeducational and behavioral interventions. Since the effectiveness of available treatments for ASD is limited, many families search for alternative therapies, such as the gluten-free and casein-free (GFCF) diet. Despite the popularity of the GFCF diet as a supplementary treatment in children with ASD, several rigorous evaluations have failed to confirm its effectiveness. The majority of the available studies examining the efficacy of the GFCF diet are seriously flawed and allow no firm conclusions. The available evidence regarding the effectiveness of the GFCF diet in the treatment of childhood ASD is very weak and cannot be considered promising. The GFCF diet should be used only if an allergy or intolerance to nutritional gluten or casein has been established. The identification of a hypothetical diet-related ASD phenotype may help in selecting children who could benefit from a GFCF dietary intervention. An important consideration is that potentially ineffective therapies may imply considerable opportunity costs, with other possibly more effective treatment approaches remaining unutilized.

A Phase II Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy, Safety, and Tolerability of Arbaclofen Administered for the Treatment of Social Function in Children and Adolescents With Autism Spectrum Disorders: Study Protocol for AIMS-2-TRIALS-CT1.

Background: Autism Spectrum Disorder (ASD or autism) is characterized by difficulties in social communication and interaction, which negatively impact on individuals and their families' quality of life. Currently no pharmacological interventions have been shown to be effective for improving social communication in autism. Previous trials have indicated the potential of arbaclofen for improving social function among autistic children and adolescents with fluent speech. The AIMS2TRIALS-Clinical Trial 1 (AIMS-CT1) will examine whether arbaclofen is superior to placebo in improving social function and other secondary outcomes over 16 weeks, along with safety and tolerability profiles.Methods: AIMS-CT1 is an international, multi-site, double-blind, parallel group Phase II randomized clinical trial. It will include 130 males and females aged 5:0–17:11 years, with a diagnosis of ASD and fluent speech. Eligible participants will be randomized on a ratio of 1:1 for a 16-week treatment period. Medication will be titrated over 5 weeks. The primary outcome is the effect on social function from weeks 0 to 16 measured on the Socialization domain of the Vineland Adaptive Behavior Scales, 3rd editionTM. Secondary outcome measures include the CGI–S (Clinical Global Impression–Severity), CGI–I (Clinical Global Impression–Improvement), other areas of adaptive function, social communication and other autism symptoms, co-occurring behavior problems and health-related quality of life. Genetic and electrophysiological markers will be examined as potential stratifiers for treatment response. Exploratory novel digital technologies will also be used to measure change, examining simultaneously the validity of digital biomarkers in natural environments. The safety and tolerability of the drug will also be examined. Our protocol is very closely aligned with a parallel Canadian trial of 90 participants (ARBA Study, US NCT number: NCT03887676) to allow for secondary combined analyses. Outcomes will be compared using both an Intent-to-reat and Per Protocol approach.Discussion: The outcomes of this trial, combined with the parallel Canadian trial, will contribute to the evidence base for medications used to help social difficulties among young autistic individuals; demonstrate the capabilities of the AIMS-2-TRIALS network of academic centers to deliver clinical trials; and support future drug development.Clinical Trial Registration: EudraCT number: 2018-000942-21 and ClinicalTrials.gov registry number: NCT03682978. Currently under protocol v.7.2, dated 20.11.2020.

A preliminary epidemiologic study of social (pragmatic) communication disorder in the context of developmental language disorder.

There is extremely limited population-based research on social (pragmatic) communication disorder (SCD). Population-based samples have the potential to better characterize the SCD phenotype by mitigating confounds and biases that are typical of convenience and clinical samples. The aims of this preliminary epidemiologic study were to advance our understanding of the SCD phenotype relative to developmental language disorder (DLD), obtain an estimate of prevalence, identify risk factors and lay the groundwork for future population level research of SCD. We analysed existing data from the EpiSLI Database to examine social communication skills in 393 8th grade (13-14 years) children with and without a history of DLD. The primary measure used to evaluate SCD was the Children's Communication Checklist (CCC-2). Two case definitions of SCD reflecting DSM-5 criteria were examined. Both definitions involved significant pragmatic impairment, employing a commonly adopted clinical cut-point of 1.5 SD. In one case, pragmatic deficits could occur along with structural language deficits and, in the other case (established using principal component analysis), pragmatic and social skills were disproportionately lower than structural language abilities. When using the first case definition, SCD was much more common in children with a history of DLD than without DLD and history of language disorder at kindergarten was a significant risk factor for SCD in adolescence. However, it is important to note that SCD could be found in children with no prior deficits in other aspects of language. When the second definition was employed, SCD was equally distributed across children with and without a history of DLD. Male sex was a significant risk factor using this case definition of SCD. The estimated prevalence of SCD ranged from 7% (SE = 1.5%) to 11% (SE = 1.7%), acknowledging that prevalence depends on the cut-point selected to determine communication disorder. These findings contribute to our understanding of the association between SCD and DLD by recognizing varying profiles of pragmatic and social communication difficulties, which in turn may help refine our diagnostic categories. Preliminary prevalence estimates of SCD can serve as an initial guidepost for identification and planning for intervention services for this condition. What is already known on this subject There is considerable debate about the diagnostic category of SCD and its relation to other neurodevelopmental disorders. What this study adds to existing knowledge Using data from a US-based epidemiologic sample of DLD, this study offers new information about the association between SCD and DLD, provides preliminary estimates of SCD prevalence, and identifies risk factors for SCD. Clinical implications of this study Improved understanding of possible profiles of pragmatic and social communication deficits will help to clarify diagnostic categories and preliminary prevalence estimates may assist with ensuring availability of adequate intervention services.

Motor intervention and autism: one way, several domains of effectiveness

In the literature, a delay in the development and acquisition of motor skills is generally described in children with autism spectrum disorder, affecting between 50% and 80% of this population. In spite of this high frequency of occurrence, motor difficulties are not yet considered in the same way as the core deficits of this disorder (difficulties in social interaction, communication and behavior); addictionaly, there is not yet enough research about the efficacy of a specific intervention that can support the development of motor functions compromised in autism. Recent findings, which support the correlation between motor domain and other areas of development (social and cognitive), together with other evidence that underline the benefits of practicing motor activities on the individual's well-being, lead us to re-evaluate the effects of motor intervention for autism. To define the salient points of this kind of intervention, with particular attention to rehabilitation practice, a literature search was carried out on four different databases, which sifted through 602 bibliographic citations and found 10 studies that were able to meet the set research purposes. This review showed that physical activity in autistic children not only improves motor performance, but also plays an important role in the social, cognitive and behavioural development, as well as helping to reduce some secondary or associated symptoms, such as stereotypies or sleep disorders.

The comorbidity between autism spectrum disorder and post-traumatic stress disorder is mediated by brooding rumination

Autism spectrum disorder is a neurodevelopmental condition characterized by social communication difficulties and restricted repetitive behaviors. Individuals with autism spectrum disorder are often diagnosed with other psychiatric conditions, including attention deficit hyperactivity disorder, anxiety, and depression. However, research on post-traumatic stress disorder among individuals with autism spectrum disorder is scarce. Nonetheless, studies have shown that those with autism spectrum disorder may face an increased risk of exposure to traumatic events. Separate lines of research in autism spectrum disorder and post-traumatic stress disorder have shown that the two may share several vulnerability factors. One of those is ruminative thinking, that is, one's tendency to re-hash thoughts and ideas, in a repetitive manner. This article examined the role of two rumination types as potential factors connecting autism spectrum disorder and post-traumatic stress disorder: brooding (continuously comparing one's current condition to one's desired condition) and reflection (an introspective effort to cognitively solve one's problems). A total of 34 adults with autism spectrum disorder (with no intellectual impairment) and 66 typically developing adults completed questionnaires assessing post-traumatic stress disorder symptoms and rumination. The results showed increased post-traumatic stress disorder symptoms in adults with autism spectrum disorder, compared to typically developing adults. Brooding rumination was also higher among those with autism spectrum disorder. Finally, brooding, but not reflection, served as a mechanism connecting autism spectrum disorder and post-traumatic stress disorder, that is, those with autism spectrum disorder showed increased brooding, which in turn predicted more post-traumatic stress disorder symptoms. This study has potential clinical implications. Rumination and cognitive inflexibility, which are common in autism spectrum disorder, could exacerbate post-traumatic symptoms among individuals with autism spectrum disorder who experience traumatic events. Interventions targeting brooding rumination and cognitive flexibility may assist in alleviating post-traumatic symptoms in individuals with autism spectrum disorder.

Mental State Language Use in Children with Down Syndrome and the Role of Caregivers.

Children with Down syndrome (DS) have both strengths and difficulties in speech, language, and social communication. Mental state language-the ability to discuss others' perspectives such as their thoughts, feelings, and intentions-represents a foundational social communicative skill that is delayed in many children with DS, even into the school-age years. The purpose of this article is to review the evidence base on mental state language development in school-age children with DS, focusing in particular on assessment and intervention. We discuss assessment procedures that are both age appropriate and developmentally appropriate for this population. We also present preliminary data highlighting the role of caregivers in supporting mental state language development in school-age children with DS through shared storytelling. We propose that interventions aimed at supporting mental state language development in DS should include a focus on caregiver-child shared storybook reading, even in the school-age years. Therefore, we discuss key considerations for clinicians when teaching caregivers strategies for supporting mental state language and social communication in children with DS.

Assessment of quality of life in patients with aphasia

Introduction: Personal satisfaction (Quality of Life; QoL) is the person's impression of their own prosperity. Aphasia is the most significant likely result of stroke and profoundly affects a patient's life, causing enthusiastic pain, sadness, and social separation, because of loss of language capacities.
 Objective: To document personal satisfaction in patients with aphasia.
 Materials & Methods: A cross sectional study was conducted at a Speech Clinic from October 2018 to March 2019 on 57 patients of aphasia to assess their quality of life. Informed consent was taken from respondents. Patients having aphasia due to any neurological cause or traumatic brain injury were included in study, while patients having childhood aphasia were excluded. Standardized questionnaire “Measuring changes in Quality of life in persons with aphasia: Is Communication Confidence a good measure?” was used to obtain information from participants through purposive sampling. Data were collected by face to face interviews with patients and their caregivers. Descriptive data analysis was done through SPSS.
 Results: Majority (68.42%) of respondents did not feel confident about their ability to convey meaning via speech with people. Difficulties in social communication were also a reason of concern for 45.61% participants, whereas 50.87% participants stated that they could not make their decisions.
 Conclusion: Patients suffering from aphasia had low quality of life, mainly due to their communication disabilities and dependence on other people for understanding, as well as the fact that their caretakers had to take decisions for them.

An audit into the use of psychotropic medications in patients with autism spectrum disorder in a high security psychiatric hospital

AimsAutism Spectrum Disorder (ASD) is a common neurodevelopmental disorder associated with difficulties in social communication and language development, preoccupations, a need for routine, sensory sensitivities and emotional dysregulation. People with autism who have violently offended may be prescribed psychotropic medications to treat comorbidities, or off-license to manage aggressive or challenging behaviours. However, the evidence base for their use remains scarce.MethodThis was a retrospective audit at Broadmoor Hospital, a high security psychiatric hospital in the United Kingdom, into the safe and appropriate prescribing of psychotropic medicines in those with an ASD compared to guidance from the National Institute for Health and Care Excellence (CG142): “Autism spectrum disorder in adults: diagnosis and management”. This first cycle was undertaken during May and June 2020 and included all patients with a confirmed or equivocal diagnosis of ASD in the preceding five years.ResultA total of 22 participants were included in this study. Of these, 17 participants had a confirmed diagnosis of ASD and five participants had a suspected diagnosis of ASD, but without formal confirmation with neurocognitive testing. A total of 13 (76.5%) participants with confirmed ASD were prescribed antipsychotic medication, nine of whom had an established comorbid mental disorder with psychotic symptoms. Of the remaining four, three had a diagnosis of a personality disorder. Three participants in this study had a confirmed diagnosis of ASD without any additional comorbid mental health diagnoses. No patients were prescribed psychotropic medicines for the core symptoms of ASD. The specific documentation of off-license use of antipsychotic medicines in those without a diagnosis of a psychotic disorder was poor. This was not recorded in any such participant in the preceding 12 months.ConclusionThis audit highlighted that dual diagnoses of ASD alongside non-affective psychosis and personality disorder are over-represented in this high security setting. The NICE clinical guidelines CG142 guidelines state that “antipsychotic medications should only be used for behaviour that challenges if …. the risk to the person or others is very severe”. By definition, all patients admitted to high security are deemed to be a grave and imminent risk to the public. Psychotropic medicines may therefore be clinically indicated at a much earlier stage than in community patients, instigated alongside appropriate psychosocial interventions and treatment of comorbid conditions. It may be that catered guidelines need to be formulated to support the safe and appropriate prescribing of psychotropic medicine in forensic settings.

The prevalence and profile of autism in Sturge-Weber syndrome.

A systematic retrospective case note review was undertaken to investigate autism diagnostic factors in 124 individuals with Sturge-Weber syndrome (SWS). Social Responsiveness Scale questionnaires were then analysed to explore the severity and profile of autism characteristics in 70 participants. Thirty-two to forty percent of participants had a clinical diagnosis of autism and half of those without a diagnosis showed significant social communication difficulties. Children had a relative strength in social awareness and social motivation, which are typically much reduced in people with autism. This finding may explain why, to date, the diagnosis has often been overlooked in this population. The research therefore suggests that children with Sturge-Weber should be screened to identify social communications difficulties and provided with timely support.

Measuring social-communication difficulties in school-age siblings of children with autism spectrum disorder: Standardized versus naturalistic assessment.

Younger siblings of children with autism spectrum disorder (ASD; high-risk siblings) are at elevated risk for developing the broader autism phenotype (BAP), which consists of subclinical features of ASD. We examined conversational skills in a naturalistic context and standardized assessments of pragmatic language and communication skills in high-risk and low-risk school-age children with BAP (n=22) and ASD (n=18) outcomes, as well as comparison children without ASD or BAP (n=135). Children with BAP characteristics exhibited lower conversational skills than comparison children, but did not differ on any of three standardized measures. Only the conversational ratings significantly predicted membership in the BAP versus Comparison group. This suggests that naturalistic tasks are crucial when assessing social-communication difficulties in children with a family history of ASD. LAY SUMMARY: The broader autism phenotype (BAP) consists of subclinical features of autism spectrum disorder (ASD) and is more common among family members of those with ASD. School-age children with BAP characteristics exhibited lower conversational skills than comparison children, but did not differ on standardized language measures tapping similar abilities. This suggests that naturalistic tasks may be more sensitive to the social-communication difficulties seen in some children with a family history of ASD than the standardized language tests used in most evaluations.

Arte-Educação, Transtorno do Espectro Autista-TEA e possibilidades educativas

O estudo teve como objetivo compreender a criança com Transtorno do Espectro Autista (TEA) na primeira infância (de zero a dois anos), refletindo sobre as possiblidades construtivas da Arte-Educação para o desenvolvimento e aprendizagem da criança. O TEA é caracterizado por dificuldades no desenvolvimento da linguagem, nos processos de comunicação e por déficits nos processos de socialização. A Arte pode proporcionar experiências e oportunidades de construção sensoriais, cognitivas e afetivas, e que dialoga com intervenções terapêuticas- pedagógicas na Educação de crianças atípicas com dificuldades na interação social e na comunicação. A pesquisa de abordagem qualitativa foi realizada por meio de entrevista narrativa com a mãe de uma criança com TEA. Os resultados sugerem que a criança desde os primeiros meses apresentou sinais do TEA como: dificuldade de amamentação, a ausência de contato visual, descontentamento nos momentos de toque, pouca reação a voz humana, fixação por objetos que pudessem ser girados e um padrão repetitivo de organização. A arte desperta, no bebê, múltiplas sensações: cria laços afetivos, promove o aconchego, estimula percepções sensoriais e movimento e precisam ser estimulados para essa expressão. Conclui-se que a criança com TEA na primeira infância, pode se beneficiar das possiblidades construtivas da Arte-Educação, como fator benéfico para o progresso interativo da criança.

Psychotropic medication prescribing in people with autism spectrum disorders with and without psychiatric comorbidity

SUMMARYAutism spectrum disorders (ASDs) are a group of lifelong neurodevelopmental disorders characterised by difficulties in social interactions and social communication, and restricted and repetitive behaviours. Relative to the general population, individuals with ASDs are likely to be overrepresented in secure psychiatric care and custodial settings. Outcomes vary and can be problematic in the context of co-occurring intellectual disability, psychiatric disorder and challenging behaviours. To date, there is little in the way of specialised clinical guidance on the prescription of psychotropic medicines for individuals with ASDs, particularly information on any differences in efficacy and/or tolerability of specific medications. This review summarises the key research to date on the prescription of psychotropic medication in ASD with and without comorbid psychiatric or neurodevelopmental disorders, within the context of the existing clinical guidance. Some critical analysis is provided to aid clinicians in following a safe, effective and individualised approach to prescribing for people with ASDs.

Autism Spectrum Disorder

Key Points Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication difficulties and restrictive or repetitive behaviors and interests.Early behavioral intervention has been demonstrated to improve some developmental outcomes.According to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition, the diagnosis of ASD is made clinically and is not dependent on any specific instrument or tool.Educational advocacy may be necessary as a child with ASD progresses through school, to ensure that services match appropriate educational goals as the child ages.Transition planning can ensure that services are not dropped when an adolescent with ASD becomes a young adult.Neurodiversity is an important framework for supporting adults with ASD to have meaningful roles in society.

Subjective responses to emotional body odors and common odors in autism-spectrum disorders

IntroductionAutism-spectrum disorders (ASD) are characterized by deficits in social domains, associated with abnormal socioemotional perception. Although olfaction provides access to socioemotional cues, little is known about the perception of emotional odors considering their social meaning in ASD.ObjectivesTo investigate the subjective responses to emotional body odors (BOs) versus non-social, common odors (COs) in ASD.MethodsEleven ASD and 49 typically developed (TD) adults were asked to smell negative, positive, and neutral BOs (axillary sweat from healthy individuals exposed to fearful, happy, and neutral film-clips) and COs, and to rate each odor on perceived pleasantness, intensity, familiarity and arousal. Odors were presented for 5 sec. Analyses were performed with linear mixed-effect models with fixed factors (group × odor type × valence) and covariates (e.g., age; intensity for arousal/familiarity; familiarity for pleasantness). Post-hoc comparisons were Bonferroni-corrected.ResultsOdors were perceived as significantly more intense (p=.044) and pleasant (p<.001) in ASD than TD. Distinct response patterns were found in ASD and TD. First, positive BOs and COs were similarly arousing and pleasant in ASD (p>.05), but not in TD (p<.001). Second, positive and neutral COs were equally arousing, familiar and pleasant in ASD (p>.05), but not in TD (p<.001). No differences were observed between BOs in ASD and TD (p>.05).ConclusionsASD is associated with abnormal subjective responses to emotional odors, which could contribute to the social communication difficulties characterizing ASD. Since emotional BOs elicit psychological responses in others, analyses on subjective and automatic responses will allow a better understanding of the role of olfaction in ASD.DisclosureNo significant relationships.

Autobiographical Memory and Social Identity in Autism: Preliminary Results of Social Positioning and Cognitive Intervention.

Autobiographical memory (AM) is closely linked to the self-concept, and fulfills directive, identity, social, and adaptive functions. Individuals with autism spectrum disorder (ASD) are now known to have atypical AM, which may be closely associated with social communication difficulties. This may result in qualitatively different autobiographical narratives, notably regarding social identity. In the present study, we sought to investigate this concept and develop a cognitive intervention targeting individuals with ASD. First, 13 adolescents with ASD and 13 typically developing adolescents underwent an AM interview featuring an original coding system designed to analyze the social self. We observed that the narratives produced by the ASD group focused more on the family than on extended social spheres, compared with those of the comparison group. Moreover, participants with ASD did not include themselves in the social groups they mentioned, and produced more references to others, compared with typically developing participants. Second, we designed a cognitive intervention program consisting of individual and group sessions that targeted AM. We conducted a pilot study among three adolescents with ASD aged 12, 16, and 17 years. Preliminary results showed that the program increased extra-family narrative references by the two youngest adolescents, who produced more social integration markers. Our study of autobiographical narratives yielded interesting findings about social positioning in ASD and showed how AM can be targeted in rehabilitation programs as a vector of social interaction.

New approaches to social skills training: Blended group interventions for girls with social communication difficulties.

Social skills group interventions are increasing popular for children with social communication disorders but there is little evidence of their acceptability or effectiveness when delivered online. We report a feasibility study that adapted the Program for Education and Enrichment of Relational Skills (PEERS) to provide an intensive 8week online delivery to female adolescents, blended with some face-to-face group meetings. A systematic multiple-case series design with case tracking was developed, comprising a 3-month baseline, a 2-month intervention and a 3-month follow-up period. Seven adolescents with Turner Syndrome and social communication difficulties (17-20 years) took part, together with their parents. Acceptability and feasibility were assessed by means of qualitative feedback and attendance rates. Changes in social adaptation were tracked using measures of social knowledge, social behaviour and autistic symptoms, plus anxiety and self-esteem. Attendance rates were consistently high and there were no dropouts. Qualitative feedback indicated the online format was acceptable to both the participants and their families. Objective outcome measures showed significant gains in social knowledge and improved social initiations from measures made during the pre-intervention baseline. This proof-of-principle pilot study demonstrated blended social skills interventions are both feasible and acceptable to adolescent females with social communication difficulties. LAY SUMMARY: Social skills groups are increasingly popular for children with social communication disorders, but there is little evidence for their use online. Psychological treatments that require weekly face-to-face sessions for both children and their parents are associated with practical difficulties, disrupting family life and school commitments. Our study, is the first to use a blended online and face-to-face social skills training program for adolescent girls with social communication difficulties. We showed that this new approach to treatment was acceptable to families and has a positive and significant impact on participant's social performance and social knowledge. This new treatment approach may increase the accessibility of treatment for adolescents and young adults, especially those with social communication difficulties. Autism Res 2021, 14: 1061-1072. © 2021 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals LLC.

Impact of the COVID-19 Pandemic on Children with ASD and Their Families: An Online Survey in China.

BackgroundThe COVID-19 pandemic and lockdown will have short-term and long-term psychosocial and mental health implications for children. Children with autism may have some specific needs for support because of their difficulties in social communication, stereotyped behavior patterns, and other specificities brought about by autism.PurposeThe purpose of this study was to investigate the impact of the COVID-19 pandemic on ASD children and their families.Patients and MethodsA total of 406 parents of ASD children completed an online survey investigating basic information; sleep, outdoor activities, and rehabilitation training; ASD children’s frequency of abnormal behaviors; and stress and emotional status of parents.Results50.3% of the parents thought their children had sleep problems, and 47.3% of the parents thought their children’s outdoor activity time was reduced. About 40% of parents think that their children have improved cognitive ability, language expression, and understanding. 36.2% of the families reported that their children’s emotional and social performance became worse. 60.8% of parents reported that their children’s training intensity decreased. The most common abnormal behaviors observed in children with ASD were being easily distracted, losing temper, and crying. 81.3% of parents did not have anxiety, but 98% of parents reported that family training was under pressure.ConclusionThe main impact of the COVID-19 pandemic on children with ASD is that they do not have access to professional rehabilitation training. These families need more medical support, especially in family training, to help parents improve the social and emotional control skills of ASD children.

Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis.

Heterozygous mutations in the TCF12 gene were discovered in 2013 as a cause of craniosynostosis (CS). However, limited information regarding the behavioral phenotypic profile is available. Here the authors provide the first detailed study of the neurodevelopmental, cognitive, and psychosocial outcomes for patients with a pathogenic TCF12 variant and associated CS.A clinical casenote audit was conducted at the 4 UK highly specialized craniofacial centers. A total of 35 patients aged 18 months to 10 years with an identified TCF12 pathogenic variant and CS (bicoronal CS = 45.7%, unicoronal CS = 40.0%, multisuture = 14.3%) were included. Standardized screening and/or assessment of full-scale intelligence quotient, social communication, development, behavior, and self-concept were conducted.In the majority of cases, outcomes were consistent with age-related expectations. About 75% of patients demonstrated no delay across any early developmental domain, while 84.6% demonstrated full-scale intelligence quotient scores within 1 standard deviation of the population mean. Significant behavioral difficulties were demonstrated by parent reporters in 26.3% to 42.1% of cases (dependent upon domain). Clinically elevated social communication profiles were present in (41.7%) of parent-reported cases. Levels of self-concept (at age 10) were consistent with age-related normative data.Most patients with a TCF12 pathogenic variant had a mild behavioral and cognitive phenotype, although they may be at a slightly increased risk of social communication difficulties and psychosocial issues. Although not measured statistically, there were no clear associations between surgical history and cognitive, behavioral, or psychosocial outcomes. This paper highlights the need for robust integrated developmental assessment of all CS patients, particularly those with an identified syndrome.