Cross-sectional and longitudinal assessment of cognitive development in Williams syndrome.

Williams syndrome (WS) is a rare genetic syndrome. As with all rare syndromes, obtaining adequately powered sample sizes is a challenge. Here we present legacy data from seven UK labs, enabling the characterisation of cross-sectional and longitudinal developmental trajectories of verbal and non-verbal development in the largest sample of individuals with WS to-date. In Study 1, we report cross-sectional data between N = 102 and N = 209 children and adults with WS on measures of verbal and non-verbal ability. In Study 2, we report longitudinal data from N = 17 to N = 54 children and adults with WS who had been tested on at least three timepoints on these measures. Data support the WS characteristic cognitive profile of stronger verbal than non-verbal ability, and shallow developmental progression for both domains. Both cross-sectional and longitudinal data demonstrate steeper rates of development in the child participants than the adolescent and adults in our sample. Cross-sectional data indicate steeper development in verbal than non-verbal ability, and that individual differences in the discrepancy between verbal and non-verbal ability are largely accounted for by level of intellectual functioning. A diverging developmental discrepancy between verbal and non-verbal ability, whilst marginal, is not mirrored statistically in the longitudinal data. Cross-sectional and longitudinal data are discussed with reference to validating cross-sectional developmental patterns using longitudinal data and the importance of individual differences in understanding developmental progression.

Longitudinal association of conduct and emotional problems with school exclusion and truancy: A fixed effect analysis of the UK Millennium Cohort Study.

BACKGROUND: There is a need for causally stronger research on the association between child mental health and school exclusion and truancy. This study examines school exclusion and truancy in relation to both conduct and emotional problems and considers these problems both as predictors and as outcomes of school exclusion and truancy. METHOD: The sample included 15,236 individuals from the Millennium Cohort Study, a UK longitudinal birth cohort study. Conduct and emotional problems were assessed from childhood to adolescence (age 7, 11, 14 and 17 years), and reports of school exclusion and truancy were collected at age 11 and 14. Fixed effect analyses were used. RESULTS: Increases in conduct problems and emotional symptoms were associated with subsequent exclusion (OR 1.22, [95% CI 1.08-1.37] and OR 1.16, [1.05-1.29], respectively). Emotional symptoms, but not conduct problems, predicted truancy (OR 1.17, [1.07-1.29]). These estimates were similar for males and females. Exclusion was associated with an increase in conduct problems at age 14 (0.50, [0.30-0.69]), and for males, it was associated with an increase in emotional symptoms both at age 14 (0.39, [0.12-0.65]) and 17 (0.43, [0.14-0.72]). Truancy was associated with an increase in conduct problems at age 14 (0.41, [0.28-0.55]), and for females also at age 17 (0.22, [0.03-0.42]), and it was associated with increased emotional symptoms at age 14 (0.43, [0.25-0.62]) and 17 (0.44, [0.21-0.66]), which was similar for males and females. CONCLUSION: Results indicate a bidirectional association between emotional symptoms and school exclusion and truancy, as an increase in these symptoms was associated with later truancy and exclusion, and emotional symptoms increased following both school events. For conduct problems, the association was bidirectional for school exclusion, but unidirectional for truancy as these symptoms did not lead to truancy, but an increase in conduct problems was observed after both exclusion and truancy.

The role of context in verbal humor processing in autism.

Difficulties in processing humor have been associated with individuals with autism. The current study investigated whether humor comprehension and appreciation could be augmented in children with autism by providing contextual support suggesting that humor was to be expected. A verbally presented riddle task was used in which participants were assessed for their subjective ratings and comprehension of the materials. They were also filmed to record any smiling or laughing. Both riddles and control stimuli were presented with supporting verbal context and also without it. The results showed that (a) the greater subjective appreciation of riddles than of control stimuli was dependent on the provision of context for the participants with autism and that (b) context statistically equated these ratings of riddles between participants with autism and matched typically developing controls. However, context had no effect on comprehension or affective response. The results of the current study demonstrate that children with autism are, even in the most conservative interpretation, able to use verbal context to recognize verbal humor. This lays the foundation of possible interventions based on training sensitivity to context.

The development of children's comprehension and appreciation of riddles.

Humor appreciation and understanding is important for children's social relationships. The current study examined the associations among riddle comprehension, riddle appreciation, and smiling/laughter in children from a wide age range (4-11 years) as well as how cognitive processing style relates to riddle comprehension. Style was distinguished between local and global language processing at the sentence level. The results showed that only children age 8 years or older showed a reliable relationship between humor comprehension and smiling/laughter. These findings show that laughter should not be taken as an automatic indicator of explicit understanding. In addition, higher vocabulary ability was independently associated with better humor comprehension. This demonstrates a separable role of language proficiency in humor comprehension and suggests avenues for future research in atypical populations known to have difficulties in this area.

The foundations of mathematical development in Williams syndrome and Down syndrome.

BACKGROUND: Studies in Down syndrome (DS) and Williams syndrome (WS) have suggested that mathematical abilities are impaired. However, it is unclear which domain-general or domain-specific abilities impact on mathematical development in these developmental disorders. METHOD: The current study examined the foundations of mathematical development across participants with WS (n = 24) and DS (n = 26) compared to typically developing (TD) children (n = 26) in relation to domain-general (i.e., general intelligence and visuospatial abilities) and domain-specific abilities (non-symbolic and symbolic number abilities). RESULTS: Developmental trajectories showed that mathematical abilities were delayed in line with overall mental age in DS and WS. Whilst visuospatial abilities predicted performance for DS and TD participants, this was not the case for the WS group, instead Approximate Number Sense abilities predicted mathematical development. CONCLUSIONS: These findings suggest that those with DS and WS may benefit from different mathematical intervention programmes.

Comparing parental stress of children with neurodevelopmental disorders: The case of Williams syndrome, Down syndrome and autism spectrum disorders.

BACKGROUND: Although parental stress is higher for children with neurodevelopmental disorders (NDs), it is unclear how this stress compares to more common NDs. The current study compared stress in parents of children with Williams syndrome (WS), Down syndrome (DS) and autism spectrum disorders (ASD). The impact of individual and contextual factors was also explored. METHOD: Parents of children with WS (n = 107), DS (n = 79) and ASD (n = 79) completed a background questionnaire, a parental stress questionnaire and a satisfaction with life questionnaire. RESULTS: Although all groups displayed similar levels of parental stress, the factors that influenced this stress differed between the groups. There were also differences for life satisfaction and relationships between parental stress and individual and contextual factors. CONCLUSIONS: Although parents of children with NDs are not at an increased risk of parental stress, the results suggest that interventions should be syndrome-specific.

Genetic and environmental vulnerabilities in children with neurodevelopmental disorders.

One might expect that children with varying genetic mutations or children raised in low socioeconomic status environments would display different deficits. Although this expectation may hold for phenotypic outcomes in older children and adults, cross-syndrome comparisons in infancy reveal many common neural and sociocognitive deficits. The challenge is to track dynamic trajectories over developmental time rather than focus on end states like in adult neuropsychological studies. We contrast the developmental and adult approaches with examples from the cognitive and social domains, and we conclude that static models of adult brain lesions cannot be used to account for the dynamics of change in genetic and environmentally induced disorders in children.

Neuromyths: Misconceptions about neurodevelopment by Italian teachers.

BACKGROUND: Neuromyths are commonly held misconceptions about the brain, often generated by a misunderstanding of scientifically established facts. To date, limited research has explored the pervalence of neuromyths about neurodevelopmental disorders in the teacher population. METHOD: The current study investigated the prevalence of teachers' general and neurodevelopmental neuromyths among 820 Italian teachers. RESULTS: Italian teachers correctly identified 73% of general neuromyths and 70% of neurodevelopmental neuromyths. The difference between general and neurodevelopmental neuromyths endorsement was significant. Frequency of accessing relevant information emerged as a protective factor. A mediation analysis showed that higher need for cognition was significantly associated with a higher frequency of accessing relevant information about the brain, which in turn led to lower endorsement of neuromyths. CONCLUSION: In line with our findings, we suggest that teachers can benefit from neuroeducation initiatives aimed to enhance neuroscience literacy in both the initial education and continuous professional development of teachers.

Neuromyths about neurodevelopmental disorders in Chilean teachers.

Misconceptions about how the brain works (neuromyths) are shown to be common among educators, but little is known about neurodevelopmental disorders (NDDs) neuromyths. Here, we explored the prevalence of both general and neurodevelopmental disorders neuromyths in Chilean teachers and other educational professionals. One hundred forty-four participants answered an online neuroscience knowledge, interest, and training questionnaire. Regression analysis showed that both teachers and non-teachers endorsed more neuromyths related to NDDs compared to general neuromyths and that familiarity with the NDDs but not necessarily neuroscience training or interest plays an important role in the endorsement of these neuromyths. The findings indicate that dyscalculia is the least known neurodevelopmental disorder. Although inclusion politics demand training for all educational actors, the current findings suggest effective translational efforts between neuroscience and education fields should continue.

Anxiety, concerns and emotion regulation in individuals with Williams syndrome and Down syndrome during the COVID-19 outbreak: a global study.

Individuals with neurodevelopmental conditions (NDCs) have been reported to experience increased levels of anxiety during the COVID-19 pandemic. In our study, we document how individuals with Down Syndrome (DS; N = 557; Mage = 16.52; 233 female) and Williams syndrome (WS, N = 247; Mage = 18.43; 113 female) experienced the first wave (April 2020-May 2020) of the COVID-19 pandemic across the world. Using multilevel linear mixed regressions, we studied (a) parental reported anxiety of individuals with DS and WS, (b) these individuals' specific concerns, and (c) their use and efficacy of emotion regulation (ER) strategies during the first wave of COVID-19. Predictors of anxiety, such as the age of the individual with NDC, type of condition, and time, were investigated. Individuals with WS experienced higher levels of anxiety compared to those with DS and the older the individuals with NDC were the more anxiety they experienced. In terms of concerns, group effects indicated that individuals with WS scored higher for most of the concerns. There were no gender differences in concerns, yet most of the concerns increased with age except for concerns about loss of routine, boredom, loss of institutional support and family conflict. Finally, significant group effects were found and indicated a more frequent use of a variety of adaptive and maladaptive ER strategies in individuals with WS. We did not identify group differences in the efficacy of ER strategies. Our results indicate that individuals with WS are likely to exhibit higher levels of anxiety, but also higher levels of concerns depending on their age. Similarly, individuals with WS use a variety of ER strategies more frequently but these strategies are not necessarily more efficient for them. We discuss the impact of these findings in relation to anxiety identification and support across individuals with NDCs.

"Not in the mood": The fear of being laughed at is better predicted by humor temperament traits than diagnosis in neurodevelopmental conditions.

BACKGROUND: Research has shown that autistic individuals seem to be more prone to develop gelotophobia (i.e., the fear of being laughed at) than typically developing individuals. The goals of the present study were to discover whether the high levels of gelotophobia found in autism in previous studies were replicated here, to expand the research to Down syndrome (DS) and Williams syndrome (WS), and to assess the relation between individual differences and social impairments, affective predispositions, and humor temperament. METHODS: Questionnaires were distributed to parents of autistic individuals (N = 48), individuals with DS (N = 139), and individuals with WS (N = 43) aged between 5 and 25 years old. RESULTS: Autistic individuals were shown to frequently experience at least a slight level of gelotophobia (45%), compared to only 6% of individuals with DS and 7% of individuals with WS. Interestingly, humorless temperament traits (i.e., seriousness and bad mood) manifested as the strongest predictors of gelotophobia. This relation even transcended group differences. CONCLUSION: The results confirm that gelotophobia seems to be particularly concerning for autistic individuals, whereas individuals with DS and WS seem to be more protected from developing such a fear. Moreover, it appears that gelotophobia seems to be more linked to high seriousness and irritability than diagnosis.

Efficacy of coping mechanisms used during COVID-19 as reported by parents of children with autism.

The COVID-19 pandemic's alterations to daily life have been especially challenging for families with Autism Spectrum Disorder (ASD), worsening the core features of ASD and overall mental health. With the increased need for effective coping, the current retrospective study used data from a survey regarding parent reports of how often their child with ASD used certain coping strategies (frequency), as well as the extent to which they felt their child benefitted from their use (efficacy) in mitigating stress during the pandemic. This retrospective study Repeated measures ANOVAs were conducted to evaluate whether there were significant differences in both frequency and efficacy ratings for each coping strategy, for the entire sample as well as for three children's age groups. Using Spearman's rank-order correlations, correlation coefficients between the frequency and efficacy of each coping strategy were explored. Results revealed that maladaptive strategies were used more frequently than adaptive strategies, while parent routine as the most frequently used and efficacious for all age groups. Additionally, for adaptive strategies, humor and focusing on the positive had the strongest correlations between frequency and efficacy ratings amongst all age groups. Of the maladaptive strategies, repetitive behaviors, rumination, and isolation had the strongest correlations for the youngest, middle, and oldest age groups, respectively. Further, for each age group, the adaptive coping strategies had stronger correlations between frequency and efficacy than the maladaptive ones. It is our hope that the results of this study will lay the foundation for developing adaptive coping strategies to alleviate stress in children with ASD. Further investigations using a larger cohort are warranted to determine effective coping strategies for individuals with ASD across a range of situations, including acute stressors (such as future public health emergencies and natural disasters), as well as common daily stressors.

Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions.

Background: The COVID-19 pandemic had a major impact on the mental health and well-being of children with neurodevelopmental conditions (NDCs) and of their families worldwide. However, there is insufficient evidence to understand how different factors (e.g., individual, family, country, children) have impacted on anxiety levels of families and their children with NDCs developed over time. Methods: We used data from a global survey assessing the experience of 8043 families and their children with NDCs (mean of age (m) = 13.18 years, 37% female) and their typically developing siblings (m = 12.9 years, 45% female) in combination with data from the European Centre for Disease Prevention and Control, the University of Oxford, and the Central Intelligence Agency (CIA) World Factbook, to create a multilevel data set. Using stepwise multilevel modelling, we generated child-, family- and country-related factors that may have contributed to the anxiety levels of children with NDCs, their siblings if they had any, and their parents. All data were reported by parents. Results: Our results suggest that parental anxiety was best explained by family-related factors such as concerns about COVID-19 and illness. Children's anxiety was best explained by child-related factors such as children's concerns about loss of routine, family conflict, and safety in general, as well as concerns about COVID-19. In addition, anxiety levels were linked to the presence of pre-existing anxiety conditions for both children with NDCs and their parents. Conclusions: The present study shows that across the globe there was a raise in anxiety levels for both parents and their children with NDCs because of COVID-19 and that country-level factors had little or no impact on explaining differences in this increase, once family and child factors were considered. Our findings also highlight that certain groups of children with NDCs were at higher risk for anxiety than others and had specific concerns. Together, these results show that anxiety of families and their children with NDCs during the COVID-19 pandemic were predicted by very specific concerns and worries which inform the development of future toolkits and policy. Future studies should investigate how country factors can play a protective role during future crises.

How useful are landmarks when learning a route in a virtual environment? Evidence from typical development and Williams syndrome.

The ability to learn a route through a virtual environment was assessed in 19 older children and adults with Williams syndrome (WS) and 40 typically developing (TD) children aged 6-9 years. In addition to comparing route-learning ability across groups, we were interested in whether participants show an adult-like differentiation between "useful" and "less useful" landmarks when learning a route and the relative salience of landmark position versus landmark identity. Each virtual environment consisted of a brick wall maze with six junctions. There were 16 landmarks in the maze, half of which were on the correct path and half on incorrect paths. Results showed that both groups could learn each route to criterion (two successful completions of a route without error). During the learning phase, the WS group produced more errors than the TD group and took longer to reach criterion. This was predominantly due to the large number of perseverative errors (i.e., errors that were made at the same choice point on consecutive learning trials) made by the WS group relative to the TD children. We suggest that this reflects a difficulty in inhibiting erroneous responses in WS. During the test phase, the TD group showed stronger recall of landmarks adjacent to junctions (more useful landmarks) than of landmarks along path sections (less useful landmarks) independent of each individual's level of nonverbal ability. This pattern was also evident in the WS group but was related to level of nonverbal maturation; the differentiation between recall of junction and path landmarks increased as nonverbal ability increased across WS participants. Overall, the results demonstrate that individuals with WS can learn a route but that the development of this ability is atypical.

Sensory Processing in Williams Syndrome: Individual differences and changes over time.

This study examined individual differences as well as the development of sensory processing difficulties in children with Williams syndrome (WS) using a cross-sectional (Experiment 1) and longitudinal design (Experiment 2). In Experiment 1, a clustering approach of sensory processing scores suggested two groups. Experiment 2 showed that the clusters identified in Experiment 1 were not stable across development, especially for those with high sensory impairments at either time point. Yet, most children experienced high impairments in sensory registration at both time points, suggesting impaired registration is a core phenotype of sensory processing in children with WS across development. Possible mechanisms, limitations and implications are discussed.

Block Design Performance in Williams Syndrome: Visuospatial Abilities or Task Approach Skills?

The block design task (BDT) is a visuospatial measure that individuals with Williams syndrome (WS) perform poorly on. However, it is unclear what underlies their impaired performance. This study investigated whether poorer performance is a result of visuospatial difficulties, executive function (EF) difficulties, atypical looking strategies, or a combination of these. Eleven individuals with WS participated alongside mental age (MA)- and chronological age (CA)-matched control groups. Eye movements were recorded while they took the BDT. Dwell times and visits to areas of interest in WS differed from CA, but not MA, groups. Findings suggest that BDT abilities of individuals with WS are delayed, but not atypical. Delays result from visuospatial and attention-switching difficulties rather than atypical looking strategies.

All views my own? Portraying the voices of children with complex neurodevelopmental disorders in statutory documents.

Portraying the voices of children with complex genetic neurodevelopmental disorders about their health, care and education needs in their statutory documents is a challenging task. This study examined the ways by which the perspectives of children diagnosed with Down Syndrome (DS) and Williams Syndrome (WS) are portrayed in their statutory documents, namely the Education Health and Care plans, in England. Using the International Classification of Functioning Disability and Health for Children and Youth, we analysed the content of Section A of the Education Health and Care plans of 52 children and young people with WS and DS, between 5 and 26 years of age. A minority of statutory documents (7.7 %) explicitly reported the children's voices, and many failed to document how the children's voices were accessed. Only a few specific or evidence-based tools to access their voices were reported. Most statutory documents portrayed parental rather than children's voices concerning aspects of their health, care, and education. This study highlights the need to establish the use of evidence-based tools for ascertaining the voices of children with complex neurodevelopmental disorders and including them in decision making about their health, care and education needs.

An exploratory study on emotion regulation strategy use in individuals with Williams syndrome, autism spectrum disorder and intellectual disability.

Background: Individuals with neurodevelopmental disorders often have atypical emotion profiles, but little is known about how they regulate their emotions. While several studies have examined emotion regulation strategy use in autism spectrum disorder (ASD), only a few have included individuals with intellectual disability (ID) or focused on specific syndromes such as Williams syndrome (WS). Methods: A parent-reported survey launched during the first months of the COVID-19 pandemic allowed to exploratorily study emotion regulation strategy use and its link to anxiety in individuals with ASD with (N=785) and without ID (N=596), WS (N=261), and Intellectual Disability not otherwise specified (N=649). Results: Using multilevel analyses, besides revealing specific group differences in emotion regulation strategy use, a variety of strategies (e.g., rumination, avoiding information, repetitive behaviors) were found to be linked to elevated levels of anxiety, while focusing on the positive was linked to lower anxiety levels in all groups. Moreover, only autistic people without ID used humor more frequently while experiencing lower anxiety levels. Conclusion: This study sheds light on an underexplored area of emotion regulation strategy use in different neurodevelopmental disorders. It also paves the way to further examine emotion regulation in more rigorous ways to better understand emotion regulation in different neurodevelopmental disorders as well as the impact on outcome measures such as anxiety. This exploratory study may help to develop and validate adequate measures to study a broad array of ER strategies used by individuals with neurodevelopmental disorders.

The impact of COVID-19 on individuals with ASD in the US: Parent perspectives on social and support concerns.

The COVID-19 pandemic's disruptions to daily routines and services have proven especially challenging for children with autism spectrum disorder (ASD) and their families. The current retrospective study aimed to determine the impact of the COVID-19 pandemic's social environmental changes on parental ratings of personal and child concerns about family conflict, opportunities for social interaction, and loss of institutional support (school and therapy services). Analyses of responses from families with ASD in the US determined differences in concerns across three time points which were measured simultaneously: prior to COVID-19, at the start of COVID-19, and at the time of survey completion. From our sample of 246 school-aged children, parents retrospectively reported significantly increasing levels of concern for both themselves and their children over time, with parents' personal concern levels rated consistently higher than their ratings of their child's level of concern. Concerns about loss of institutional support were higher for parents of children reported as having co-occurring intellectual disability. Further, parents of younger children also reported more concerns about loss of services, as well as more social concerns. For parent ratings of child concerns, children who were reportedly aware of COVID-19 were determined to have higher levels of social concerns and concerns about loss of institutional support. Meanwhile, the child's age and gender did not impact their parent ratings of child concerns. The increased level of parental and child-perceived concerns over the course of the pandemic suggests a need for improved service delivery and support for these families. The high levels of concerns observed in the current study provide support for the need to assess families' priorities and tailor services to best meet families' needs. This will potentially increase the quality of life of family members, and improve ASD services across the lifespan, and improve outcomes.

Variability and standardized test profiles in typically developing children and children with Williams Syndrome.

Williams Syndrome (WS) is a developmental disorder, which due to its specific cognitive profile, has been of interest to multidisciplinary research in order to study the pathways between cognition, brain, and genes. Previous studies investigating individual performance on cognitive tasks have reported large variability within the WS cognitive profile, which has encouraged the investigation of WS subgroups. The current study compared the variability in performance scores on five verbal and non-verbal standardized tests in 33 children with WS and in 33 typically developing (TD) children of a similar chronological age (CA). In contrast to previous studies, the current study did not find significant differences in variability in performance on British Picture Vocabulary scale, Test Reception of Grammar and Digit span Forward between WS and TD groups when CA was controlled for. However, there was significantly less variability in younger WS participants for performance scores on Pattern Construction compared to the TD group. In light of these results, methodological issues and the importance of taking CA into account in analyses will be discussed.