Characterising the social interaction style of autism in young adult males with fragile X syndrome.

BACKGROUND: The characterisation of autism in fragile X syndrome (FXS) has been a source of controversy due to the complexity of disentangling autism traits from common features of the FXS phenotype. Autism in FXS is significantly underdiagnosed in the community, which may be partly due to insufficient clinical description of the social interaction profile of autism within the FXS phenotype. In this study, we applied a classic framework for characterising social interaction styles in autism to a sample of young adult males with FXS and co-occurring autism to enhance understanding of how the social challenges associated with autism manifest within FXS. METHODS: Participants were 41 males (M age = 18 years) with FXS and co-occurring autism. Interaction samples were coded for expression of predominately 'active' (characterised by a desire to make social approaches) or 'passive' (characterised by lack of initiation of social approach towards others) interaction profiles. Differences in the expression of phenotypic features of FXS, including anxiety, attention-deficit/hyperactivity disorder, cognitive, adaptive and language impairments and autism symptom severity, were examined across those with passive and active interaction styles. RESULTS: Approximately half of the sample was classified as active and half as passive, demonstrating diversity in the social phenotype of autism associated with FXS. The two subtypes did not differ in autism severity, anxiety or attention-deficit/hyperactivity disorder symptoms or in cognitive, adaptive or language abilities. CONCLUSIONS: This study enhances understanding of FXS-associated autism by documenting phenotypic variability in the social interaction profile in this group, with active and passive social interaction styles represented. The two social interaction styles were not associated with differential expression of common phenotypic features of FXS, suggesting similar support needs.

Evaluating an adapted reverse categorisation task to assess cognitive flexibility in young children with Down syndrome.

BACKGROUND: Accurate measurement of cognitive skills is necessary to advance both developmental and intervention science for individuals with Down syndrome (DS). This study evaluated the feasibility, developmental sensitivity and preliminary reliability of a reverse categorisation measure designed to assess cognitive flexibility in young children with DS. METHODS: Seventy-two children with DS ages 2.5-8 years completed an adapted version of a reverse categorisation task. Twenty-eight of the participants were assessed again 2 weeks later for retest reliability. RESULTS: This adapted measure demonstrated adequate feasibility and developmental sensitivity, and preliminary evidence for test-retest reliability when administered to children with DS in this age range. CONCLUSIONS: This adapted reverse categorisation measure may be useful for future developmental and treatment studies that target early foundations of cognitive flexibility in young children with DS. Additional recommendations for use of this measure are discussed.

Latent profiles of autism symptoms in children and adolescents with Down syndrome.

BACKGROUND: Down syndrome (DS) is associated with elevated rates of autism spectrum disorder (ASD) and autism symptomatology. To better characterise heterogeneity in ASD symptomatology in DS, profiles of caregiver-reported ASD symptoms were modelled for children and adolescents with DS. METHODS: Participants (n = 125) were recruited through several multi-site research studies on cognition and language in DS. Using the Social Responsiveness Scale-2 (SRS-2; Constantino and Gruber 2012), two latent profile analyses (LPA) were performed, one on the broad composite scores of social communication and interaction and restricted interests and repetitive behaviour, and a second on the four social dimensions of social communication, social motivation, social awareness, and social cognition. RESULTS: A three-profile model was the best fit for both analyses, with each analysis yielding a low ASD symptom profile, an elevated or mixed ASD symptom profile and a high ASD symptom profile. Associations were observed between profile probability scores and IQ, the number of co-occurring biomedical conditions reported, sex, and SRS-2 form. CONCLUSIONS: Characterising heterogeneity in ASD symptom profiles can inform more personalised supports in this population, and implications for potential therapeutic approaches for individuals with DS are discussed.

Co-occurring medical and behavioural conditions in children with Down syndrome with or without ADHD symptom presentation.

BACKGROUND: Co-occurring attention deficit hyperactivity disorder (ADHD) is a challenge to characterise in the presence of other medical conditions commonly present in children with Down syndrome (DS). The current study examined differences among children with DS with or without ADHD symptomatology in terms of demographics, developmental level, co-occurring medical conditions, and parent and teacher ratings of behaviour and executive functioning. METHODS: Parents and teachers of 108 school-age children with DS provided ratings of ADHD symptoms, behaviour problems and executive functioning skills. Children with DS and ADHD symptom presentation, as identified by a scoring algorithm, were compared with those without ADHD symptom presentation on demographic characteristics, developmental level, co-occurring medical conditions and parent-report and teacher-report measures of behaviours and executive functioning. RESULTS: Sleep disorders, disruptive behaviour disorder, allergies and seizures were more common in children with DS and ADHD symptom presentation than in children without ADHD symptom presentation. After controlling for ADHD medication use, children with DS and ADHD symptom presentation had poorer performance than those without ADHD symptom presentation on parent behaviour ratings, teacher behaviour ratings and parent but not teacher ratings of executive functioning. No significant group differences in demographic characteristics or developmental level were identified. CONCLUSIONS: Higher rates of co-occurring medical conditions present in children with DS and ADHD symptom presentation support the need for thorough differential diagnoses. The different pattern of group differences between parent-report and teacher-report has implications for diagnostic practices across settings as well as for treatment.

Characterising repetitive behaviours in young boys with fragile X syndrome.

BACKGROUND: Repetitive behaviours are frequently observed in individuals with intellectual disability (ID). The present study examined the profile, inter-correlations and predictive correlates of repetitive behaviours in boys with fragile X syndrome (FXS), the leading inherited cause of ID. Specific child characteristics examined as predictors included anxiety, nonverbal cognition and autism social-affective symptomatology. METHOD: Participants were 39 boys with FXS (aged 6-10 years). Repetitive behaviours were measured using the Repetitive Behavior Scale - Revised (RBS-R) - a 43-item caregiver-report measure normed on individuals with ID. RESULTS: Restricted Interests and Sensory Motor behaviours were reported as most problematic for this sample of boys, whereas Self-injurious behaviours were less problematic. All subscales of the RBS-R were significantly inter-correlated. Nonverbal IQ was negatively related, whereas anxiety and social affective symptoms of autism spectrum disorder were positively related, to scores for Restricted Interests. Anxiety was also positively related to scores for Compulsive behaviours and Ritualistic Sameness behaviours. CONCLUSIONS: This study provides a preliminary description of repetitive behaviours in boys with FXS, which may form the groundwork for future research.

Language development in school-age girls with fragile X syndrome.

BACKGROUND: Girls with fragile X syndrome (FXS) have a wide range of cognitive and language abilities. The range of language outcomes experienced by girls with FXS, however, has been relatively unexplored. The purpose of this exploratory study was to examine receptive and expressive language, with a focus on vocabulary and syntax, in a group of school-age girls with FXS. METHOD: Twenty-one girls with FXS aged 7-15 years participated in the study. The girls completed a receptive vocabulary test, non-verbal IQ test and an expressive language sample. RESULTS: The mean IQ for this group of girls was at the cut-off for intellectual disability. Vocabulary was an area of strength relative to non-verbal cognition. Age and non-verbal IQ were significant predictors of vocabulary performance. CONCLUSIONS: The data suggest that a substantial portion of the sample would qualify for speech and language services. This study highlights the need for continued research in the area of language and cognitive development in girls with the full mutation of fragile X.

Expressive language in male adolescents with fragile X syndrome with and without comorbid autism.

BACKGROUND: Approximately one-quarter of individuals with fragile X syndrome (FXS) meet diagnostic criteria for autism; however, it is unclear whether individuals with comorbid FXS and autism are simply more severely affected than their peers with only FXS or whether they have qualitatively different profiles of behavioural impairments. To address this issue, variation in the FXS linguistic phenotype was examined in males with FXS with and without autism. The syndrome-specificity of the expressive language impairment of both groups of those with FXS was assessed in relation to Down syndrome. The extent to which different language sampling contexts affected expressive language in each diagnostic group was also examined. METHOD: Spontaneous language samples were collected from male adolescents with FXS without autism (n = 20), comorbid FXS and autism (n = 8), and Down syndrome (n = 16). Syntactic complexity (indexed by mean length of utterance), expressive vocabulary (indexed by lexical diversity), talkativeness, fluency and intelligibility were assessed in two contexts: conversation and narration. Groups were matched on non-verbal IQ, non-verbal mental age and chronological age to allow the assessment of relative strengths and weaknesses across language variables. RESULTS: Males with comorbid FXS and autism were less intelligible than males with only FXS; no other differences between these two groups were found. Participants' performance differed across contexts for syntactic complexity, lexical diversity, talkativeness and fluency. CONCLUSIONS: These findings contribute to existing research on the behavioural profiles of individuals with FXS or FXS with autism who have low cognitive abilities. Although individuals with comorbid FXS and autism may be, as a group, more impaired than those with only FXS, data from this small sample of males with comorbid FXS and autism with low IQs suggest that their relative strengths and weaknesses in spontaneous expressive language are largely comparable and not differentially affected by the context in which their talk occurs.

Gender differences in repetitive language in fragile X syndrome.

BACKGROUND: Verbal perseveration (i.e. excessive self-repetition) is a characteristic of male individuals with fragile X syndrome; however, little is known about its occurrence among females or its underlying causes. This project examined the relationship between perseveration and (1) gender, (2) cognitive and linguistic ability, and (3) language sampling context, among youth with fragile X syndrome. METHOD: Language transcripts were obtained from adolescent male (n = 16) and female participants (n = 8) with fragile X syndrome in two language contexts (i.e. narration and conversation) designed to elicit spontaneous language samples. Transcripts were coded for utterance-level repetition (i.e. repetition of words, phrases, dependent clauses or whole utterances), topic repetition and conversational device repetition (i.e. repetition of rote phrases or expressions). RESULTS: Male participants produced more conversational device repetition than did female participants. Gender differences in conversational device repetition were not explained by differences in non-verbal cognitive or expressive language ability. Context influenced the type of repetition observed; for example, more topic repetition occurred in conversation than in narration regardless of gender. CONCLUSIONS: The observed gender differences in conversational device repetition among adolescents with fragile X syndrome suggest that, relative to females, male participants may rely more heavily on rote phrases or expressions in their expressive language. Further, results suggest that this gender difference is not simply the result of the correlation between gender and cognitive or linguistic ability in fragile X syndrome; rather, gender may make an independent contribution to conversational device repetition. Repetition type also varied as a function of expressive language context, suggesting the importance of assessing language characteristics in multiple contexts.

Psychological well-being of mothers of youth with fragile X syndrome: syndrome specificity and within-syndrome variability.

BACKGROUND: Research on parental well-being has focused largely on Down syndrome and autism; however, fragile X syndrome is likely to pose different challenges for parents compared with these other diagnostic conditions. Moreover, there is considerable variability among youth with fragile X syndrome; for example, 25% to 33% of affected youth meet criteria for a co-morbid diagnosis of autism. It is likely that parents of youth with fragile X syndrome will experience different degrees and patterns of stress, depending on whether their offspring do or do not have a co-morbid diagnosis of autism. In the present study, we compared mothers of three groups of young males on measures of psychological well-being and stress: those with fragile X syndrome and a co-morbid diagnosis of autism; those with fragile X syndrome alone; and those with Down syndrome. METHOD: The sample consisted of mothers of adolescent and young adult males with fragile X syndrome and co-morbid autism (n=9), fragile X syndrome alone (n=19), and Down syndrome (n=19). We screened all youth for autism using the Autism Behavior Checklist, which was completed by mothers, fathers and teachers, and the youth who scored above the suggested cut-off were evaluated by a licensed psychologist to determine autism status. The three groups of youth did not differ in chronological age (16.4, 15.8 and 16.0 years, respectively) or non-verbal mental age (3.8, 3.9 and 3.8 years, respectively). Several self-report measures were completed by mothers. These measures assessed current mental health status (e.g. the Center for Epidemiological Studies Depression Scale), perceptions of their son's and family's functioning (e.g. the Positive Affect Index, which measures closeness felt by the mother to her son and also reciprocated closeness felt by the son towards the mother, as perceived by the mother), and approach to coping with their son's disability [e.g. the Multidimensional Coping Inventory (COPE), which measures emotion-focused and problem-solving focused coping]. RESULTS: The results suggest that fragile X syndrome creates more challenges to maternal psychological well-being than Down syndrome, and that the combination of fragile X syndrome and autism can be particularly challenging. Differences among groups, however, were manifested mainly as concerns about the affected son and about relationships within the family rather than as lower levels of mental health. Thus, mothers of sons with fragile X syndrome, regardless of the son's autism status, reported more pessimism about the son's future and more conflict within the family than mothers of sons with Down syndrome. Additionally, mothers of sons with fragile X syndrome and co-morbid autism reported lower levels of reciprocated closeness than the other two groups of mothers. CONCLUSION: We consider possible causes of these maternal differences, the implications for clinical practice, needs for future research, and the importance of understanding child and contextual factors as well as the dynamics leading to these differences.

Cognitive, language and social-cognitive skills of individuals with fragile X syndrome with and without autism.

BACKGROUND: It is not known whether those with co-morbid fragile X syndrome (FXS) and autism represent a distinct subtype of FXS; whether the especially severe cognitive delays seen in studies of young children with co-morbid FXS and autism compared with those with only FXS continue into adolescence and young adulthood; and whether autism in those with FXS is 'true autism', i.e. reflects the same underlying problems as idiopathic autism. METHOD: We compared the non-verbal IQ of adolescents and young adults with co-morbid FXS and autism (n = 10) with those with only FXS (n = 44). We then created a subsample of those with FXS only, matched on non-verbal IQ, mental age and gender (n = 21) to the subsample of those with co-morbid FXS and autism. We compared the two groups on measures of expressive language, receptive language (lexical, grammatical morphology and syntactic patterns), and a theory of mind task. RESULTS: Those with co-morbid FXS and autism had lower non-verbal IQs than those with only FXS. The participants with co-morbid FXS and autism did not perform as well as the cognitive ability- and gender-matched participants with only FXS on the three measures of receptive language or the theory of mind task; there were no differences on the expressive language measure. CONCLUSIONS: Our findings support the notion that those with co-morbid FXS and autism represent a distinct subtype of FXS, with more impairment in receptive language and theory of mind even when controlling for their lower non-verbal IQ relative to those with only FXS. The greater cognitive impairments observed in those with co-morbid FXS and autism continues into adolescence and young adulthood; and the autism seen in those with FXS appears to be the same as idiopathic autism.

Relationship between theory of mind and language ability in children and adolescents with intellectual disability.

BACKGROUND: The present study was designed to evaluate the validity of the false belief task as a measure of theory of mind development in individuals with intellectual disability (ID). In most if it variants, the false belief task is linguistically demanding. This raises the possibility that the finding that individuals with ID do poorly on it might reflect language difficulties rather than theory of mind difficulties. Complicating matters further, however, is the fact that there are theoretical reasons to suppose that there might be a relationship between some dimensions of language ability and theory of mind development in individuals with ID (as well as in other populations). METHOD: In the present study, children and adolescents with ID and typically developing (non-verbal) mental age matches completed a standard false belief task and several tasks designed to measure language ability. RESULTS: We reasoned that a pattern in which false belief performance was correlated with all measures of language ability would reflect an artefactual relationship, whereas a more highly circumscribed, theoretically sensible pattern of correlations that was similar across both groups would support the validity of the false belief task. CONCLUSIONS: The results indicated that for individuals with ID who have limited narrative language skills, those limitations contribute substantially to their failure on the false belief task. For individuals with ID who have more highly developed narrative language skills (about 40% of the sample tested), however, the false belief task may provide a valid measure of their progress towards acquiring an adequate theory of mind. This latter conclusion was suggested by the fact screening out individuals who failed to meet linguistic and cognitive prerequisites for dealing with the performance demands of the false belief task yielded non-significant correlations between false belief performance and the language measures for both the group with ID and the typically developing comparison group.

The linguistic and cognitive profile of Down syndrome: evidence from a comparison with fragile X syndrome.

In this paper, we report on the results of our research, which is designed to address two broad questions about the cognitive and linguistic profile of Down syndrome: (1) Which domains of functioning are especially impaired in individuals with Down syndrome? and (2) Which aspects of the language and cognitive profile of Down syndrome are syndrome specific? To address these questions, we focused on three dimensions of the Down syndrome profile--receptive language, expressive language, and theory of mind--and made comparisons to individuals with fragile X syndrome, which is an X-linked form of intellectual disability. We identified Down syndrome impairments on all three dimensions that were substantially greater than those seen in nonverbal cognition and that were not shared by individuals with fragile X syndrome. Clinical implications of these findings are considered.

Children's judgements about intentionally and unintentionally broken promises.

Astington (1988) found that seven- to nine-year-olds often fail to distinguish between promises and predictions when judging the utterances of characters in simple stories. Instead, these children attend only to the outcome of the story (i.e. whether the promised event occurred) when deciding whether a promise has been made and, to a lesser extent, when deciding whether the speaker is responsible for the outcome. The purpose of the present study was to examine whether seven- to nine-year-olds (a) vary their judgements of responsibility according to the reason that the promised action was not completed, and (b) recognize that an unfulfilled promise is a promise regardless of whether the speaker's failure is unavoidable or intentional. Seven-year-olds, nine-year-olds, and adults were asked to make promise and responsibility judgements for two story types: stories in which the promiser intentionally failed to fulfill his or her promise and stories in which an unforeseen event prevented the promiser from fulfilling the promise. Participants at all ages assigned responsibility correctly across both story types. In making promise judgements, however, the seven-year-olds' decisions about promises reflected a misguided attention to the outcome of a promise or the obstacle to its fulfillment. The nine-year-olds recognized that an unfulfilled promise is a promise but only when there was a clear reason for the speaker's failure to fulfill his or her obligation. We suggest that children consider only sincere promises to be instances of promising and make inferences about speaker sincerity by looking to external factors in the communicative context.

Theoretical perspectives on language and communication problems in mental retardation and developmental disabilities.

We argue that researchers interested in language and communication problems in mental retardation or any other developmental disorder should view such problems as emerging within the broader context of the behavioral profile, or phenotype, associated with a particular genetic condition. This will require understanding the direct and indirect effects of genes on the development of language and communication and thereby an understanding of the complex relations that exist between language and other dimensions of psychological and behavioral functioning as well as an understanding of the environments in which the developing person acts and is acted upon. We believe that the dominant model for understanding language and communication problems--the nativist approach, which emphasizes the child's innate capacity for acquiring language and characterizes language as consisting of a set of context-free deterministic rules that operate on abstract representations--is inconsistent with an emphasis on indirect genetic effects. We review recent evidence that undermines the nativist approach--evidence concerning the initial state of the language-learning child, the role of environmental input, the competence-performance distinction, and modularity. In place of nativism, we argue for Emergentism, which is a model in which language is seen to emerge from the interaction between the child's biological abilities to map statistical properties of the language input into a distributed representation and the characteristics of the language learning environment and for the purpose of engaging in real-time, meaningful language use.

Parental scaffolding of the discourse of children and adolescents with intellectual disability: the case of, referential expressions.

Individuals with intellectual disability find the process of establishing referents to be an especially challenging component of discourse. The present study was designed to examine whether these problems partly result from a failure of parents to appropriately scaffold the discourse participation of individuals with intellectual disability. Children and adolescents with intellectual disability and their parents participated in two dyadic non-face-to-face referential tasks which afforded parents an opportunity to scaffold their children's behaviour as speaker and as listener. Comparisons were made with parents and their typically developing children who completed the same tasks. It was found that the parents of individuals with intellectual disability scaffolded their children's discourse participation to the same extent, as effectively and in the same manner as the parents of the typically developing children. The former were also found to adjust their scaffolding according to their children's level of behavioural competence. In summary, there is no evidence that parents contribute to the referential problems of individuals with intellectual disability.

Understanding referential expressions in context: use of common ground by children and adolescents with mental retardation.

Listeners interpret utterances against the common ground, or network of presuppositions shared with the speaker. The first purpose of the study was to determine whether individuals with mental retardation use the major sources of common ground (i.e., physical copresence, linguistic copresence, and community membership) to resolve referential ambiguity. The second purpose was to determine whether they seek confirmation of their referent choices in accordance with the certainty of interpretation afforded by the common ground. The third purpose was to determine whether they signal noncomprehension when faced with ambiguity and common ground that is not informative. The final purpose was to evaluate the relationship between within-group variability in common ground use and measures of nonverbal cognition, receptive and expressive language, and social cognition. Participants were school-age individuals with mental retardation and typically developing children matched to them on nonverbal MA. Common ground use was examined in a role-playing task in which the participant responded to ambiguous utterances. Common ground was manipulated within participants. We determined whether referent selections were appropriate for the common ground, whether they were accompanied by confirmation requests, and whether noncomprehension was signaled. Both groups used all sources of common ground to resolve referential ambiguity at better than chance levels but were less successful in using community membership. Both groups also requested confirmation of their referent choices most often when the common ground was based on community membership. Both groups signaled noncomprehension when the common ground was not informative. Different aspects of common ground use were related to different predictors for the group with mental retardation.

Young children's understanding of promising: methodological considerations.

In her inceptive study of promising, Astington (1988) found that five-year-olds failed to distinguish promises from predictions when judging story characters' utterances. Instead, their responses were based on whether the promised event had actually occurred. There is reason to believe, however, that the children's poor performance was an artefact of Astington's procedures. We tested this possibility with 32 children (mean age 5;8: range 5;7-6;2) by including several variations of Astington's procedures, but found no effects on the pattern of results. This suggests that Astington's findings are an accurate reflection of the developmental course of knowledge about promising.

Preschoolers' communication during scripted interactions.

The communicative interactions of 15 dyads of four- to five-year-olds during pretend play involving routine, or scripted, events were investigated as a function of the children's knowledge of the scripts. Measures of the quantity and quality of interaction and the strategies that the children used to establish mutual knowledge (i.e. assess and adapt to their discourse partner's level of expertise), which is essential to good communication, were examined. Each dyad participated in a MATCHED condition (both members had extensive knowledge of the script) and a MISMATCHED condition (one member had extensive script knowledge and the other did not). Shared script knowledge facilitated communicative interactions, as indicated by more topic maintenance and fewer requests for clarification in the matched condition than in the mismatched condition. The children attempted to establish mutual knowledge more frequently in the mismatched condition than in the matched condition and, moreover, mutual knowledge establishment was related to the children's communicative effectiveness.

Signaling of noncomprehension by children and adolescents with mental retardation: effects of problem type and speaker identity.

Previous research has demonstrated considerable within-individual and within-group variability in the signaling of noncomprehension by persons with mental retardation. The first purpose of this study was to determine whether within-individual variability in such signaling was related to differences in the nature of the inadequate message and the identity of the speaker. The second purpose was to evaluate the relationship between within-group variability in noncomprehension signaling and measures of cognition, receptive and excessive language ability, speech intelligibility, and social cognition. Participants were school-age individuals with mild mental retardation and typically developing children matched to them on nonverbal MA. Noncomprehension signaling was examined in a direction-following task in which inadequate message type and speaker were manipulated. It was found that message type, but not speaker, influenced noncomprehension signaling, with no difference between the two groups. We also found that performance on a test of receptive language ability was the best predictor of noncomprehension signaling for persons with mental retardation.

Effects of sampling context on the expressive language of children and adolescents with mental retardation.

This study was designed to determine whether conversational samples of language should be supplemented with samples obtained in narrative, or storytelling, contexts when evaluating the expressive language skills of individuals with mental retardation. Language samples were elicited in both conversational and narrative contexts from 16 school-age individuals with mental retardation and 16 typically developing children matched to them on MA. An analysis of the samples demonstrated that both groups produced more syntactically complex language in narration than in conversation, whereas they were more talkative in conversation than in narration. These results suggest that conversational and narrative contexts should be used together when evaluating the expressive language performance of individuals with mental retardation.