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BackgroundCo-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.MethodsParents 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.ResultsSleep 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.ConclusionsHigher 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.

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.

Background: Self‐determination refers to setting goals and making decisions regarding one's own life with support from others as needed. Research on people with intellectual and developmental disabilities has established the importance of self‐determination for quality of life outcomes, such as increased independence and life satisfaction. However, self‐determination has not been characterised specifically in fragile X syndrome (FXS), the leading inherited cause of intellectual disability. Relative to youth with other forms of intellectual and developmental disabilities, youth with FXS may face exceptional barriers to the development of self‐determined behaviour. In addition to intellectual disability, the FXS behavioural profile is characterised by high rates of autism and anxiety that may further limit opportunities for youth with FXS. The heritable nature of the condition can also yield a distinctive family environment, with siblings and parents also living with fragile X or its associated conditions. Considering these unique challenges, the present study examined self‐determination in young adult males and females with FXS and explored whether factors such as language skills, adaptive behaviour and autism traits were associated with self‐determination capacity and opportunities. Methods: The present study included 9 females and 36 males with FXS between the ages of 17 and 25 years. Caregivers (mothers or fathers) completed the American Institute for Research Self‐Determination Assessment, which is a questionnaire that yields three scores: self‐determination capacity, opportunities for self‐determination at home and opportunities for self‐determination at school. Results: Caregivers endorsed a wide range of self‐determination capacity and opportunities, with ratings for opportunities at home and school exceeding ratings of capacity. Better adaptive behaviour skills were associated with more self‐determination capacity, and the presence of more autism traits was associated with fewer opportunities at school. Conclusions: Results from this study contribute to our understanding of avenues to best support young adults with FXS as they transition to adulthood. Our findings also have implications for practice, such that interventions targeting adaptive behaviours and self‐determination may be an effective approach for promoting autonomy and independence for young adults with FXS. Additionally, caregivers and educators should continue to provide opportunities to practise self‐determination, regardless of their perception of capacity. [ABSTRACT FROM AUTHOR]

Background: Adaptive behaviour refers to the practical skills necessary for independence and is considered a high‐priority intervention target for children with neurogenetic conditions associated with intellectual disability, like Down syndrome (DS). Daily living skills (DLS) are a critical aspect of adaptive behaviour, but they have received little intervention attention, possibly because they involve a wide variety of skills across many settings. The present study aimed to advance DLS intervention science by examining the concurrent and longitudinal association between DLS performances and a cognitive skillset hypothesised to support DLS skill acquisition, executive function (EF). Methods: Participants were 71 children with DS between the ages of 2.5 and 8.7 years (M = 5.23 years; standard deviation = 1.65) who completed a battery of adapted EF tasks and a primary caregiver who completed the Vineland Adaptive Behavior Scales 3rd Edition Parent/Caregiver Comprehensive Report Form. A subset of caregivers also provided 6‐ and 12‐month follow‐up adaptive behaviour information. Results: Results demonstrated a positive association between EF task performance and DLS standard scores and v‐scores both concurrently and longitudinally. Conclusions: The findings have implications for potential future intervention approaches that aim to strengthen DLS performances by advancing EF skills in this population. [ABSTRACT FROM AUTHOR]

BackgroundRepetitive 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.MethodParticipants 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.ResultsRestricted 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.ConclusionsThis study provides a preliminary description of repetitive behaviours in boys with FXS, which may form the groundwork for future research.

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. (Contains 3 tables and 3 figures.)

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.

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.

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.

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.

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). 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. 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. 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.

Mental retardation is typically associated with substantial delays in language. Researchers have been interested in the possible differences in the extent or nature of these delays across genetic syndromes, such as fragile X, Down, and Williams syndromes. This article addresses how genetic factors and environmental characteristics interact to produce specific language outcomes. We suggest that episodes of joint attention provide a means by which genetic anomalies can have indirect effects on some facets of language development. In doing so, we explain the nature of indirect effects and their influence on development; illustrate the link between joint attention and later language ability; discuss how joint attention may account for the characteristics associated with genetic syndromes, with special attention on fragile X syndrome; and consider implications for intervention. [ABSTRACT FROM AUTHOR]

This paper examines methodological challenges inherent in conducting research on families of children with autism and in comparing these families with others who are coping with different types of disabilities or who have nondisabled children. Although most comparative research has contrasted families whose child has autism with those whose child has Down syndrome, the range of comparison groups can be expanded to offer additional points of contrast and control. We discuss both matching and statistical control procedures and point to next steps in this line of comparative autism family research. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and the most common monogenic cause of autism spectrum disorder. The full mutation of the Fragile X Messenger Ribonucleoprotein-1 gene, characterized by an expansion of CGG trinucleotide repeats (>200 CGG repeats), leads to fragile X syndrome. Currently, there are no targeted treatments available for fragile X syndrome. In a recent large multi-site trial, FXLEARN, the effects of the mGluR5 negative allosteric modulator, AFQ056 (mavoglurant), were investigated, but did not show a significant impact of AFQ056 on language development in children with fragile X syndrome aged 3-6 years., Objectives: The current analyses from biospecimens collected in the FXLEARN study aimed to determine whether AFQ056 affects the level of potential biomarkers associated with Akt/mTOR and matrix metalloproteinase 9 signaling in young individuals with fragile X syndrome. Previous research has indicated that these biomarkers play crucial roles in the pathophysiology of fragile X syndrome., Design: A double-blind placebo-controlled parallel-group flexible-dose forced titration design., Methods: Blood samples for biomarkers were collected during the FXLEARN at baseline and subsequent visits (1- and 8-month visits). Biomarker analyses included fragile X messenger ribonucleoprotein-1 genotyping by Southern blot and PCR approaches, fragile X messenger ribonucleoprotein-1 mRNA levels determined by PCR, matrix metalloproteinase 9 levels' detection using a magnetic bead panel, and targets of the Akt/mTOR signaling pathway with their phosphorylation levels detected., Results: This research revealed that administering AFQ056 does not affect the expression levels of the investigated blood biomarkers in young children with fragile X syndrome., Conclusion: Our findings of the lack of association between clinical improvement and biomarkers' levels in the treatment group are in line with the lack of benefit observed in the FXLEARN study. These findings indicate that AFQ056 does not provide benefits as assessed by primary or secondary endpoints., Registration: ClincalTrials.gov NCT02920892., Competing Interests: The author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: Dragana Protic has received funding from The Science Fund of the Republic of Serbia and the FRAXA Research Foundation for carrying out studies on Fragile X Syndrome. Flora Tassone has received funding from Zynerba and Azrieli Foundation for carrying out studies on Fragile X Syndrome. Elizabeth Berry-Kravis has received funding from Acadia, Biogen, BioMarin, Erydel, GeneTx/Ultragenyx, Ionis, Jaguar, Kisbee, Neuren, Neurogene, Orphazyme/Kempharm/Zevra, PTC Therapeutics, Roche, Taysha, Tetra/Shionogi, Yamo, Zynerba, and Mallinckrodt Pharmaceuticals, for consulting or on clinical trials in genetic neurological disorders, all funds directed to Rush University Medical Center. The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© The Author(s) 2024.)

Autism diagnosis in individuals with fragile X syndrome (FXS) or Down syndrome (DS) with co-occurring intellectual disability is complex since clinicians often must consider other co-occurring behavioral features. Understanding how best to assess the features of autism in individuals with these conditions is crucial. In this study, we consider the short-term and long-term psychometric consistency of the Autism Diagnostic Observation Schedule-2 (ADOS-2) calibrated comparison scores (CCSs) and ASD classifications in individuals with FXS or DS. 76 individuals with DS (39 males; M age  = 15.27) and 90 individuals with FXS (71 males; M age  = 14.52 years) completed an assessment battery (ADOS-2, abbreviated IQ assessment and semi-structured language sample) at three timepoints (initial visit, short-term stability visit, long-term stability visit). All CCSs were found to have short-and long-term consistency for both groups, with lowest reliability scores for the repetitive behaviors (RRB) CCSs. Decreased reliability of RRB CCSs was found in the DS group than the FXS group. Variable short- and long-term ASD classifications were observed in both groups, with significantly higher variability in the DS group. Across groups, participants with variable classifications had lower ADOS-2 CCSs and higher language scores than those with stable ASD classifications. In the FXS group, those with variable classifications earned higher cognitive scores than did participants with stable ASD classifications. These findings highlight the high incidence of autism symptomatology in individuals with DS or FXS and co-occurring intellectual disability, while elucidating the short- and long-term variability of symptom expression in the context of structured observational tasks such as the ADOS-2., (© 2024. The Author(s).)

Background: Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantial impact on daily functioning and quality of life. FXS is the most common cause of inherited intellectual disability (ID) and the most common monogenetic cause of ASD. Previous literature has shown that electrophysiological activity measured by electroencephalogram (EEG) during resting state is perturbated in FXS and ASD. However, whether electrophysiological profiles of participants with FXS and ASD are similar remains unclear. The aim of this study was to compare EEG alterations found in these two clinical populations presenting varying degrees of cognitive and behavioral impairments., Methods: Resting state EEG signal complexity, alpha peak frequency (APF) and power spectral density (PSD) were compared between 47 participants with FXS (aged between 5-20), 49 participants with ASD (aged between 6-17), and 52 neurotypical (NT) controls with a similar age distribution using MANCOVAs with age as covariate when appropriate. MANCOVAs controlling for age, when appropriate, and nonverbal intelligence quotient (NVIQ) score were subsequently performed to determine the impact of cognitive functioning on EEG alterations., Results: Our results showed that FXS participants manifested decreased signal complexity and APF compared to ASD participants and NT controls, as well as altered power in the theta, alpha and low gamma frequency bands. ASD participants showed exaggerated beta power compared to FXS participants and NT controls, as well as enhanced low and high gamma power compared to NT controls. However, ASD participants did not manifest altered signal complexity or APF. Furthermore, when controlling for NVIQ, results of decreased complexity in higher scales and lower APF in FXS participants compared to NT controls and ASD participants were not replicated., Conclusions: These findings suggest that signal complexity and APF might reflect cognitive functioning, while altered power in the low gamma frequency band might be associated with neurodevelopmental conditions, particularly FXS and ASD., (© 2024. Crown.)

Introduction: Metformin has been used as a targeted treatment to potentially improve cognition and slow the typical IQ decline that occurs during development among individuals with fragile X syndrome (FXS). In this follow-up study, we are following the trajectory of IQ and adaptive behavior changes over 1 to 3 years in individuals with FXS who are clinically treated with metformin in an open label trial., Method: Individuals with FXS ages 6 to 25 years (mean 13.15 ± 5.50) and nonverbal IQ mean 57.69 (±15.46) were treated for 1-3 years (1.88 ± 0.63). They all had a baseline IQ test using the Leiter-III non-verbal cognitive assessment and the Vineland-III adaptive behavior assessment before the start of metformin. Repeat Leiter-III and Vineland-III were completed after at least 1 year of metformin (500-1,000 mg/dose given twice a day)., Result: There were no significant changes in non-verbal IQ or in the adaptive behavior measurements at FDR < 0.05. The findings thus far indicate that both IQ and adaptive behavior are stable over time, and we did not see a significant decline in either measure., Conclusion: Overall, the small sample size and short follow-up duration limit the interpretation of the effects of metformin on cognitive development and adaptive functioning. There is individual variability but overall for the group there was no significant decline in IQ or adaptive behavior., Competing Interests: RH has received funding from Zynerba Pharmaceuticals and Tetra pharmaceuticals for treatment studies involving patients with FXS. FT has received funding from Zynerba Pharmaceuticals for a study in FXS. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The handling editor DP declared a past co-authorship with the authors MS-A, KK, FT, AS, DH, and RH., (Copyright © 2024 Seng, Montanaro, Biag, Salcedo-Arellano, Kim, Ponzini, Tassone, Schneider, Abbeduto, Thurman, Hessl, Bolduc, Jacquemont, Lippé and Hagerman.)

Despite having the same underlying genetic etiology, individuals with the same syndromic form of intellectual developmental disability (IDD) show a large degree of interindividual differences in cognition and IQ. Research indicates that up to 80% of the variation in IQ scores among individuals with syndromic IDDs is attributable to nongenetic effects, including social-environmental factors. In this narrative review, we summarize evidence of the influence that factors related to economic stability (focused on due to its prevalence in existing literature) have on IQ in individuals with syndromic IDDs. We also highlight the pathways through which economic stability is hypothesized to impact cognitive development and drive individual differences in IQ among individuals with syndromic IDDs. We also identify broader social-environmental factors (e.g., social determinants of health) that warrant consideration in future research, but that have not yet been explored in syndromic IDDs. We conclude by making recommendations to address the urgent need for further research into other salient factors associated with heterogeneity in IQ. These recommendations ultimately may shape individual- and community-level interventions and may inform systems-level public policy efforts to promote the cognitive development of and improve the lived experiences of individuals with syndromic IDDs., Competing Interests: None., (© The Author(s) 2024.)

Purpose: Past research shows that parentally responsive behavior toward the child positively influences language development in both neurotypical children and children with intellectual and developmental disabilities, including those with fragile X syndrome (FXS); however, most studies have focused exclusively on the mother-child relationship. The current study examined relationships between parent behavior (i.e., responsivity and behavior management) and child language performance in both mother-child and father-child interactions, as well as relationships between child characteristics and both parent behavior and child language., Method: Participants were 23 families of young boys with FXS between 3 and 7 years of age. Mothers and fathers independently completed questionnaires assessing child characteristics and separately engaged in 12-min play-based interactions with their child via telehealth. One parent also completed a comprehensive interview assessing child adaptive behavior. Video recordings of the parent-child interactions were transcribed and coded for parent and child behavior, and measures of parent and child language were obtained from the transcripts., Results: Mothers and fathers used similar rates of responsive behaviors during parent-child interactions, and parental responsivity was positively associated with some aspects of child language performance (i.e., talkativeness and lexical diversity). Parental behavior, however, was not associated with syntactic complexity. Older children and children with higher levels of adaptive behavior had parents who used higher rates of responsive behaviors. Fathers used higher rates of behavior management strategies compared to mothers, and this type of parent behavior was not associated with child language., Conclusion: Overall, this study provides evidence that interventions focused on increasing parental responsiveness would be beneficial for families of children with FXS and that these interventions should be delivered early given the association between responsivity and child age., Supplemental Material: https://doi.org/10.23641/asha.25229939.

This study explores sex-differences in (a) rates and profiles of autism symptoms as well as in (b) the contribution of intellectual quotient (IQ) to autism symptom presentation in Down syndrome (DS). Participants were 40 males and 38 females with DS, aged 6 to 23 years. Autism symptoms were rated through the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Results show no sex differences in the ADOS-2 Calibrated Severity Scores (CSS). However, only females with DS who are classified as DS-Only have higher scores on verbal IQ than those classified as DS + autism. Furthermore, associations between IQ and all CSSs are found for females, but not for males. Findings suggest that verbal cognition may play differential roles for females and males with DS., (© 2022. The Author(s).)

Background: Executive function (EF) skills are important treatment targets for people with Down syndrome (DS); however, few EF measures have been evaluated for use with young children in this population. Methods : The present study evaluated preliminary psychometric properties of a measure of the EF component of inhibition. Participants were 73 children with DS between 2.5 and 8.67 years old who completed an adapted ability to delay task using a desirable toy. Results : Across two separate trials, latencies to touch the toys were significantly correlated. Latencies increased overall with chronological and mental age, with caveats for the youngest and oldest participants. Conclusion : Findings suggest that an adapted prohibition task is an appropriate method of measuring inhibition for children with DS between 4 and 7 years old, though many children in this chronological age range are at early stages of acquiring this skill set., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

This study aimed to determine the association between severity of autism spectrum disorder (ASD) and cognitive, behavioral, and molecular measures in individuals with fragile X syndrome (FXS). Study inclusion criteria included individuals with FXS and (1) age 6-40 years, (2) full-scale IQ < 84, and (3) language ≥3-word phrases. ASD symptom severity was determined by Autism Diagnostic Observation Schedule-2 (ADOS-2). Other measures identified non-verbal IQ, adaptive skills, and aberrant behaviors. Molecular measures included blood FMR1 and CYFIP1 mRNA levels, FMRP and MMP9 levels. Analysis of variance (ANOVA) and Spearman's correlations were used to compare ASD severity groups. Data from 54 individuals was included with no/mild (N = 7), moderate (N = 18), and severe (N = 29) ASD. Individuals with high ASD severity had lower adaptive behavior scores (47.48 ± 17.49) than the no/mild group (69.00 ± 20.45, p = 0.0366); they also had more challenging behaviors, lethargy, and stereotypic behaviors. CYFIP1 mRNA expression levels positively correlated with the ADOS-2 comparison score(r 2  = 0.33, p = 0.0349), with no significant correlations with other molecular markers. In conclusion, autism symptom severity is associated with more adverse cognitive and adaptive skills and specific behaviors in FXS, whereas CYFIP1 mRNA expression levels may be a potential biomarker for severity of ASD in FXS., (© 2023 The Authors. International Journal of Developmental Neuroscience published by John Wiley & Sons Ltd on behalf of International Society for Developmental Neuroscience.)

Objectives: The cognitive and social benefits of bilingualism for children, including those with neurodevelopmental disabilities (NDDs), have been documented. The present study was designed to characterize and compare English and Spanish use in Hispanic families with and without NDDs residing in the U.S. as well as to understand parental perceptions of their child's bilingualism and of community and professional support., Methods: We conducted an online survey of 84 Spanish-speaking parents of 4- to 24-year-olds with ( n = 44) and without NDDs ( n = 40) who were born in and living in the U.S., Results: We found that bilingualism was a desired goal for 95% of our families. We also found, however, that 17.1% of parents of children with NDDs have raised them as monolinguals English-speakers, as they thought there were reasons for that, while all families from the NT group raised their children in both languages. In addition, nearly 40% of the NDD children only speak English, compared to a 5% in the NT group. Finally, parents of children with NDDs cite a lack of support for bilingualism in the community (47.6% do not feel supported, compared to a 7.9% in the NT group) and recommendation from professionals as major factors for not raising their children as bilingual., Conclusions: The results suggest a need to educate professionals from many disciplines about the benefits of bilingualism for children with NDDs and for implementation of inclusion policies that provide access to dual-language programs., Competing Interests: Conflict of Interest The authors declare no competing interests.