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Background: 3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric phenotypes. Mild to moderate intellectual disability (ID) is common in this population, and previous work by our team identified substantial deficits in adaptive behaviour. However, the full profile of adaptive function in 3q29del has not been described nor has it been compared with other genomic syndromes associated with elevated risk for neurodevelopmental and neuropsychiatric phenotypes., Methods: Individuals with 3q29del (n = 32, 62.5% male) were evaluated using the Vineland Adaptive Behaviour Scales, Third Edition, Comprehensive Parent/Caregiver Form (Vineland-3). We explored the relationship between adaptive behaviour and cognitive function, executive function, and neurodevelopmental and neuropsychiatric comorbidities in our 3q29del study sample, and we compared subjects with 3q29del with published data on fragile X syndrome, 22q11.2 deletion syndrome and 16p11.2 deletion and duplication syndromes., Results: Individuals with 3q29del had global deficits in adaptive behaviour that were not driven by specific weaknesses in any given domain. Individual neurodevelopmental and neuropsychiatric diagnoses had a small effect on adaptive behaviour, and the cumulative number of comorbid diagnoses was significantly negatively associated with Vineland-3 performance. Both cognitive ability and executive function were significantly associated with adaptive behaviour, and executive function was a better predictor of Vineland-3 performance than cognitive ability. Finally, the severity of adaptive behaviour deficits in 3q29del was distinct from previously published data on comparable genomic disorders., Conclusions: Individuals with 3q29del have significant deficits in adaptive behaviour, affecting all domains assessed by the Vineland-3. Executive function is a better predictor of adaptive behaviour than cognitive ability in this population and suggests that interventions targeting executive function may be an effective therapeutic strategy., (© 2023 The Authors. Journal of Intellectual Disability Research published by MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.)

The prevalence rate of mathematical learning disabilities (MLD) among children with fragile X syndrome who do not meet criteria for intellectual and developmental disabilities (approximately 50% of female children) exceeds the rate reported in the general population. The purpose of this article is two-fold: (1) to review the findings on MLD in persons with fragile X syndrome; and (2) to discuss fragile X syndrome as a possible model for understanding pathways to MLD.

The present study focuses on math and related skills among 32 girls with fragile X (n = 14) or Turner (n = 18) syndrome during late elementary school. Performance in each syndrome group was assessed relative to Full Scale IQ-matched comparison groups of girls from the general population (n = 32 and n = 89 for fragile X syndrome and Turner syndrome, respectively). Differences between girls with fragile X and their comparison group emerged on untimed arithmetic calculations, mastery of counting skills, and arithmetic problem verification accuracy. Relative to girls in the comparison group, girls with Turner syndrome did not differ on untimed arithmetic calculations or problem verification accuracy, but they had limited mastery of counting skills and longer response times to complete the problem verification task. Girls with fragile X or Turner syndrome also differed from their respective comparison groups on math-related abilities, including visual-spatial, working memory, and reading skills, and the associations between math and those related skills. Together, these findings support the notion that difficulty with math and related skills among girls with fragile X or Turner syndrome continues into late elementary school and that the profile of math and related skill difficulty distinguishes the two syndrome groups from each other.

Mathematical learning disabilities (MLD) have been reported for elementary school age girls with fragile X syndrome who do not have mental retardation. Yet girls with fragile X demonstrate age-appropriate rote math skills, sometimes outperforming other children with MLD. We examined whether MLD and strengths in rote math skills persist during middle school among girls with fragile X. Middle school children were individually administered the Ranking Proportions Task (RPT), which involves fractions and decimals. Such problems, although difficult for many students, yield different performance profiles between children with versus without MLD. We hypothesized that girls with fragile X would outperform children with MLD on rote skills (e.g., naming decimals) despite conceptual difficulties, regardless of effects of FSIQ. To address the influence of fragile X versus MLD or FSIQ, several comparison groups were included. Children from a normative sample outperformed girls with fragile X on conceptual, but not rote, skills. However, their performance resembled that of children with MLD on conceptual skills, such as identifying equal quantities with different symbols (e.g., 0.5 and 1/2). Fragile X syndrome provides a compelling model of the heterogeneity of MLD, as the associated profile resembles that of both children with or without MLD. In terms of applications to serving girls with fragile X, it is important to consider that efficient rote skills may not only fail to enhance math achievement, they may hinder achievement by masking underlying conceptual deficiencies.

The present study was carried out to examine physiological arousal modulation (heart activity and skin conductance, across baseline and cognitive tasks, in females with fragile X or Turner syndrome and a comparison group of females with neither syndrome. Relative to the comparison group, for whom a greater increase in skin conductance was associated with poor arithmetic performance and less risk taking behavior, females with fragile X displayed a minimal increase in heart activity that was nevertheless associated with poor performance on mental arithmetic. In contrast, no arousal-cognitive performance relationship emerged for the group with Turner syndrome. Taken together, our findings suggest that distinct profiles of arousal modulation might be associated with cognitive deficits in these syndrome populations.

The voluntary and reflexive orienting abilities of persons with Down syndrome and fragile X syndrome, at average MA levels of approximately 4 and 7 years, were compared with an RT task. Reflexive orienting abilities appeared to develop in accordance with MA for the participants with Down syndrome but not for those with fragile X syndrome. However, both groups showed delayed voluntary orienting. The group differences in reflexive orienting at the low MA level reinforce the practice of separating etiologies and highlight the contribution of rudimentary attentional processes in the study of individuals with mental retardation.

The influence of social and information-processing demands on eye-gaze avoidance in individuals with fragile X syndrome, Down syndrome, or typical development were examined by manipulating those demands in a structured-language task. Participants with fragile X syndrome exhibited more gaze avoidance than did those in the comparison groups, but no group differences in avoidance were found between a social and nonsocial condition. Task difficulty affected gaze avoidance in the nonsocial but not in the social condition. In the nonsocial condition, the effect of task difficulty was less pronounced for the fragile X syndrome than comparison groups. Findings suggest that multimodal task demands rather than eye contact per se contribute to gaze avoidance in persons with 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.

Two studies were carried out to examine the persistence (Study 1) and characteristics (Study 2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during the primary school years (ages 5-9 years). In Study 1, the rate of MLD for each syndrome group exceeded the rate observed in a grade-matched comparison group, although the likelihood of MLD persisting through the primary school years was comparable for all three groups. In Study 2, formal and informal math skills were compared across the syndrome groups, a normative group, and children from the normative group who had MLD. Few differences were observed between the Turner syndrome and normative groups. Despite having rote counting and number representation skills comparable to those in the normative group, girls with fragile X had difficulty with counting rules (e.g., cardinality, number constancy). However, this difficulty did not distingush them from the MLD group. Overall, counting skills appear to distinguish the Turner syndrome and fragile X groups, suggesting that the specificity of math deficits emerges earlier for fragile X than Turner syndrome.

Referential communication was examined in youth with Down syndrome or fragile X syndrome in comparison to each other and to MA-matched typically developing children. A non-face-to-face task was used in which the participant repeatedly described novel shapes to listeners. Several dimensions of referential communication were especially challenging for the syndrome groups (i.e., they displayed below-MA performance), although there were differences in the dimensions that each syndrome group found to be most challenging. Independently assessed expressive language ability contributed to variations in referential performance, especially for participants with Down syndrome.

The psychological well-being of mothers raising a child with a developmental disability varies with the nature of the disability. Most research, however, has been focused on Down syndrome and autism. We added mothers whose adolescent or young adult son or daughter has fragile X syndrome. The sample was comprised of mothers of a child with fragile X syndrome (n = 22), Down syndrome (n = 39), or autism (n = 174). Mothers of individuals with fragile X syndrome displayed lower levels of well-being than those of individuals with Down syndrome, but higher levels than mothers of individuals with autism, although group differences varied somewhat across different dimensions of well-being. The most consistent predictor of maternal outcomes was the adolescent or young adult's behavioral symptoms.

We investigated the receptive language of adolescents and young adults with Down syndrome (n = 25) or fragile X syndrome (n = 19). We were interested in syndrome differences and gender differences within fragile X. Comparison of the syndromes and MA-matched typically developing children (n = 24) revealed that individuals with the syndromes differed in relative achievements across the domains of receptive vocabulary, receptive syntax, and nonverbal cognition as well as in the organization of their linguistic knowledge. Comparison of males and females with fragile X revealed that each displayed synchronous development across the three domains, despite the fact that the receptive language levels of females surpassed that of males.