Language Skills Influence Transition Planning in Adolescents With Fragile X Syndrome.

Individuals with fragile X syndrome (FXS) and their parents have a range of experiences navigating the crucial transition period between adolescence and adulthood. Semistructured interviews of 47 mothers of adolescents with FXS (mean child age = 15.89 years) were analyzed to identify mothers' changing expectations during the adolescent period and parent goals related to work and postsecondary education. Mothers' work and education goals were explored in relation to child factors such as language skills and autism characteristics. Lower language skills were associated with lower likelihood of reporting vocational goals. Results suggest that adolescents with FXS with lower language ability are less likely to have vocational plans for adulthood during this critical period and may need greater transition planning assistance.

Transactional relationships between maternal requesting and responsivity, adolescent compliance, and task demands in fragile X syndrome.

BACKGROUND: Males with fragile X syndrome (FXS) may have difficulty with social communication and language in addition to behavioral concerns such as noncompliance to maternal requests. Mothers vary in how they pose requests to their children, and contextual demands may also be a factor in compliance. This study examined the relationships between maternal requesting behaviors, maternal responsivity, child compliance, and task demands in adolescent males with FXS. METHODS: 35 mother-son dyads completed three interactive tasks during in-home visits (puzzle, iPad games, snack). The adolescents also completed assessments of language and autism symptoms. The three interactive tasks were video-recorded, and behavior-by-behavior coding and transcription was completed. RESULTS: Comparing between tasks, mothers requested a behavior most often during the snack task and used a higher proportion of indirect requests during the iPad task. Adolescents were largely compliant across tasks, with average compliance equal to 70%. Adolescent compliance was predicted by maternal request frequency such that mothers who used more requests had adolescent sons who were less compliant. Maternal responsivity was higher for mothers of adolescents with FXS-only compared to those with FXS and high autism symptoms. CONCLUSIONS AND IMPLICATIONS: Task demands may have influenced maternal requesting, which in turn may have impacted adolescent compliance. Compliance with requests is important for both social and educational aspects of life, and further study of requesting and compliance in FXS is needed to identify effective teaching and behavioral intervention methods.

Sensorimotor and inhibitory control in aging FMR1 premutation carriers.

Aging FMR1 premutation carriers are at risk of developing neurodegenerative disorders, including fragile X-associated tremor/ataxia syndrome (FXTAS), and there is a need to identify biomarkers that can aid in identification and treatment of these disorders. While FXTAS is more common in males than females, females can develop the disease, and some evidence suggests that patterns of impairment may differ across sexes. Few studies include females with symptoms of FXTAS, and as a result, little information is available on key phenotypes for tracking disease risk and progression in female premutation carriers. Our aim was to examine quantitative motor and cognitive traits in aging premutation carriers. We administered oculomotor tests of visually guided/reactive saccades (motor) and antisaccades (cognitive control) in 22 premutation carriers (73% female) and 32 age- and sex-matched healthy controls. Neither reactive saccade latency nor accuracy differed between groups. FMR1 premutation carriers showed increased antisaccade latencies relative to controls, both when considering males and females together and when analyzing females separately. Reduced saccade accuracy and increased antisaccade latency each were associated with more severe clinically rated neuromotor impairments. Findings indicate that together male and female premutation carriers show a reduced ability to rapidly exert volitional control over prepotent responses and that quantitative differences in oculomotor behavior, including control of visually guided and antisaccades, may track with FXTAS - related degeneration in male and female premutation carriers.

Change in Behavior Problems from Childhood Through Adolescence for Children with Fragile X Syndrome.

In this study, we examined trajectories of specific domains of behavior problems (i.e., attention problems, depression/anxiety, and aggressive behavior) from age 6 to 18 in a sample of 55 children with fragile X syndrome. We also examined autism status and early parenting as predictors of subsequent behavioral trajectories. We found that attention problems and aggressive behavior declined steadily from childhood through adolescence whereas anxious/depressed behavior demonstrated relative stability over the same period. Youth with highly flexible mothers displayed more optional trajectories of improvement in attention problems.

Maternal well-being and family adaptation during COVID-19 in fragile X syndrome.

Mothers of children with fragile X syndrome are at increased risk of experiencing anxiety and depression due to potential genetic risk and to stress associated with parenting a child with significant behavioral, emotional, and educational support needs. During the initial shutdown and subsequent restrictions of the COVID-19 pandemic, mothers of children with fragile X reported experiencing elevated levels of anxiety and depression relative to their usual levels of well-being. Many indicated that the negative consequences of exposure to COVID-19 and related stressors, as well as the impacts of the pandemic on their family, directly affected their anxiety and depression. Mothers reported on specific sources of distress as well as potential sources of resilience and positive adaptation that occurred during the first year of the COVID-19 pandemic.

Examination of the ADOS-2 Expressive Language Score in Fragile X Syndrome.

The development of an expressive language score for people with autism based on the ADOS-2 was recently reported by Mazurek et al. (2019). The current study examined the construct validity of the ADOS-2 expressive language score (ELS) in a sample of adolescents with fragile X syndrome (n = 45, 10 girls), a neurodevelopmental disorder with high rates of autism symptomology. The ADOS-2 ELS showed strong convergent validity with multiple assessments of expressive language, receptive language, and nonverbal cognition. Divergent validity was demonstrated between the expressive language score and chronological age, symptoms of anxiety/depression, and rule-breaking behaviors. This expressive language score is a promising measure of expressive language ability that can be used in research when other language assessments are unavailable.

Rethinking Measurement Standards of Autism Symptomology in Adolescents with Fragile X Syndrome.

Accurate representation of autism spectrum disorder (ASD) in fragile X syndrome (FXS) is necessary for the field. We examined classifications of ASD using three approaches-Autism Diagnostic Observation Schedule (ADOS-2; Lord et al. 2012), Childhood Autism Rating Scale (CARS2-ST; Schopler et al. 2010), and Vineland Adaptive Behavior Scales (VABS-II; Sparrow et al. 2005)-in 45 adolescents with FXS. Maladaptive items from the VABS-II plus a maternal interview were matched with Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5; American Psychiatric Association 2013) criteria for ASD. Results indicated discrepant classifications. The ADOS-2 yielded the highest rate of comorbid autism (71%); CARS2-ST and VABS-II/DSM-5 yielded lower rates (38% and 42%, respectively). A singular measure of autism symptomology is insufficient to characterize autism in FXS.

Developmental Trajectory of Communication Repair in Children with Fragile X Syndrome.

BACKGROUND & AIMS: The development of communicative competence requires both language and social skills. The ability to repair following a communication breakdown is critical for continued conversational interchange and to ensure comprehension of bids for communication. Repair demonstrates adequate language and social skills. Children with Fragile X Syndrome (FXS) have difficulty with language development and social skills, which may result in delays or deficits in repair. Repair may be additionally impaired in children with FXS and co-morbid autism. This study examined the development of repair in children with FXS from toddlerhood into middle childhood. METHODS: Fifty-five children with FXS and their biological mothers participated. Data were collected during in-home visits approximately every 18 months. Videotaped mother-child interactions were collected, as well as standardized assessments of language, social skills, and autism symptomology. RESULTS: Children with FXS acquired the ability to repair at 90% mastery by three-and-a-half years of age. Multilevel logistic regressions predicting probability of repair indicated marginally significant effects of mean length of utterance and number of different words, and significant effects of global social skills and autism symptomology. Effect sizes were small to moderate. CONCLUSIONS: Ability to repair was measured in a naturalistic setting, which allowed children with FXS to utilize repairs in their daily interactions. Although children with FXS may have delayed development of repair relative to typically developing expectations, in general they nonetheless catch up and demonstrate a robust ability to repair by three-and-a-half years of age. However, this study provides evidence that individual differences in language and social skills may influence ability to repair in children with FXS. Finally, the relationship between autism symptoms and repair remains unclear, necessitating further exploration. IMPLICATIONS: Given the noted delay in repair in young children with FXS, clinicians working with this population should target development of this skill as early as possible to maximize successful social interactions. This may be particularly necessary for children with FXS and co-morbid autism.

Child Challenging Behavior Influences Maternal Mental Health and Relationship Quality Over Time in Fragile X Syndrome.

Parenting children with neurodevelopmental disabilities is often challenging. Biological mothers of children with Fragile X Syndrome (FXS) may be susceptible to increased risk of mental health problems. This study examined the longitudinal relationships between maternal mental health, child challenging behaviors, and mother-child relationship quality in children and adolescents with FXS. Fifty-five mother-child dyads were followed from childhood into adolescence. The findings suggest that child challenging behaviors, maternal mental health, and mother-child relationship quality were stable during that period. Additionally, elevated levels of child challenging behaviors negatively impacted maternal mental health. Finally, child challenging behaviors, in combination with maternal mental health, influenced mother-child relationship quality. Clinical implications are discussed.

Language Development From Early Childhood to Adolescence in Youths With Fragile X Syndrome.

Purpose The aim of this study was to investigate language growth in individuals with fragile X syndrome (FXS) from early childhood to adolescence and the influence of maternal responsivity on language growth. Method We conducted a longitudinal analysis of language development in 55 youths (44 males, 11 females) with FXS. Data collection spanned the ages of 11-216 months. We measured expressive and receptive vocabulary with standardized tests. The number of different words and mean length of utterance were obtained from language sample analyses of mother-child interactions. We also measured maternal comments (responsivity indicator) produced during the language samples and child nonverbal IQ. Results Growth models indicated that rates of number of different words and receptive vocabulary were related to maternal commenting. Mean length of utterance did not change significantly over time. Expressive vocabulary measured with a standardized test grew, but the growth was not related to maternal commenting. Nonverbal IQ was related to all language outcomes at age of 10 years and to changes over time in vocabulary. Visual analysis indicated that the highest scores on standardized tests were produced by girls; however, measures derived from language sample analyses appeared similar for boys and girls. Language models for boys only were similar to the total sample models with lower scores at age of 10 years for some outcomes. Conclusion Results of persistent language impairments for most youths with FXS suggest the need for continued, focused interventions aimed at improved language productions in addition to a responsive environment. Supplemental Material https://doi.org/10.23641/asha.13022825.

Early Predictors of Later Expressive Language in Boys With Fragile X Syndrome.

The predictive ability of early consonant inventory and intentional communication on later expressive language was examined in 36 boys with fragile X syndrome (FXS). Autism symptom severity was included as a potential moderator. Participants were visited in their homes twice over a 6-year period, and mother-child interactions were videotaped, coded, and transcribed behavior by behavior. Consonant inventory and concurrent autism symptom severity were predictive of later number of different words, as was the interaction between the two. Intentional communication was not predictive of number of different words. These findings provide additional specific evidence for differences in foundational language abilities associated with autism symptom severity in boys with FXS. Clinical implications are discussed.