Heather Fielding-Gebhardt

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.

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.

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.

Background and 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. Communication repair demonstrates adequate language and social skills. Children with Fragile X Syndrome 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 Fragile X Syndrome and co-morbid autism. This study examined the development of repair in children with Fragile X Syndrome from toddlerhood into middle childhood. Methods: Fifty-five children with Fragile X Syndrome 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 Fragile X Syndrome 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 Fragile X Syndrome to utilize repairs in their daily interactions. Although children with Fragile X Syndrome 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 Fragile X Syndrome. Finally, the relationship between autism symptoms and repair remains unclear, necessitating further exploration. Implications: Given the noted delay in repair in young children with Fragile X Syndrome, 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 Fragile X Syndrome and co-morbid autism.

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.

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.

Purpose: The purpose of this study was to investigate the reliability of an automated language analysis system, the Language Environment Analysis (LENA), compared with a human transcriber to determine the rate of child vocalizations during recording sessions that were significantly shorter than recommended for the automated device.Method: Participants were 6 nonverbal male children between the ages of 28 and 46 months. Two children had autism diagnoses, 2 had Down syndrome, 1 had a chromosomal deletion, and 1 had developmental delay. Participants were recorded by the LENA digital language processor during 14 play-based interactions with a responsive adult. Rate of child vocalizations during each of the 84 recordings was determined by both a human transcriber and the LENA software.Results: A statistically significant difference between the 2 methods was observed for 4 of the 6 participants. Effect sizes were moderate to large. Variation in syllable structure did not explain the difference between the 2 methods. Vocalization rates from the 2 methods were highly correlated for 5 of the 6 participants.Conclusions: Estimates of vocalization rates from nonverbal children produced by the LENA system differed from human transcription during sessions that were substantially shorter than the recommended recording length. These results confirm the recommendation of the LENA Foundation to record sessions of at least 1 hr.