The association between expressive language skills and adaptive behavior in individuals with Down syndrome.

The primary goal of this study was to determine whether expressive language skills contribute to adaptive behavior (e.g., socialization and daily living skills) in children, adolescents, and young adults with Down syndrome (DS) whilst controlling for age and nonverbal cognitive ability. Expressive language was assessed using the psychometrically validated Expressive Language Sampling (ELS) conversation and narration procedures. The language produced was transcribed and analyzed to yield measures of expressive vocabulary, syntax, and intelligibility. Socialization and daily living skills of participants with DS were measured with the Vineland Adaptive Behavior Scales, 2nd edition (VABS-2) parent/caregiver rating form. Our results show that the three ELS measures were significantly correlated with multiple measures from the VABS-2 when controlling for age. Several correlations remained significant even when nonverbal cognitive ability was included as a control variable. Our results suggest that expressive language skills contribute to adaptive behavior in children, adolescents, and young adults with DS regardless of age and some of these associations are not explained solely by overall cognitive delays. Further studies including longitudinal data are needed to extend our results.

Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome.

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.

Relationship between Apgar scores and long-term cognitive outcomes in individuals with Down syndrome.

This study examined the contribution of the Apgar score at 1 and 5 min after birth to later cognitive functioning in 168 individuals with Down syndrome who were between 6 and 25 years of age at time of cognitive testing. Our results showed that a lower Apgar score at 1 min was related to a worse performance in later cognitive measures of receptive vocabulary, verbal comprehension and production, visual memory and working memory. Results also showed that a lower Apgar score at 5 min was only related to worse later outcomes of verbal comprehension and production and auditory working memory. Our findings suggest a need for future studies investigating how specific perinatal events reflected in the Apgar score are linked to later cognitive functioning in individuals with Down syndrome.

Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis.

BACKGROUND: There is a high degree of inter- and intra-individual variability observed within the phenotype of Down syndrome. The Down Syndrome Cognition Project was formed to capture this variability by developing a large nationwide database of cognitive, behavioral, health, and genetic information on individuals with Down syndrome, ages 6-25 years. The current study used the Down Syndrome Cognition Project database to characterize cognitive and behavioral variability among individuals with Down syndrome. METHODS: Latent profile analysis was used to identify classes across a sample of 314 participants based on their cognition (IQ and executive functioning), adaptive and maladaptive behavior, and autism spectrum disorder symptomatology. A multivariate multinomial regression model simultaneously examined demographic correlates of class. RESULTS: Results supported a 3-class model. Each class demonstrated a unique profile across the subdomains of cognition and behavior. The "normative" class was the largest (n = 153, 48%) and displayed a relatively consistent profile of cognition and adaptive behavior, with low rates of maladaptive behavior and autism symptomatology. The "cognitive" class (n = 109, 35%) displayed low cognitive scores and adaptive behavior and more autism symptomatology, but with low rates of maladaptive behavior. The "behavioral" class, the smallest group (n = 52, 17%), demonstrated higher rates of maladaptive behavior and autism symptomatology, but with cognition levels similar to the "normative" class; their adaptive behavior scores fell in between the other two classes. Household income and sex were the only demographic variables to differ among classes. CONCLUSIONS: These findings highlight the importance of subtyping the cognitive and behavioral phenotype among individuals with Down syndrome to identify more homogeneous classes for future intervention and etiologic studies. Results also demonstrate the feasibility of using latent profile analysis to distinguish subtypes in this population. Limitations and future directions are discussed.

Feasibility of an app-based mindfulness intervention among women with an FMR1 premutation experiencing maternal stress.

BACKGROUND: Women who carry an FMR1 premutation (PM) allele and are mothers of children with fragile X syndrome (FXS) experience elevated maternal stress. In-person mindfulness sessions have been shown to be effective in alleviating maternal stress-related outcomes among mothers of children with intellectual and developmental disabilities. Our prior studies indicate women with a PM are at risk of social anxiety, a potential barrier to in-person mindfulness sessions. AIM: The main goals of this pilot study were to assess feasibility and adherence of an app-based mindfulness training program among mothers of children with FXS and to explore stress, social outcomes, and potential barriers to social support. METHODS: Participants (n = 18) completed questionnaires to assess stress and social anxiety, an app-based mindfulness program, and a semi-structured follow-up interview. RESULTS: Thirteen out of 18 (72%) participants completed the mindfulness program; of those, 10 (77%) found it helpful. Eight out of 18 (44%) participants met criteria for social anxiety and 11 (61%) reported having difficulties reaching out for help when needed. Women with social anxiety and those experiencing barriers to social support were more likely to find the program helpful. CONCLUSIONS: This study provides guidance for future mindfulness-based interventions to alleviate maternal stress in mothers of children with FXS.

Associations Between Medical History, Cognition, and Behavior in Youth With Down Syndrome: A Report From the Down Syndrome Cognition Project.

The cause of the high degree of variability in cognition and behavior among individuals with Down syndrome (DS) is unknown. We hypothesized that birth defects requiring surgery in the first years of life (congenital heart defects and gastrointestinal defects) might affect an individual's level of function. We used data from the first 234 individuals, age 6-25 years, enrolled in the Down Syndrome Cognition Project (DSCP) to test this hypothesis. Data were drawn from medical records, parent interviews, and a cognitive and behavior assessment battery. Results did not support our hypothesis. That is, we found no evidence that either birth defect was associated with poorer outcomes, adjusting for gender, race/ethnicity, and socioeconomic status. Implications for study design and measurement are discussed.