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.

Despite the shared presence of an intellectual disability (ID), there is a growing literature documenting important phenotypic differences between Down syndrome (DS) and fragile X syndrome (FXS). These conclusions, however, are based on a synthesis across studies, each of which typically includes only measures of a limited number of constructs, and with differing participant characteristics. Firmer conclusions regarding specific phenotypes require a single comprehensive multi-domain assessment of participants with the syndrome groups being well matched on chronological age (CA) and cognitive functioning. The current study was designed to fill this gap by assessing several important cognitive and behavioral domains relevant to communication, such as: structural language skills, false belief understanding, as well as pragmatics and behavioral difficulties, in 30 adolescents of both sexes with DS and 39 males with FXS, matched on CA and nonverbal (NV) cognition. After statistically controlling for NV cognition, we did not find significant syndrome differences in expressive and receptive structural language or false belief understanding. In contrast, participants with DS displayed less stereotyped language and fewer behavioral difficulties compared to males with FXS. Within-syndrome associations among the targeted domains are described. Finally, females with DS were less impaired than males with DS in almost all structural language domains, whereas no significant sex-related differences were observed in NV cognition, false belief understanding, pragmatics, or behavior. Clinical and methodological implications of the findings are discussed.

There is a need for psychometrically sound outcome measures for treatment studies that have a low burden for families and that are available in multiple languages. We have developed a language assessment in English and Spanish that parents can administer to their children at home via telehealth-delivered procedures. The current case study presents descriptive data on a single family of two parent-child dyads. Both the mother and father from a single family were trained in their primary language (Spanish) on how to administer the Expressive Language Sampling - Narration (ELS-N) in their secondary language (English) to their two English-speaking monolingual sons with ASD through telehealth-delivered procedures. Both parents learned to administer the procedures to a predetermined level of fidelity. Extension to a larger sample of bilingual families is needed for this home-based, parent-administered test; however, the present results suggest feasibility even when the language of training and administration differ.

Background

It is well known that individuals with Down syndrome (DS) or fragile X syndrome (FXS) demonstrate expressive language difficulties beginning early in childhood. It is less clear, however, whether expressive language skills change during the adolescent period in these individuals, and if any of these changes are syndrome specific. Studying this, as well as the role of maternal and family-related factors in expressive language development, may provide the foundation for efficacious interventions for adolescents with DS or FXS.

Methods

In this study, we examined expressive language trajectories, assessed through conversation and narration, in 57 adolescent males with intellectual disability (ID) (20 DS and 37 FXS) in relation to the diagnostic group (DS vs. FXS) and family-related factors (maternal IQ, maternal psychological distress, closeness in the mother-child relationship, family income, and maternal and paternal education) after adjusting for chronological age (CA) and nonverbal cognition.

Results

Changes over repeated annual assessments for males with DS or FXS were observed only during conversation, such as an increase in talkativeness, but a decrease in syntax complexity and lexical diversity. We found a diagnosis-related effect in the change over time in conversational talkativeness favoring those with FXS. Finally, a closer mother-child relationship predicted less decrease over time in lexical diversity during conversation, and participants of mothers who graduated college showed a greater increase in conversational talkativeness over time compared to those of mothers with a high school education.

Conclusions

Our results suggest that, during the adolescent period for males with DS or FXS, there is an increase in the amount of talk produced in conversational contexts, but also a decrease in the quality of the language produced. In addition, our results indicate syndrome-specificity for aspects of expressive language development and reinforce the protective role of family-related factors.

Background

Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, leading to decreased levels of FMR1 protein (FMRP), which causes the array of neuropsychological impairments that define FXS. Because FXS is an X-linked condition, fewer females display FXS and females with FXS are more mildly affected than males, on average. However, there is a considerable variability in terms of severity of affectedness among females with FXS. The current study was designed to investigate potential genetic (FMRP level and ratio of affected to total chromosomes) and environmental factors (maternal psychological distress and closeness in the mother-child relationship) influencing the cognitive (fluid and crystallized intelligence) and behavioral (anxiety and withdrawal) phenotype of females with FXS.

Methods

We conducted a prospective 3-year longitudinal study of 16 females with FXS (with up to four assessments, each separated by a year) using an accelerated longitudinal design so that we had coverage of the age range of 10-15 years at study start and 13-18 at study end. We focused on both the level of functioning related to chronological age expectations (standard scores) and absolute change in skill (raw scores) over the 3-year period.

Results

At a cross-sectional level, fluid intelligence and crystallized intelligence were both predicted by a closer mother-child relationship and lower maternal psychological distress. However, only fluid intelligence was predicted by a lower ratio of affected to total chromosomes. Anxiety and withdrawal were predicted by a higher ratio of affected to total chromosomes. Withdrawal was also predicted by lower closeness in the mother-child relationship and higher maternal distress. In terms of longitudinal change, gains were observed in fluid and crystallized intelligence, whereas anxious and withdrawn behaviors remained stable over visits. Gains in fluid intelligence were solely predicted by FXS biomarkers (higher FMRP level and lower ratio of affected to total chromosomes), while gains in crystallized intelligence were not predicted by any of the biological and environmental variables.

Conclusions

Our results show that FXS biomarkers and maternal variables contribute differentially to the cognitive and behavioral features of the adolescent female with FXS. These findings can help in the design of treatment studies aimed at enhancing cognitive and behavioral abilities in the FXS population.

Language impairments are frequent, severe, and of prognostic value in autism spectrum disorder (ASD). Unfortunately, the evaluation of the efficacy of treatments targeting the language skills of those with ASD continues to be hindered by a lack of psychometrically sound outcome measures. Expressive Language Sampling (ELS) procedures offer a promising alternative to norm-referenced standardized tests for assessing expressive language in treatment studies. Until now, however, research on the validity and utility of ELS as outcome measures has been limited to administrations by a trained professional in a clinic setting and to use with English-speaking families. These limitations are a barrier for many families accessing the benefits of participation in treatment studies. The current study examines the feasibility of teaching native English-speaking parents (NESP) and native Spanish-speaking parents (NSSP) how to administer the ELS narrative task (ELS-N) to their sons and daughters with ASD (between ages 6 and 21) at home through telehealth-delivered procedures. The parent training was provided in the primary language of the participating parent (i.e., 11 NSSP and 11 NESP) and administered by the parent to the youth in the language that the parent reported to use to communicate with the youth at home (i.e., 9 Spanish and 13 English). Families were able to choose between using their own technology or be provided with the technology needed for participation. Of the 19 parents who completed the training, 16 learned to administer the ELS-N procedures. In addition, strong test-retest reliability and no practice effects over the 4-week interval were observed for ELS-N derived youth outcome measures (i.e., talkativeness, vocabulary, syntax, dysfluency, and intelligibility) for both NSSP and NESP. Results from this pilot study suggest that the home-based parent-implemented ELS-N procedures can be learned and administered at acceptable levels of fidelity by parents, with good test-retest reliability and limited practice effects observed in terms of outcome measures for youth with ASD. Implications for treatment studies and future directions are discussed.

Attention-deficit/hyperactivity disorder is frequently reported in individuals with Down syndrome, with considerable variation in the expression and severity of the symptoms. Despite growing evidence that gestational age predicts later symptoms of attention-deficit/hyperactivity disorder in the euploid population, this has not been studied in down syndrome. The current study is designed to investigate the influence of gestational age in later symptoms of attention-deficit/hyperactivity disorder in 105 individuals (49 males and 56 females; aged 6-18 years) with Down syndrome who were born at or after 35 weeks gestation. Maternal age at birth, maternal level of education, household income, as well as sex, chronological age, and cognitive level of the participant with Down syndrome were considered in our analysis. Results from this study show that gestational age is related to inattentive and hyperactive/impulsive symptoms in children and adolescents with Down syndrome. Therefore, gestational age should be addressed when considering symptoms of attention-deficit/hyperactivity disorder, as it may have implications for early interventions. More attention is needed toward the advancement of care and follow-up for infants with down syndrome who are born even late preterm or early term.

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.

There is a growing body of evidence to suggest that individuals with Down syndrome (DS) are diagnosed with autism spectrum disorders (ASD) at a higher rate than individuals in the general population. Nonetheless, little is known regarding the unique presentation of ASD symptoms in DS. The current study aims to explore the prevalence and profiles of ASD symptoms in a sample of individuals with DS (n = 83), aged between 6 and 23 years. Analysis of this sample (M_Age = 15.13) revealed that approximately 37% of the sample met the classification cut-off for ASD using the Autism Diagnostic Observation Schedule 2 (ADOS-2) Calibrated Severity Score (CSS), an indicator of the participants' severity of ASD-related symptoms. Item-level analyses revealed that multiple items on Module 2 and Module 3 of the ADOS-2, mostly in the Social Affect (SA) subdomain, differentiated the children with DS who did not meet ASD classification (DS-only) from those who did (DS + ASD). Lastly, comparisons of individuals with DS-only and those with DS + ASD differed significantly on the syntactic complexity of their expressive language. These findings shed light on the unique presentation of ASD symptoms in a sample of individuals with DS and suggest that expressive language abilities may play a pivotal role in the presentation of ASD symptoms in DS.

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.