Deborah J. Fidler

The Emerging Down Syndrome Behavioral Phenotype in Early Childhood Implications for Practice

Previous studies have reported a specific behavioral phenotype, or a distinct profile of behavioral outcomes, associated with Down syndrome. Until recently, however, there has been little attention given to how this behavioral profile emerges and develops over time. It is argued here that some aspects of the Down syndrome behavioral phenotype are already emerging in infants and toddlers, including emerging relative strengths in some aspects of visual processing, receptive language and nonverbal social functioning, and relative weaknesses in gross motor skills and expressive language skills. Research on the early developmental trajectory associated with Down syndrome (and other genetic disorders) is important because it can help researchers and practitioners formulate interventions that are time-sensitive, and that prevent or offset potential future negative outcomes. This article reviews evidence for the emerging Down syndrome behavioral phenotype in infants, toddlers, and preschoolers. This is followed by a discussion of intervention approaches that specifically target this developing profile, with a focus on language, preliteracy skills, and personality motivation.

Stress in Families of Young Children with Down Syndrome, Williams Syndrome, and Smith-Magenis Syndrome

This study examined whether stress levels differ in families of young children with three different genetic etiologies of mental retardation, and whether child characteristics associated with those genetic etiologies may help explain these differences. Participants were sixty families of young children with Down syndrome, Williams syndrome, and Smith-Magenis syndrome. All children were between the ages of 3 and 10 years. Parents completed Achenbachs Child Behavior Checklist, the Questionnaire on Resources and Stress-Friedrich edition, and a demographic questionnaire. Families of children with Down syndrome experienced significantly less Pessimism than the other two etiology groups and significantly less Parent and Family Problems than families of children with Smith-Magenis syndrome. The strongest predictor of Parent and Family Problems was maladaptive behavior in Smith-Magenis syndrome, younger age in Down syndrome, and both maladaptive behavior and younger age in Williams syndrome. Maladaptive behavior predicted Pessimism in families of children with Smith-Magenis syndrome, but none of the variables examined significantly predicted Pessimism in the other two syndromes. The importance of behavioral phenotype research is discussed for practitioners working with young children with mental retardation and their families.

Less Stress, More Rewarding: Parenting Children With Down Syndrome

Objective. We argue that, compared to other children with disabilities, parents of children with Down syndrome may experience less stress and more rewards. Design. After reviewing changes in studies examining parenting children with disabilities, we note how specific genetic disorders predispose children to different, etiology-related behaviors, which in turn predispose their parents to particular reactions. We then survey studies of both stress and rewardingness in parents of children with Down syndrome versus children with other disabilities. Results. Parents of children with Down syndrome report less stress and more child-related rewards than parents of children with other disabilities; indeed, parents of children with Down syndrome may feel equally rewarded compared to parents of same-aged typical children. Conclusions. By comparing feelings of parents of children with Down syndrome versus children with other disabilities, we begin to understand which child behaviors bring about which parental reactions. Such information provides both theoretical and practical benefits to professionals interested in parenting.

Screening for autism spectrum disorders in children with down syndrome: population prevalence and screening test characteristics.

Objective: We assessed the prevalence of autism spectrum disorders (ASD) and screening test characteristics in children with Down syndrome. Method: Eligible children born in a defined geographic area between January 1, 1996, and December 31, 2003, were recruited through a population-based birth defects registry and community outreach, then screened with the modified checklist for autism in toddlers or social communication questionnaire, as appropriate. Screen-positive children and a random sample of screen-negative children underwent developmental evaluation. Results: We screened 123 children (27.8% of the birth cohort). Mean age was 73.4 months (range, 31–142). Compared to screen-negative children, screen-positive children had similar sociodemographic characteristics but a lower mean developmental quotient (mean difference: 11.0; 95% confidence interval: 4.8–17.3). Weighted prevalences of autistic disorder and total ASD were 6.4% (95% confidence interval [CI]: 2.6%–11.6%) and 18.2% (95% CI: 9.7%–26.8%), respectively. The estimated minimum ASD prevalence, accounting for unscreened children, is 5.1% (95% CI: 3.3%–7.4%). ASD prevalence increased with greater cognitive impairment. Screening test sensitivity was 87.5% (95% CI: 66.6%–97.7%); specificity was 49.9% (95% CI: 37.0%–61.4%). Conclusion: The prevalence of ASD among children with Down syndrome aged 2 to 11 years is substantially higher than in the general population. The modified checklist for autism in toddlers and social communication questionnaire were highly sensitive in children with Down syndrome but could result in many false positive tests if universal screening were implemented using current algorithms. Research needs include development of specific ASD screening algorithms and improved diagnostic discrimination in children with Down syndrome. Timely identification of these co-occurring diagnoses is essential so appropriate interventions can be provided.

Nonverbal Requesting and Problem-Solving by Toddlers with Down Syndrome.

The association between nonverbal requesting (as measured by the Early Social Communication Scales) and problem-solving skills (as measured by an object retrieval task) was examined in 16 toddlers who had Down syndrome, 18 toddlers with developmental disabilities of mixed etiologies, and 19 typically developing infants and toddlers. Toddlers with Down syndrome showed fewer instrumental requests than did those in the typically developing group, but equal numbers of social routine requests. Toddlers with Down syndrome also showed poorer problem-solving strategies and received more help than children in both comparison groups on the object-retrieval task. Results showed a significant association between instrumental requests and problem-solving in the Down syndrome group. Implications for strengthening problem-solving skills in Down syndrome are discussed.

Caregiver Report of Executive Functioning in a Population-Based Sample of Young Children With Down Syndrome

The current study describes everyday executive function (EF) profiles in young children with Down syndrome. Caregivers of children with Down syndrome (n  =  26; chronological ages  =  4-10 years; mental ages  =  2-4 years) completed the Behavior Rating Inventory of Executive Function-Preschool (BRIEF-P; G. A. Gioia, K. A. Espy, & P. K. Isquith, 2003 ), a caregiver report measure of everyday/functional EF skills in multiple domains. On the BRIEF-P, elevations were noted on a global EF composite as well as the Working Memory and Plan/Organize scales in particular (relative to norms developed for typically developing children of a similar mental age). These results suggest a specific pattern of EF weaknesses in young children with Down syndrome, consistent with the extant literature that has focused primarily on older individuals who have been tested using laboratory EF tasks.

Behavioral Phenotypes and Special Education Parent Report of Educational Issues for Children with Down Syndrome, Prader-Willi Syndrome, and Williams Syndrome

This study examined the degree to which parents are informed about syndrome-based behaviors in children with three genetic mental retardation syndromes: Down syndrome (n = 21), Prader-Willi syndrome (n = 25), and Williams syndrome (n = 21). Parents were informed regarding blatant behavioral features associated with their childrens syndromes (especially concerning maladaptive behaviors) but were less informed about certain subtle syndrome-based cognitive processing outcomes. Compared to the parents of children with the other two syndromes, parents of children with Down syndrome were more informed about syndrome-related behaviors; in addition, greater numbers of individuals (e.g., parents, school psychologists, teachers, speech—language pathologists) brought information about children with Down syndrome into the classroom setting. Across all three groups, the supportive educational services received by the children were generally not adjusted to syndrome profiles.

Profiles of Everyday Executive Functioning in Young Children With Down Syndrome

We investigated executive functioning (EF) in children with Down syndrome (DS; n  =  25) and typically developing (TD) children matched for mental age (MA; n  =  23) using the Behavior Rating Inventory of Executive Function-Preschool. We sought to (1) compare children with DS to a developmentally matched control group, and (2) to characterize the EF profile of children with DS. Across teacher and parent reports, significant deficits in working memory and planning were observed in the DS group. Parents, but not teachers, of children with DS also reported difficulties in inhibitory control relative to the comparison group. Results extend earlier findings regarding EF impairments in children with DS. The complementary role inhibitory control may play in this profile is discussed.

Emerging social strengths in young children with down syndrome

Many individuals with Down syndrome show relative strengths in social functioning throughout childhood, and they may “overuse” their social skills to compensate for other weaker domains of functioning (C. Kasari & S. Freeman, 2001; J. G. Wishart, 1996). To intervene in this area, it is important to document the emergence of this social strength, and characterize those specific skills that develop with such competence. In this study, we present data from the Bayley Scales of Infant Development comparing early developmental functioning in young children with Down syndrome (n = 23) and a mental age–matched comparison group of children with idiopathic developmental delays (n = 25) at 12 and 30 months. Results suggest that early orienting and engagement behaviors in young children with Down syndrome may emerge with greater competence than other areas of development (eg, emotion regulation, motor functioning). We also discuss the implications of this study regarding early intervention planning that targets the emerging phenotype in young children with Down syndrome.

Applying the Emotional Availability Scales to children with disabilities

In this article, we describe issues regarding emotional availability and its application to children with disabilities. We then apply this approach to the scoring of emotional availability for caregiver-child interactions of children with disabilities, with information based on children with genetic mental retardation syndromes, children with autism, and children with hearing impairments.