Everyday executive functions in Down syndrome from early childhood to young adulthood: evidence for both unique and shared characteristics compared to youth with sex chromosome trisomy (XXX and XXY)

Abstract

Executive functions (EF) are thought to be impaired in Down syndrome (DS) and sex chromosome trisomy (Klinefelter and Trisomy X syndromes; +1X). However, the syndromic specificity and developmental trajectories associated with EF difficulties in these groups are poorly understood. The current investigation (a) compared everyday EF difficulties in youth with DS, +1X, and typical development (TD); and (b) examined relations between age and EF difficulties in these two groups and a TD control group cross-sectionally. Study 1 investigated the syndromic specificity of EF profiles on the Behavior Rating Inventory of Executive Function (BRIEF) in DS (n = 30), +1X (n = 30), and a TD group (n = 30), ages 5–18 years. Study 2 examined age effects on EF in the same cross-sectional sample of participants included in Study 1. Study 3 sought to replicate Study 2's findings for DS by examining age-EF relations in a large independent sample of youth with DS (n = 85) and TD (n = 43), ages 4–24 years. Study 1 found evidence for both unique and shared EF impairments for the DS and +1X groups. Most notably, youth with +1X had relatively uniform EF impairments on the BRIEF scales, while the DS group showed an uneven BRIEF profile with relative strengths and weaknesses. Studies 2 and 3 provided support for fairly similar age-EF relations in the DS and TD groups. In contrast, for the +1X group, findings were mixed; 6 BRIEF scales showed similar age-EF relations to the TD group and 2 showed greater EF difficulties at older ages for +1X. These findings will be discussed within the context of efforts to identify syndrome specific cognitive-behavioral profiles for youth with different genetic syndromes in order to inform basic science investigations into the etiology of EF difficulties in these groups and to develop treatment approaches that are tailored to the needs of these groups.

Emotion regulation in adults with Klinefelter syndrome (47,XXY): Neurocognitive underpinnings and associations with mental health problems

“…This fits with reports of increased experiences of stress and anxiety during social interactions, both in adults and children with 47,XXY (van Rijn, Stockmann et al, ; van Rijn, Swaab, Aleman, & Kahn, ). Such deviations in the generation and processing of emotional responses fit with reports increased risk for compromised emotion regulation abilities in individuals with 47,XXY (Lee et al, ). Emotion regulation has been defined as the “processes that are responsible for the monitoring, evaluating, and modifying of emotional reactions in the service of achieving goals for well‐being” (Thompson, ).…”

“…It is important to study this as it may help in explaining the reported lower quality of life, which includes academic and employment success (Herlihy et al, ). Of specific interest are the reported emotion regulation problems (Lee et al, ), as well as atypical emotion reactivity and emotion experience, as described below. Psychophysiological studies using skin conductance measures have revealed that 47,XXY adults may have a tendency to respond with increased arousal towards socioemotional cues (van Rijn, Barendse, van Goozen, & Swaab, ), and may have difficulties identifying and labeling experienced emotions (van Rijn, Barendse et al, ; van Rijn, Swaab, Aleman, & Kahn, ).…”

Adaptive behaviour, executive function and employment in adults with Down syndrome

“…; Lee et al . , ) and strengths in Emotional Control and Organization of Materials (Daunhauer et al . ; Lee et al .…”

“…; Lee et al . , ). In addition, parents, but not teachers, reported difficulties on the Inhibit domain (Daunhauer et al .…”

“…; Heyman & Hauser‐Cram ; Lee et al . ,). In this study, we characterise the adaptive behaviour profile in adults with DS using the Vineland Adaptive Behavior Scales – Second Edition (VABS‐II) and the profile of caregiver‐reported EF in adults with DS using the BRIEF‐A.…”