The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects.

A multisite study investigated the test-retest reliability and practice effects of a battery of assessments to measure neurocognitive function in individuals with Down syndrome (DS). The study aimed to establish the appropriateness of these measures as potential endpoints for clinical trials. Neurocognitive tasks and parent report measures comprising the Arizona Cognitive Test Battery (ACTB) were administered to 54 young participants with DS (7-20 years of age) with mild to moderate levels of intellectual disability in an initial baseline evaluation and a follow-up assessment 3 months later. Although revisions to ACTB measures are indicated, results demonstrate adequate levels of reliability and resistance to practice effects for some measures. The ACTB offers viable options for repeated testing of memory, motor planning, behavioral regulation, and attention. Alternative measures of executive functioning are required.

Influence of CHDs on psycho-social and neurodevelopmental outcomes in children with Down syndrome.

OBJECTIVE: To evaluate the family psycho-social outcomes of children with Down syndrome and atrioventricular septal defect, and examine the impact of these variables on the child's neurodevelopmental outcome. METHODS: This was a cross-sectional study that consisted of 57 children with Down syndrome - 20 cases and 37 controls - of ~12-14 months of age. In both groups, we assessed the development of the child, the quality of the child's home environment, and parenting stress. RESULTS: Compared with the Down syndrome without CHD group, the atrioventricular septal defect group revealed lower scores in all developmental domains, less optimal home environments, and higher parental stress. Significant differences in development were seen in the areas of cognition (p=0.04), expressive language (p=0.05), and gross motor (p<0.01). The Home Observation for Measurement of the Environment revealed significant differences in emotional and verbal responsiveness of the mother between the two groups. The Parenting Stress Index revealed that the Down syndrome with atrioventricular septal defect group had a significantly higher child demandingness subdomain scores compared with the Down syndrome without CHD group. CONCLUSIONS: The diagnosis of a CHD in addition to the diagnosis of Down syndrome may provide additional stress to the child and parents, elevating parental concern and disrupting family dynamics, resulting in further neurodevelopmental deficits. Finding that parental stress and home environment may play a role in the neurodevelopmental outcomes may prompt new family-directed interventions and anticipatory guidance for the families of children with Down syndrome who have a CHD.

Improving Health Education for Women Who Carry an FMR1 Premutation.

Women who carry an FMR1 (i.e., fragile X) premutation have specific health risks over their lifetime. However, little is known about their experience understanding these risks and navigating their health needs. The aim of this study was to use qualitative analysis to uncover both barriers and facilitators to personal healthcare using a framework of the Health Belief Model. Five focus groups were conducted with a total of 20 women who carry the FMR1 premutation using a semi-structured discussion guide. All sessions were transcribed verbatim and independently coded by two researchers. The coders used a deductive - inductive approach to determine the prominent themes related to the participants' experiences seeking healthcare for premutation-related conditions. Salient barriers to personal healthcare included difficult clinical translation of research findings, lack of knowledge among healthcare providers and among the women themselves, different priorities, and shortage of premutation-specific support and targeted educational materials. Facilitators included family members, national and community support organizations, research studies, compassionate physicians, and other premutation carriers. Addressing barriers to personal healthcare through up-to-date educational materials can help diminish misperceptions regarding health risks. Targeted educational materials will aid in information sharing and awareness for women who carry the FMR1 premutation and their physicians.

Cognitive aspects of Fragile X syndrome.

Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability. It is primarily caused by the expansion of a CGG trinucleodide repeat located in the 5' untranslated region of the X-linked FMR1 gene. Individuals with FXS present with variable intellectual quotients (IQs) ranging from the average to the severe intellectual disability level. A range of neurocognitive strengths and challenges are observed in individuals with FXS. This article provides an overview of our current understanding related to cognition and FXS. Cognitive functioning levels, profiles, and IQ trajectories are discussed. Limitations of existing neuropsychological measures are described. WIREs Cogn Sci 2014, 5:501-508. doi: 10.1002/wcs.1296 This article is categorized under: Neuroscience > Cognition.

Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects.

Trisomy 21, the chromosomal condition responsible for Down syndrome (DS, OMIM #190685), is the most common identifiable genetic cause of intellectual disability. Approximately half of all children with DS are born with a significant congenital heart defect (CHD), the most common of which is an atrioventricular septal defect (AVSD). As children with comorbid DS and CHD increasingly survive cardiac surgery, characterization of their early developmental trajectories is critical for designing early interventions to maximize individual potential. Herein, the developmental domains (cognitive, language, and motor) of children with DS and AVSD (DS + AVSD, n = 12) were compared to children with DS and a structurally normal heart (DS - CHD, n = 17) using the Bayley Scales of Infant and Toddler Development III. The DS + AVSD cohort mean age was relatively the same as controls with DS - CHD, 14.5 ± 7.3 months compared with 14.1 ± 8.4 months, respectively. Although the motor domain was the only domain that showed a statistically significant difference between groups (P < 0.05), both cognitive standard scores (P = 0.63) and language composite standard scores (P = 0.10) were lower in the DS + AVSD cases compared with the DS - CHD controls although it is not statistically significant. Since this is the first study to examine the early developmental outcomes of children with DS + AVSD, the findings may be useful for clinicians in providing anticipatory guidance.

A case study with an identified bully: policy and practice implications.

OBJECTIVE: Bullying is a serious public health problem that may include verbal or physical injury as well as social isolation or exclusion. As a result, research is needed to establish a database for policies and interventions designed to prevent bullying and its negative effects. This paper presents a case study that contributes to the literature by describing an intervention for bullies that has implications for practice and related policies regarding bullying. METHODS: An individualized intervention for an identified bully was implemented using the Participatory Culture-Specific Intervention Model (PCSIM; Nastasi, Moore, & Varjas, 2004) with a seventh-grade middle school student. Ecological and culture-specific perspectives were used to develop and implement the intervention that included psychoeducational sessions with the student and consultation with the parent and school personnel. A mixed methods intervention design was used with the following informants: the target student, the mother of the student, a teacher and the school counselor. Qualitative data included semi-structured interviews with the parent, teacher and student, narrative classroom observations and evaluation/feedback forms filled out by the student and interventionist. Quantitative data included the following quantitative surveys (i.e., Child Self Report Post Traumatic Stress Reaction Index and the Behavior Assessment Scale for Children). Both qualitative and quantitative data were used to evaluate the acceptability, integrity and efficacy of this intervention. RESULTS: The process of intervention design, implementation and evaluation are described through an illustrative case study. Qualitative and quantitative findings indicated a decrease in internalizing, externalizing and bullying behaviors as reported by the teacher and the mother, and a high degree of acceptability and treatment integrity as reported by multiple stakeholders. CONCLUSION: This case study makes important contributions by describing an intervention that is targeted to specific needs of the bully by designing culture specific interventions and working with the student's unique environmental contexts. Contributions also are made by illustrating the use of mixed methods to document acceptability, integrity and efficacy of an intervention with documented positive effects in these areas. In addition, implications for policy and practice related to the treatment of students identified as bullies and future research needs are discussed.

Developmental outcomes of Down syndrome and Dandy-Walker malformation.

Dandy-Walker syndrome (DWS), or Dandy-Walker complex, is a congenital brain malformation of the posterior fossa, typically resulting in developmental delay and cognitive disability. The co-occurrence of Down syndrome (DS) and DWS is relatively uncommon; thus, its impact on developmental outcomes has not been fully elucidated. Herein, we report a case of a 37-month-old child with DS and DWS, who is functioning at the following age-equivalent: gross motor at a 9-mo level, fine motor 6 mo, expressive language 14 mo, receptive language 9 mo. As such, it is important to determine how the DWS influences developmental outcomes, and appreciate the importance of early interventional therapy.

Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.

Opitz and Kaveggia [Opitz and Kaveggia (1974); Z Kinderheilk 117:1-18] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus and hypotonia. Risheg et al. [Risheg et al. (2007); Nat Genet 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the family reported in 1974. The previously defined behavior phenotype of hyperactivity, affability, and excessive talkativeness is very frequent in young boys with this mutation, along with socially oriented, attention-seeking behaviors. We present case studies of two older males with FG syndrome and the p.R961W mutation to illustrate how their behavior changes with age. We also characterize the behavior of eight additional individuals with FG syndrome and this recurrent mutation in MED12 using the Vineland Adaptive Behavior Scales 2nd edition, the Reiss Profile of Fundamental Goals and Motivation Sensitivities, and the Achenbach Child Behavior Checklist. Males with this MED12 mutation had deficits in communication skills compared to their socialization and daily living skills. In addition, they were at increased risk for maladaptive behavior, with a propensity towards aggression, anxiety, and inattention. Based on the behavior phenotype in 10 males with this recurrent MED12 mutation, we offer specific recommendations and interventional strategies. Our findings reinforce the importance of testing for the p.R961W MED12 mutation in males who are suspected of having developmental and behavioral problems with a clinical phenotype that is consistent with FG syndrome.