Anna J. Esbensen

Health Conditions Associated with Aging and End of Life of Adults with Down Syndrome

Expectations for the life course of individuals with Down syndrome (DS) have changed, with life expectancy estimates increasing from 12 in 1949 to nearly 60 years of age today (Bittles & Glasson, 2004; Penrose, 1949). Along with this longer life expectancy comes a larger population of adults with DS who display premature age-related changes in their health. There is thus a need to provide specialized health care to this aging population of adults with DS who are at high risk for some conditions and at lower risk for others. This review focuses on the rates and contributing factors to medical conditions that are common in adults with DS or that show changes with age. The review of medical conditions includes the increased risk for skin and hair changes, early onset menopause, visual and hearing impairments, adult onset seizure disorder, thyroid dysfunction, diabetes, obesity, sleep apnea and musculoskeletal problems. The different pattern of conditions associated with the mortality of adults with DS is also reviewed.

Long-term Impact of Parental Well-Being on Adult Outcomes and Dementia Status in Individuals With Down Syndrome

Parental characteristics were significant predictors of health, functional abilities, and behavior problems in adults with Down syndrome (n  =  75) over a 22-year time span, controlling for initial levels and earlier changes in these outcomes. Lower levels of behavior problems were predicted by improvements in maternal depressive symptoms. Higher levels of functional abilities were predicted by prior measures of and improvements in maternal depressive symptoms. Better health was predicted by prior measures of maternal depressive symptoms, paternal positive psychological well-being, relationship quality between fathers and their adult children, and improvements in maternal positive psychological well-being. Dementia status was also predicted by parental characteristics. The study suggests the importance of the family context for healthy aging in adults with Down syndrome.

Families of Individuals with Intellectual Disability and Comorbid Mental Health Problems.

This review focuses on the families of individuals dually diagnosed with intellectual disability (ID) and comorbid mental health problems. The review examines the impact of caring for individuals with ID and comorbid mental health problems on family well-being, the impact of the family on these individuals, and intervention and support needs of these families. There continues to be a strong need for additional research on and education for families of individuals with ID and comorbid mental health problems. Research limitations and directions for research and practice are also reviewed.

Outcome Measures for Clinical Trials in Down Syndrome

Increasingly individuals with intellectual and developmental disabilities, including Down syndrome, are being targeted for clinical trials. However, a challenge exists in effectively evaluating the outcomes of these new pharmacological interventions. Few empirically evaluated, psychometrically sound outcome measures appropriate for use in clinical trials with individuals with Down syndrome have been identified. To address this challenge, the National Institutes of Health (NIH) assembled leading clinicians and scientists to review existing measures and identify those that currently are appropriate for trials; those that may be appropriate after expansion of age range addition of easier items, and/or downward extension of psychometric norms; and areas where new measures need to be developed. This article focuses on measures in the areas of cognition and behavior.

Does Congenital Heart Disease Affect Neurodevelopmental Outcomes in Children with Down Syndrome

OBJECTIVE The impact that congenital heart disease (CHD) has on the neurodevelopment of children with Down syndrome (DS) is unknown and potentially has implications for targeted early intervention. This study assessed the relationship between CHD that required surgery in the first year of life and neurodevelopmental, behavioral and emotional functioning outcomes in children with DS. METHODS A retrospective chart review of 1092 children (0-18 years) with DS who visited a single institution from 8/08-8/13 was performed. Children who underwent at least one of nine neurodevelopmental (cognitive, language, developmental) or academic tests were included in the analysis (N = 178). Cohort was age-divided into infants/toddlers (0-2 years), preschoolers (3-5 years), and school age/adolescent (6-18 years). Test scores of children with DS who underwent cardiac surgery in the first year of life were compared to children with DS without CHD. T test, chi-square and Mann Whitney U tests were used where appropriate. RESULTS Infants/toddlers with cardiac surgery had lower scores for receptive (P = .01), expressive (P = .021) and composite language (P < .001) compared to those with no CHD. Preschoolers with cardiac surgery had lower language scores and lower visual motor scores, although not statistically significant. In school age children with cardiac surgery there were no differences in IQ scores, language scores, or academic achievement scores compared to those without CHD. Also at school-age there was no difference in the incidence of ADHD, executive function or on internalizing and externalizing behavior scores. CONCLUSION Children with DS undergoing cardiac surgery during the first year demonstrated poorer neurodevelopmental outcomes as infants/toddler but had no difference at school age compared to children with DS without CHD. These results will guide early interventions to optimize neurodevelopmental outcomes in children with DS and will help with family counseling after CHD repair.

Behavior and Adaptive Functioning in Adolescents With Down Syndrome: Specifying Targets for Intervention

Adolescents with Down syndrome can demonstrate increased behavior problems as compared with typical peers. Few studies have explored whether behavior impacts adaptive functioning. Caregiver report from the Behavioral Assessment System for Children, 2nd Edition (BASC-2; Reynolds & Kamphaus, 2004) and the Child Behavioral Checklist (CBCL; Achenbach, 2001) was collected for 52 adolescents (24 males). Participants were most frequently rated as having problems with inattention and social withdrawal. Attention problems accounted for a significant proportion of variance in Activities of Daily Living (R2Adj = 0.30), Leadership (R2Adj = 0.30), Functional Communication (R2Adj = 0.28), Adaptability (R2Adj = 0.29), and Social Skills (R2Adj = 0.17) on the BASC-2. Convergent validity between the CBCL and BASC-2 was limited. Findings inform the clinical utility of the BASC-2 and CBCL in this population. Improved specification of behavior will facilitate targeted intervention, thus improving outcomes for individuals with Down syndrome and their families.

Cognitive Behavioral Therapy for Depressed Adults With Mild Intellectual Disability: A Pilot Study

There is a paucity of research on psychosocial treatments for depression in adults with intellectual disability (ID). In this pilot study, we explored the efficacy of a group CBT treatment that involved a caregiver component in adults with mild ID with a depressive disorder. Sixteen adults with mild ID and a depressive disorder participated in a 10-week group CBT treatment and eight adults with mild ID with a depressive disorder served as a treatment as usual (TAU) control group. Adults with mild ID and caregivers completed measures of depressive symptoms, behavior problems, and social skills at pretreatment, posttreatment, and a 3-month follow-up. Adults with mild ID also completed a series of tasks to measure their understanding of the principles of cognitive therapy pre- and posttreatment. The CBT group demonstrated significant decreases in depressive symptoms and behavior problems from pretreatment to posttreatment and these effects were maintained at a 3-month follow-up. The CBT group demonstrated significant improvements in their ability to infer emotions and thoughts based on various situation-thought-emotion pairings from pretreatment to posttreatment. Findings indicate that adults with mild ID with a depressive disorder benefitted from a group CBT treatment with a caregiver component. Moreover, adults with mild ID appeared to benefit, at least in part, from the cognitive therapy components of the treatment, in addition to the behavior therapy components.

Psychotropic Medication Use in Children and Adolescents With Down Syndrome.

Objective: To estimate the rate of psychotropic medication use in children and adolescents with Down syndrome (DS) and to describe age-related trends. Methods: Data were obtained from electronic health records from 2010 to 2013 for a retrospective cohort of 832 children with DS, aged 5 to 21 years, including 5324 visits. The following medication classes: central nervous system (CNS) stimulants, selective serotonin reuptake inhibitors, atypical antipsychotics, and alpha adrenergic agonists were examined. The distribution of rates of medication use across ages was assessed graphically and with the Cochran-Armitage trend test. Between-group comparisons of medication classes were conducted using &khgr;2. Repeated measures models with generalized estimating equations were used to assess changes in rates of medication use over time. Results: Children aged 12 to 21 years were more likely to be on any medication at some point compared with children aged 5 to 11 years (25% vs 17%, respectively, p = .003). For 5 to 11 year olds, the odds of being on a psychotropic medication increased with age for all medication classes studied. For 12 to 18 year olds, the odds of being on a CNS stimulant significantly decreased with increasing age (odds ratio: 0.73, 95% confidence intervals, 0.58–0.91), whereas the odds of being on a medication from one of the other classes was stable. Conclusion: Changes in psychotropic medication use across the age span in children with DS suggest that the type and severity of neurobehavioral problems in this population likely also change over time. These findings will inform future research on the common mental health conditions and treatments for children with DS.

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines

Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) has developed criteria for prioritizing conditions of public health importance with the potential for providing screening recommendations to improve clinical care. The quality of existing evidence needed to inform clinical guidelines has not been previously reviewed. Using the National Library of Medicine (NLM) database PubMed, we first identified 18 peer reviewed articles that addressed co‐occurring medical conditions in adults with DS. Those conditions discussed in over half of the articles were prioritized for further review. Second, we performed detailed literature searches on these specific conditions. To inform the search strategy and review process a series of key questions were formulated a priori. The quality of available evidence was then graded and knowledge gaps were identified. The number of participating adults and the design of clinical studies varied by condition and were often inadequate for answering all of our key questions. We provide data on thyroid disease, cervical spine disease, hearing impairment, overweight‐obesity, sleep apnea, congenital heart disease, and osteopenia‐osteoporosis. Minimal evidence demonstrates massive gaps in our clinical knowledge that compromises clinical decision‐making and management of these medically complex individuals. The development of evidence‐based clinical guidance will require an expanded clinical knowledge‐base in order to move forward.

Use of Sleep Evaluations and Treatments in Children with Down Syndrome.

Objective: To characterize practice patterns regarding sleep evaluation and intervention among children with Down syndrome (DS). Method: Data were obtained from electronic health records from 2009 to 2013 for a retrospective cohort of 954 children with DS, aged 5 to 21 years during the time sampled. International Classification of Diseases, Ninth Revision, diagnoses were used to identify children with obstructive sleep apnea and/or behavioral sleep disturbances. Primary outcomes were confirmed by participation in an overnight diagnostic polysomnography (PSG) and/or documented provision of specified sleep interventions including positive airway pressure, otolaryngology (ENT) surgery, sleep medication, and behavioral sleep therapy. Results: Overall, 47.7% of children with DS had undergone PSG, 39.1% had diagnosed sleep problems, and of those diagnosed with sleep problems, 81.2% had received sleep intervention. Consistent with best practice clinical care, sleep treatments matched the diagnosed sleep problems. Age, gender, and race, but not body mass index (BMI), were associated with PSG completion rate and occurrence rates for ENT surgery and sleep medication usage. BMI was associated with obstructive sleep apnea. Conclusion: Despite high rates of reported sleep problems in children with DS, less than half underwent PSG. Children diagnosed with sleep problems received treatment consistent with their sleep diagnosis. However, age and gender were associated with differential rates of treatment delivery that was incongruous with prevalence rates for diagnosed sleep problems. These findings underscore the importance of screening for sleep problems in children with DS, and referring for and providing appropriate targeted sleep interventions.