Down syndrome is the most common chromosomal abnormality among liveborn infants and is the most frequent chromosomal cause of intellectual disability (Frid, Drott, Lundell, Rasmussen, & Anneren, 1999). It is a multisystem disorder, characterized by various congenital defects, organic disorders, dysmorphic features, and other health-related problems (Roizen & Patterson, 2003). The heart is affected frequently and the association between Down syndrome and congenital heart disease was already recognized by Garrod in 1894 (Richards, 1965). Although a critical region on chromosome 21 as well as several candidate genes has been proposed, the genetic basis and pathogenesis of congenital heart defects in Down syndrome remain largely unknown. Cardiovascular disorders related to Down syndrome are numerous. Here, we review prenatal screening, intrauterine interventions, and management of congenital heart defects in early childhood. Moreover, we discuss cardiovascular manifestations in adulthood, in particular pulmonary arterial hypertension and cardiac surgery in adults with Down syndrome.
Advances in general medicine, in particular antibiotics and pediatric cardiac surgery, have dramatically increased survival and longevity for individuals with Down syndrome. Studies focused on identifying their specific healthcare needs have led to screening and preventative healthcare programmes. However, it is argued that reviews of the increased likelihood of a range of illnesses can be both frightening and not practically helpful to parents. Many children with Down syndrome are as healthy as their siblings. Individuals with Down syndrome vary widely on all family, health, and development characteristics and, as yet, the health data does not reflect these differences when discussing risk. Researchers are urged to think carefully before writing and presenting data, checking its validity in the real world, and recognizing parents will be in the audience. There is still a need to inform healthcare professionals of the potential of individuals 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.
Reviewing large-scale, population-based studies, this chapter summarizes three health outcomes for young children with Down syndrome: (1) adverse birth outcomes (e.g., prematurity, low birthweight); (2) in-patient hospitalizations; and (3) early mortality. Prematurity and low birthweight occur several times more often among newborns with (vs. without) Down syndrome, and account for 14-25% of all newborns with the syndrome. From 1/2 to 3/4 of these infants experience nonbirth hospitalizations within their first 3 years, most beginning during their first year. Those infants with congenital heart defects experience hospitalization more often, earlier, and for longer periods; respiratory problems constitute the main reason for hospitalizations among children with (and without) heart defects. Newborns with Down syndrome die before their first birthday from 4 to 24 times more often than other newborns; congenital heart defects, African American mothers, and prematurity are the major risk factors. Future studies need to identify child, parent, and family risk factors for early health outcomes, tie health outcomes to medical services, and determine the influence on early health of pollution and other environments. Better data and data-linkage are also needed. With an expanded research base, physicians will be able to provide more precise anticipatory guidance to parents, early interventionists, and others who care for young children with Down syndrome.
Background: School-aged children with Down syndrome experience an array of medical conditions and health care problems. Although there have been vast improvements in the medical management of these conditions, they still significantly impact on quality of life for families and children with Down syndrome. However, despite the magnitude of this problem limited literature has described the overall health status of children with Down syndrome. Aim: The purpose of this review was to describe the medical conditions commonly experienced by school-aged children with Down syndrome and to consider the clinical implications of this knowledge. Methods: Electronic searches of Medline, CINAHL, and PsychINFO and manual searches of reference lists identified relevant articles from 1990 to 2009. Studies were included if the topic involved one or more medical comorbidity and participants were children aged 18 years or younger with a diagnosis of Down syndrome. Articles were excluded at the title or abstract level if they were not peer-reviewed, in a language other than English, or did not meet the inclusion criteria. A narrative review of this research was possible. Results: Common medical conditions experienced by school-aged children with Down syndrome include: heart disease; respiratory problems; gastrointestinal disorders; obesity; ophthalmological, ear, and hearing problems; musculoskeletal problems; leukemia and thyroid conditions; frequent infections; and dental disease. Prevalence estimates for these conditions varied depending on the diagnostic criteria or study methodologies.
The overall incidence of cancer in children and adults with Down syndrome (DS) appears the same as in the general population. The distribution of tumor types, however, is markedly different. The risk for leukemia in children with DS is 10-20-fold higher than in children without DS. In contrast, solid tumors both of childhood and adult age are markedly less frequent in people with DS. Leukemia is the predominant type of cancer in DS. In children with DS under the age of 5 years, acute myeloid leukemia (AML) is approximately 150-fold and acute lymphoblastic leukemia (ALL) approximately 40-fold more common than in the general pediatric population. The leukemic cells of AML in DS commonly have a platelet precursor phenotype and harbor somatic mutations of the hematopoietic transcription factor GATA1. AML cells of children with DS show increased sensitivity to some chemotherapeutic agents such as cytarabine. Event-free survival (EFS) rates after treatment for AML in DS range between 70 and 90% and are significantly higher than for non-DS children with AML. Newborns with DS in 10% of cases develop a transient leukemia which typically resolves after the first months of life without treatment. Approximately 20% of infants with transient leukemia, however, go on to develop AML later in life. ALL in children with DS is considered the same disease as in the general pediatric population. After treatment outcomes in the past lagged behind that for children without DS, currently the success rate of treatment for ALL in DS is now considered comparable to that for non-DS ALL. The risk for severe adverse events during treatment, specifically life-threatening infections, is increased in children with DS and ALL. Increased expression of the gene CRLF2 (cytokine receptor-like factor 2) and activating mutations of JAK2 have been recently identified as more frequently associated with ALL in DS. The incidence of most solid tumors of childhood and adult age has been found to be significantly lower in individuals with DS. Although the mechanisms underlying both the increased frequency of leukemia and the decreased incidence of solid tumors in DS remain to be determined, intriguing hypotheses have been proposed.
This chapter aims to review the evidence available for dementia in those with Down syndrome focussing particularly on the diagnosis and screening for dementia in this population. Down syndrome is the most commonly recognized genetic cause of intellectual disability. As life expectancy for an individual with Down syndrome has increased so has the incidence of dementia particularly of Alzheimer's type in this group. The prevalence of dementia in the population with Down syndrome increases with age and has been found to be as high as 75% for those over 65 years. The development of dementia of Alzheimer's type is frequent but not inevitable. Research has shown that virtually all adults with Down syndrome over 35-40 years have neuropathological changes characteristic of Alzheimer's dementia including beta-amyloid plaques and neurofibrillary tangles. The genetic locus for the amyloid precursor protein (APP) has been identified on chromosome 21. As 95% of cases of Down syndrome are caused by trisomy 21, this may explain the vulnerability of people with Down syndrome to developing dementia. Other factors such as apoplipoprotein E (APOE) status and the low cognitive reserve of those with an intellectual disability may be important in the development of dementia. Dementia is more difficult to diagnose in this population as the clinical features may present differently from those without an intellectual disability. Memory loss, loss of function, and behavioral changes are common early features. Symptoms associated with frontal lobe impairment such as apathy, slowness in speech and activities are also early manifestations of dementia in adults with Down syndrome. Ideally individuals with Down syndrome should be screened for signs of dementia from before the age of 35. The development of reliable screening and diagnostic tools has been difficult but there are now a number of valid tools (Dementia Screening Questionnaire for Individuals with Intellectual Disabilities DSQIID, Deb, Hare, Prior, & Bhaumik, 2007b) that can be used. There is also a role for neuropsychological testing and neuroimaging. Important differential diagnoses include hypothyroidism, depression, and sensory impairment. There is a lack of good evidence for the use of anti-dementia medication in this population with only one small-scale RCT on donepezil showing a nonsignificant improvement (Prasher, Huxley, & Haque, 2002). There is also a lack of evidence for the use of non-pharmacological interventions such as reminiscence therapy. The management of dementia in this population should be a multidisciplinary approach involving the individual and their caregivers in the process. The aim of management should be to support functioning and prevent further deterioration as long as possible, and provide support for family.
This chapter reviews the research examining the demographic and socioeconomic characteristics of families of children with Down syndrome as well as how Down syndrome and other disabilities impact the economic situations of families. Two consistent demographic patterns are found. First, parents of children with Down syndrome on average are older than parents of other children. Second, families of children with Down syndrome are more likely to have social advantages in terms of parental education, income, and race/ethnicity status relative to families of children with other intellectual or developmental disabilities, consistent with a "Down syndrome advantage." In addition, most US studies find that live-born infants with Down syndrome are more likely to be born to Hispanic parents and less likely to have a Black or African American parent than other infants. Financial impacts on families with a child with disabilities such as Down syndrome can result from high out-of-pocket expenditures and reduced parental employment and earnings. Studies differ in terms of specific results as to whether employment effects of child disability are greater among two-parent or one-parent families and whether fewer mothers of children with disabilities are in the paid work force or part-time employment is substituted for full-time employment. Reductions in maternal employment appear to be a function of the severity of the medical condition or disability and the time requirements for care. As children age, the effect of child disability on current maternal employment appears to decline, but a permanent reduction in earnings capacity and household savings can result from altered career trajectories. Many families of children with disabilities experience financial stress, in part as a result of underinsurance. Public programs, notably Supplemental Security Income (SSI) benefits, can help to buffer the financial impact of caring for a child with a serious disability.
Communicative interactions provide the foundation for cognitive and social development early in life and continue to impact our behaviors, social patterns, and thoughts throughout our lives. Expressive and receptive exchanges are essential to communication, and hearing is an essential part of all spoken communicative attempts. For individuals who use spoken communication, maximizing auditory ability is imperative. This is especially true for those with Down syndrome as they are susceptible to expressive and receptive communicative difficulties and vulnerable to auditory disorders. Hearing loss can interfere with a child's ability to develop spoken language and influence subsequent academic and psychosocial development. Even children with mild hearing loss can experience greater academic difficulty than their peers with normal hearing. The early effects of hearing loss on academic and social development can remain throughout adulthood. Though individuals with Down syndrome are prone to hearing loss, the effects can be lessened with accurate and early identification when accompanied by appropriate ongoing medical and audiologic management. It is important for all those involved in the lives of children and adults with Down syndrome to recognize the auditory barriers that are likely to exist and to remain diligent in their efforts to seek ongoing otologic and audiologic care. This review discusses typical development of the human auditory system and what is known about the structure and function of the auditory systems of individuals with Down syndrome. In addition, we describe behavioral and physiologic assessments of auditory sensitivity and conclude with a discussion of hearing technology options for individuals with Down syndrome and hearing loss.
With increasingly effective medical interventions for congenital heart disease and leukemia, more individuals with Down syndrome (DS) are living into adulthood and old age. To enable children and adults with DS to be healthy and able to function well and live life fully, we need to be knowledgeable about the plethora of medical problems that are possible. In individuals with DS, each system has the potential of some or several types of medical problems that may require constant surveillance such as celiac disease or monitoring such as thyroid disease. These disorders may be more prevalent at different ages, such as arthropathy of DS, or constantly a potential issue, such as atlantoaxial subluxation. This chapter describes by system the multitude of potential medical problems that individuals with DS have an increased chance of developing at different ages.
Though families are considered the primary provider of support to people with intellectual and developmental disabilities (I/DD), only a small amount of I/DD funding in the United States goes toward offering assistance to these families. In addition, formal interventions typically target families of children with I/DD, which are no longer available when the individual enters adulthood. This chapter reviews the literature on family support interventions for families caring for adults with I/DD. It first examines the impact of lifelong caregiving and the support needs of these families. It then draws attention to various interventions currently available for these families, including systemic federal and state family support public policies (such as cash subsidies, and consumer-directed supports), as well as group level psychosocial interventions (such as support groups, future planning interventions, and support coordination). The review calls attention to the need for more intervention research that is methodologically sound and that addresses not only the perspective of parents but also that of other family members (such as siblings) and the person with disabilities.
Our core argument is that an inclusive approach is required to maximise the health and well-being of persons with intellectual disabilities. For the individual, this means redefining health holistically and not as the absence of illness. Family carers and support staff need to work proactively with empowered individuals in pursuit of healthier lifestyles. Likewise at a national level, public health policy and health promotion strategies need to include the particular challenges faced by persons with disabilities if the latter are to fully share in achieving health gains.The chapter has four main sections. We consider: (1) how health is central to personal development and fulfillment; (2) recent evidence about health and intellectual disabilities, noting specifically findings from studies that have moved away from an over-reliance on biological health; and (3) the emerging interest in finding optimal ways to produce health gain. Finally, (4) we note promising strategies to pursue in the three domains of practice, policy, and research related to health and lifelong development of persons with intellectual disabilities. We conclude that the gains of an inclusive focus on health are for everyone.
In this chapter, we review research on families of Asian descent who are caring for family members with intellectual and developmental disabilities (IDD). Our review includes research conducted in Asia as well as research on Asian immigrants in the United States and United Kingdom. This pan-ethnic group is of particular importance because Asia is the largest continent in the world, and Asians represent one of the largest immigrant groups to the United States and Western Europe. We review research within a cross-cultural stress and coping model that includes unique environmental and cultural contexts. We also examine the process of acculturation and differing experiences of Asian immigrant families with respect to the stress and coping model. We identify areas in which future research is needed to flesh out our knowledge about stress and coping among Asian families. Overall, our findings reveal a rich cultural mosaic of Asian families and their experiences.
In 2006, it was estimated that China has approximately 83 million individuals with disabilities, which is about 6% of the general population. However, little is known about the families of these individuals. This chapter provides an overview of literature on family research in the People's Republic of China. Only 16 peer-reviewed studies in both English and Chinese were found for this review. The paramount need of Chinese families of children with developmental disabilities is access to free and public education. More empirical studies are needed to assist policy makers in developing educational and social service infrastructure to effectively serve these individuals with disabilities.
Maternal responsivity, or the ways in which mothers provide for, interact with, and respond to their children, helps to shape their children's development, including language development. In this chapter, we describe maternal responsivity as a multilevel construct with different measures appropriate for each level. Molar responsivity refers to aspects of interaction style such as affect that can best be measured with rating scales. Molecular responsivity refers to contingent maternal behaviors that occur in response to child behaviors; and are best reflected by the frequencies of occurrence of these contingent behaviors. Results of many studies have demonstrated that both molar and molecular responsivity are related to important child outcomes such as language development. Children of more responsive mothers tend to have better outcomes. Based on these findings, interventions aimed at improving maternal responsivity and thereby child language outcomes have been developed and investigated through a number of studies. Results have shown positive outcomes for maternal responsivity and lesser secondary benefits to child language outcomes. Some of the qualities that appear associated with better outcomes include timing the interventions to co-occur with specific developments in child behaviors, teaching over a span of approximately 10-12 sessions, and designing lessons to be culturally sensitive to individual families.
In this chapter, we argue for the increased use of large-scale databases to examine families of individuals with disabilities. To date, three main approaches have been employed. First, researchers have analyzed data from among the wide array of national surveys that have been supported by the National Institutes of Health (NIH), Centers for Disease Control and Prevention (CDC), US Census Bureau, Department of Education, and other (mostly federal) agencies. In the second approach, national Vital Statistics records have been examined, including information about all of the United States' births or deaths in a particular calendar year. In the third approach, examinations have been more targeted to all families of children or adults with disabilities residing in a particular city, state, region, or area. Though each has its own strengths and weaknesses, all three large-scale approaches can address many questions about families of children and adults with disabilities. We end this chapter by providing two examples of how we have used Tennessee administrative data sets to answer questions about the structure and characteristics of families of children with Down syndrome; we also discuss continuing issues concerning the use of large-scale databases to tell us about the nature and functioning of families of individuals with disabilities.
Much of our understanding of families and parenting of children with intellectual disabilities (ID) reflects the thoughts, beliefs, attitudes, and behaviors of mothers with relatively little focus on the ways in which fathers contribute to and are affected by this unique context. In this chapter, we address the importance of fathers as a source of critical developmental influence, and contrast fathers and mothers of children with ID along three important dimensions of parent functioning (stress, well-being, and interactive behavior). The contrasts explore the developmental trajectories of these parenting constructs over time from the perspective of an emerging new complexity in conceptual models of family and parent adaptation. Data from the Collaborative Family Study are used to explore paternal and maternal stress, well-being, and behavior across the preschool through transition to school-age developmental period, and findings are discussed within the context of the broader literature in each area.
The transition to adulthood is a potentially formative period of the life course for individuals with intellectual disability. In this investigation, we examined the transition using traditional criteria for launching and role functioning and also explored how the concept of emerging adulthood applies to young adults who have intellectual disability. The targets were 140 young adults (ages 18-33 years, mean = 24 years) who participated in a long-term follow-up of a longitudinal investigation of family and child development for children with mild and moderate intellectual disability. Overall, there was limited evidence of launching and financial independence for the young adults, with most living with parents and few able to support themselves financially. As expected, greater progress toward independence occurred for individuals with mild as opposed to moderate intellectual disability. However, relatively few adult outcomes were predicted by childhood behavior problems, and there were few gender differences. Despite this situation, most of the parents reported that the target individual had "reached adulthood" and, similar to normative samples, they focused on criteria for adulthood that emphasized independent thought and free choice over role transitions and financial independence. The findings suggest an expanded view of emerging adulthood for individuals with intellectual disability who are transitioning into adulthood characterized by interdependence rather than independence.
Publisher Summary This chapter introduces special education and social services in Korea. It provides background information and national statistics of Korea. The chapter discusses the history of Korean special education and social services followed by the current status of special education and family services. This country has provided various legal grounds and educational systems to better serve more individuals with disabilities. The development plan covers four broad categories related to the well-being of individuals with disabilities and their families: welfare, education and culture, economic activities, and social participation. The purpose of the plan is to enhance well-being of individuals with disabilities and their families to the similar level in advanced countries by improving the quality of life, expanding the scope of social participation, and pursuing an inclusive society. Regarding special education, the plan emphasizes promoting inclusive educational environments. Statistics on individuals with disabilities, delivery of special education service, and social services are discussed with a review of the related legal establishments and existing research. Finally, implications and future directions are discussed for Korean special education and social services.
Research during the past 20 years on families of children with developmental disabilities has yielded a rich body of knowledge about the stress of parenting a child with DD, and the risk and protective factors that result in profiles of family resilience vs. vulnerability at various stages of the family life course. Virtually all of this research has been based on data collected from self-report measures, and has focused on family interactions and relationships, and the psychosocial well-being of individual family members. The present chapter focuses on different sources of data, namely biomarkers, which have the potential to extend our understanding of the biological mechanisms by which the stress of parenting a child with developmental disabilities can take its toll on parents' physical and mental health. We focus on two examples: (1) variations in the FMR1 gene, FMRP, and FMR1 messenger RNA in mothers of children with fragile X syndrome and the association of these measures with maternal depression and anxiety; and (2) profiles of cortisol expression in mothers of children with disabilities and the association of cortisol with daily measures of caregiving stress.
