Band 9, Heft 2-3 - Special double issue on “Adults with childhood illness” edited by J. Timothy Bricker, Hatim A. Omar and Joav Merrick

Attention-Deficit/Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder that has an onset in childhood and can persist into adolescence and adulthood. ADHD is one of several behavioral and developmental disorders that are associated with impairment in functioning across the lifespan. The assessment and treatment of ADHD highlight issues that are pertinent to the management of other developmental and behavioral disorders. Similar to other developmental and behavioral disorders, the assessment of ADHD in childhood, adolescence, and adulthood is based on integrating data from multiple sources utilizing multiple methods. Treatment involves pharmacological and psychosocial approaches. A multidisciplinary approach to assessment and treatment of developmental and behavioral disorders can ensure an accurate diagnostic formulation and the provision of effective treatment.

Adults with cystic fibrosis (CF) will soon outnumber children, thus CF is a disease that adult and pediatric physicians must understand. Adults with CF face a very difficult challenge: to have a career and/or a family while still finding the time to keep up the often demanding treatment regimen required to maintain their health in the face of a complicated multisystem disease, such as CF. It is our duty as physicians to help them meet this challenge by providing effective and compassionate care. More and more effective treatments for CF are gradually becoming available that will markedly enhance the quality of life and improve survival for patients with CF. Intelligently integrating these new therapies with existing therapies to minimize treatment burden while maximizing the benefit of these therapies to maintain lung function and prolong life is perhaps the greatest challenge we face as CF caregivers. It is a wonderful challenge to face for CF patients and their caregivers.

Incidence and prevalence of asthma have increased in recent decades with the underlying reason remaining unclear. The majority of cases of persistent wheezing and asthma begin in early childhood, which primarily defines the individual's respiratory health throughout their lifetime. Nearly half of wheezing preschoolers “outgrow” their symptoms and commonly demonstrate reduced pulmonary function early on. Their pulmonary function typically improves by age 6 years but not to the levels of normal function as seen in those children that never wheezed. Inhaled corticosteroids are the primary first-line therapy for asthma, helping physicians gain control of clinical symptoms. However, research is demonstrating that these therapies do not prevent the development of airway dysfunction later in life. In fact, asthma is now described as a risk factor for chronic obstructive pulmonary disease. Clearly, the pathogenic mechanisms have not been identified in this process, and thus research needs to target this very important topic. A combination of genetic and environmental factors is probably the cause. To impact prevalence, morbidity and mortality, research needs to address whether steroid insensitivity is playing a role or are there other physiological mechanisms playing a role.

Usually cyanotic heart defects are fatal in infancy and childhood without surgical treatment. There are rare circumstances in which a cyanotic individual can survive into adult years with reasonably good health. Prolonged survival in unop-erated cyanotic heart defect cases is dependent upon well-balanced circulation with pulmonary blood flow that is near normal but not excessive. Physicians in practice can encounter such cases in which diagnosis was missed in childhood or who had a diagnosis of a cardiac malformation but are recent immigrants from a part of the world in which surgical treatment was not possible. These unusual survivors have a different spectrum of anatomic malformations than the cyanotic defects found in newborn babies. Even with a well-balanced circulation, chronic ventricular volume overload is likely to lead to myocardial dysfunction over time. The evaluation by a cardiac team with expertise in the treatment of congenital cardiac defects in adult patients is important to long-term health and survival of the patients.

Adults with congenital heart disease can have some degree of cardiac obstruction or valve regurgitation even after repair or intervention. Because many such patients will benefit from medical therapy, catheter intervention, or surgery as adults, long-term follow-up with coordination of care between primary care providers and adult congenital heart disease specialists is important. In this review, left ventricular outflow tract obstruction, aortic valve regurgitation, coarctation of the aorta, mitral valve stenosis, mitral valve regurgitation, tricuspid stenosis, tricuspid valve regurgitation, pulmonary stenosis, and pulmonary regurgitation will be discussed from the perspective of childhood or adolescent cardiac lesion entering adulthood and the interventions and management.

Pediatric cardiac care has advanced over the past decade and many children born with heart defects have been operated and managed resulting in improvement of outcome and life expectancy. This review focuses on patients born with left-to-right shunts that survive into adulthood and we believe it is important for the adult primary care physician to realize that more and more patients with congenital heart defects will enter into their practice over the next several decades as improvements in childhood cardiac care continue to be made. Although the field of adult congenital heart disease continues to grow and advance, the number of cardiologists specifically trained in this area are not yet adequate to deal with the growing amount of patients with these conditions. This requires a concerted effort from cardiologists of both adult and pediatric specialties, but perhaps more importantly from the multitude of primary care physicians that will most probably be the only physicians many of these patients will ever see. Many adult patients born with left-to-right heart lesions underwent treatment and repair early in childhood and might not have felt it necessary to continue follow-up with a cardiologist. Many other patients with these defects might have survived to adulthood without diagnosis and could present to the primary care provider with new symptoms that finally developed. Primary care physicians will most certainly be at the frontlines of caring for these congenital heart defects.

The majority of children who are born with or who develop a chronic illness during childhood now survive into the adult years. This can present a considerable challenge to adult clinicians who might not be prepared to care for so-called pediatric disorders. This review presents concepts of transitioning for three pediatric endocrine disorders: Turner syndrome, congenital adrenal hyperplasia, and type I diabetes mellitus. Pediatricians have the responsibility of helping their pediatric patients learn to optimize their health, whereas adult clinicians must be willing to catch these older adolescents or young adults and help them deal with the challenges that their disorders present in addition to challenges complicated by adult living. A successful transition has considerable rewards for both patients and clinicians alike at both ends of the age spectrum.

Inborn errors of metabolism (IEM), also known as “metabolic diseases” are a broad group of disorders that share the feature of an abnormality, commonly an enzymatic abnormality, affecting the intermediary metabolism of proteins, carbohydrates and fats. This review provides an overview of metabolic diseases and discusses current and recent advances in diagnostic and treatment options. We provide an overview of the fundamental types of IEMs and divide them into functional categories. Using phenylketonuria as an example we will outline the history of treatment in this prototype metabolic disease and describe some of the challenges clinicians and scientists successfully embraced, and the ongoing challenges we continue to face. Improved identification and definitive diagnosis, combined with ongoing efforts to maximize treatment options has resulted in survival and reduced morbidity of IEM patients. As a result patients with IEMs are surviving into the teen years and adulthood. We expect this trend to continue, with the provision of care, hopefully well into the geriatric age groups.

A young adult male who recently turned 21 years of age has been followed by a group of pediatric kidney specialists since birth as he was born with a single dysplastic kidney. He progressed towards end stage renal disease and started hemodialysis in a pediatric inpatient center at the age of 19 years. Owing to being significantly overweight, he is not a suitable renal transplant candidate. He lives at home with his mother, who is his primary caregiver and his brother. He dropped out of school before the age of 18 years and has currently no intention to finish high school. He has short stature as he refused daily growth hormone injections in the past. During healthcare visits he has always been passive and his mother is making decisions for him. During the last several visits, he and the mother have requested initiation of transition into adult care as he feels it is now time. Both patient and mother also start to ask questions about the adult implications of his chronic kidney disease (CKD). CKD in children is somewhat complex and the implications for adults living with advanced kidney disease since childhood are significant. Optimal care of the adult patient who has been affected by advanced kidney disease since childhood requires a solid understanding of three main domains with significant overlap: (i) the underlying type of kidney disease and the multiple effects that CKD has on the body and mind of a child, (ii) the process of care transitioning from the pediatric to the adult environment, and (iii) the physical and psychosocial effects of the disease on the adult patient.

Approximately 80% of childhood cancer patients become survivors in need of long-term follow-up for the monitoring and management of residual and late-onset sequelae of their cancer diagnosis and its treatment. Late effects include any physical and/or psychological outcome that develops and/or persists beyond 5 years from the diagnosis of cancer. Childhood cancer survivors often have difficulty accepting their post-therapy health risks and their therapy-related physical and neurocognitive limitations. Parents have reported a consistently poorer health-related quality of life for their childhood cancer survivor than population controls of the same age and sex. Although late effects are frequent and can be serious for the childhood cancer survivor, the implementation of risk-based care and the education of care providers in the early recognition of long-term sequelae offers opportunity for intervention and improved outcomes. Although the pediatric oncologist remains an integral part of the survivor's care plan, the primary care physician is essential in the ongoing care of the survivor. Efforts to provide resources and educate all care providers remain an important part of the process.

As patients with genetic syndromes age new problems can arise. This review will consider six of the more common genetic syndromes likely to survive to adulthood and suggest appropriate management strategies. In this review, we will consider multiple malformation syndromes that are relatively common, likely to survive to adulthood and able to live at least partly independently. We will limit our discussion to four chromosomal malformations and two dominantly inherited disorders due to gene mutations.

Management of pediatric urologic conditions that persist into adulthood or that have long-lasting sequelae as a result of their treatment can be a complex task. Fortunately, many urologic disease processes of infancy and childhood do not persist into adulthood. For those scenarios in which significant urologic concerns continue into the later years of life, a urologist will probably be involved in the patient's care, at least for routine checks and for when major issues develop. The intent of this text, as with the rest of the manuscript, is to provide a basic knowledge and understanding of the disease processes themselves, follow-up and “what to watch for” items.

The chronic, lifelong anemias, diagnosed in childhood and extending into adult life are due to genetic defects that either affect the production and maturation of the red blood cells or that shorten the lifespan of the red blood cell and promote chronic hemolysis. In this review, various anemias and management from childhood into adulthood will be discussed.

There are few published articles about disability and women's needs during the childbearing cycle. The studies are primarily anecdotal and derived from the clinical experiences of practitioners. Medical providers in primary care settings can respond to the concerns of pregnant, disabled women by providing information, providing care in facilities that are physically accessible and psychologically supportive, and by putting in place an interdisciplinary plan of care based on a thorough assessment of physical and psychosocial needs. All women should have access to preconception, prenatal, and postnatal care. Women with disabilities are increasingly making the choice of motherhood but little is known about their pregnancy experiences. Pregnant women with disabilities are a little studied topic and are routinely included in national survey questionnaires. To improve our clinical understanding of the care that pregnant, disabled women need, more research is needed.

In children, allergic rhinitis is considered the most common chronic disease, affecting as many as 40% of the US population, an increasing trend in prevalence seen for many allergies, and is a very common encounter in everyday practice. We believe that through proper recognition and intervention, quality-of-life for the patient can be influenced by the clinician, which will result in improved outcomes in health and function. Children with allergic disease as adults certainly deserve the time and effort necessary to improve and preserve the often overlooked impaired physical and mental function associated with IgE-mediated disease. Proper history, testing, and therapeutic intervention can go a long way in improving outcomes in these patients, and in nearly all cases patients will very much appreciate efforts made.

Patients suffering from hemophilia have been affected by two recent major events. First, the advent of lyophilized factor concentrates during the 1960–1970s greatly lessened the morbidity of moderate and severe disease. Hemophilia patients were freed frequent trips to emergency rooms, prolonged hospitalizations and dependence on transfusions of blood products. Their quality of life improved and Hemophilia Treatment Centers were established throughout the US to provide comprehensive medical and psychosocial care. Second, members of the hemophilia community who had now hoped for a more normal life began to experience the opportunistic infections that were ultimately understood as the sentinel signs of AIDS. When scientists identified the human immunodeficiency virus (HIV) and its mode of transmission via plasma-derived clotting factor concentrates became evident. By 1984, 50% of all individuals with hemophilia had become infected with the HIV virus. In 1980, hemophilia life expectancy was almost 68 years of age, but declined to 49 years in the late 1980s. An entire generation of adult hemophilia patients became affected by the HIV epidemic and also the hepatitis C virus. Currently, there is a growing number of young adults with hemophilia, born after 1990, where hemophilia factor replacement therapy has proven to be safe. The risk of acquiring an infection through the use of these factors is extremely low; the last documented concentrate mediated HIV transmission occurred in 1987. The challenge remains to prevent the crippling effects of hemophilia while focusing attention on the health and wellness of these individuals.

Over the past decade we have observed an increase in life-span for people with intellectual disability (ID), which can be seen as the consequence of progress in medical technology and improved social awareness in the 20th century. In the past, most individuals with ID died at a young age due to their additional medical problems, congenital malformations and infections with the result that very few survived into adulthood or went through the aging process. This trend has resulted in not only pediatricians but now also adult physicians involved in the management of this population, and currently we, in fact, really see the first generation of aging individuals with ID, which is a challenge for service providers. Older people with ID have the same needs as other older people do and they are subject to the same age-related impairments and illnesses. Moreover, because many disabled individuals live together with their families, the burden is double because the family members are also aging and with time will not be able to continue their care-giving. Medical needs from pediatric to adult care can be met by enrollment in universal healthcare or programs. Periodic health assessments and healthcare should be normalized and provided as an overall system of support, when needed or as assistance provided for the adequate self-directed use of general or specialty health services. Risk assessments and health reviews should be part of the individual's life plan and provided to detect diseases and conditions that could compromise longevity. This field of medicine also needs to evaluate the applicability of a new discipline of lifespan developmental medicine to lead in interdisciplinary care, healthcare education, service delivery and research for people with ID within an academic framework.

Transition of the pediatric patient to an adult provider is a challenge for both patient and provider. Recognition of the role of the family in the adult with a chronic illness can be of great value to the adult provider. The initial visit on transition would be greatly facilitated if a parent accompanies their adult child to help provide the important medical history, often long and complicated, which the adult patient might be unable to provide. There are many challenges to successful transition which will be discussed.