How Are Children With Developmental Diseases and Delays Best Managed in Palliative Care?

Epidemiology of Developmental Disabilities in Children

In the United States, the prevalence of developmental disability is estimated at between 5% and 7% in childhood ( Fig. 57.1 ). For much of the 20th century, cerebral palsy was one of the most common labels given to children with cognitive and motor deficits, without much distinction made about the cause of symptoms, and there remains a high degree of variation in how this diagnostic category is applied today. Historically, there was a paradigm that an etiological diagnosis was more likely to be found among children whose delay was more severe, with milder symptoms being the result of environmental rather than biological factors. With improvements in pathological analysis, as well as neuroimaging and genetic testing, metabolic and chromosomal disorders have been recognized as a prevalent etiology for many children with developmental disabilities of mild and severe forms, especially for those with concomitant congenital brain abnormalities. Acquired, static brain injuries such as those sustained in the pre- or perinatal period continue to also account for a substantial percentage of children with developmental disability.

While many families find a diagnosis for the constellation of symptoms seen in their child, there is also a significant portion of children for whom a definitive etiology is not found. For parents of these children, the narrative is often one of an ongoing “diagnostic odyssey” in which families accumulate frustrating experiences related to dashed hopes of finding an answer and symptoms without clear etiology. Additionally, questions about possible treatment for a child’s condition are predicated on being able to first identify the condition; families without a clear diagnosis understandably hold out hope that one will eventually be found and questions about reversibility or cure can be addressed. In the absence of unifying pathophysiology, there can be a higher degree of perceived disconnect between multiple subspecialists, each of whom seems to be managing their own organ system with incomplete knowledge of the whole child. Palliative care can help bridge the gaps between disconnected subspecialists and can unify a treatment plan with a holistic view of the patient and family in focus.

Care Delivery Systems for Children With Developmental Disabilities

Children with developmental disabilities require more support systems and medical care than their peers. These additional supports, while crucial for the best care and quality of life for the child, can have implications for their caregivers. Effects on caregivers and patients can extend to many domains of life, including social, physical, financial, legal, educational, psychological, and spiritual. A caregiver may have challenges juggling all the demands that come up in each domain, especially when barriers in the care system exist in most of these areas. Overcoming barriers and being able to manage all the needs of the child may be overwhelming for caregivers and outstrip their resources without additional assistance.

The financial and economic impact on households can be significant, with loss of income and inadequate insurance coverage. Many caregivers report they have to adjust their occupation as a result of their child’s illness, while providing upward of 80 hours per week in the care of their child. Some diagnosis groups, such as autism spectrum disorder with comorbid developmental delays, have additional financial burdens and barriers to accessing financial assistance. Palliative care teams can assist in exploring financial and economic supports in the community and help advocate for caregivers.

Many children with DD need treatment from multiple specialties, which can further affect the caregiver’s employment and time requirements. The communication between multiple specialists can be challenging and can lead to delays or disjointed care. The caregiver is often the center of the communication hub to help connect the subspecialists and relay the plan between teams. The communication burden on caregivers to maintain an organized medical history, medications, treatment plans, medical supply agencies, and nursing agencies can be time-consuming and overwhelming. Palliative care teams can join with caregivers to help with the communication burden and assist in coordination between medical teams. Fig. 57.2 highlights the multiple domains requiring consideration in the care of a child with DD. With these challenges and the enormous uncertainty these families face, palliative care is primed to partner with these families to improve the quality of life of children with DD.

Trajectories of Health and Illness

The four established illness trajectories that describe common trends in pediatric serious illness are discussed in Chapter 55 , Table 55.1 . Within both progressive conditions in which treatment is exclusively directed at alleviating suffering after diagnosis and conditions involving severe, nonprogressive disability, there are many diagnoses that result in developmental impairments. There is often significant confusion among families about “static” conditions such as hypoxic-ischemic injuries and congenital brain abnormalities as compared to “progressive” diseases with anticipated losses, such as with some neurodegenerative diseases. Children with DD in both groups may live in a state of chronic fragility resulting from a lack of normal protective mechanisms, such as the inability to keep secretions out of the airway or to reposition themselves to prevent skin breakdown. Frequent hospitalizations or recurrent infections may correspond with a child getting gradually worse overall, even if their underlying disease is stable, which can be confusing for caregivers who have been told that the underlying condition is not progressive. For children with progressive conditions, this chronic vulnerability is superimposed on a trajectory of decline, though this pattern may not be readily apparent to those unfamiliar with the condition.

Respiratory problems are some of the most frequent causes of morbidity and mortality for children with DD. Impaired neurocognitive function is often associated with low oropharyngeal tone and reduced cough coordination, resulting in poor ability to clear secretions and maintain airway health. Overt swallowing dysfunction and gastroesophageal reflux, when present, can further exacerbate these problems. Children with DD who are nonambulatory are at even higher risk of developing lung infections caused by the higher incidence of impaired chest wall mechanics due to kyphoscoliosis, resulting in restrictive lung disease. Neuromuscular conditions and global hypotonia can restrict lung patterns with decreased strength of muscles normally recruited to help with breathing. While interventions directed at each of these risk factors can help to reduce a child’s chances of acute respiratory decline, the compounding presence of each risk factor adds to the probability that the child will experience chronic respiratory insufficiency with intermittent exacerbations which can be life-threatening ( Fig. 57.3 ).

Children with DD use medical technology in the home at a higher rate than their cognitively intact peers. Medical technology comes in many forms and generally compensates for the loss of a vital body function, often on a chronic basis. The most common interventions in children include feeding tubes, respiratory support (including suction devices, apnea monitors, low-flow oxygen, noninvasive positive pressure ventilation, and mechanical ventilation via tracheostomy), vascular access, and devices that allow for the removal of waste (including dialysis devices, urinary catheters, and colostomy bags). Technologies that assist with mobility, such as medical strollers, wheelchairs, and lifts, should also be considered, as there are important quality-of-life implications. Advances in medical technology have helped to prolong life in children with DD as they face serious medical illness. At the same time, tremendous impacts on the psychological well-being of both the child and the caregiver have been demonstrated with a variety of medical technologies, altering social and family dynamics, changing school participation, creating financial stressors, and significantly increasing the burden of caregiving.

The morbidity and mortality for children with DD who rely on medical technology is significant. These children have a higher incidence of prolonged hospitalizations, which can result from an increased degree of medical complexity as well as from the involvedness of coordinating care in the community. There is also a heightened sense of fragility for a child supported by medical technology, as devices often increase the risk of infection and problems with the technology can result in life-threatening consequences. Children with complex chronic conditions are increasingly dying at home, which may represent a higher frequency of planned experiences supported by community hospice or could signify more unplanned deaths occurring among children who were able to discharge home with the support of medical technology who otherwise would have remained admitted. While many families express relief that the use of medical technology allows them not to have to face the death of their child, some families readily acknowledge the manifold challenges that result from incorporating these interventions into daily life.

Pain and Symptom Management