Unique Characteristics of Autopsies in the Pediatric Age Group

The description of the characteristics of autopsy in the pediatric age group, including consent process, objectives, and perspective of families and physicians about the procedure, is more complex than that for adults. Whereas the attributes of this procedure in adolescents and young adults may be very reminiscent of those in older adults, there are unique characteristics associated with this procedure in younger children, especially in neonates and infants. A competent review of some of the issues surrounding autopsies in children is available.⁶ Unlike past times when childhood mortality accounted for most deaths within the community, the advances of modern medicine have transformed the death of a child into an uncommon event, at least in developed countries. The unexpected death of a child commonly brings upon parents or relatives the feeling of guilt or blame, which is generally unjustified. After all, the rearing of children in modern societies is so dependent on parents or guardians that the death of a child is commonly attributed to direct or indirect fault of an adult. The death of a child, particularly at an early age, can commonly raise concerns among families about genetic disorders and/or predispositions, which may have caused or contributed to the child’s demise. The latter issue is of particular importance for parents who are still of their reproductive age and information obtained during autopsy may help their decision making about having additional children. In all the situations previously described, the results of the autopsy may be helpful for families, whether or not the procedure is able to confirm the cause and contributing factors of the child’s death. Finally, sometimes the death of a child is unexpected and cannot be attributed with certainty to any specific cause. In that case, an autopsy may be required for forensic reasons to ascertain the cause of death, such as in cases of sudden infant death syndrome (SIDS).

The Consent to Autopsy

There is extreme variability in the logistical issues associated with the consent to autopsy, which are dependent on the following factors:

The consent to autopsy generally starts after the child’s death. However, it is not uncommon for an autopsy to be discussed before death along with other end-of-life issues in chronically ill children or when death is expected. In fact, physicians or parents may raise this issue long before the child’s death. Although the issue of autopsy may be discussed beforehand, the formal consent to autopsy is invariably signed after death, except in states or regions that permit signing the consent before death. Because there are regulations regarding the body’s disposal, the consent to autopsy in fact allows for the release of the body for the procedure.

The consent to autopsy usually takes place in face-to-face meetings between families and healthcare providers when children die in the hospital or at home. However, the consent to autopsy may occasionally need to be obtained via telephone conversations, particularly for children who die at home. In a 2009 report, researchers prospectively contacted by telephone the parents of children who died unexpectedly in order to obtain consent for research imaging studies during autopsy.¹² Parents were approached by a senior family liaison experienced in dealing with bereaved families. Thirty-one of 32 families contacted by telephone consented for the procedure. It is common now for families to pursue specialized care for their children far from home. In this setting, face-to-face meetings with the primary care team may not be feasible. Consent to autopsy may need to be obtained over the telephone in such circumstances. However, it is important to emphasize that regulations within the jurisdiction where the child died will dictate if telephone consent is permissible; and requirements for autopsy consent obtained over the telephone may vary. In my institution, we recommend that a witness listen to the consent on an interconnected line or confirm permission for the procedure by communicating directly with the person who provided the consent. The person obtaining the consent should go over all the information contained in the autopsy consent form and fill out the information about the person providing the consent including name, address, relationship to the deceased child, and telephone number called. In my experience, the consent to autopsy obtained over the telephone worked well when death was expected and a good support system, such as hospice, was already in place. In particular, a local healthcare team member such as the hospice nurse may provide essential guidance so that consent is done at the appropriate time and in the least intrusive way to grieving families.

Most commonly the consent process and the topic of autopsy is led by a physician whose practice is hospital-based. However, the consent to autopsy can certainly be raised by other healthcare providers who are knowledgeable about autopsy process and can adequately address the questions and concerns raised by families.

The individual who is legally allowed to give autopsy consent is generally the person assuming custody of the child’s body for burial. Next of kin and the person authorized to consent to autopsy are dictated by the law in the jurisdiction where the child died. In the absence of any of those options, the consent to autopsy may need to be obtained from a representative of governmental agencies charged by law with the responsibility for burial. However, I have witnessed situations where the determination of the person who should be able to provide consent to autopsy was not straightforward. For example, a deceased child had been under state custody. The state’s representative relinquished the consent decision to the child’s biological parent. I have also raised the issue of autopsy with parents who were separated, divorced, or never married. In these cases, unless both parents had already reached an agreement, the decision to consent to autopsy should rely on the child’s primary caregiver. Irrespective of the legal status of their relationship, I have not pursued consent to autopsy for my patients when there was a disagreement among parents about the procedure. Guidelines for introducing the topic of autopsy are shown in Box 25-1.

Legal Aspects of Autopsy

Healthcare providers need to be knowledgeable and prepared to address multiple legal issues when consenting or performing autopsies in children. Because the legal requirements for autopsy consent vary among different countries, regions, or states, it is important to know the laws applicable both where the death occurs and where the autopsy takes place. Some countries, for example, allow autopsies to be done without consent for medical, scientific, or educational reasons.³ The legislation associated with autopsy may also vary over time. A 2002 survey provided examples of inconsistencies over time of legislation pertaining to tissue retention at autopsy in different countries.¹³

It is critical that a proper consent process be followed, which must include:

Practical issues associated with the consent process have been previously addressed.

The form used to obtain autopsy consent needs to provide details about the type of autopsy to be done, such as complete or limited to particular areas or organs, and whether tissue retention is requested. The examiner can be liable for failure to obtain consent to autopsy or failure to comply with the scope of the consent to autopsy.¹⁴

Two incidents in the United Kingdom, one at the Bristol Infirmary Hospital and the other at the Alder Hey Hospital, highlight the importance of clear disclosure of tissue retention to families.¹⁵ Both incidents, which resulted from inappropriate retention of body parts of deceased children without parental consent, generated enormous controversy and resulted in a large public backlash against pediatric autopsies in the United Kingdom. Therefore, it is imperative that autopsy consent forms contain a request for tissue retention for additional studies, and for research and educational purposes. The consent form also must include contingency plans to return body parts to families, if necessary.

As a result of the incidents described, the law for tissue retention after autopsy has been changed in the United Kingdom by the approval of the Human Tissue Act of 2003.¹⁶ The Act declared lawful only the post-mortem retention of body parts done with appropriate consent. Failure to obtain appropriate consent to retain body parts is considered a criminal offense with specified penalties. However, this law is not applicable to coronial cases, which constitute the majority of autopsies in the United Kingdom. A similar law, the Human Tissue and Anatomy Legislation Amendment Act of 2003, was also approved in New South Wales, Australia.¹⁶ The Australian law dictated that retention of human tissue after post-mortem examination of a child could be done only upon consent from a senior available next of kin. Human tissue was defined as organs or body parts and excluded small samples, such as slides and blood smears, which are routinely retained as part of the standard goals of the autopsy. Identical to the law in the United Kingdom, this new legislation applied only to non-coronial cases.

Unlike the United Kingdom, organ retention is regulated under state, not federal, law in the United States.¹⁶ No uniform national legislation has been instituted to regulate organ retention after autopsy, and the judicial authorities in the different states have not reached a consensus about this issue. With few exceptions, most of the state statutes do not address the retention of body remains whether the autopsy is performed after consent from next of kin or if it is mandated by the state.¹⁶ Organ retention in the United States is regulated under the common law, which as a general rule considers that the survivors of the deceased have no property rights over the human body or its parts. Therefore, the courts have generally not imposed liability over unauthorized tissue and/or organ retention after autopsy in the United States, except in cases where there was no consent to a general autopsy at all.

It is also critical for the pathologist performing the autopsy that the body be identified by someone familiar with the child, or by appropriate means of identification, such as a wristband with the child’s name.

Finally, most jurisdictions authorize autopsies when the death of a child younger than 18 years is traumatic, unexpected, obscure, suspicious, or otherwise unexplained. The American Academy of Pediatrics (AAP) has set recommendations to perform a complete autopsy in such cases, including cases suspicious for SIDS.¹⁷ Complete autopsy consists of external and internal examination, microscopic examination, removal and examination of the eyes, and toxicologic, microbiologic, and other pertinent studies. The AAP recommendations for unexplained deaths apply even to children with chronic conditions. As described before, it is imperative that the examiner be familiar with the law because some states in the United States allow exceptions for autopsies in unexplained deaths when this procedure is believed to be contrary to the religious beliefs of the decedent.¹⁴

Logistics of Autopsy

The description of a standard autopsy is outside the scope of this review. A 2007 study reviewed alternative methods of performing an autopsy, including minimally invasive procedures and verbal autopsy.³

There are preparations that need to take place in order to have an autopsy done. In my experience, parents or legal guardians greatly appreciate if they do not have any involvement in preparing the autopsy at a time of tremendous grief. Not having someone outside the family to coordinate preparation for autopsy by itself could represent an obstacle to this procedure.

Another major concern among parents is the feasibility of autopsy if the child dies at home. Two main problems are the ability to transport the child’s body to the site where autopsy will take place and the possible delay in starting autopsy when death occurs outside the hospital. I have been conducting a prospective study to obtain brain-only autopsies in children with diffuse intrinsic pontine glioma (DIPG), a rare and lethal type of brain cancer in children.¹⁸ More than 80% of the children who underwent autopsy in our study died at home. The median interval from death to autopsy was 7.5 hours. We were able to arrange transport of the body with funeral homes for all children who died at home. The delay in the start of autopsy is particularly concerning when metabolic disorders are suspected. A recent review described the importance of tissue and fluid collection as soon as possible after death and the procedures that need to be followed in these special autopsies, also called metabolic autopsy, to rule out metabolic disorders.¹⁹ In the latter cases, further arrangements need to be in place to assure a very short interval between death and autopsy and the expeditious collection of tissue samples.

Lastly, in the majority of cases there may be financial costs associated with the transportation of the child’s body and autopsy that may not be covered by the insurance plan or by the hospital where the autopsy takes place. In my experience, the potential financial burden of the procedure may also influence the decision of families to consent or not to this procedure.

Perspective of Families about Autopsy

Among the main reasons raised by physicians not to initiate the discussion about autopsy are the perception of futility of this procedure in view of what was already known before death, and the assumption that such discussion could further upset bereaved families. Only a few studies to date have investigated the pros and cons of having an autopsy done from the perspective of parents who had lost a child.^5,20–22 The perception of bereaved parents varied from one study to another depending on several factors, including the medical problem, the design of the study, the overall context of death such as the child’s age, type of illness, and expected vs. unexpected death, and how the process was handled by medical personnel.

In a report published in the 1980s, researchers reported the opinion about autopsy among family members who had recently lost a child or adult relative in a large tertiary center.⁵ One-fifth of the study subjects were parents who had lost a child. The authors contacted not only family members who had consented but also those who had not consented to an autopsy. Strikingly, family members who consented to autopsy for deceased children reported significantly more comfort in knowing the cause of death than relatives of adult patients who had also provided consent to the procedure. Family members of deceased children also expressed their concern significantly more often about body disfigurement with autopsy and the stress associated with autopsy consent than relatives of deceased adults. Overall, the role of autopsy was seen as beneficial in 91% and 83% of relatives who consented or did not consent to autopsy, respectively.

A survey was conducted among 59 sets of parents whose children had died in three neonatal units in Scotland between 1996 and 1998.²⁰ Autopsy consent had been initiated for all but one set of parents, and two-thirds had consented to the procedure. The main reasons for parents to consent to autopsy were to obtain answers to their questions, to help others, and to obtain information that could influence future pregnancies. The main reasons parents declined consent to autopsy were dread of mutilation to the child’s body and the absence of questions to be answered about the child’s death. When reached 13 months after death, none of the parents regretted the decision either way.

A 2002 study interviewed, via questionnaire, mothers who had lost a child during pregnancy or infancy over a 4-year period.²¹ Of the 148 respondents, 120 had consented to autopsy. Almost half of mothers consented to autopsy because they wanted to learn more about what happened to their child and 25% believed that it would improve medical knowledge and research. On the other hand, 7% of those who consented to autopsy regretted the decision because no clear reason for the death was identified, the procedure produced more questions than answers, or they believed that their children had suffered too much. Four of the 28 mothers who declined autopsy regretted their decision. Almost half of mothers who declined autopsy believed that their children had already suffered too much, 26% did not believe the procedure would help them, and 10% were concerned about the effects of autopsy on the child’s appearance.

A 2006 follow-up survey of 373 parents who lost a child to SIDS,²² was conducted by questionnaire 4 to 7 years after death, and all children underwent autopsy. Response was obtained from 141 (38%) of parents. There were no differences between respondents and no-respondents in regards to sex of the deceased child and whether the diagnosis of SIDS was confirmed. However, parents who responded to the survey had a higher socioeconomic level. Two-thirds of parents believed that the autopsy was helpful in the bereavement period, 17% thought autopsy was wrong at the time of death but now believed that it was the right decision, and 3% thought autopsy was the right decision at the time of death but now regretted their decision. Thirteen percent of parents believed that autopsy was wrong at the time of death and at follow-up. The authors concluded that the high approval rate of autopsy in the context of infants who were suspected to have died of SIDS was because the procedure generated helpful information for parents, families, and the surrounding community. In the latter situation, the authors emphasized the importance of autopsy to show that the parents were not responsible for their child’s death.

In our own study conducting autopsies in children who died of DIPG, a survey of 25% who consented to autopsy has been conducted to obtain their feedback about the procedure. Within this context, we have not witnessed any regrets about the autopsy among parents. So far, the most common reasons reported by parents to consent to autopsy have been to help with research to find a cure for this lethal cancer, to help physicians advance knowledge, and to protect future patients and families.

Several of the previously described studies emphasized the importance for parents of obtaining the results of the autopsy in a timely manner, and also that the results be reported in clear terms.^5,20 It also needs to be emphasized to parents that there is always a risk that autopsy may not contribute to better understanding of the child’s death, so that further frustration is avoided.²¹

One major limitation common to all the studies is the difficulty or complete inability in obtaining feedback from parents who declined or were never asked about autopsy because of logistical and ethical reasons. The lack of knowledge about the perception of a larger share of parents about autopsy creates a bias in the results and limits our ability to transform this entire process to one more acceptable to families.

Perspective of Physicians about Autopsy

Despite all technological advances in diagnosing and treating acute and chronically ill children, autopsy remains the gold standard to assure appropriateness of care. Autopsy is an important tool to confirm primary or concomitant conditions, and even to detect conditions that may have been unknown before death. Several prospective and retrospective studies have reported the impact of autopsy in providing a standard for the quality of care of children in different contexts, be it in general pediatrics or specialty services, including neonatology, pediatric cardiology, hematology-oncology, critical care, and emergency medicine.^23–25 Autopsy produced new major diagnoses, which would have been relevant for the care of these children in 20% to 50% of the cases.^23–25

Two surveys conducted in the 1990s evaluated the knowledge and opinion of pediatric residents and/or pediatricians about autopsy.^10,26 In the first study, 98% of responding physicians believed that autopsy provided valuable information. However, less experienced physicians and those who had not witnessed an autopsy were less cognizant of the importance of this procedure.¹⁰ A significant share of physicians reported discomfort in informing parents of the death of a child who they were treating or raising the issue of autopsy; these feelings were less relevant for more experienced physicians. The most common reasons described for physicians not to make efforts to get consent to autopsy were fear of upsetting families and the belief that the results of autopsy would not be valuable. The physicians believed that the most common reasons for failure to get consent to autopsy were concern about desecration of the body among families and that family members were too upset to consider the procedure. The second study demonstrated lack of knowledge about autopsies among senior pediatric residents.²⁶ Senior residents were shown to be unfamiliar with the procedures involved in autopsy and therefore unable to correctly pass this information to families. More alarming, two-thirds of senior pediatric residents had not had any training about procedures associated with autopsy, and half of senior pediatric residents had not had any training on how to obtain consent to autopsy.

A survey of residents, fellows, and faculty neonatologists at a tertiary neonatal unit in the 1980s also showed that the most experienced physicians considered neonatal autopsy important more often than their junior colleagues.⁹

Future of Pediatric Autopsy

As discussed previously, I believe that autopsy continues to provide a relevant service to the families of deceased children, physicians and trainees, and society as a whole. The availability of new technologies, particularly in the diagnosis of pediatric illnesses, may have supplanted the need for autopsy in several situations where the cause of death has been well established. However, autopsy will continue to be useful in multiple other situations in children.

Significant research has been conducted in tissue obtained at autopsy in several debilitating and catastrophic disorders in childhood such as autism, SIDS, and cancer.^18,27–29 One study reported the importance of basic research done in tissue specimens collected at autopsy in children who died of SIDS, to investigate the mechanisms of death.²⁷ In this study, researchers described the key collaboration between bereaved parents of children who died of SIDS and investigators to push legislation in California to assist in the creation of protocols for scene investigation and postmortem examination.²⁷ The authors also emphasized the opportunity for families and investigators elsewhere to follow this same paradigm to help enhance the acceptance of pediatric autopsies.

Although the cause of SIDS in most children remains unknown, previously undiagnosed inborn errors of metabolism account for a significant percentage of these deaths.³⁰ Since the first description of metabolic causes of SIDS in 1976,³¹ major progress has been accomplished in the biochemical, molecular, histochemical, and genetic analysis of tissue and fluids obtained at autopsy. A 2004 review of the most common metabolic disorders associated with SIDS and the new techniques that are available for their diagnosis¹⁹ emphasized the importance of multidisciplinary discussion in metabolic autopsy, if possible with direct involvement of the metabolism specialist. This is crucial to guarantee the proper collection of samples and the timing of collection. For example, some organs, such as the liver, undergo rapid proteolysis and tissue collection needs to occur as soon as possible after death. Collection of cerebropsinal fluid, when clinically indicated, needs to occur before death. The metabolic autopsy has provided crucial information not only in deaths suspicious for SIDS but also in other cases in which inborn errors of metabolism are suspected to play an important role.

Another study described the efforts to collect and bank brain tissue collected at autopsy from children and adults with autism.²⁹ Because little is known about the pathophysiology of autism, researchers hope to better understand the neurobiology of this disorder by studying the brains of affected individuals.

We have been conducting a clinical trial to prospectively collect tumor tissue in children with DIPG.¹⁸ Radical surgical resection of DIPGs is impossible due to the critical location and the infiltrative nature of this tumor. Biopsy of the tumor for histological confirmation is only recommended in cases with atypical imaging characteristics.³² Because tissue samples from DIPG are hardly ever available for research purposes, very little is known about the biology of this cancer. We have successfully collected a large number of tissue samples from children with DIPG at autopsy. Of note, we have obtained DNA of excellent quality from these tumor samples obtained at autopsy even several hours after death. Extensive molecular studies of these precious tissue samples are ongoing.

As described before, appropriate legislation that regulates autopsy and tissue retention makes the process of consent particularly transparent for families, which may ultimately increase society’s support for this procedure. However, there is significant concern among physicians and researchers about some aspects of these new regulations. For example, the requirement for full description of the tests planned to be done in retained tissue samples after autopsy, as mandated by the Human Act of 2003, is not believed feasible by many scientists.³³ Therefore, there has been concern that some of the new legislation may serve as a deterrent for future research based on tissue samples obtained at autopsy.

We also described how legislation in California was modified to foster the acquisition of tissue at autopsy from infants who died of SIDS. This change was possible only because of cooperation among families, investigators, and the government. Likewise, the success of our own study in acquiring tumor tissue samples from children with DIPG is a result of cooperation between investigators and affected families. In fact, several organizations formed by parents and families have created networks to support some of this research based on tissue obtained at autopsy.^34–36 Therefore, this paradigm of cooperation among affected families, healthcare providers, and government may be paramount in establishing an important role for research based on tissue obtained at autopsy in other settings of pediatric disease.

For this cooperation to take place, it is crucial that physicians continue to learn from affected families the pros and cons associated with this procedure. For example, it is clear that a significant proportion of parents are concerned about disfigurement and/or desecration of the child’s body at autopsy. In such cases, minimally invasive autopsies may provide enough information after the death without creating significant objection from parents.³

Summary

It is clear that continued education of medical students and physicians about autopsy is required. It is obvious that the curriculum of medical schools and residency programs needs to be changed to emphasize the importance and potential gains when autopsy is performed. Medical students and physicians in training will only feel comfortable in raising the issue of death and the possibility of autopsy to families if they undergo appropriate training and exposure to these issues.

Pediatricians need to continue to teach and learn about the pros and cons of autopsy. Pediatricians are well positioned to influence other healthcare providers and bereaved families, and hopefully to lead to a change in attitude within society about the importance of this procedure.