Obstacles to diagnostic investigation of a child with comorbid psychiatric conditions

Discussion

This report emphasizes how a variety of different components in a difficult medical case can create a lengthy and complicated road to diagnoses. In the case of children and adolescents when neuropsychiatric disorders are at question, a youngster’s continuing development complicates the course in ways that can affect behavior, emotions, cognition and general learning and development. Another component is how particular styles of parental interaction with their child and the healthcare system can pose challenges to concise diagnostic evaluation. Parent-child dynamics and socio-cultural milieu may also influence how children present symptoms; as it is, children’s presentations with psychiatric conditions are atypical and many children cannot describe or express their symptoms at all.

Many features of this patient’s medical history had raised suspicion for the possibility of factitious disorder imposed on another (2), namely the extensive, repeated prior medical workups with no significant findings; frequent consultation at a myriad of healthcare centers; failure for child to have clinical improvement despite considerable healthcare intervention and consultation; incongruences between reported patient history and indexed medical records; repeat history of refusing or withdrawing medication intervention despite physician recommendations. However, the patient’s real presence of medical illness, without the possibility of a fabricated condition, makes classic factitious disorder imposed on another more difficult to apply in this situation; however, considering psycho-dynamic aspects of that condition may help guide family interaction and care coordination.

Perhaps better applicable to this patient’s situation with respect to his parents is the concept of ‘emotional over-involvement’ on the part of the mother. In fact, the literature has shown that emotional over-involvement of caregivers that “manifests itself by over-emotionality, excessive self-sacrifice, over-identification, and extreme overprotective behavior with the patient” is correlated with higher risk of relapse and re-hospitalization in those with schizophrenia (7). Therefore, by understanding this patient’s condition as schizophrenia, the relationship with his primary caregiver may contribute to explaining the excessive history of relapses and rehospitalization. Additionally, the failure to maintain a consistent anti-psychotic regimen could further account for this patient’s history of relapses. The mother, as primary caregiver, consistently stopped treatment that helped the patient due to her belief that long-standing medication was ‘not what was best’ for her child and ‘unnecessary’ since he would ‘always get better on his own.’

The nature of the caretakers’ interactions further made psychiatric diagnoses difficult to explore in more depth, regarding a detailed family history, for example, even though psychiatric diagnosis was always considered a key of the differential diagnosis, the one of highest in clinical suspicion. Due to the inherent nature of psychiatric disorders, response to treatment yields key diagnostic information. A documented history of consistent parental discontinuation of psychiatric medications post-discharge, or even refusal during hospital-stay, presented barriers to fully exploring the psychiatric component of this patient’s presentation. In one particular example, during a presentation consistent with catatonia, providers gave a lorazepam challenge, with which the patient reportedly improved, further providing episodes of catatonia to evidence an overall diagnosis of schizophrenia. However, lorazepam had to be immediately discontinued due to parental refusal. Their perception was that the patient was not actually improving, when, by all other accounts, he objectively was. An additional element of caretaker interaction with the healthcare system to explore is the lack of pursuit of outpatient psychiatric evaluation, despite discharge recommendations following many inpatient admissions.

These observed behaviors from caretakers related to the patient’s care may have been the result of a variety of factors which complicates understanding of the relative contribution of each and how they interact with one another. In one element, physicians need to consider patient’s ability to simply access specialized healthcare services, such as may be required in the case of complex mental diagnoses. However, in this patient’s case, with residence in a highly populated, urbanized area, failure to have these services within a reasonable area of travel would be unlikely. However, this assumption does not incorporate access related to finances or transportation. In this sense, the extensive history of patient travel to prestigious medical centers and providers across a widely dispersed geographic region makes these forms of access limitation unlikely as well. The patient/caretaker’s sociocultural background also requires consideration in understanding their behaviors through navigating the healthcare system. Those within the Orthodox Jewish community have often reported fear of stigma originating within their community relating to mental health problems and the pursuit of care from mental health professionals (8). Studies have also demonstrated how members in these communities may feel dissuaded from recognizing or treating mental illness out of fear that this will negatively impact marriage prospects or go against religious tenets (9). Therefore, the failure to incorporate efforts to address these concerns into the care of this patient may have contributed to the course of care and caretaker behaviors, including the observed difficulty in shifting the focus of pursued healthcare services towards a psychiatric, rather than autoimmune or neurologic, focus.

Whenever the patient presented to a new provider for emergency work-up, initial clinical suspicions revolved around an autoimmune and metabolic encephalitis, even though numerous previous comprehensive work-ups either ruled-out these conditions or placed them at the lowest clinical suspicion. The fact that this diagnosis stayed with the patient may confirm the tendency of the parent to be repeatedly reporting these previous diagnoses as true. However, this finding may also demonstrate another element of the parental interaction that may have complicated the patient’s clinical picture: the use of an extensive list of different medical providers and specialists at a variety of different medical centers spread across the Northeastern United States. The patient’s having received medical care from such a variety of different medical providers, spread across time and space, introduces difficulties with communication between providers to get a better understanding of the patient’s prior medical care and clinical presentation. However, just as one may argue this difficulty as imposed by the caretaker’s decision to pursue healthcare in a variety of different places, so too may one view this difficulty as imposed by the failure of cohesive functioning across the healthcare system.

Complexities in caretaker interaction with the healthcare system need be investigated in relation to shortcomings of the healthcare system’s organization which can create barriers to efficient, comprehensive, continuous care. Inconsistencies in diagnoses and medical approaches, as evident across this patient’s medical record, can create mistrust in the healthcare system and physicians as a whole. Additionally, these inconsistencies can result in a lack of understanding of, and failure to appropriately value, conclusions drawn by healthcare providers at different moments in interaction with the healthcare system. A lack of clear communication of medical information across space and time, where elements of the patient’s history and prior medical information were lost, modified, or inappropriately added/maintained, through the medical record, can create confusion and frustration on the part of both the healthcare providers and parental caregivers, particularly when these coincide with a failure to observe significant improvement in the child. Indeed, medication non-adherence from parents with children requiring psychiatric care has been found to correlate with an incongruency between parental expectations and physician’s recommendation as far as the duration and form of treatment (10). Furthermore, the effectiveness of the physician-parent relationship for the treatment of a child’s psychiatric illness can further be complicated in the way that changing parental needs and skills require the physician to similarly re-evaluate their approach (11). Without a cohesive medical history or a long-term physician patient relationship, physicians may find difficulty in the ability to effectively communicate expectations and tailor their role within the framework of the parent’s skills/needs at that point in time.

Without ready access to previously documented medical information, future physicians may feel pressured to over-rely on patient’s ability to relay information about the medical history. A medical history as complex and long-standing as presented here complicates this process further, and can further pose as an obstacle to building an effective physician-patient relationship. Perhaps the ‘burden of proof to communicate not only the medical history, but also how or why these tests/diagnoses were attained, may be sensed by the patient/caregiver, which can impart a sense of disingenuity or incompetence in the healthcare provider or system as a whole. All of these elements together or individually may manifest in protracted duration of ineffectively or inefficiently treated disease, including recurrent psychosis and neurodevelopmental disorders. Additionally, these shortcomings may reflect in behavior by caregivers, such as emotional-overinvolvement, as a mechanism of protection or compensation for their loved ones, as a response to these shortcomings of the healthcare system.

Beyond the dynamics of parental interaction, this case emphasizes the importance of thoroughly reviewing prior medical records, especially in patients with longstanding, complicated histories of medical workup/intervention, since some test results may function better if re-interpreted given more contemporary knowledge and literature. In particular, this patient’s finding of a 15q11.5 microduplication in 2017 puts this idea into practice. At the time of the genetic test in 2017, interpretation of this finding was simply “Likely Benign,” with recommendation against further genetic testing for himself or relatives. Indeed, literature concerning this microduplication cites how “until recently these duplications were reported as variants of unknown significance,” even though more and more research has provided evidence to the contrary (14). Various studies have in fact demonstrated the correlation between this microduplication and speech delays, autism spectrum disorder (ASD), recurrent otitis media, sleep apnea, and OCD – features of each were found in this patient’s presentation (9-15). Despite actual documentation in the patient’s medical records of the correlation specifically between this microduplication and ASD during one encounter, subsequent records still defaulted back to the initial report interpretation of ‘likely benign.’ In fact, this chromosomal region has also been more generally identified as a ‘susceptibility locus’ for various neurodevelopment disorders beyond autism spectrum disorder including increased risk of schizophrenia (12, 13, 16, 17). Abnormalities at this chromosomal region have further been implicated in earlier age of onset for psychotic disorders including schizophrenia, which can help clinicians understand why this patient first presented at an unusually young age (18). Overall, the failure to fully reinterpret prior genetic test results served to potentially delay the eventual diagnosis of ASD as well as schizophrenia in this patient, since that information may have helped raise the clinical suspicion of these disorders to enable a more focused and efficient diagnostic investigation.

In other elements, this case also demonstrates the significant complexities of diagnosing co-morbid schizophrenia, with underlying ASD. In general, ASD must be often, if not always, considered in the cases of psychiatric workup for childhood psychosis, as it has been shown to create difficulties in diagnosing (19), or have a tendency to be mistaken for, psychotic illness (20). Moreover, the presence of baseline ASD may change the way that a co-morbid psychotic illness tends to present, as well as vice versa. Specifically, research has found evidence supporting that “individuals with ASD who have also developed a comorbid psychotic illness differ significantly in their autistic phenotypic profile from individuals with ASD alone, particularly through significantly fewer lifetime stereotyped, repetitive or restrictive interests/behaviors, as is displayed with this patient’s presentation (21). Moreover, ASD individuals tended to have more acute, transient psychosis courses compared to the non-ASD population (22).

As a whole, patients with a prior history of a longstanding, complex, and fluctuating clinical picture present unique challenges in diagnostic investigation. The case of this patient specifically illustrates the importance of an understanding of how co-morbid illnesses, muddled histories, and poor reporting and communication, increase the complexity of the case, particularly if psychiatric symptoms are involved. Great stigma surrounds psychiatric illness. Clinician must always re-evaluate prior finding in light of new scientific information, and tactfully know how to navigate complex parental dynamics in the cases of children and adolescents. Further the case illustrates how lack of communication among providers, lack of a really unified medical record and not letting the evidence speak for itself in terms of where it leads diagnostically can not only harm the patient but also present unnecessary and wasteful costs to the medical system due to duplication of effort to no further avail.