key: cord-311806-3zy5kgo5
authors: Leoni, Chiara; Giorgio, Valentina; Onesimo, Roberta; Tarani, Luigi; Celli, Mauro; Selicorni, Angelo; Zampino, Giuseppe
title: The dark side of COVID‐19: The need of integrated medicine for children with special care needs
date: 2020-06-24
journal: Am J Med Genet A
DOI: 10.1002/ajmg.a.61722
sha: 
doc_id: 311806
cord_uid: 3zy5kgo5

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During the coronavirus disease 2019 (COVID-19) outbreak, the Italian healthcare system dramatically changed in terms of delivery of standard of care. In Italy, about 2 million patients are affected by various rare disorders (70% of these are pediatric patients). A multidisciplinary approach is routinely performed in third-level specialized centers in order to provide an assessment of global disease impact and to prevent and manage disease sequelae and comorbidities. Against this background context, the COVID-19 pandemic completely altered a previously well-organized and carefully planned approach. Medical attention was invariably focused on COVID-19, overshadowing any other potential clinical issue. Families of children affected by rare diseases were often geographically/physical isolated far from their normal treatment centers, and physicians were unable to fulfill their "traditional" role in caring for these patients. In this suddenly and drastically changed system, three main issues have been unmasked; these involve the prevention and management of sequelae and comorbidities in children with rare diseases. We discuss these issues in turn, and describe specific examples we have observed to illustrate these points.

In this section, we discuss about how lack of knowledge and experience related to congenital disorders may inadvertently lead to severe medical complications. Each genetic condition, especially when the pathogenesis is relatively well known and delineated, is usually characterized by a distinct phenotype and multiple organ involvement; secondary medical complications may frequently impact the everyday life of affected patients. These complications can impact the patient's outcome and the overall family well-being. One crucial role of a physician who is an expert on rare disorders is to recognize the cardinal features related to the syndrome and to be aware of potential complications in order to plan a personalized care plan so as to monitor signs and symptoms, prevent secondary complications, and support interconnections with local healthcare providers.

Two girls (15 and 25 years of age) affected by classical Cornelia de Lange syndrome (Kline et al., 2018) , with severe intellectual disability, developed gastrointestinal symptoms (vomiting, abdominal pain) associated with irritability. Contact of local professionals via the parents led to suspicion of acute gastroenteritis; a rehydration and "watchful waiting" approach was suggested. Due to persistent vomiting, and worsening of self-aggressive behavior, the parents phoned the referring expert doctors, who recommended urgent clinical evaluation at local hospitals for suspicion of intestinal occlusion (a common medical complication related to the syndrome); this was offered despite advice to wait for the clinical features' evolution because of issues related to the COVID-19 pandemic. Bowel occlusion and malrotation was diagnosed in both girls, and large bowel resection was performed. They were both admitted to Intensive Care Unit; the younger girl was discharged after 21 days of hospitalization, while the older one died after 6 days due to sepsis. Oropharyngeal swabs were negative for Severe Acute Respiratory Syndrome-Coronavirus-2 (SARS-CoV-2) in both.

This section refers to how lack of experience about clinical management of specific genetic conditions may affect patient's outcome even Angelo Selicorni and Giuseppe Zampino contributed equally to this study.

COVID-19 in children: Initial characterization of the pediatric disease

Diagnosis and management of Cornelia de Lange syndrome: First international consensus statement

Delayed access or provision of care in Italy resulting from fear of COVID-19

Management of osteogenesis imperfecta

Kabuki syndrome: Review of the clinical features, diagnosis and epigenetic mechanisms

We want to thank the families who provided the clinical information despite the touching experiences.

Data available on request from the authors.

Chiara Leoni conceptualized and designed the study, wrote the manuscript, reviewed and revised the final manuscript. Valentina Giorgio acquired clinical data on Case 1 (first patient), reviewed, and revised the manuscript. Roberta Onesimo drafted and reviewed the article. LuigiTarani acquired clinical data on Case 3, reviewed, and revised the manuscript. Mauro Celli acquired clinical data on Case 2, reviewed, and revised the manuscript. Angelo Selicorni acquired clinical data on Case 1 (second patient), reviewed, and revised the manuscript. Giuseppe Zampino critically reviewed and revised the manuscript for important intellectual content. All authors approved the final version of the manuscript as submitted and they agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work.

https://orcid.org/0000-0002-4089-637XRoberta Onesimo https://orcid.org/0000-0003-3128-6657Angelo Selicorni https://orcid.org/0000-0001-6187-3727Giuseppe Zampino https://orcid.org/0000-0002-2661-4831