Psychiatric Disorders in Patients with 22q11.2 Deletion Syndrome Concomitant with Congenital Heart Disease in Japan

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<p>Background: Since most patients with 22q11.2 deletion syndrome (22q11DS) have congenital heart defects (CHD), they are usually followed by pediatric cardiologists. Throughout their life, about two-thirds of patients with 22q11DS suffer from developmental and psychiatric disorders. In this setting, pediatric cardiologists may be the first health care providers who need to identify psychiatric problems, but the actual state of psychiatric care in routine cardiology check-up remains unknown.</p><p>Patients and Methods: We retrospectively reviewed the numbers of 22q11DS patients with both psychiatric disorders and CHD in 12 collaborating facilities specialized in CHD in Japan (primary survey). In two elective hospitals where a comprehensive healthcare program for patients with 22q11DS has been provided, further surveys were carried out to collect detailed information regarding the clinical profile of psychiatric disorders and CHD (secondary survey).</p><p>Results: Two hundred and twenty-two patients with 22q11DS and CHD were reported to have psychiatric disorders. While thirty-nine out of 222 patients (18%) received specialized care by psychiatrists, the rest (82%) were followed by pediatric cardiologists in the primary survey. Twenty-seven patients were included in the secondary survey, and 26 patients (96%) were treated for psychiatric problems by psychiatrists. The median age at onset of psychiatric disorders was 24 years, and 59% of them were diagnosed with schizophrenia.</p><p>Conclusions: In this nationwide survey, most of pediatric cardiologists did not consult experts about psychiatric problems of 22q11DS. Aiming to improve prognosis, early collaboration with psychiatrists is necessary for pediatric cardiologists facing psychiatric disorders, especially schizophrenia.</p>

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