<b><i>Aim:</i></b> We describe the difficulties encountered in making a diagnosis where a somatic condition manifests itself alongside psychiatric symptoms associated with possible psychiatric comorbidities. <b><i>Methods:</i></b> A case study is presented of a 15-year-old girl who was eventually diagnosed with ornithine transcarbamylase (OTC) deficiency (hyperammonaemia type II), following an initial diagnosis of pervasive developmental disorder, selective mutism, and anorexia nervosa. <b><i>Results:</i></b> The OTC disease is not fully expressed in females and its prevalence is lower than in males. Around 17–20% of female patients found with a defective <i>OTC</i> gene on an X chromosome can suffer from OTC deficiency that may result in elevated levels of ammonia in the blood; this occurs when one of the X chromosomes become inactivated. Patients typically present with nausea, migraines, and a history of dietary protein avoidance. In more severe cases, ataxia, confusion, hallucinations, and cerebral oedema can occur. The OTC deficiency can thus remain undiagnosed in women for many years.<b><i> Conclusion:</i></b> Somatic comorbidity in psychiatric inpatients is commonly found; however, such disorders are rarely diagnosed or even treated adequately.
Background: Early-onset psychoses show substantial variability of diagnostic and functional outcome. Finding reliable prognostic factors may allow to allocate resources to those with the worst prognosis. The aim of the study was to gain new insights regarding the potential value of baseline negative and positive symptoms as predictors of outcome in psychoses of early onset. Method: Sixty-three patients with early-onset schizophrenia spectrum psychosis hospitalized in an adolescent psychiatry unit were assessed with the Positive and Negative Syndrome Scale during the index admission. Associations with diagnosis, illness course and functional outcome were analysed in mean 8 years of follow-up (range 3.4-13.5 years). Results: The mean age at the index admission and the follow-up was 16.6 ± 1.2 and 24.5 ± 3.0 years, respectively. A significant majority of subjects continued psychiatric treatment (95%) and had been readmitted (71%). The mortality rate was 3% (suicide and accident). Negative symptoms were related to mental health service utilization during the follow-up. General severity of symptoms, specifically positive and cognitive factors were associated with the diagnosis of schizophrenia and inversely with diagnostic shift outside the schizophrenia spectrum at the catamnesis. Poor impulse control at baseline was associated with worse functional outcome. The drug-free subgroup with no occupational/educational activity compared with the drug-treated subjects showed lower levels of baseline negative symptomatology. Conclusion: The study findings suggest that in patients with early-onset psychosis negative and positive symptoms show a differential prognostic value. Pharmacotherapy may attenuate the effect of symptoms on functional outcome. These hypotheses need to be tested in future studies using confirmatory approaches.
The inpatient treatment seems to be most effective in severe mental states and in anxiety-related disorders and least effective in personality disorders. Due to limited inpatient treatment efficacy we believe outpatients services are crucial in adolescent psychiatry.
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