Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases.

This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS). We summarize overlapping symptoms between two disorders, clinical course, and histopathological analyses of the two patients with FXTAS and sporadic IBM, clinically defined per diagnostic criteria of the European Neuromuscular Centre. In case 1, a post-mortem analysis of available brain and muscle tissues is also described. Histopathological features (rimmed vacuoles) consistent with clinically defined IBM were detected in both presented cases. Postmortem testing in case 1 revealed the presence of an FMR1 premutation allele of 60 CGG repeats in both brain and skeletal muscle samples. Case 2 was a premutation carrier with 71 CGG repeats who had a son with FXS. Given that FXTAS is associated with immune-mediated disorders among premutation carriers, it is likely that the pathogeneses of IBM and FXTAS are linked. This is, to our knowledge, the first report of these two conditions presenting together, which expands our understanding of clinical symptoms and unusual presentations in patients with FXTAS. Following detection of a premutation allele of the FMR1 gene, FXTAS patients with severe muscle pain should be assessed for IBM.

Diagnosis and Treatment of Attention Deficit Hyperactivity Disorder During Adolescence in the Primary Care Setting: A Concise Review.

Attention deficit hyperactivity disorder (ADHD) is a chronic neurodevelopmental disorder with a worldwide prevalence of about 5% in school-age children. This review is intended to assist primary care providers (PCPs) in diagnosing and treating ADHD in adolescents. PubMed, PsychInfo, and Science Citation Index databases were searched from March 1990 to 2015 with the keywords: ADHD, primary care/pediatrics, and children/adolescents. Abstracts addressing diagnosis and/or treatment with 105 citations were identified including supplementary treatment guidelines/books. Adolescent ADHD presents with significant disturbances in attention, academic performance, and family relationships with unique issues associated with this developmental period. Diagnostic challenges include the variable symptom presentation during adolescence, complex differential diagnosis, and limited training and time for PCPs to conduct thorough evaluations. The evidence base for treatments in adolescence in comparison to those in children or adults with ADHD is relatively weak. Providers should be cognizant of prevention, early identification, and treatment of conditions associated with ADHD that emerge during adolescence such as substance use disorders. Adolescent ADHD management for the PCP is complex, requires further research, and perhaps new primary care psychiatric models, to assist in determining the optimal care for patients at this critical period.

Atomoxetine for the treatment of attention-deficit/hyperactivity disorder in children and adolescents with bipolar disorders.

Children and adolescents with bipolar disorder (BD) have a high incidence of comorbid attention-deficit/hyperactivity disorder (ADHD). In this paper, we report a consecutive case series on 7 patients with pediatric BD and ADHD who were treated with atomoxetine-and all but one were also treated in conjunction with mood stabilizers. All patients were outpatients at the Stanford Pediatric Bipolar Disorders Clinic. Information on patients was collected in a retrospective chart review. All but 1 patient demonstrated significant improvement in symptoms of ADHD. No patients had episodes of hypomania or mania during the treatment period. Adverse effects of atomoxetine treatment included sedation, nausea, and decreased appetite. These cases suggest that atomoxetine may be a safe and effective treatment for ADHD in conjunction with mood stabilizers in children with BD.