The purpose of this study was to examine the validity of the Infant-Toddler Checklist (ITC) as a broadband screener to detect infants and toddlers with communication delays including ASD from a general population sample. The ITC was used to screen 5,385 children from 6–24 months of age. Three surveillance methods were used to detect children with possible ASD and diagnosis was confirmed at a mean age of 3 years. Positive and negative predictive values support the validity of the ITC for children 9–24 months of age but not 6–8 months. Of 60 children diagnosed with ASD, 56 had a positive screen on the ITC; parent concern increased with child age from less than half reporting concern from 6–15 months and nearly three-fourths at 21–24 months. Implications for improving early detection of ASD are discussed.
Objectives
Diagnosing the idiopathic inflammatory myopathies (IIMs) can be challenging as several conditions, including genetic myopathies such as limb girdle muscular dystrophy type R12 (LGMD 2 l, anoctaminopathy), mimic the presentation. Here we describe learning points identified from review of four patients with LGMD 2 l who were initially incorrectly diagnosed with IIM. Our aim is to provide clinicians working in adult rheumatology services with a toolkit to help identify non-inflammatory presentations of myopathy.
Methods
We performed retrospective review of medical notes, laboratory results, muscle imaging and histological findings of four patients with LGMD 2 l who were previously misdiagnosed with IIM. We focused on clinical presentation and progression, therapeutic agents used, and events leading to revision of the diagnosis.
Results
Three males and one female patients with a mean age of 51 years at presentation were reviewed. In each case treatment with immunosuppressants, in one case for >15 years, was observed without a clear therapeutic response. All patients were negative for anti-nuclear antibodies and available myositis-associated/specific autoantibodies and associated connective tissue disease features were absent. Prominent fatty infiltration and selective muscle involvement on thigh muscle magnetic resonance imaging was a common.
Conclusions
Adult-onset genetic myopathies, particularly LGMD R12, can mimic IIM. Accurate diagnosis is crucial to avoid use of potentially harmful immunosuppressive therapies, allow appropriate genetic counselling, and facilitate involvement in research studies.
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