A 2-year-old Male with Developmental Delay, Irritability, and Failure to Thrive
Bibliographic record
Abstract
Editor’s note: Each month, this department features a discussion of an unusual diagnosis in genetics, radiology, or dermatology. A description and images are presented, with the diagnosis and an explanation of how the diagnosis was determined following. As always, your comments are welcome. A 2-year-old male was evaluated for developmental delay, irritability, and failure to thrive. Past medical history was also remarkable for recurrent upper respiratory infections, reactive airway disease, and gastroesophageal reflux. Prenatal history and family history were unremarkable. Examination revealed an alert, non-dysmorphic child with significant truncal hypotonia and with appendicular spasticity and dystonia. ABOUT THE AUTHORS David T. Hsieh, MD, is a Fellow, Department of Neurology, Children’s National Medical Center, Washington, D.C. Andrea L. Gropman, MD, is Assistant Professor, Department of Pediatrics and Neurology, Georgetown University Hospital. Phillip L. Pearl, MD, is Associate Professor, Department of Neurology, Children’s National Medical Center, Center for Neuroscience Research. Address correspondence to: David T. Hsieh, MD, Department of Neurology, Children’s National Medical Center, 111 Michigan Ave. NW, Washington, DC 20010; or fax 202-476-5226. The authors have disclosed no relevant financial relationships. The views expressed in this article are those of the author(s) and do not reflect the official policy or position of the U.S Air Force, Department of Defense, or the U.S. Government.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.003 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.004 |
| Insufficient payload (model declined to judge) | 0.007 | 0.002 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".