Deep Brain Stimulation in a Child with Aicardi‐Goutières Syndrome‐7 ( <scp>AGS7</scp> ): A Case Report and Literature Review
Bibliographic record
Abstract
Aicardi-Goutières syndrome (AGS) is a clinically and genetically heterogeneous group of disorders with neurological and systemic findings.Some individuals present with early-onset encephalopathy, whereas others exhibit normal development followed by regression of milestones.Other signs include intellectual disability, irritability, spasticity, dystonia, acquired microcephaly, sterile pyrexia, chilblains, and hepatosplenomegaly. 1 AGS is caused by homozygous variants in ADAR (OMIM: 146920), RNASEH2A (OMIM: 606034), RNASEH2B (OMIM: 610326), RNASEH2C (OMIM: 610330), SAMHD1 (OMIM; 606754), TREX1 (OMIM: 606609), RNU7-1 (OMIM: 617876), or LSM11 (OMIM: 617910) genes and heterozygous pathogenic variants in TREX1, ADAR, or IFIH1 (OMIM: 606951) genes.1,2 Here we describe a child with AGS7 who had progressive dystonia and was managed with deep brain stimulation (DBS).An 8.5-year-old girl born to nonconsanguineous parents was referred for the management of progressive dystonia and regression of milestones.The mother reported fetal hypokinesia.The baby was born full term by vacuum-assisted delivery with a birth weight of 3150 g, and the neonatal transition was uneventful.Her motor milestones were mildly delayed from 6 months of age.She had a gradual regression of milestones from 18 months of age.Assessment at 21 months of age revealed normocephaly, spasticity of all four limbs, brisk deep tendon reflexes, bilateral ankle clonus, and dystonia of bilateral lower limbs.Brain magnetic resonance imaging (MRI) at 2 years of age (Fig. S1A-F )
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.004 | 0.003 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.002 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".