The impact of MYT1L-syndrome on behaviour and cognition
Bibliographic record
Abstract
This thesis aimed to investigate the cognitive and behavioural phenotype of MYT1L-syndrome (2p25.3 deletion), a novel cause of intellectual disability. Initially, a systematic review was conducted exploring the cognitive and behavioural phenotype of children with genetic disorders affecting chromatin remodelling, a process which the MYT1L gene is also involved in. Generally, there are clear associations between genetic disorders implicated in chromatin remodelling and neurodevelopmental conditions. Semi-structured qualitative interviews were then conducted with parents and caregivers of children with a diagnosis of MYT1L-syndrome to understand the lived experience of individuals with, and families of those, with the syndrome. Then, based on the findings of the systematic review and the insights provided by caregivers, a series of standardised measures were selected to quantitatively assess the cognitive and behavioural phenotype of individuals with the syndrome. Collectively, the findings reported within this thesis advance our understanding of the cognitive and behavioural phenotype associated with MYT1L-syndrome. The impact is often complex, and there is notably a profound impact on multiple areas of life for individuals with the syndrome. Impacted areas include reaching developmental milestones, communication and social skills, anxiety, adaptive behaviour, and sensory processing. The research also found that there is frequently a significant and multi-faceted impact on caregivers, siblings, and the wider family. Collectively, this research provides a detailed description of the cognitive and behavioural phenotype of individuals with MYT1L-syndrome. Additionally, the findings highlight some of the collective strengths and weaknesses of the cohort and recognises the intra-group heterogeneity. Clinical implications are discussed alongside recommendations for future research.
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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 | 0.006 | 0.024 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.002 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
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".