Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review
Bibliographic record
Abstract
Recent advancements in new-born screening have reduced the risk of life-threatening complications associated with inherited metabolic disorders. However, the risk of negative psychosocial effects on families persists. The aim of the present study was to systematically review the literature concerning the psychosocial challenges experienced by young people with metabolic conditions and their families, to inform the development of supports that meet the needs of those linked with metabolic services. The electronic databases MEDLINE, CINAHL, PsychInfo, and Psychology and Behavioural Sciences Collection were searched for studies examining psychosocial challenges reported by families with inherited metabolic conditions, over the last two decades. Five-thousand sixty-seven articles were screened for relevance. Twenty-nine studies met the inclusion criteria. Study quality and reliability were independently assessed by two reviewers. Results highlighted the myriad of physical, social, psychological and practical challenges experienced by young people with metabolic conditions and their families. These challenges included social isolation, burden of care, and learning and emotional difficulties. Findings reiterate the importance of developing peer support groups and delivering psychoeducation to families, as well as the central role psychology and social work should play in metabolic MDTs, to improve families' experiences and outcomes.
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 distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.003 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".