ArticleTranslational science of rare diseases2025
Pitt-Hopkins syndrome: A case report of mild impairments and musical talents.
Article in Translational science of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
Background: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by mutations in the Objective: To demonstrate that PTHS may have a wider functional spectrum than previously understood. Methods: A child that previously participated in a PTHS research study was identified as having a milder clinical presentation than other children in the study. A follow-up interview was conducted with the child's mother to follow the child's developmental course since the initial study. Results: The child's clinical presentation consisted of mild academic delays, speech consisting of full sentences, and full ambulatory function. Additionally, the child's musical abilities (e.g., perfect pitch, the ability to transpose music, plays several instruments) has allowed him to enroll in a performing arts charter school. Conclusions: Such PTHS case presentations further emphasize that individuals with mild medical and neurocognitive impairments could benefit from comprehensive genetics-informed care.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.