Evidence map›Paper›PMID 40275179›Full record

ArticleJournal of neurodevelopmental disorders2025

Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation.

Sophia Lenz, Ajilan Sivaloganathan, Sarah J Goodman, Cheryl Cytrynbaum, Jesiqua Rapley, Emma Canning, Danielle Baribeau

Abstract read
In one paragraph

Article in Journal of neurodevelopmental disorders, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Sophia Lenz *Autism Research Centre, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Canada.
Ajilan Sivaloganathan *Autism Research Centre, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Canada.
Sarah J GoodmanThe Hospital for Sick Children, Toronto, Canada.
Cheryl CytrynbaumThe Hospital for Sick Children, Toronto, Canada.
Jesiqua RapleyAutism Research Centre, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Canada.
Emma CanningCarleton University, Ottawa, Canada.
Danielle BaribeauInstitute of Medical Sciences, University of Toronto, Toronto, Canada. dbaribeau@hollandbloorview.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveHundreds of rare genetic variants associated with autism or intellectual disability have been identified, and many impact genes known to have a primary epigenetic/chromatin regulatory function. The objective of this study was to examine and compare behavioural profiles and longitudinal psychotropic treatment patterns in children with epigenetic/chromatin variants, other rare variants impacting neurodevelopment, or no known genetic condition.

methodsUsing electronic medical records from a pediatric psychopharmacology program for children with autism or intellectual disability, we compared clinical characteristics, longitudinal psychotropic medication profiles and side effects between those with and without a rare genetic variant, and by variant subtype [epigenetic/chromatin regulation or other variant].

resultsA total of 331 children attended 2724 unique medical visits between 2019 and 2022, with a mean of 8 follow-up visits over 3.4 years. Nine children (3%) had variants in epigenetic/chromatin regulatory genes (EC), twenty-three children (7%) had other rare genetic variants (OTH), and the rest had no reported variant (NR, n = 299, 90%). Those with a rare genetic variant (EC or OTH) were more likely to have an intellectual disability and had a greater number of co-occurring physical health conditions (p < 0.01). Overall, 66% of psychotropic medications were continued for ≥ 3 visits, while 26% were discontinued. Rates of psychotropic polypharmacy, medication patterns, behavioural challenges, and co-occurring developmental diagnoses were similar between genetic groups. Analyses uncorrected for multiple comparisons suggested those with genetic variants were more likely to experience drowsiness/sedation as a side effect (EC 33%, OTH 35%, NR 16%, p < 0.05); weight gain as a side effect was also higher in the epigenetic/chromatin group (EC 50% vs OTH 11%).

conclusionGenetic classification of neurodevelopmental disorders (NDDs) may help anticipate treatment tolerability; additional prescribing considerations may be needed for those with rare variants. Current psychotropic prescribing practices do not differ across rare genetic NDD subgroups.

Indexed as

Autism Spectrum DisorderAutistic DisorderChromatinEpigenesis, GeneticIntellectual DisabilityPsychotropic DrugsAdolescentChildChild, PreschoolFemaleHumansMaleChromatinPsychotropic DrugsAutismBehavioural disordersEpigenetic regulationPsychopharmacologyRare genetic neurodevelopmental disorders

Identifiers

PMID40275179
PMCPMC12023381

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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 OpenQuestion graph.