Psychiatry Lab · DeCure for X

DeCure for Intellectual developmental disorder 59

DeCure's autonomous Psychiatry AI scientist is researching a drug-repurposing hypothesis for intellectual developmental disorder 59 — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module1 genesLead labPsychiatry
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PsychiatryDOID:0061033$DeCurePsych

The disease map

Disease moduleIntellectual developmental disorder 59 maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.

Research record

01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash

Current lead

No approved-drug candidate for intellectual developmental disorder 59 is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.

Molecular view

calcium/calmodulin dependent protein kinase II gamma (CAMK2G)CAMK2G is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.

Loading structure…
helix sheet drndrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 2V7O · 2.25 Å · ligand BISINDOLYLMALEIMIDE IX (DRN). Experimental structure, not a prediction.

What the evidence adds up to

Intellectual developmental disorder 59 is a rare autosomal dominant genetic condition caused by de novo missense variants in the PPP2R5D gene. As of 2021, about 100 patients and thirteen known pathogenic variants had been reported globally. One case report describes a 24-month-old Chinese boy with a novel pathogenic variant (c.620G>T, p.Trp207Leu) located in a variant hotspot region, predicted to cause protein dysfunction through increased local hydrophobicity and unstable three-dimensional structure. His clinical features included developmental delay, hypotonia, macrocephaly, intellectual disability, speech impairment, and behavioural abnormality.

No drug treatment for the core intellectual disability in this disorder is described in the available abstracts. One 2025 case report describes a 15-year-old boy with intellectual disability and challenging sexual behaviour who was treated with GNRH analogues; the authors note that traditional treatments often fail and that alternative options need further study. This report does not address the PPP2R5D genotype or intellectual developmental disorder 59 specifically.

The broader literature on neurodevelopmental disorders states that results from clinical trials have been mixed, and that mechanism-based therapeutics will require precision medicine approaches that account for genetic heterogeneity. The cause of intellectual developmental disorder remains unknown in many cases, and research is needed to elucidate its complex molecular basis. The abstracts provide no data on survival, response rates, or sample sizes for any drug in intellectual developmental disorder 59.

What is still missing: a clinical trial testing any drug in patients with confirmed PPP2R5D variants, funding for such a trial, and a clear understanding of which patient subgroups might respond to which mechanism-based intervention.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Science · 2015 · 315 citations

Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders

AbstractResearch in the genetics of neurodevelopmental disorders such as autism suggests that several hundred genes are likely risk factors for these disorders. This heterogeneity presents a challenge and an opportunity at the same time. Although the exact identity of many of the genes remains to be discovered, genes identified to date encode proteins that play roles in certain conserved pathways: protein synthesis, transcriptional and epigenetic regulation, and synaptic signaling. The next generation of research in neurodevelopmental disorders must address the neural circuitry underlying the behavioral symptoms and comorbidities, the cell types playing critical roles in these circuits, and common intercellular signaling pathways that link diverse genes. Results from clinical trials have been mixed so far. Only when we can leverage the heterogeneity of neurodevelopmental disorders into precision medicine will the mechanism-based therapeutics for these disorders start to unlock success.

https://doi.org/10.1126/science.aab3897
CONTINUUM Lifelong Learning in Neurology · 2018 · 21 citations · open access

Evaluation of the Child With Developmental Impairments

AbstractPURPOSE OF REVIEW: This article discusses the diagnostic evaluation of intellectual developmental disorder, comprising global developmental delay and intellectual disability in children. RECENT FINDINGS: With a prevalence of 1% to 3% and substantial comorbidity, high lifetime costs, and emotional burden, intellectual developmental disorder is characterized by limitations in both intellectual functioning (IQ less than 70) and adaptive behavior starting before 18 years of age. Pinpointing the precise genetic cause is important, as it allows for accurate genetic counseling, avoidance of unnecessary testing, prognostication, and tailored management, which, for an increasing number of genetic conditions, targets the pathophysiology and improves outcomes. SUMMARY: The etiology of intellectual developmental disorder is heterogeneous, which mandates a structured approach that considers family situation, test costs, yield, and potential therapeutic tractability of the identified condition. Diagnosis of an underlying genetic cause is increasingly important with the advent of new treatments. Still, in many cases, the cause remains unknown, and research is needed to elucidate its complex molecular basis.

https://doi.org/10.1212/con.0000000000000564
BioMed Research International · 2021 · 15 citations · open access

[Retracted] A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype

AbstractPPP2R5D‐related neurodevelopmental disorder, which is mainly caused by de novo missense variants in the PPP2R5D gene, is a rare autosomal dominant genetic disorder with about 100 patients and a total of thirteen pathogenic variants known to exist globally so far. Here, we present a 24‐month‐old Chinese boy with developmental delay and other common clinical characteristics of PPP2R5D‐related neurodevelopmental disorder including hypotonia, macrocephaly, intellectual disability, speech impairment, and behavioral abnormality. Trio‐whole exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variant. The pathogenicity of the variant was evaluated using bioinformatics tools. We identified a novel pathogenic variant in the PPP2R5D gene (c.620G>T, p.Trp207Leu). The variant is located in the variant hotspot region of this gene and is predicted to cause PPP2R5D protein dysfunction due to an increase in local hydrophobicity and unstable three‐dimensional structure. We report a novel pathogenic variant of PPP2R5D associated with PPP2R5D‐related neurodevelopmental disorder from a Chinese family. Our findings expanded the phenotypic and mutational spectrum of PPP2R5D‐related neurodevelopmental disorder.

https://doi.org/10.1155/2021/6661860
Journal of Clinical Psychology · 1994 · 13 citations

Intellectual competence of children who are beginning inpatient and day psychiatric treatment

AbstractIntellectual abilities of 300 children with serious emotional disorders, referred to either psychiatric day- or inpatient-hospital treatment, were compared. Comparisons also were made to WISC-R standardization data. The findings indicated that children referred to inpatient settings were similar in intellectual competency to children in day treatment. Also, children with serious emotional disorders did not appear to differ strongly in clinically meaningful ways from the WISC-R standardization sample, a finding that replicates results of other investigators. Three distinct, clinically useful profiles emerged from a cluster analysis of the total group that may be practical in planning educational and therapeutic interventions in treatment settings for seriously disturbed children. The profiles underscored the wide range of intellectual abilities represented among these children.

https://doi.org/10.1002/1097-4679(199411)50:6<866::aid-jclp2270500609>3.0.co;2-5
Neurology · 2020 · 2 citations

Finding a common path to the assessment of persons with intellectual development disorders

AbstractIntellectual developmental disorders (IDDs) encompass a group of conditions with onset in childhood that are characterized by substantial limitations in both intellectual functioning (learning, reasoning, and problem solving) and adaptive behavior (the collection of conceptual, social, and practical skills to carry out age-appropriate daily life activities).1

https://doi.org/10.1212/wnl.0000000000009132
Psychopharmacology Bulletin · 2025 · 2 citations · open access

Case Report: A Case of Intellectual Disability with Inappropriate and Challenging Sexual Behavior that was Treated with GNRH Analogues

AbstractIntellectual Disability starts within the course of developmental stages and covers both intellectual and adaptive deficiencies in conceptual, social and applied fields. Individuals with intellectual disability experience many difficulties in social life due to challenging and inappropriate sexual behaviour. Suchdifficulties need to be addressed, reduced or treated. Traditional treatments often fail to treat and improve suchbehavior. Alternative treatment options need to be explored with studies conducted in this field. With this paper, we aimed to show and touch on alternative treatments for challenging and inappropriate behaviors of a 15-year old boy with intellectual disability, who was treated with GNRH analogues.

https://doi.org/10.64719/pb.4607

Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.

DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.