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Disease

Intellectual Disability

Late-stage therapeutic developmentEmerging researchRising momentum
9
Publications
9
Clinical trials
2
Related conditions
2024
Latest publication
Latest activity
beta

Recent clinical, regulatory, research and industry developments relating to this disease.

The impact of SETBP1 mutations in neurological diseases and cancer.

Research2023-07-25Genes to cells : devoted to molecular & cellular mechanisms

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Clinical trials

8 sponsors · 1 new · 2 completed in the last 12 months (net +1)

The current development programme across all trial phases.

Clinical programme
9
All trials
2
Active
6
Late-stage
6
Completed
Late-stage studies
Recently completed

Research activity

9 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time
20192024
Most influential
Recent publications
Major themes8
  • Intellectual Disability7
  • Autism Spectrum Disorder3
  • Neurodevelopmental Disorders2
  • Abnormalities, Multiple1
  • Attention Deficit Disorder with Hyperactivity1
  • Autistic Disorder1
  • Brain Diseases1
  • Catatonia1
Leading journals6
  • American journal of human genetics1
  • BMC psychiatry1
  • Genes to cells : devoted to molecular & cellular mechanisms1
  • Human molecular genetics1
  • JAMA network open1
  • Journal of developmental and behavioral pediatrics : JDBP1
Leading researchers8
  • Valence S2
  • Adhikari A1
  • Amoakohene E1
  • Anderson JS1
  • Argilli E1
  • Armstrong-Moron J1
  • Bakian AV1
  • Balestrini S1
Affiliations (unnormalised)6
  • Department of Clinical Genetics2
  • University of Genoa2
  • Baylor College of Medicine1
  • Biochemistry Center1
  • Brain Research Institute1
  • Bristol Medical School1

Related conditions

2 matches

Diseases frequently studied alongside this one. Number shows shared papers.

Disease profile

A grounded synthesis of the condition — overview, causes, mechanism, risk factors and current standard of care.

Overview

Intellectual disability is subnormal intellectual functioning that begins during the developmental period. It is commonly assessed using IQ scores, with lower scores indicating greater impairment. The condition has multiple potential etiologies, including genetic defects and perinatal insults.

Causes

The grounding supports multiple etiologies rather than a single cause. These include genetic defects, and specific genetic causes such as SETBP1 mutations in Schinzel-Giedion syndrome, which is characterized by severe intellectual disability. Perinatal insults are also listed as a cause in the MeSH definition.

Pathophysiology

The core biological feature is impaired intellectual functioning arising during development. The supplied review indicates that SETBP1 mutations are implicated in neurological disease, but also states that the physiological role of SETBP1 and the mechanisms by which mutations cause disease are not yet fully elucidated. Beyond this, the grounding does not support a more specific mechanism.

Risk factors

Genetic defects increase risk, including pathogenic SETBP1 mutations associated with severe intellectual disability in Schinzel-Giedion syndrome. Perinatal insults are also identified as a risk factor or contributing cause. No additional risk factors are supported by the grounding.

AI-generated summary grounded in MeSH and 1 peer-reviewed source. Informational only — not medical advice. Generated 2026-07-07.

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.