ORPHA:168782
Childhood disintegrative disorder
Also known as: Dementia infantilis · Heller syndrome
Publications
970
83.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,022
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015681
- UMLS:C0236791
- NCIT:C97164
Additional Mondo synonyms (4)
childhood disintegrative disease · dementia infantilis · disintegrative psychosis · heller syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
970 matched papers (522 in last 10 years) Source
- Phenotype characterisedPresent
16 HPO annotations (e.g. Severe intellectual disability; Progressive language deterioration; Abnormal emotional state) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
16
Associated phenotypes · MONDO:0015681
- Severe intellectual disability
- Progressive language deterioration
- Abnormal emotional state
- Urinary incontinence
- Reduced social responsiveness
Showing 5 of 16 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
970
970 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
970 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
522 in the last 10 years · high confidence · 83.6th percentile (publications denominator)
Phrase hits: 970 · MeSH hits: 0
Who's working on it?
1,022
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Posar A5 papers · 2023
IRCCS Institute of Neurological Sciences of Bologna, Child Neurology and Psychiatry Unit, Bologna, Italy.
Papers in Europe PMC - 02Visconti P5 papers · 2023
IRCCS Institute of Neurological Sciences of Bologna, Child Neurology and Psychiatry Unit, Bologna, Italy.
Papers in Europe PMC - 03Lopes LC3 papers · 2025
Pharmaceutical Science, University of Sorocaba, Sorocaba, Brazil luslopesbr@gmail.com.
Papers in Europe PMC - 04Lopes LPN3 papers · 2025
Pharmaceutical Science, University of Sorocaba, Sorocaba, Brazil.
Papers in Europe PMC - 05
- 06Westphal A3 papers · 2017
Dr. Westphal is Assistant Professor, Division of Law and Psychiatry, Department of Psychiatry, Yale School of Medicine and Yale Child Study Center, Yale University, New Haven, CT. alexander.westphal@yale.edu.
Papers in Europe PMC - 07Absoud M2 papers · 2023
Children's Neurosciences, Evelina London Children's Hospital, St Thomas' Hospital, King's Health Partners Academic Health Science Centre, London, UK.
Papers in Europe PMC - 08Afriandi I2 papers · 2026
Department of Public Health, Faculty of Medicine, Padjadjaran University/Hasan Sadikin General Hospital, Bandung, West Java, Indonesia.
Papers in Europe PMC - 09Baird G2 papers · 2019
Evelina London Children's Hospital, Guy's and St. Thomas' Trust, Kings Health Partners AHSC, London, UK.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (3)
- isrctn·ISRCTN25479460·No longer recruiting·Atomoxetine for Attention-deficit hyperActivity disorder Symptoms in children with pervasive developmental disorders: a pilot study
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN17120714·No longer recruiting·Risperidone in children and adolescents with severe disruptive behaviour problems
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN97327133·No longer recruiting·The effect on participants, and experience of a psychological group therapy programme for women with the Mayer-Rokitansky-Kuster-Hauser syndrome: a randomised controlled treatment trial
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Childhood disintegrative disorder — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Childhood disintegrative disorder" OR "Dementia infantilis" OR "Heller syndrome" OR "childhood disintegrative disease" OR "disintegrative psychosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Childhood disintegrative disorder" OR "Dementia infantilis" OR "Heller syndrome" OR "childhood disintegrative disease" OR "disintegrative psychosis"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T08:30:12.661Z