ORPHA:168782
Childhood disintegrative disorder
Also known as: Dementia infantilis · Heller syndrome
Publications
970
90.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,022
Distinct authors in sample
Gene link
—
Readiness
1/6
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.”
1/6 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 characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
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=5449) is 41.
970 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
522 in the last 10 years · high confidence · 90.5th 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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