NCT01778504

Brief Summary

Background: \- Many psychiatric, behavioral, and developmental disorders are genetic. This means that they tend to run in families. Some begin in childhood, while others do not appear until adulthood. Researchers want to look at people of all ages who have these disorders that started in childhood. They will also look at relatives of people with these disorders. This information will allow doctors to learn more about childhood behavioral problems and how they are inherited. It may also help doctors treat those disorders. Objectives: \- To study the onset and treatment of childhood behavioral, psychiatric, and developmental disorders. Eligibility:

  • Individuals of any age who have a psychiatric, autism spectrum, or developmental disorder, or other behavioral problems.
  • Family members of individuals with the above disorders. This group may include parents, grandparents, siblings, aunts/uncles, cousins, and children. Design: \- Participants will be screened with a medical history and physical exam. They may have a psychiatric history with tests of thinking, judgment, and behavior. Brain imaging scans may be performed to look at brain function.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,000

participants targeted

Target at P75+ for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

December 27, 2012

Completed
1 month until next milestone

First Submitted

Initial submission to the registry

January 26, 2013

Completed
3 days until next milestone

First Posted

Study publicly available on registry

January 29, 2013

Completed
16.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 20, 2029

Expected
Last Updated

April 20, 2026

Status Verified

July 8, 2025

Enrollment Period

16.2 years

First QC Date

January 26, 2013

Last Update Submit

April 17, 2026

Conditions

Keywords

Natural History StudyMental IllnessAutismDevelopmental DelayGenetic DisorderNatural History

Outcome Measures

Primary Outcomes (1)

  • clinical assessments

    to evaluate correlates of clinical symptomatology and response to standard therapeutic interventions.

    Ongoing

Study Arms (2)

Probands

Children, adolescents, and adults

Relatives of Probands

1st, 2nd, and 3rd degree relatives

Eligibility Criteria

Age1 Day - 99 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Up to 1000 people with psychiatric, behavioral, or developmental disorders will be enrolled in this study.

You may qualify if:

  • Participants will be eligible if they:
  • Are aged birth to 99 years
  • Have a diagnosed or undiagnosed neuropsychiatric disorder, neurodevelopmental disability or abnormal behaviors.
  • Have the ability to understand and sign an informed consent on behalf of themselves or their minor children, or have a legal guardian (or designated DPA).
  • Are under the care of a primary physician.

You may not qualify if:

  • Participants will not be eligible if they:
  • Are unwilling or unable to be evaluated and followed as clinically indicated. Examples might include children with severe behavioral problems who refuse physical examination.
  • The participant does not have a primary healthcare provider.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (7)

  • Beneke M, Rasmus W. "Clinical Global Impressions" (ECDEU): some critical comments. Pharmacopsychiatry. 1992 Jul;25(4):171-6. doi: 10.1055/s-2007-1014401.

    PMID: 1528956BACKGROUND
  • Bodfish JW, Symons FJ, Parker DE, Lewis MH. Varieties of repetitive behavior in autism: comparisons to mental retardation. J Autism Dev Disord. 2000 Jun;30(3):237-43. doi: 10.1023/a:1005596502855.

    PMID: 11055459BACKGROUND
  • Constantino JN, Davis SA, Todd RD, Schindler MK, Gross MM, Brophy SL, Metzger LM, Shoushtari CS, Splinter R, Reich W. Validation of a brief quantitative measure of autistic traits: comparison of the social responsiveness scale with the autism diagnostic interview-revised. J Autism Dev Disord. 2003 Aug;33(4):427-33. doi: 10.1023/a:1025014929212.

    PMID: 12959421BACKGROUND
  • Witmer C, Mattingly A, D'Souza P, Thurm A, Hadigan C. Incontinence in Phelan-McDermid Syndrome. J Pediatr Gastroenterol Nutr. 2019 Aug;69(2):e39-e42. doi: 10.1097/MPG.0000000000002342.

  • Khan OI, Zhou X, Leon J, Kessler R, Gaughan T, D'Souza P, Gropman A, Cohen N, Rennert O, Buckley A, Inati S, Thurm A. Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid Syndrome. Epilepsy Behav. 2018 Mar;80:312-320. doi: 10.1016/j.yebeh.2017.11.034. Epub 2018 Feb 3.

  • Soorya L, Leon J, Trelles MP, Thurm A. Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome. Clin Neuropsychol. 2018 Aug-Oct;32(7):1226-1255. doi: 10.1080/13854046.2017.1413211. Epub 2017 Dec 21.

  • Gaughan T, Buckley A, Hommer R, Grant P, Williams K, Leckman JF, Swedo SE. Rapid Eye Movement Sleep Abnormalities in Children with Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS). J Clin Sleep Med. 2016 Jul 15;12(7):1027-32. doi: 10.5664/jcsm.5942.

Related Links

MeSH Terms

Conditions

Nervous System DiseasesNeurodevelopmental DisordersMental DisordersAutistic DisorderLearning DisabilitiesGenetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Autism Spectrum DisorderChild Development Disorders, PervasiveCommunication DisordersNeurobehavioral ManifestationsNeurologic ManifestationsSigns and SymptomsPathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Ashura W Buckley, M.D.

    National Institute of Mental Health (NIMH)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Jessica M Vaughan, C.R.N.P.

CONTACT

Ashura W Buckley, M.D.

CONTACT

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 26, 2013

First Posted

January 29, 2013

Study Start

December 27, 2012

Primary Completion (Estimated)

February 20, 2029

Last Updated

April 20, 2026

Record last verified: 2025-07-08

Locations