Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders

NCT ID: NCT01778504

Last Updated: 2025-12-31

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

1000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-12-27

Brief Summary

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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.

Detailed Description

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This is a diagnostic protocol designed to provide opportunities for identifying new clinical syndromes and permitting longitudinal assessments of a variety of childhood behavioral, psychiatric and developmental disorders. Disorders of particular interest are: autism, disorders of social cognition and other neurodevelopmental disorders; childhood psychiatric disorders and particularly those with acute symptom onset; and unique clinical presentations of pediatric behavioral syndromes, such as those associated with genetic disorders or those with a unique family history.

Objectives: The primary objective of this protocol is to evaluate a variety of behavioral, neuropsychiatric, and neurodevelopmental conditions. The protocol will allow OCD investigators to gain additional knowledge about the course of various childhood behavioral syndromes. The information obtained is expected to generate questions to be answered and hypotheses to be tested in future protocols.

Study Population: The number of participants to be enrolled will be set up to 1,000 probands (children, adolescents and adults).

Design: This is a natural history protocol. The cross-sectional portion of this study may include in-depth medical, sleep and neurodevelopmental assessments to evaluate the relationship of biological abnormalities with neuropsychiatric symptomatology. Standard therapeutic interventions may be utilized to evaluate their effects in well-characterized participants with unique clinical presentations. Participants also may be asked to return to NIH for periodic follow-up assessments, in order to facilitate the longitudinal assessment of natural and treated courses of illness as a means of better understanding their progression and pathophysiology.

Outcome Measures: No formal outcomes will be measured; however, the clinical assessments of enrolled participants may be used to evaluate correlates of clinical symptomatology and response to standard therapeutic interventions.

Conditions

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Neuropsychiatric Disorder Neurological Disorder Neurodevelopmental Disorder Sleep

Keywords

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Natural History Study Mental Illness Autism Developmental Delay Genetic Disorder Natural History

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Probands

Children, adolescents, and adults

No interventions assigned to this group

Relatives of Probands

1st, 2nd, and 3rd degree relatives

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

Participants will be eligible if they:

1. Are aged birth to 99 years
2. Have a diagnosed or undiagnosed neuropsychiatric disorder, neurodevelopmental disability or abnormal behaviors.
3. 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).
4. Are under the care of a primary physician.

Exclusion Criteria

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.
Minimum Eligible Age

1 Day

Maximum Eligible Age

99 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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National Institute of Mental Health (NIMH)

NIH

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Ashura W Buckley, M.D.

Role: PRINCIPAL_INVESTIGATOR

National Institute of Mental Health (NIMH)

Locations

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National Institutes of Health Clinical Center

Bethesda, Maryland, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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

Role: CONTACT

Phone: (301) 435-7958

Email: [email protected]

Ashura W Buckley, M.D.

Role: CONTACT

Phone: (301) 496-5190

Email: [email protected]

Facility Contacts

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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

Role: primary

References

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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.

Reference Type BACKGROUND
PMID: 11055459 (View on PubMed)

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

Reference Type BACKGROUND
PMID: 1528956 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 12959421 (View on PubMed)

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.

Reference Type DERIVED
PMID: 30921255 (View on PubMed)

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.

Reference Type DERIVED
PMID: 29402632 (View on PubMed)

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.

Reference Type DERIVED
PMID: 29265961 (View on PubMed)

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.

Reference Type DERIVED
PMID: 27166296 (View on PubMed)

Related Links

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Other Identifiers

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130028

Identifier Type: -

Identifier Source: org_study_id

13-M-0028

Identifier Type: -

Identifier Source: secondary_id