Neuropsychiatric DisorderNCT01778504
Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
An observational study of Neuropsychiatric Disorder and Neurological Disorder, run by National Institute of Mental Health (NIMH) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 30 days to 99 years
- Conditions the study is for
- Neuropsychiatric Disorder, Neurological Disorder, Neurodevelopmental Disorder
- How many people
- 237 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Dec 2012to 24 Jul 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 30 days to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Up to 1000 people with psychiatric, behavioral, or developmental disorders will be enrolled in this study.
Who may be able to join
- Participants will be eligible if they:
- Are 30 days to 99 years old.
- Either:
- -Have a diagnosed neuropsychiatric disorder or neurodevelopmental disability or related symptoms without a formal diagnosis
- OR
- -Are a biological relative of someone who meets the criteria above.
- Have the ability to understand and sign an informed consent on behalf of themselves, or have a legal guardian (or designated DPA).
- Are under the care of a primary physician.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Diagnosis of Childhood-onset Behavioral Disorders, Neuropsychiatric Disorders and Neurodevelopmental Disorders
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.
Read more
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.
Read the detailed description
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.
- Keywords
- Natural History Study, Mental Illness, Autism, Developmental Delay, Genetic Disorder, Natural History
- Medical subject headings
- Nervous System Diseases, Neurodevelopmental Disorders, Mental Disorders, Autistic Disorder, Learning Disabilities, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Probands | Children, adolescents, and adults | |
| Relatives of Probands | 1st, 2nd, and 3rd degree relatives |
What is being measured
The primary outcome is the main question the study is designed to answer.
clinical assessments
to evaluate correlates of clinical symptomatology and response to standard therapeutic interventions.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jan 2013 (estimated)
- Study start27 Dec 2012
- Primary completion24 Jul 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Neuropsychiatric DisorderStudies of the same condition, open and under way.
- More trials run by National Institute of Mental Health (NIMH)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 237 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Institute of Mental Health (NIMH)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Ashura W Buckley, M.D., Principal investigator, National Institute of Mental Health (NIMH)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01778504
- Sponsor's protocol ID
- 130028
- Other IDs
- 13-M-0028
- Status last verified
- 6 Oct 2026
- First submitted
- 26 Jan 2013
- Last updated
- 26 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Beneke M, Rasmus W. "Clinical Global Impressions" (ECDEU): some critical comments. Pharmacopsychiatry. 1992 Jul;25(4):171-6. doi: 10.1055/s-2007-1014401.
PubMed 1528956Bodfish 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.
PubMed 11055459Constantino 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.
PubMed 12959421Witmer 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.
PubMed 30921255Khan 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.
PubMed 29402632Soorya 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.
PubMed 29265961Gaughan 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.
PubMed 27166296
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diagnosis of Childhood-onset Behavioral Disorders, Neuropsychiatric Disorders and Neurodevelopmental Disorders
- ClinicalTrials.gov ID
- NCT01778504
- Acronym / sponsor ID
- 130028
- Keywords
- Natural History Study, Mental Illness, Autism, Developmental Delay, Genetic Disorder, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 237 participants (actual)
- Lead sponsor
- National Institute of Mental Health (NIMH)US National Institutes of Health
- Study start
- 27 Dec 2012 (actual)
- Primary completion
- 24 Jul 2025 (actual)
- First posted
- 29 Jan 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Probands | – | –Children, adolescents, and adults |
| Relatives of Probands | – | –1st, 2nd, and 3rd degree relatives |
Who may qualify
- Ages
- 30 days to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Up to 1000 people with psychiatric, behavioral, or developmental disorders will be enrolled in this study.
Key inclusion criteria (8 listed)
- Are 30 days to 99 years old.
- Either:
- -Have a diagnosed neuropsychiatric disorder or neurodevelopmental disability or related symptoms without a formal diagnosis
- OR
- -Are a biological relative of someone who meets the criteria above.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
clinical assessments
Time frame: Ongoing
to evaluate correlates of clinical symptomatology and response to standard therapeutic interventions.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Oct 2026.
- Background: PubMed 1528956Beneke M, Rasmus W. "Clinical Global Impressions" (ECDEU): some critical comments. Pharmacopsychiatry. 1992 Jul;25(4):171-6. doi: 10.1055/s-2007-1014401.
- Background: PubMed 11055459Bodfish 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.
- Background: PubMed 12959421Constantino 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.
- Derived from this study: PubMed 30921255Witmer 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.
- Derived from this study: PubMed 29402632Khan 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.
- Derived from this study: PubMed 29265961Soorya 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.
- Derived from this study: PubMed 27166296Gaughan 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.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ashura W Buckley, M.D. principal investigator
National Institute of Mental Health (NIMH)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neuropsychiatric Disorder and Neurological Disorder, run by National Institute of Mental Health (NIMH) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 26 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
clinical assessments (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01778504, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Oct 2026.