Etiology and Early Diagnosis of Neurodevelopmental Disorders

The purpose of this study is to systematically evaluate the results of medical investigations to identify symptom and biological patterns and common etiologies of neurodevelopmental disorders.

Study Overview

• Status: Active, not recruiting
• Conditions: Neurodevelopmental Disorders

Detailed Description

Although neurodevelopmental disorders are very prevalent (for example Autism affects 1 out of every 88 children and dyslexia affects up to 15% of the population), the etiology of such disorders is not known. The purpose of this investigation is to identify common etiologies of neurodevelopmental disorders (i.e., speech delay, global developmental delay, autism) and determine if it is possible to find early indicators of the diagnosis and foster the potential for a better prognosis of these disorders. At this time the investigators examine patients with neurodevelopment disorders with various medical investigations, but the results of these investigations are not systematically evaluated. One of the goals of this research is to systematically examine this information in order to identify patterns of test abnormalities that have not been previously described. Another goal of this research is to identify the common etiologies typically identified by the medical evaluation, so we can further refine our approach. In addition, the investigators now have the ability to evaluate biological samples for biomarkers that have potential to be diagnostically useful.

• Study Type: Observational
• Enrollment (Actual): 576

Contacts and Locations

Study Locations

• United States
  • Arkansas
    • Little Rock, Arkansas, United States, 72205
      • Arkansas Children's Hospital Research Institute

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 99 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Children who present to various Arkansas Children's Hospital Outpatient clinics for standard care related to neurodevelopmental disorders.

Description

Inclusion Criteria:

• Neurodevelopmental delays
• Clinical visit at an Arkansas Children's Hospital Outpatient clinic

Exclusion Criteria:

• none

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Neurodevelopmental Disorders; Children who present to various Arkansas Children's Hospital clinics for standard care related to neurodevelopmental disorders.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Medical abnormalities associated with specific neurodevelopmental disorders	It is unknown if a specific set of biological abnormalities contribute to the formation of many types of neurodevelopmental disorders. The study is intended to identify the relationship between biological abnormalities and neurodevelopmental disorders	up to 7 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Biomarkers associated with neurodevelopmental disorders	It is unknown if a specific biomarkers are associated with specific neurodevelopmental disorders. The study is intended to identify the relationship between biological abnormalities and neurodevelopmental disorders	up to 7 years
Treatments associated with neurodevelopmental disorders	Various behavioral and medical treatments are used for many types of neurodevelopmental disorders but the effectiveness for many of these treatments is not known. The study is intended to identify the relationship between biological abnormalities (and their treatments) and neurodevelopmental disorders	up to 7 years

Collaborators and Investigators

• Sponsor: University of Arkansas
• Collaborators: Arkansas Children's Hospital Research Institute
• Investigators: Principal Investigator: Shannon Rose, PhD., Arkansas Children's Hospital Research Instisute; UAMS

Publications and helpful links

General Publications

• Frye RE, Lionnard L, Singh I, Karim MA, Chajra H, Frechet M, Kissa K, Racine V, Ammanamanchi A, McCarty PJ, Delhey L, Tippett M, Rose S, Aouacheria A. Mitochondrial morphology is associated with respiratory chain uncoupling in autism spectrum disorder. Transl Psychiatry. 2021 Oct 13;11(1):527. doi: 10.1038/s41398-021-01647-6.

Helpful Links

• To see a list of current clinical Trials at Arkansas Children's Hospital, click here!!

Study record dates

Study Major Dates

• Study Start: May 1, 2012
• Primary Completion (Estimated): June 1, 2024
• Study Completion (Estimated): June 1, 2024

Study Registration Dates

• First Submitted: November 25, 2013
• First Submitted That Met QC Criteria: December 2, 2013
• First Posted (Estimated): December 6, 2013

Study Record Updates

• Last Update Posted (Actual): December 1, 2023
• Last Update Submitted That Met QC Criteria: November 30, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Keywords: Autism; Genetic disorder; Autism Spectrum Disorder (ASD); Mitochondrial disorder; Developmental delays; Pervasive Developmental Disorder (PDD)
• Additional Relevant MeSH Terms: Mental Disorders; Neurodevelopmental Disorders
• Other Study ID Numbers: 136272