Investigating Phenotypic Profiles of Children and Adolescents With ASD (Phenotyping)

Investigating Phenotypic Profiles of Minimally Verbal Children and Adolescents With ASD/Profiles of Abilities in Children and Adolescents With ASD

The purpose of this study is to provide a detailed description of language and cognitive profiles found among children and adolescents diagnosed with autism spectrum disorders (ASD). Participants with ASD ages 4-17;12 years who have limited verbal skills will be given comprehensive behavioral assessments to collect data that will advance our understanding of language-related processes in individuals with ASD, the knowledge of which will help in designing future interventions for this population.

Study Overview

• Status: Completed
• Conditions: Autism Spectrum Disorders
• Intervention / Treatment: Other: No intervention

Detailed Description

About 25% to 30% of children with ASD fail to acquire spoken language. This group of children and adolescents with ASD has been neglected in research conducted over the past 2 decades, in part because the field lacks the tools to assess them, and they often pose significant behavioral challenges that preclude their participation in research studies. Among the ~70% individuals with ASD who have spoken language skills, about 50% are language impaired; the remaining group have normal language scores on standardized tests. To date, studies of brain and cognitive mechanisms that underlie this heterogeneity in ASD remain limited. The goal of this study, which is part of the Autism Center of Excellence, is to provide a detailed description of phenotypic profiles found among minimally verbal individuals diagnosed with ASD. Participants with ASD ages 4 to 18 will be given comprehensive assessments, including standardized assessments of language, nonverbal cognitive abilities and adaptive functioning. Assessments will also include experimental tasks based on using eye-tracking, touch screen and electrophysiology technology (EEG), parent-report measures and parent-child interaction measures. The eye-tracking and touch screen assessments will target receptive language, word learning mechanisms, and social attention deployment to visual and auditory stimuli. The EEG/ERP assessments will target auditory processing and organization, with specific focus on mismatch negativity (MMN) markers of auditory processing. Based on these comprehensive assessments the investigators aim to generate a description of the cognitive-behavioral phenotypes common to minimally verbal autistic individuals. The investigators will also investigate age-related patterns in the development of behavioral phenotypes and the role of symptom severity in shaping phenotypic profiles in this population. The investigators expect that their findings will provide valuable insights into the etiology of profound expressive language deficits in a significant proportion of the ASD population and will lead to identifying subphenotypes within the minimally verbal population.

• Study Type: Observational
• Enrollment (Actual): 72

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02215
      • Boston University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 4 years to 18 years (ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Community sample

Description

Inclusion Criteria:

Subjects will be included if they have a formal diagnosis of ASD, are 4-18 years old, and have a very small repertoire of spoken words or fixed phrases that are used communicatively, and that are restricted to limited contexts and functions (e.g. requests with familiar adults).

Exclusion Criteria:

• have a history of significant neurological diseases, TBI, sensory impairment (e.g., significant visual or hearing impairment)
• English is not the primary language spoken in the household.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
ASD; There is only one group; minimally verbal individuals with Autism Spectrum Disorder aged 4 to 17 years.	Other: No intervention; Intervention is not a part of this study. This is a behavioral phenotyping study of minimally verbal individuals with Autism Spectrum Disorder.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Autism Spectrum Diagnosis	Interview	5 years
Adaptive Abilities	Interview	5 years
Cognitive Abilities	Interview	5 years
Language	Interview	5 years
Social Behavior	Interview	5 years
Repetitive Behavior	Questionnaire	5 years
Sensory Behaviors	Questionnaire	5 years
Atypical Behavior	Questionnaire	5 years
Psychopathology	Questionnaire	5 years
Emotion Regulation	Questionnaire	5 years
Handedness	Questionnaire	5 years
Electrophysiological Measures and Neural Oscillatory Patterns of Perception, Organization, and Analysis of Auditory scenes	Physiological parameter	5 years
Indices of social attention deployment measured by unobtrusively recording participants' eye-movements during the passive viewing of brief realistic video-clips.	Physiological parameter	5 years
Indices of electrodermal activity (EDA) measured wirelessly with the Q sensor (a small wearable device designed to work in real-world environments in an untethered, unobtrusive way).	Physiological parameter	5 years

Collaborators and Investigators

• Sponsor: Boston University Charles River Campus
• Collaborators: National Institutes of Health (NIH); National Institute on Deafness and Other Communication Disorders (NIDCD); Northeastern University

Publications and helpful links

General Publications

• Tager-Flusberg H, Kasari C. Minimally verbal school-aged children with autism spectrum disorder: the neglected end of the spectrum. Autism Res. 2013 Dec;6(6):468-78. doi: 10.1002/aur.1329. Epub 2013 Oct 7.

Helpful Links

• This is the website for our center.

Study record dates

Study Major Dates

• Study Start: November 1, 2014
• Primary Completion (ACTUAL): June 1, 2019
• Study Completion (ACTUAL): August 30, 2019

Study Registration Dates

• First Submitted: February 24, 2016
• First Submitted That Met QC Criteria: March 4, 2016
• First Posted (ESTIMATE): March 7, 2016

Study Record Updates

• Last Update Posted (ACTUAL): January 27, 2020
• Last Update Submitted That Met QC Criteria: January 22, 2020
• Last Verified: January 1, 2020

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Mental Disorders; Neurodevelopmental Disorders; Child Development Disorders, Pervasive; Autism Spectrum Disorder
• Other Study ID Numbers: 3646E; P50DC013027 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO