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The Heterogenous Phenotype: Predicting Outcomes in ASD

Rebecca Grzadzinski PhD. Research Assistant Professor University of North Carolina at Chapel Hill. Carolina Institute for developmental Disabilities (CIDD)

Introduction

ASD has a complex heterogeneity in areas including

Genetic vulnerability, adaptive skills and IQ, sex/ geneder, resiliancy factors, co-occuring psychiatric conditions, age/ maturation/ development, langiage abilities, brain substrates, outcomes and response to treatment, co-occuring medical conditions, and environmental exposures.
With all this complexity it becomes very hard for families to pinpoint an intervention that will help their children
- On average parents spend 20 plus hours a week planning and attempting intervention causing a great deal of stress on families.

Children with ASD vary in their outcomes and treatment related change

Every child responds to ASD intervention extremely differently
Progress isn't linear; there is a lot of variability.
Children ho dont get proper help may see their skills decrease over time
- Problem: the field has struggled to find a standardized way to measure the changes in skill levels of aSD children over short periods of time.

Measuring ASD symptom change is very hard

The changes may be very subtle and hard to detect
Diagnostic tools are not sensitive enough
Relying on parent or clinical report has inherent bias.

Overview

In a review of 195 trials of intervention over 200 different outcome measures were used

There was a huge variety of measurement methods used
- Single studies
- Not flexible enough to be used across sites/ studies
- Time consuming
- Expensive
- Require substantial training and experience

Wanted to create a method that would alleviate some of these issues called BOSCC.

The goals include

Sensitive to changes over short periods of time
Observation = the objective
Standardized yet flexible procedure
Easy to use for whoever is applying the intervention

The coding scheme is applied to video observations and is based off of the autism diagnostic observation schedule (ADOS)
- ADOS is put on a scale from 0-2.
- Instead, BOSCC is put on a scale of 0-5 in order to accommodate for small nuances that may be present.
  - Zero says that abnormality is not present
  - 5 says that abnormality is present and significantly impairs functioning

Methods

Items included on the BOSCC are broken into categories

Social communication
- Eye contact
- Facial expressions
- Gestures
- Vocalization
- Integration of vocal and non vocal communication
- Social overtunes
- Social responses
- Engagement
- Play
Restricted, repetitive behavior (RRB)
- Unusual sensory interests
- hand/ finger/ body mannerisms
- repetitive/ stereotyped interests/ behaviors
Other abnormal behaviors
- Activity level
- Disruptive behavior/ irritability
- Anxious behaviors

All of these items were rated on a scale when it comes to quantity and quality of actions, behaviors, mannerism, etc.

Results

Study found inside and outside of the lab high inter-rater and test retest reliability.

BOSCC was able to detect significant amounts of change over a six month period compared to ADOS

BOSCC change aligns with receptive language change

These changes aligned with other measures over the same time period

BOSCC change aligns with parent report of communication change

Children with ASD vary in their outcomes and treatment-related changes

The BOSCC is a way to measure the variability and the variety of ASD related treatment outcomes

There are many things that change and influence a child's progress trajectory

It appears that children who start out with lower skills progress more than children who begin with middle of the range skills.
- This suggest that child's social skill severity may be a predictor of the treatment success and trajectory
Baseline cognitive skills can also impact the treatment trajectory.
Language qualities can also be a predictor for treatment trajectory.

Child sensory reactivity can lead to varied child outcomes
- Children with or a risk for ASD often display sensory reactivity which can include
  - Hypo-reactivity
  - Hyper-reactivity
  - Seeking behavior
- Child sensory responsivity impact outcome slike communications

Discussion

The study hypothesized that sensory domains at the age of 14 months and changes from 14 to 23 months may contribute to the heterogenous severity of ASD between 3 and 5 years of age.

Hypo and hyper reactivity can lead to later child ASD symptoms

Observation:

Increased hypo-reactivity at 14 months lead to an increase in ASD SA severity between the ages of 2-5 years

Parental report

Hyper-reactivity at 14 months increased ASD RRB severity between 3-5 years

The question is whether or not it is possible to intervene on these influencing factors and if so, can it lead to better outcomes

What is known

An increase in child hyporeactivity is associated with decreased child communication
An increase in hyporeactivity is associated with decreased parent verbal response (PVR)
And an increase in PVR is associated with an increase in child communication

Future Directions

Can parent verbal responsiveness ameliorate the impact of child hyporeactivity?

It is possible that parental responsiveness is a mediator between the relationship of child hypo-reactivity and the later decrease in child communication skills
- This is based on the idea that an increase in PVR is associated with an increase in parental affect which subsequently leads to an increase in parental sensitivity
- All of which are significant mediators

Looking at Qualities of the parent-child interaction