Genetic Evaluation Among Children with Autism Spectrum Disorder (ASD) within a

Medical Home for Individuals with Developmental Disabilities

Paul S. Carbone, MD; Kristina J. Cottle, M.Ed.; Shelley Woeste, DPT; Laila Andoni, M.S., LCGC; Terisa Gabrielsen, PhD; Deborah Bilder, MD
All poster authors have documented that they have no financial relationships to disclose or conflicts of interest to resolve.

OBJECTIVE
To examine the proportion and characteristics of
children with autism spectrum disorder (ASD)
enrolled in the University of Utah Neurobehavior
HOME Program (HOME) who received
chromosomal microarray (CMA) testing.

BACKGROUND
The American College of Medical Genetics, the
American Academy of Pediatrics, and the
American Academy of Neurology all recommend
genetic testing with CMA for children with ASD, if
an initial evaluation to identify known syndromes
or associated conditions is negative.

We hypothesized that children with ASD in

HOME would experience a high frequency of
CMA testing because it is a covered benefit for
pediatric HOME enrollees with ASD.

METHODS
The study sample consisted of all HOME patients
with a diagnosis of ASD who were 17 years of age
and were enrolled in HOME during 2013 (N=139).
Medical records abstraction was performed to identify
the genetic testing status of children with ASD.
Two cohorts of children were identified within the
University of Utah HOME Program:
1. Children who received microarray testing
2. Children who did not receive microarray testing

Table 1. Selected Baseline Characteristics of Patients Who Received Microarray

Compared with Patients Who Did Not Receive Microarray

Indication for genetic testing

Received
Microarray
(N=22)
Mean
SD

Characteristics

History of receiving recommended genetic testing (CMA)

Results of CMA genetic testing
Co-occurring medical conditions

Demographics
Age, y (Mean, SD)
Duration in HOME, y (Mean, SD)*

Co-occurring psychiatric diagnoses

Exclusion Criteria:
Patients enrolled in HOME during
2013
N=826

Patients with diagnosis of ASD or

ASD/ID
N=530

Reasons for the underutilization of genetic

services could include: unawareness of this
recommendation by primary care providers;
insufficient insurance coverage for CMA testing;
parent refusal; poor access to genetic services.
HOME is an interdisciplinary lifespan clinic that
provides co-located primary medical and mental
health services. Thirty percent of HOME
enrollees are children, 85% of whom have ASD.
Most children with ASD served in HOME also
have co-occurring intellectual disability, hereafter
referred to as ASD/ID.

Data were collected on the following variables:

Studies suggest that genetic counseling and

testing services are underutilized by families of
children with ASD.

Pa#ents 17 years of age

N=139

Patients excluded because family

declined genetic testing after a
discussion with provider

Patients excluded due to previously

identified genetic syndrome
associated with ASD

LIMITATIONS

RESULTS

METHODS

Patients excluded because family

decided to pursue formal genetics
consultation prior to pursuing
genetic testing

Gender
Male**
Type of Disability
ASD only
ID + ASD
Comorbid Psychiatric Disorder
ADHD
Anxiety
Mood Disorder
Psychosis/Schizophrenia
Comorbid Medical Condition
Epilepsy
Insomnia
Overweight

Did not Receive

Microarray
(N=72)
Mean
SD

Analysis:
Descriptive statistics for patient characteristics and presence of co-occurring
diagnoses for total sample and stratified by genetic testing status
Frequency and results of CMA testing
Fishers exact tests to identify the association between genetic testing status and
patient characteristics/co-occurring conditions

RESULTS
CMA was performed on 23% (N=22) of eligible participants
Children who received microarray testing were more likely to be diagnosed with ASD/ID
Children who did not receive microarray testing were more likely to be:
Male
Overweight
Enrolled in the HOME Program for a longer duration of time
Deletions and duplications found through CMA testing were associated other conditions
such as: Phelan-McDermid syndrome, epilepsy, heart defects, and schizophrenia

Mean

SD

Small sample size

14.1
4.8
N

3.1
1.9
%

15.3
6.1
N

3.1
2.5
%

14.97
5.8
N

3.2
2.4
%

It may be possible that genetic evaluations for some

children occurred but were not documented in
HOME medical records

11

50.0

58

77.8

69

73.4

CONCLUSIONS
Recommended genetic testing with CMA within a
sub-specialty medical home for children with ASD is
higher than previously reported (7-17%), although
well below the universal recommendation.

1
21

4.5
95.5

16
56

22.2
77.8

17
77

18.1
81.9

11
15
13
1

50.0
68.2
59.1
4.5

46
49
43
2

63.9
68.1
59.7
2.8

57
64
56
3

60.6
68.1
59.6
3.2

8
20
11

36.4
90.9
50.0

22
63
20

30.6
87.5
27.8

30
83
31

31.9
88.3
33.0

Abbreviations: ID, intellectual disability; ASD, autism spectrum disorder; SD, standard deviation.
p 0.1
* p 0.05
!
** p 0.01

Table 2. Results of Microarray Testing

Total N=94

Total
(N=94)

The diagnoses of ASD, ID, comorbid psychiatric and

medical diagnoses were obtained through billing
records and confirmed with chart review; however,
patients were not required to have testing results
(i.e., IQ, ADOS, ADI) to verify diagnosis

Results

N=22
N
8

%
36.4

Positive Microarray
Results
Deletion Location
6
75.0
Chromosome 4
2
25.0
Chromosome 2
1
12.5
Chromosome15
1
12.5
Chromosome 22
1
12.5
Chromosome 3
1
12.5
Duplication Location
2
25.0
Chromosome 1
1
12.5
Chromosome X
1
12.5
Results of Testing
End of diagnostic odyssey
Referral to genetics and other health care specialties
Participation in advocacy and support group
Changes in medications
Genetic testing for other family members

Higher rates of testing may be attributable to specific

attributes of HOME (provider awareness of testing
recommendations, insurance coverage for genetic
testing, longer visits) or caregivers of HOME
enrollees (higher level of knowledge and interest
regarding genetic testing).
Female gender and the presence of co-occurring ID
were associated with CMA testing, while the
presence of obesity was inversely associated with
CMA testing for children with ASD.
The proportion of positive results (36.4%) from CMA
testing in our cohort of children with ASD was higher
compared with the proportion seen in other studies
(ranging between 12% and 25%) and may be related
to the high prevalence of ID and associated
psychiatric and medical comorbidities in our sample.

IMPLICATIONS
The sub-optimal frequency of CMA testing in this
subspecialty medical home setting highlights the
challenge in following ASD genetic
recommendations and merits further investigation
into the barriers that impede the implementation for
these recommendations.
Primary care providers should become familiar with
recommendations for genetic testing of children with
ASD and initiate discussions with families regarding
testing.

ACKNOWLEDGMENTS
We are grateful for the participation of the HOME
Program clients and the support provided by
Mackenzie Damron, Nirupma Singh, Kim
Treadway, and Lisa Ruiz, MD. The activities of all
authors were supported through the University of
Utahs Utah Regional Leadership Education in
Neurodevelopmental Disabilities.