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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.
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
Received
Microarray
(N=22)
Mean
SD
Characteristics
Demographics
Age, y (Mean, SD)
Duration in HOME, y (Mean, SD)*
LIMITATIONS
RESULTS
METHODS
Gender
Male**
Type of Disability
ASD only
ID + ASD
Comorbid Psychiatric Disorder
ADHD
Anxiety
Mood Disorder
Psychosis/Schizophrenia
Comorbid Medical Condition
Epilepsy
Insomnia
Overweight
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
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
%
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
Total
(N=94)
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
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.