Kristina Cottle - Genetic Evaluation Among Children with Autism Spectrum Disorder (ASD) within a...
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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. BACKGROUND OBJECTIVE RESULTS LIMITATIONS METHODS CONCLUSIONS IMPLICATIONS • 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. • 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. • Studies suggest that genetic counseling and testing services are underutilized by families of children with ASD. • 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”. • 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. • 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 2. Results of Microarray Testing METHODS • Data were collected on the following variables: • Indication for genetic testing • History of receiving recommended genetic testing (CMA) • Results of CMA genetic testing • Co-occurring medical conditions • Co-occurring psychiatric diagnoses • Exclusion Criteria : ACKNOWLEDGMENTS • 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 Abbreviations: ID, intellectual disability; ASD, autism spectrum disorder; SD, standard deviation. † p ≤ 0.1 * p ≤ 0.05 ** p ≤ 0.01 • 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 • Small sample size • It may be possible that genetic evaluations for some children occurred but were not documented in HOME medical records • 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. • 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. • 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 Utah’s Utah Regional Leadership Education in Neurodevelopmental Disabilities. RESULTS • 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 • Fisher’s exact tests to identify the association between genetic testing status and patient characteristics/co-occurring conditions Patients enrolled in HOME during 2013 N=826 Patients with diagnosis of ASD or ASD/ID N=530 Pa#ents ≤17 years of age N=139 Patients excluded because family decided to pursue formal genetics consultation prior to pursuing genetic testing Patients excluded due to previously identified genetic syndrome associated with ASD Patients excluded because family declined genetic testing after a discussion with provider Total N=94 • 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. Characteristics Received Microarray (N=22) Did not Receive Microarray (N=72) Total (N=94) Mean SD Mean SD Mean SD Demographics Age, y (Mean, SD) 14.1 3.1 15.3 3.1 14.97 3.2 Duration in HOME, y (Mean, SD)* 4.8 1.9 6.1 2.5 5.8 2.4 N % N % N % Gender Male** 11 50.0 58 77.8 69 73.4 Type of Disability† ASD only 1 4.5 16 22.2 17 18.1 ID + ASD 21 95.5 56 77.8 77 81.9 Comorbid Psychiatric Disorder ADHD 11 50.0 46 63.9 57 60.6 Anxiety 15 68.2 49 68.1 64 68.1 Mood Disorder 13 59.1 43 59.7 56 59.6 Psychosis/Schizophrenia 1 4.5 2 2.8 3 3.2 Comorbid Medical Condition Epilepsy 8 36.4 22 30.6 30 31.9 Insomnia 20 90.9 63 87.5 83 88.3 Overweight † 11 50.0 20 27.8 31 33.0 Table 1. Selected Baseline Characteristics of Patients Who Received Microarray Compared with Patients Who Did Not Receive Microarray Results N=22 N % Positive Microarray 8 36.4 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
description
We describe the frequency of receiving a genetic evaluation by children with ASD through a university-based primary care medical home for individuals with developmental disabilities. The outcome variables examined were: (1) documentation of a discussion regarding recommended genetic tests and (2) genetic test completion.
Transcript of Kristina Cottle - Genetic Evaluation Among Children with Autism Spectrum Disorder (ASD) within a...
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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.
BACKGROUND
OBJECTIVE
RESULTS
LIMITATIONS
METHODS
CONCLUSIONS
IMPLICATIONS
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.
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.
Studies suggest that genetic counseling and testing services are underutilized by families of children with ASD.
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.
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.
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 2. Results of Microarray Testing
METHODS Data were collected on the following variables:
Indication for genetic testing History of receiving recommended genetic testing (CMA) Results of CMA genetic testing Co-occurring medical conditions Co-occurring psychiatric diagnoses
Exclusion Criteria:
ACKNOWLEDGMENTS
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
Abbreviations: ID, intellectual disability; ASD, autism spectrum disorder; SD, standard deviation. p 0.1 * p 0.05 ** p 0.01
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
Small sample size It may be possible that genetic evaluations for some
children occurred but were not documented in HOME medical records
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.
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.
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.
RESULTS
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
Patients enrolled in HOME during 2013
N=826
Patients with diagnosis of ASD or ASD/ID N=530
Pa#ents 17 years of age N=139
Patients excluded because family decided to pursue formal genetics
consultation prior to pursuing genetic testing
Patients excluded due to previously identified genetic syndrome
associated with ASD
Patients excluded because family declined genetic testing after a
discussion with provider
Total N=94
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.
!
Characteristics Received
Microarray (N=22)
Did not Receive Microarray
(N=72)
Total (N=94)
Mean SD Mean SD Mean SD Demographics
Age, y (Mean, SD) 14.1 3.1 15.3 3.1 14.97 3.2 Duration in HOME, y (Mean, SD)* 4.8 1.9 6.1 2.5 5.8 2.4 N % N % N % Gender Male** 11 50.0 58 77.8 69 73.4 Type of Disability
ASD only 1 4.5 16 22.2 17 18.1 ID + ASD 21 95.5 56 77.8 77 81.9 Comorbid Psychiatric Disorder ADHD 11 50.0 46 63.9 57 60.6 Anxiety 15 68.2 49 68.1 64 68.1 Mood Disorder 13 59.1 43 59.7 56 59.6 Psychosis/Schizophrenia 1 4.5 2 2.8 3 3.2 Comorbid Medical Condition Epilepsy 8 36.4 22 30.6 30 31.9 Insomnia 20 90.9 63 87.5 83 88.3 Overweight 11 50.0 20 27.8 31 33.0
Table 1. Selected Baseline Characteristics of Patients Who Received Microarray Compared with Patients Who Did Not Receive Microarray
!
Results N=22
N % Positive Microarray 8 36.4 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
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