The Prevalence of Genetic Counseling and Testing Among Children with Autism Spectrum Disorder in a

Medical Home Clinic

• URLEND Mentors:Paul Carbone, M.D. Terisa Gabrielsen, Ph.D. Deborah Bilder, M.D.

• Team Members: Kristina Cottle, B.A. Shelley Woeste, DPT

• April 10, 2015

Leadership Project Purpose

To evaluate the role of genetic counseling and testing in a population of individuals enrolled in a medical home program that specializes in the care of children with developmental disorders.

Research Questions

1. Was genetic counseling discussed with the individual and family?

2. Was genetic testing completed with the individual?

3. What results were determined by the genetic testing?

4. Did the results affect future medical management of the individual?

Current Genetic Recommendations

(Feero & Guttmacher, 2012)

Genetic Tests used with Autism Spectrum Disorders

Genetic Tests & Recommendations for Autism Spectrum Disorders

Current Practice Recommendation: Chromosomal microarray (CMA) is a first-tier clinical diagnostic test for individuals with autism spectrum disorders.

Leadership Project Procedure and Methods

Project Planning and Team Charter September and October

CITI Training and Literature Search November

Determination of Data Variables November & December

Epic Training, Medical Chart Review and Data Collection January, February, & March

Coding Conditions and Data Clean-up March & April

Data Analysis April

Results

obesity sensory integration disorder headache obstructive sleep apnea

allergic rhinitis static encephalopathy depressive disorder metabolic

syndrome

sleep disturbance personality disorder dysphagia atopic dermatitis

hypertension dysphagia atopic dermatitis pica vaccine refusal poor

weight gain sleep disturbance obsessive compulsive disorder epilepsy

constipation bipolar affective disorder posttraumatic stress disorder

episodic mood disorder cerebral palsy oppositional defiant disorder

enuresis anxiety history of physical abuse history of sexual abuse

vitamin d deficiency self-injurious behavior underweight hypothyroidism

behavioral and emotional disorders with onset in childhood and adolescence

psychosis insomnia developmental delay abdominal pain asthma

mixed receptive-expressive language disorder disturbance of contact

feeding problems dysmenorrhea periodic limb movement disorder

restless leg syndrome tic disorder stereotypic movement disorder

ADHD acne congenital anomalies ulcers irritable bowel

syndrome

congential pes planus seasonal affective disorder high risk of aspiration

Results of Chart Review Problem List

Genetic Discussion and Testing Results

Next Steps

Submit Abstract April 24

Submit Paper to LEND May 1

Present at ITAC Autism CARES MeetingBethesda, MD July 16-17