The Prevalence of Genetic Counseling and Testing Among Children with Autism Spectrum Disorder in a Medical Home Clinic URLEND Mentors: Paul Carbone, M.D.

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Presentation transcript:

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

Results

obesity sensory integration disorderheadache obstructive sleep apnea allergic rhinitis static encephalopathy depressive disordermetabolic 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 disordercerebral palsy oppositional defiant disorder enuresis anxiety history of physical abusehistory of sexual abuse vitamin d deficiency self-injurious behaviorunderweight hypothyroidism behavioral and emotional disorders with onset in childhood and adolescence psychosis insomniadevelopmental delayabdominal painasthma mixed receptive-expressive language disorderdisturbance of contact feeding problemsdysmenorrheaperiodic limb movement disorder restless leg syndrometic disorder stereotypic movement disorder ADHDacne congenital anomalies ulcersirritable 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