3/4/2013 Diagnostic Teamwork: Why We All Need to Stick Together { GEAR UP! Families & Professionals Working Together for Michigan’s Children Who are Deaf & Hard of Hearing Introduction To improve early identification of hearing loss and intervention services for children of all ages by providing a learning experience for parents and professionals Purpose 1 3/4/2013 To provide practical information for parents/families about early diagnosis and intervention services for infants, children and youth who are deaf or hard of hearing  To increase the skills and knowledge base of professionals who work with children who are deaf or hard of hearing  Goals Julie Carlson Ellen Thomas Anita Vereb  Introductions The infant’s pediatrician, family physician, or other primary health care professional is in a position to advocate for the child and family.  Medical Home 2 3/4/2013 The infant’s pediatrician, family physician, or other primary health care professional is in the best position to advocate for the child and family?  Medical Home Primary Physician Family/Child Model  Prevalence of congenital hearing loss  ~3‐4 per 1000  Size of average pediatric practice ~1500 patients ~80‐90 new patients per year  ~1 new ID every few years   Problems with Model 3 3/4/2013 ? Primary Physician Family/Child Model Family/Child Model Questions? 4 3/4/2013  1‐3‐6 Goals Hearing Screening by 1 Month Comprehensive Audiologic Evaluation by 3 Months  Appropriate Intervention by 6 Months   Current State  Hearing Screening by 1 Month  27482/27622  98.2% 1 Month Goal  Comprehensive Audiologic Evaluation by 3 Months   39.3% Loss to Follow‐Up/Loss to Documentation Nationally 54.4% Loss to Follow‐Up/Loss to Documentation in Michigan 3 Month Goal 5 3/4/2013  Comprehensive audiologic evaluation  http://www.michigan.gov/documents/ mdch/Final_guidelines_2012_409853_7 .pdf 3 Month goal  Comprehensive audiologic evaluation 3 Month goal  Appropriate Intervention by 6 Months  What is appropriate intervention by 6 Months? 6 Month Goal 6 3/4/2013  Appropriate Intervention by 6 Months   30.6% Enrolled in Early Intervention in Michigan 66.5% Enrolled in Early Intervention Nationally 6 Month Goal  Appropriate Intervention by 6 Months 6 Month Goal Questions? 7 3/4/2013 Otolaryngologist Family/Child Medical Evaluation Medical Evaluation Every infant with a confirmed hearing loss should be evaluated by an otolaryngologist who has knowledge of pediatric hearing loss” – JCIH 2007  Components of Otolaryngologic Evaluation      Complete history and physical examination Imaging Consideration of genetic testing Consideration of other diagnostic testing Medical Evaluation 8 3/4/2013 Etiology of Congenital Hearing Loss  Available Studies         CBC Platelets ANA, RF, ESR TSH BUN, Cr, UA Glucose FTA‐ABS, RPR EKG  Identified Causes         Leukemia Fechtner Syndrome Autoimmune Pendred Alport Alstrom Syphilis Jervell and Lange‐ Nielsen Historical Approach  Very low diagnostic yield Mafong et al. 2002‐ 114 patients evaluated with full test battery  Multiple positives on routine laboratory testing, none associated with clinical disease  One prolonged QT‐ positive family history  Historical Approach 9 3/4/2013  Careful History   Focuses on acquired causes Identification of Risk Factors    Family History NICU Stay In utero infections  Congenital Cytomegalovirus (CMV) Current Approach Current Approach  Physical Examination      Identify otologic abnormalities Identify syndromic causes Genetics evaluation may be helpful Consideration of ophthalmology referral Additional testing as indicated  Genetic Testing Mutations in a single gene account for about half of non‐syndromic autosomal recessive hearing loss  GJB2 (Connexin 26)  Present in approximately 40% of patients with bilateral, severe to profound loss  Present in approximately 20% of patients with congenital hearing loss overall  Testing is widely commercially available  Current Approach 10 3/4/2013  Temporal Bone Imaging Identifies diagnostic information in approximately 30% of children with hearing loss  Provides prognostic information  Risk of progression  May impact options for management  Current Approach Temporal Bone Imaging  Careful history  Careful physical examination    Risk Indicators for hearing loss Otologic Disease Syndromic Conditions Imaging of the Temporal Bones Consideration of genetic testing/referral  Consideration of ophthalmology referral   Current Approach Summary 11 3/4/2013  What do you expect from the medical evaluation? Medical Evaluation Questions? How do your roles change as children transition to the school system?  What new team members come on board?  What is working well?  What opportunities for improvement exist?  Transition to School 12 3/4/2013 Questions? 13