THE RELATIONSHIP BETWEEN TS ___________________________________ AND - PDF document

Slide ___________________________________ 1 ___________________________________ THE RELATIONSHIP BETWEEN TS ___________________________________ AND AUTISM ___________________________________ ___________________________________ ROGER KURLAN, MD ___________________________________ 195 MOUNTAIN AVE, SPRINGFIELD, NJ ___________________________________ 973-850-4622 Slide ___________________________________ 2 ___________________________________ NOTE ___________________________________ THE RELATIONSHIP BETWEEN ASD AND TS HAS RECEIVED LITTLE ___________________________________ CLINICAL OR RESEARCH ATTENTION SO THE FOLLOWING INFORMATION SHOULD BE CONSIDERED PRELIMINARY. MUCH ___________________________________ MORE RESEARCH IS NEEDED. A KEY QUESTION: IS TS PART OF THE AUTISM SPECTRUM ___________________________________ DISORDER? ___________________________________ Slide ___________________________________ WORKING DEFINITIONS 3 ___________________________________ ___________________________________ TS: CHRONIC MOTOR AND VOCAL TICS ___________________________________ AUTISM SPECTRUM DISORDER (ASD): IMPAIRED SOCIAL INTERACTIONS ___________________________________ IMPAIRED COMMUNICATION ___________________________________ EMOTIONAL DETACHMENT ___________________________________

Slide ___________________________________ 4 ARE THEY RELATED? ___________________________________ ___________________________________ 1986: CASE OF THE “PINBALL WIZARD” COMMON CO-OCCURRENCE ___________________________________ 1991: 57 CO-OCCURRING CASES REPORTED ___________________________________ PREVALENCE RATES OF TS IN PATIENTS WITH ASD 1999: 8.1%, 6.5% ___________________________________ REPORTED RATES: UP TO 50% (METHODS DIFFER) ___________________________________ Slide ___________________________________ CLINICAL OVERLAPS 5 ___________________________________ ___________________________________ • “TS TRIAD”- TICS, OCD, ADHD • ECHOPHENOMENA ___________________________________ • SELF-INJURIOUS BEHAVIOR ___________________________________ • MOOD, ANXIETY DISORDERS • IMPULSE CONTROL PROBLEMS, RAGE ATTACKS ___________________________________ • LEARNING DISABILITIES ___________________________________ • ENVIRONMENTAL SENSITIVITIES (TOUCH, SOUND, LIGHT) Slide ___________________________________ COMMON ENVIRONMENTAL FACTORS 6 ___________________________________ • LOWER SOCIOECONOMIC STATUS ___________________________________ • PRENATAL STRESS ___________________________________ • ROLE OF IMMUNE RESPONSES ___________________________________ ALLERGIES (ENVIRONMENTAL, FOOD) ___________________________________ ABNORMAL IMMUNE TESTS ___________________________________ RESPONSE TO INFECTIONS

Slide ___________________________________ CLINICAL DIFFERENCES? 7 ___________________________________ AGE AT ONSET (18 MONTHS FOR ASD, 7 FOR TS) ___________________________________ STEREOTYPIES IN ASD ___________________________________ DO QUALITIES OF TICS DIFFER? • WAXING AND WANING ___________________________________ • CHANGE IN TYPES • NATURAL HISTORY- IMPROVEMENT VS REGRESSION ___________________________________ MOST TS PATIENTS DO NOT HAVE SOCIAL, EMOTIONAL, ___________________________________ COMMUNICATION PROBLEMS SEEN IN ASD Slide ___________________________________ COMMON MECHANISMS? 8 ___________________________________ • TRYPTOPHAN OXYGENASE GENE (SEROTONIN) ___________________________________ • ASD DUE TO HOMOZYGOSITY OF A TS GENE ___________________________________ • SHARED FRONTO-STRIATAL SUBSTRATE ___________________________________ • TICS COMMON IN RELATIVES OF ASD PATIENTS ___________________________________ • RARE COPY NUMBER VARIANTS • SHARED CANDIDATE GENES (SYNAPSE FORMATION, ___________________________________ EXCITATORY/INHIBITORY BALANCE) Slide ___________________________________ 9 ___________________________________ OUR OWN RESEARCH ___________________________________ ASD + TICS HAS DIFFERENT GENETIC ___________________________________ PATTERN THAN ASD + STEREOTYPIES OR ___________________________________ ASD ALONE ___________________________________ ___________________________________

Slide ___________________________________ TREATMENT ISSUES 10 ___________________________________ ___________________________________ • TICS IN TS AND ASD CAN RESPOND TO SAME MEDS • BEHAVIORAL TREATMENTS MAY BE LESS EFFECTIVE IN ASD ___________________________________ • TICS IN TOURETTISMS ARE LESS PREDICTABLY RESPONSIVE TO ___________________________________ MEDS ___________________________________ • MED RESPONSIVENESS FOR OCD, ADHD, ETC. UNKNOWN ___________________________________ Slide ___________________________________ CLASSIFICATION ISSUES 11 ___________________________________ ___________________________________ DSM CRITERIA FOR TOURETTE DISORDER ___________________________________ “TICS ARE NOT ATTRIBUTABLE TO ANOTHER ___________________________________ MEDICAL CONDITION” TOURETTISM- A SECONDARY FORM OF TICS ___________________________________ DOES DX OF ASD REQUIRE DEFICITS IN SOCIAL ___________________________________ INTERACTIONS, COMMUNICATION, EMOTIONS? Slide ___________________________________ CONCLUSIONS 12 ___________________________________ • TS AND ASD SHARE MANY CLINICAL FEATURES ___________________________________ • THERE MAY BE A FRONTAL-BASAL GANGLIA SUBTYPE ___________________________________ OF ASD (OTHERS: CORTICAL, AUTONOMIC, OCCIPITAL) • THERE ARE GENETIC SIMILARITIES AND DIFFERENCES ___________________________________ • SYNAPTIC FORMATION AND INHIBITORY/EXCITATORY ___________________________________ BALANCE APPEAR TO BE COMMON ABNORMALITIES • BETTER UNDERSTANDING OF ASD OR TS WILL BETTER ___________________________________ INFORM UNDERSTANDING OF THE OTHER