What Is Tourette Syndrome? A neurological syndrome characterized by multiple motor and vocal tics with onset before age 21 years Tics are involuntary,

What Is Tourette Syndrome?

A neurological syndrome characterized by multiple motor and vocal tics with onset before age 21 years

Tics are involuntary, repetitive, stereotyped movements that occur many times a day, nearly every day. Tics typically change anatomic location, frequency, type, complexity, and severity over time

Tics can be simple or complex Behavioral features of TS often include OCD,

ADHD, or both

History of Tourette Syndrome

First report in 1825 by Itard who described a French noblewoman with body tics, barking sounds and uncontrollable utterance of obscenities

Itard also described 7 men and 3 women with a variety of sudden, bizarre behaviors that we would now call tics

History of Tourette Syndrome

George Gilles de la Tourette described 8 patients in 1885 who all had motor tics 6 made noises (vocal tics) 5 shouted obscenities (coprolalia) 5 repeated words of others (echolalia) 2 mimicked others gestures (echopraxia)

Itard’s patient became the standard example and formed the basis for initial conceptualization that tics were progressive and degenerative

History of Tourette Syndrome

In early 1900s psychoanalytic school become dominant and attributed tics to repressed sexual impulses and/or conflict between parent and child resulting in deficits of will and character

Alternative views continued to be that tics were post-rheumatic and a variant of chorea or were hysterical

History of Tourette Syndrome

In the 1930s, developmental psychologists described tics as common among school-age children, but this was largely ignored by the neurological and psychoanalytic communities

Observations of heritability and response to dopamine receptor antagonists began to suggest a biological basis

Modern View of TS

Tic disorders are biological and likely involve the basal ganglia

Tourette syndrome is familial with incomplete penetrance and possibly variable expression Once thought to be a simple autosomal

inheritance, it now appears that the genetics are complex and there are significant environmental factors

Clinical Features of Tics

Median age of onset is 7 years Most common initial symptom is eye blinking

(36-48%) Most common misdiagnoses are eye problems and

allergies Vocal tics are presenting symptom in 12 - 37% Severity in childhood does not predict severity in

adulthood Severity is rarely greater in adulthood than in

childhood

Incidence of TS and Tics

Determination of incidence and prevalence is complicated

33% of patients with tics do not recognize some or all of their tics

Parents and teachers may not recognize tics Recent studies indicate that 5 – 6 % of school

children have tics at some time and that up 0.1 - 3% have chronic tics (> 1 year)

Natural History of TS and Tics

Tics tend to wax and wane throughout childhood and adolescence

Tics change in type, frequency and intensity Long-term prognosis (e.g., early adulthood) quite

favorable: 1/3 of patients experience resolution of tics 1/3 of patients have very mild tics 1/3 of patients continue to have persistent tics

Clinical Features of Tics

Tics are categorized as motor or vocal Any tic that produces a sounds from the nose of mouth is

a vocal tic Distinction between motor and vocal is based more on

history than on physiology. Muscle contraction underlies both types

Motor tics may be abrupt onset and fast ("clonic") or slow and sustained ("dystonic" or "tonic")

Clinical Features of Tics

Tics are also categorized as simple or complex Simple tics are individual movements that

typically look or sounds purposeless Complex tics resemble purposeful movements or

may be ensembles of more simple movements The tics are normal movements occurring in

an abnormal context and pattern

Simple Tics

Simple Motor Tics blinking, nose twitching, head jerking,

blepharospasm, oculogyric movements, bruxism, torticollis, sustained mouth opening, abdominal tensing

Simple Vocal Tics sniffing, throat clearing, grunting, squeaking,

screaming, coughing, blowing and sucking sounds

Complex Tics

Complex Motor Tics head shaking, trunk flexion, scratching,

touching, throwing, hitting, jumping, kicking, obscene gestures (copropraxia) or imitating gestures (echopraxia)

Complex Vocal Tics shouting of obscenities or profanities

(coprolalia), repetition of the words of others (echolalia), repetition of final syllable, word, or phrase of own words (palilalia)

Clinical Features of Tics

Premonitory feelings or sensory tics occur in 80% of patients with TS: Specific sensation (e.g. "itch", "dry

throat") Nonspecific urge or feeling such as

anxiety

Influencing Factors

Tics may change with emotional or cognitive state Decrease with distraction Increase with stress Increase during relaxation after a period of stress May be suppressible with effort; frequent

"rebound" increase afterward May persist in all stages of sleep

Classification of Tic Disorders - DSM-IV

Tourette Syndrome Multiple motor tics and at least one vocal tic Intermittently present for > 1 yr Onset before age 18 yrs

Chronic Motor or Vocal Tic Disorder (presence of only motor or vocal tics for greater than 12 months)

Transient Tic Disorder (presence of tics for more than four weeks but less than 12 months)

Tic Disorder Not Otherwise Specified

Associated Symptoms in TS

Majority of patients with TS have symptoms of ADHD or OCD at some point during the illness

50% incidence of both ADHD and OCD in TS (compared to 3-5% in gen. pop.)

These symptoms are often more bothersome or interfering than tics

Common Obsessive Symptoms In TS

Frequent and repetitive worrying (e.g., harm coming to self, family).

Preoccupation with need for order and routine (e.g., difficulty accepting change).

Repetitive thoughts, words, and phrases. Urges to perform forbidden or dangerous activities

(e.g., stick finger in fan, hot stove, etc.). Indecision, tendency to be unsure of self. Preoccupation with dirt/contamination

Common Compulsive Symptoms In TS

Need for order, routine, symmetry (“evening-up”). Repetitive checking and re-checking (e.g., doors,

appliances, belongings). Need for perfection, tendency to repetitively perform same

activity to ensure correctness. Repetitive touching of objects, persons (may be a complex

motor tic). Cleaning, washing, dressing rituals. Inability to tolerate certain types of clothing, foods touch

one another on the plate.

Neuropsychology of TS

Intellectual Ability/IQ Testing Learning Disabilities - Fact or Fiction? Specific Neuropsychological Deficits Potential Confounding Factors Influencing

Neuropsychological Function in TS

Intellectual Ability In TS

IQ Scores Normally Distributed in Epidemiological Studies (Apter et al, 1993)

Below Average IQ Reported in TS Clinic Samples (Parraga & McDonald, 1996) Verbal IQ > Performance IQ– Most studies failed to control for presence of

ADHD or LD (Bornstein, 1990) PIQ Subtests Primarily Assess Visuospatial

Function and Psychomotor Speed

Learning Disabilities in TS

No Long-Term Outcome Studies of the Learning Patterns in TS (Walkup et al., 1999)

LD in TS Highly Correlated with Presence of ADHD (Similar to that reported in ADHD children)

Prevalence of LD in TS Estimated to be 22% (Erenberg et al., 1986; Abwender et al., 1996)

Math and Written Language Skills Most Common Areas of Weakness (Burd et al., 1992; Brookshire et al., 1994; Schuerholz et al., 1996)

School Problems in TS

ADHD Significant Predictor of School Problems in TS (Abwender et al., 1996)

Higher Rate of Special Education Placement in TS (Comings et al., 1990; Kurlan et al., 1994)

Kurlan et al., Neurology, 2001: Epidemiological study of tic prevalence in Monroe

County, NY 1596 students directly evaluated (N=341, Spec. Ed,

N=1255, Reg. Ed) Spec. Ed - 23.4% weighted prevalence of tics Reg. Ed – 19.7% weighted prevalence of tics

Neuropsychological Deficits in TS

Visuomotor Deficits Consistent deficits noted on copying tasks (e.g.,

geometric designs) 10/12 Studies (N=308 TS patients, mean age of ~10

yrs) revealed individual deficits or group differences on various copying tasks (Schultz et al., 1999)

TS individuals perform about 1.0 SD below age norm Visuomotor Integration Deficits also Common in ADHD

Children

Neuropsychological Deficits in TS

Gross/Fine Motor Skill Literature equally compelling and similar

to that reported for visuomotor deficits Preponderance of studies suggest greater

fine motor skill deficits in TS Deficits in both TS adults and children

about 0.5-1.0 SD below unaffected controls (Schultz et al., 1998)

Neuropsychological Deficits in TS

Spatial/Perceptual Deficits Reported VIQ > PIQ suggest

spatial/perceptual problems in TS (? confounding factors)

Deficits largely due to difficulty with pure motor function and/or impaired visuoperceptual integration (Schultz et al., 1998)

Confounding Factor - Lack of studies employing motor-free spatial tasks

Neuropsychological Deficits in TS

“Executive” Function (EF) Loosely defined construct:

mental tracking, sustained attention, working memory planning and organization goal-directed behavior cognitive flexibility impulse control, self-regulation

EF Deficits also Common in ADHD (Barkley et

al., 1992) and in OCD (Hollander & Wong, 1996; Rosenberg et al., 1997)

Neuropsychological Deficits in TS

“Executive” Function (EF) No consistent EF deficit has emerged in TS Tasks of mental flexibility, planning and sequencing

most commonly cited Consistent findings of slowed response time on CPT

tasks Cirino et al., 2000:

No differences in card sorting performance between TS alone and TS+ADHD

Results suggest that executive dysfunction may occur in TS independent of co-morbid ADHD

Confounding Factors

Tic Disorder Itself: Natural history of waxing and waning tics Active (or passive) tic suppression Tic suppressing medications (e.g., neuroleptics,

clonidine) Co-Morbid Conditions (ADHD, OCD) Methodological Issues (sample sizes, use of

clinic samples)