Tourette‘s Syndrome

妥瑞氏症

長庚兒童醫院 兒童心智科

歷史發展

• 1885: 法國醫師 Georges Gilles de la

Tourette 首先提出相關病例

• 1893: Freud提出Frau Emmy von N 之病例:情緒障礙伴隨有身體不自主運動

生物與心理交互作用之產物

• The pioneering work of Drs. Arthur and Elaine Shapiro in 1960s

• The introduction of Haloperidol in 1970s

• The development of developmental psychopathology, developmental neuroscience, developmental psychology and child psychiatry

• Tourette’s syndrome becomes our hysteria– the model disorder for exploring mind- brain relationships in health and disease

甚麼是妥瑞氏症?

甚麼是Tics?

• 短暫的 無法控制的 正常的 動作或聲音

• 突然的 重複的 刻板的 動作或聲音

• 發作時常使用一整批肌肉

• 正常行為中的一部份

• Tics 因出現的地點 數目 頻率 長度強度及複雜性而區分為不同型態

Motor tics (動作tics)

Simple motor tics(單純動作tics)• 突然的

• 短促的 通常少於1秒

• 年幼的個案常完全不自知

Face Eye blinking, eye movement,grimacing,

nose twitching, mouth movement, lip

pouting, frowning

Head Head jerks, jaw snap, tooth clicking

Shoulder Shoulder shrug

body Arm jerk, abdominal tensing, kicks, finger

movement, rapid jerking of any part of the

body

Fractal character of the temperal occurance of

tics

• ---------------IIIIIII-----------------IIII---------------IIIIII-----------------IIIIIII-------

• seconds

•

• ----------------III-------------IIIIII--IIIIII---III-------------------------IIIIII--------------

• hours

• ----------------III--III-----------------------------------------III---III---IIIII---------------

• days

•

• -----------------III-----------------------III--IIIIII---IIIII-----------------III---------------

• weeks

•

• ------------------III----------------------III----IIIII--------IIIIIIIII----------------IIII-----

• months

Complex motor tics (複雜動作tics)

複雜動作tics的例子Face Sustained look, facial gestures, biting

the mouth or lip,kissing, sticking out

the tongue, rolling eye upwards or

side to side

Body Bending, gyrating, hopping,

clapping,dystonic posture, touching

objects or self, throwing, banging,

thrusting arms, self abusive acts,

gestures with hands, writing

movements, copropraxia, picking

scabs,tearing papers ,pulling pencil

while writing….

Degree of impairment

• Frequency 頻率

• Forcefulness 用力程度

• Complexity 複雜性

• Duration 時間長度

• Impact on self esteem, family life 對自身響

• Social acceptance 社會接受度

• School or job functioning’physical well being對生活功能影響

聲音tics (Phonic tics)

• 大多在motor tics發生後才出現

• 好發於8 至 15 歲之間

• 少於5 %的個案只有 phonic tics的症狀

• 發展方式一般由短暫的情形衍生為長時間的

• 單純simple phonic tics: sudden,meaningless

sounds or noise

• 複雜complex phonic tics: sudden, more

meaningful utterance

phonic tics的例子

Simple phonic tics

• Throat clearing,

coughing, sniffling,

spitting, screeching,

barking, grunting,

gurgling, clacking,

hissing, sucking……

Complex phonic tics

• Syllables, words,

phrases, statements,

speech atypicalities

(rhythms, tones,

accents, intensity of

speech), echo

phenomenon,coprolali

a

Vocal tics的各種理論

• Failure of the gating of cortico-thalamo-striato-cortical circuits?

• Stimulation of Cingulate cortex, supplementory motor area may also produce vocalization

• A bias toward sexual contents

• Determine by phonologic content or semantics?

• Hearing people use

obscenities because of its

lingual consonants and

phonation?

• The meaning of the

obscenities is the prime

determinant?

手語tics (Sign language tics)

• A 29 y/o prelingually

deaf man with

chronic motor tics

• palm back finger

spelled obscene

words combined with

grabbing of genitals

• A woman with preexisting TS

• Learn sing language and develop sign language tics

The idea underlying coprolalia is more important than the phonology of the utterance!

Premonitory sensory urges

• 約在Tics開始後三年會產生此種感覺

• 75-90% of TS patients had this urge, 92 % reported that the tics are partly or wholly voluntary in character!

• 此種感覺有時比tics更亦使人不舒服及分心

• The existence of premonitory urges is considered an important sign of the involvement of a cortico-striao-thalamo-cortical circuit on the production and maintenance of tic smptoms

premonitory urges出現的地點

• Shoulder girdle, throat, hands, midline of

the stomach, front of the thighs and feet are

hot spots

• Scalp, neck, upper arms

abdomens, have the

second highest density

TS的其他特質– 依賴刺激源

• 許多行為問題 More behavioral problems

beside ADHD and OCD

• 45% 社會及學習問題social difficulties and

problematic academic achievement

• 易罹患憂鬱症High rates of depressive concerns

TS in child psychiatry settings

Wodrich et al

1997, J Am Acad Child Adolesc Psychiatry

Cross cultural review

…

中國人病患之臨床表徵

• Retrospective study

• Interview

• Age of onset: 7+ 2.3

• Age of onset of coprolalia:

8.5+ 2.6

• Duration of illness:5.6 +1.8

• % of coprolalia : 44%

• Retrospective study

• Interview, SCL-90R

• Age of onset: 9.6+ 3.7

• M:F= 7.6:1

• Eye-blinking: most common

• Age of onset of coprolalia: 11.6+4.3

• Duration of treatment:4.7+3.9

• % of coprolalia : 44.1%

• older patients reported more emotional distress, and younger patients showed more somatization and obsessive-compulsive symptoms

診斷及分類的困難

• 沒有敏感及專門的診斷工具

• 診斷完全仰賴病史及臨床病徵

• 診斷標準完全仰賴智慧人士的準則

• 屋

TS —過動症

•

—

SIB in TS

• Investigations have reported SIB in 33- 53% of TS patients

• 23 types of SIB: head banging(47%, most common), body punching/slapping, head or face punching/slapping, banging or poking sharp objects into body, scratching of parts of body, inflicting severe eye injuries.

• SIB is related to hostility and obsessionality.

• Psychosurgery may be indicated

• Mild TS cases may also have SIB

病因Aetiological aspects

• Mixed model– Walkup et al, 1996

• 家族研究: French Canadian family–linkage at 11q23

• 手足研究: Sib- pair study: chromosome 4q and 8p

• Stress diathesis model--Leckman— The clinical expression of TS is a product of an inherited vulnerability with environmental factors

危險因子

• Genetic vulnerability

• Gestational and perinatal risk factor (25% birth complication in TS)

1. Severe nausea and vomiting during the first trimester

2. Severe psychosocial stress of the mother during pregnancy

3. Maternal use during pregnancy of coffee (more than 2 ups per day), cigarettes(more than 10 a day), or alcohol(fewer than 2 drinks a day)

4. Identical twin with low birth weight

5. Low birth weight children with evidence of parenchymal lesions, ventricular enlargement or both

6. Transient hypoxia or ischemia during birth(labor> 24 h), use of forceps, evidence of fetal distress

7. Low 5min Apgar scores

• Recurrent streptococcal infections with post-infectious

autoimmune response—PANDAS(pediatric

autoimmune neuropsychiatric disorder associated with

streptococcal infection)

• A clinical spectrum between TS and Sydenham’s

chorea( a variant of rheumatic fever neurological

involvement ,OCD symptoms and vocal tics

• Increase antineuronal antibodies in the sera of both

patients

• Severe psychosocial trauma, recurrent daily stresses or high level of emotional excitement (heightened reactivity of the hypothalamic-pituitary-adrenal axis)

• Drug abuse

1. Exposure to androgenic drug

2. Chronic intermittent use of cocaine and other psychostimulants

• Co-existing medical or psychiatric disorders

1. ADHD

2. LD

3. Depression

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