Childhood Movement Disorders Alessandro Capuano, MD, PhD Federica Graziola, MD
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1 Childhood Movement Disorders Alessandro Capuano, MD, PhD Federica Graziola, MD Movement Disorders Center Department of Neuroscience Bambino Gesù Pediatric Hospital, Rome
2 Two categories: Approach to diagnosis PHENOMENOLOGY OF MD Hyperkinetic movement disorders Tremor, chorea, dystonia, myoclonus, tics, stereotypies Hypokinetic movement disorders - akinetic/rigid disorders. Parkinsonism manifest primarily in adulthood as Parkinson s disease/ Parkinsonism, uncommon in children.
3 Brief, rapid irregular jerks Random in place and time Approach to diagnosis PHENOMENOLOGY OF MD: CHOREA From one part of the body to the other Accompanied with hypotonia Typical: Hyperpronation of the outstretched hands and wax and waning of the intensity of the hand grip Clinical features: Jack in the box sign darting tongue sign Milkmaids grip Saint Vituss s dance Spooning s sign
4 Approach to diagnosis PHENOMENOLOGY OF MD: DYSTONIA Dystonia defined as sustained or repetitive involuntary muscle contractions that produce abnormal but patterned postures and movements of different parts of the body PHYSICAL SIGN DESCRIPTION Dystonic posture Dystonic movements Gestes antagonists (tricks) Mirror dystonia Overflow dystonia A body part is flexed or twisted along its longitudinal axis Movements may be fast or slow, the twisting nature reveals the dystonic nature of the movement (es: dystonic tremor) Simple touches alleviate the dystonic posture (sensory tricks) During repetitive tasks of the affected body unaffected parts of the body show mirror movements Spread of dystonia in other parts of the body
5 Approach to diagnosis PHENOMENOLOGY OF MD: TICS Sudden, brief action Preceded by urge to perform action Followed by sense of relief Motor tics usu. involve face, neck Vocal tics variable, can be elaborate Etiology Tourette s syndrome Idiopathic tic disorders 2ary to encephalitis, infarcts, hemorrhage, tumors
6 Tourette Syndrome Neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics Typical onset in early childhood or adolescence between the ages of 2 and 16
7 Tourette Syndrome: History In 1825, Itard described the case of the Marquise de Dampierre, a French noblewoman Beginning at age 7, she reportedly ticked and blasphemed Persisted until her death at age 86
8 History: Georges Gilles de la Tourette Georges Gilles de la Tourette French neurologist, student of Charcot Interest in hysteria, hypnotism In 1885, published paper describing malidie des tics Study of 9 patients, including Marquise de Dampierre Patients characterized by convulsive tics, obscene utterances, repetition of others words Charcot renamed it Gilles de la Tourette Syndrome
9 What are tics? Repetitive, sudden, involuntary or semivoluntary movements or sounds Non-rhythmic May appear as exaggerated fragments of ordinary motor or phonic behaviors that occur out of context Classification Motor or Phonic (vocal) Simple or complex
10 Motor Tics Simple motor tics Involve single muscle or functionally related group of muscles Fast and brief, lasting <1 sec May occur in bouts of rapid succession Complex motor tics Involve more muscle groups Sequentially and/or simultaneously produced movements May appear purposeful
11 Phonic Tics Phonic vs. Vocal Simple phonic tics Single, meaningless sound or noise Complex phonic tics Linguistically meaningful utterances and verbalizations
12 Motor tics Simple Eye blinking Nose wrinkling Jaw thrusting Shoulder shrugging Wrist snapping Neck jerking Limb jerking Abdominal tensing Complex Hand gestures Facial contortions Jumping Touching Repeatedly smelling object Squatting Copropraxia Echopraxia Phonic tics Sniffing Barking Grunting Throat clearing Coughing Chirping Screaming Single words or phrases Partial words or syllables Repeated use of word or words out of context Palilalia Echolalia Coprolalia
13 Tics: Other characteristics Premonitory feelings or sensations May be temporarily suppressed Suggestibility in some individuals May increase with heightened emotion (e.g., anger, excitement) Often occur while relaxing, and may increase during relaxation after stress May diminish during either concentration or distraction or during physical activity May diminish in situations where might be embarrassing, including doctor s visits May persist during all sleep stages, but not common during sleep
14 Tourette Syndrome: Clinical Presentation Spontaneous, simple or complex movements and vocalizations that abruptly interrupt normal motor activity Clinical manifestation diverse: no two patients the same Majority have minor tics Coprolalia/copropraxia RARE Misconception that coprolalia a core symptom may impede diagnosis
15 Premonitory Urges TS often associated with urge to tic premonitory urge Sensory discomfort in muscle or muscle groups preceding tic Described as physical tension, pressure, tickle, itch, or other sensory experience Some described as psychic phenomenon such as anxiety rather than physical sensation Performing tic results in relief of sensation Some patients describe needing to perform tic just right in order to relieve sensation
16 Voluntary or Involuntary? Patients who report premonitory urge can sometimes suppress tics to some degree Rebound phenomenon Has contributed to question of whether tics voluntary or involuntary Susceptibility to distraction and suggestion Description by patients as purposeful, but unwanted action However, not all patients aware of premonitory urges or of tics themselves, especially simple tics Also, presence in sleep suggests not voluntary Unvoluntary : performed by patient but in response to undesirable and irresistible urge (A. Lang)
17 STEREOTYPIES
18
19 Comparison of motor and non motor features of TS and ASD TS ASD Motor symptoms Tics Simple and complex motor tics Simple and complex vocal tics Stereotypies Simple and complex stereotypies Vocalizations, echolalia Compulsion, repetitive patterns of behaviour frequently reported (especially in OCD comorbidity) core feature Impaired socialization frequently reported core feature Impaired communication frequently reported core feature Impaired attention associated symptom associated symptom Hyperactivity associated symptom associated symptom Obsessive-compulsive behavior associated symptom Frequently reported Sensory processing issues frequently reported Associated symptom Sleep disturbance frequently reported frequently reported
20 Why Basal Ganglia can be interesting for psychologists? high comorbidity of childhood MD with behavioral problems high comorbidity of MD with psychiatric problems Chorea, Tourette and dystonia are commonly associated with neuropsychological problems in children as well as in adults Role of Basal Ganglia in cognition and behavior
21 Neural structures involved in the control of movement
22 Basal Ganglia Key take-home messages: - Components of the basal ganglia - Function of the basal ganglia - Functional circuitry of the basal ganglia e.g., direct and indirect pathways, transmitters - Circuitry involved in movement disorders discussed
23 What do the basal ganglia do? Basal ganglia are involved in generation of goal-directed voluntary movements: Motor learning Motor pattern selection Behaviour?
24 From Neuroscience, Purves et al. eds., 2001 Location in human brain
25
26 Dystonia Patients with medically resistant symptoms can be surgically treated with deep brain stimulation or pallidectomy More commonly used for primary dystonias (DYT-1, DYT-6) and torticollis Target is globus pallidus (Rarely subthalamic nucleus) Machado A et al. CCJM Vol 79, No. 2, Feb. 2012
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