Tourette Sights and Sounds
FROM MILD EYE-BLINKING TO INTENSE LEG AND ARM JERKING, FROM
IMITATION TO OFFENSIVE LANGUAGE, THESE ARE THE MOTOR AND VERBAL
TICS OF PATIENTS SUFFERING FROM TOURETTE SYNDROME. AND, WHILE
PHYSICIANS STRUGGLE TO UNDERSTAND THE DISEASE, THE INSURANCE
INDUSTRY IS CATEGORIZING THE SYNDROME.
By Suzanne Barlyn
Tourette Syndrome (TS) rarely strikes with the sensationalism
that often is the subject of media attention. The cruelty
of this neurobiological disorder is a changing pattern of
physical and behavioral manifestations that begins in childhood
and frequently can evade diagnosis for years.
"It's parenting in the trenches," says one New Jersey mother,
whose son's repeated crotch-touching at age four marked the
onset of TS. His constant throat clearing irritates her, a
common parental response to the vocal and motor tics that
impact TS sufferers and their families.
After being diagnosed at age ten, the boy joined an estimated
100,000 Americans who suffer from the full-blown disorder.
His symptoms included attention deficit disorder (ADD), one
of several hyperactivity and learning disorders that affect
about 50 percent of TS sufferers, according to the Tourette
Syndrome Association, Inc. (TSA) in Bayside, New York. TSA
estimates that one-third of patients exhibit obsessive traits;
depression and sleep disorders also are common.
There is no diagnostic test for TS, named after Dr. Georges
Gilles de la Tourette, a French neurologist who described
the condition in 1885. The disorder is inherited as a dominant
gene believed to cause a chemical imbalance involving dopamine
and, possibly, other neurotransmitters in the brain.
TS is unlike transient childhood tic disorders, which dissipate
within weeks to months. TS is characterized by frequently
changing motor and vocal tics present for more than a year.
Since the symptoms wax and wane, the condition may not be
immediately visible to physicians.
"There's no question that patients have an awareness of these
tics in certain situations, such as coming into a doctor's
office. They will try to control the tics so that they won't
embarrass themselves socially," says MSNJ member Dorothy Pietrucha,
MD, director of pediatric neurology at the Department of Pediatrics
at Jersey Shore Medical Center in Neptune.
Fortunately, the gap between onset and clinical diagnosis
is narrowing. TSA, which conducts ongoing education programs,
reports that some patients are diagnosed within six months
to a year, according to Sue Levi-Pearl, director of medical
and scientific programs for TSA. Symptoms often abate during
adulthood. Many patients lead productive lives, even while
symptoms are present.
While awareness is increasing, many physicians and health
insurance companies disagree over how to classify the disorder.
Dennis Deutsch, legal counsel for the Tourette Syndrome Association
of New Jersey, Inc. (TSANJ) was involved in the controversy
five years ago when, he notes, many insurance providers designated
TS a psychiatric disorder, resulting in reimbursements as
low as 50 percent for some patients.
Deutsch says the threat of litigation combined with evidence
of the disorder's neurological characteristics convinced some
carriers to classify TS as a physical condition and reimburse
patients at the 8o percent level.
Today, physicians report similar challenges. "Some insurance
companies treat it as a psychiatric disorder," says Trevor
DeSouza, MD, a pediatric neurologist in Madison and MSNJ member.
"But if you look at the actual physiology, the reason why
the drugs work is because they're working at the level of
neurotransmitters in the brain."
TOURETTE SYNDROME
CAUSES A CHEMICAL
INBALANCE INVOLVING
DOPAMINE AND OTHER
NEUROTRANSMITTERS
IN THE BRAIN |
As the number of managed care networks surge, patients also
are concerned about access to physicians. A 41-year-old woman
said she pays for some treatments out of pocket because there
are no specialists in her network. "Patients with TS are experiencing
this inability to see specialists more and more," suggests
Levi-Pearl.
Expertise is critical since TS is incurable. Managing the
most severe cases requires proficiency with a spectrum of
drugs and their side effects. About 30 to 40 percent of TS
patients are treated with medication, according to DeSouza.
"I don't initiate drug therapy unless I'm dealing with very
severe tics and they're affecting psychosocial relationships
and interpersonal functioning," he notes.
In cases requiring treatment, a physician must first assess
an understanding of TS medications. "A lot of the management
is based on the expertise of physicians with these medications
in terms of titrating the dose and watching for possible side
effects," says Pietrucha.
Neuroleptics such as haloperidol and pimozide are prescribed
to relieve motor and vocal tics that hinder daily functioning.
Side effects, which DeSouza finds are more prevalent with
haloperidol, include sedation and weight gain, and in rare
cases, tardive dyskinesia, an involuntary movement disorder.
Clonidine, an anti-hypertensive, and clonazepam, an anti-convulsant,
also treat tics. Risperidone, an anti-psychotic, is emerging
as a therapy for TS patients who have responded poorly to
other drugs.
Management is more difficult when tics are accompanied by
obsessive traits or a hyperactivity disorder. Although neurostimulants
such as methyiphenidate and dextroamphetamine effectively
control ADD and attention deficit hyperactivity disorder (ADHD),
they also may exacerbate tics.
The physician then must determine which symptoms are most
troublesome. "None of the drugs really affects all three layers
of TS," explains David E. Mandelbaum, director of the division
of child neurology at UMDNJ- Robert Wood Johnson Medical School
in New Brunswick. "You often are confronted with a situation
where you have to ask the person: "What's bothering you the
most? I don't want to put you on three different drugs."
No drug can treat every symptom, yet guanfacine, an anti-hypertensive,
and clonidine may be effective in managing both hyperactivity
disorders and tics, says Mandelbaum.
Selective serotonin reuptake inhibitors such as fluoxetine,
paroxetine, clomipramine, and sertraline, are common defenses
against obsessive disorders and depression. Since they are
ineffective in tic management, a combination of drugs may
be administered.
MANAGEMENT OF
TOURETTE SYNDROME
IS BASED ON
PHYSICIAN EXPERTISE,
WITH MEDICATION
AND THEIR KNOWLEDGE
OF SIDE EFFECTS. |
In the absence of medication, Pietrucha recommends behavior
modification techniques. Since patients often express an absolute
need to tic, she advises them to control the impulse in situations
that may heighten self-consciousness, and then tic in an unrestrained
manner at home. Chewing gum may help to control facial motor
tics while squeezing a small ball may relieve tics involving
the arms and hands.
"Being made fun of can some times be the worst symptom in
the world," says Mandelbaum. "I'd like to treat everyone else
by generating some understanding of the problem to avoid giving
a potent pharmacological agent to a child."
The broad spectrum of symptoms of TS was evident during a
recent support group meeting for adults sponsored by TSANJ.
Although a few of the 17 patients exhibited the severe physical
and vocal tics that are closely intertwined with the disorder,
many of the attendee's symptoms were barely perceptible to
an untrained eye.
Group members were united by similar concerns, despite their
varying levels of affliction. Most of the members, ages 23
to 52, contended with the frustrations of pharmacological
treatment and its side- effects. Several people reported relief
from drug therapy, while a few abandoned medication entirely.
A small minority of patients had never been medicated.
A 37-year-old woman said she was plagued by tics during childhood.
"I went through a phase where I thought I was retarded or
adopted," she said. "I couldn't understand why I had urges
to jerk my arms and kick my feet while I didn't see any other
children doing these things."
Patients' motor tics ranged from mild eye-blinking to intense
leg and arm jerking. Only a few patients exhibited vocal tics,
including echolalia, a tendency to imitate what they had just
heard. No one exhibited coprolalia, a propensity to utter
foul and offensive language. The condition is the most widely
stereo typed TS symptom, yet it affects between 5 and 30 percent
of patients.
The meetings offer patients a refuge from an outside environment
that is often unaccepting of their physical problems. As one
woman said, "I feel uncomfortable because I know I make noises
and people think I'm weird."
TSANJ, a Somerville-based organization of 1,400 families
and professionals, sponsors six support groups throughout
the state for TS sufferers and their families. For more information
about TSANJ's support groups, help line, and school in-service
programs, call 732.972.4459 or visit TSANJ's web site at www.tsanj.org.
Reprinted from New Jersey Medicine, July 1998, Volume 95,
Number 7, Pages 33-35, Copyright 1998 Suzanne Barlyn
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