670
cant deficits in visual-motor abilities.
4-9
Although attention-deficit/hyperactivity
disorder is fairly common in WS,
4,5,10,11
epilepsy and autism are rare features of
this condition.
9,12
Parents of children with WS often re-
port significant sleep-related symptoms
that include difficulty falling asleep, rest-
less sleep, and frequent and prolonged
awakenings from sleep. A movement
arousal disorder, such as periodic limb
movement in sleep, could contribute to
these symptoms. Therefore we decided
to screen these patients by a telephone
survey for a possible movement arousal
disorder and later study a subset of chil-
dren with polysomnography to evaluate
for PLMS in these patients.
METHODS
Study Group and Telephone
Survey
The parents of 28 younger children
with WS (mean age, 4.7 ± 2.3 years;
range, 1.5 to 10 years), who were fol-
lowed up in the multispecialty WS clinic
of the Children’s Hospital of Philadel-
phia, participated in a telephone survey
regarding sleep habits of their children.
We interviewed one parent of each child.
This survey, performed by one of the in-
vestigators, included 8 questions aimed
to differentiate between sleep-disordered
breathing (Table I, questions 1 and 2)
Williams syndrome is a complex dys-
morphic and developmental disorder
linked to a deletion in chromosome
7q11.23 encompassing the elastin gene
and genes involved in brain develop-
ment.
1,2
This disorder involves alter-
ations in vascular and connective tissues
P
Periodic limb movement in sleep in children with
Williams syndrome
Raanan Arens, MD, Bryan Wright, BS, Joanne Elliott, RPFT, Huaqing Zhao, MA, Paul P. Wang, MD,
Lawrence W. Brown, MD, Tara Namey, BS, and Paige Kaplan, MBBCh
and is associated with mental retardation
and neurologic disorders.
3
Children with
WS have cognitive and behavioral disor-
ders with a unique neurobehavioral pro-
file. They display a distinctive preserva-
tion of face recognition skills and many
language and memory skills but signifi-
From the Divisions of Pulmonary Medicine, Neurology, Biostatistics, Child Development, and Genetics, The Children’s
Hospital of Philadelphia, Children’s Seashore House, and University of Pennsylvania School of Medicine, Philadelphia,
Pennsylvania.
Submitted for publication Jan 19, 1998; revisions received May 21, 1998, and Sept 3, 1998; accepted Sept 4,
1998.
Reprint requests: Raanan Arens, MD, Division of Pulmonary Medicine, The Children’s Hospital of Philadel-
phia, 34th St and Civic Center Blvd, Philadelphia, PA, 19104-4399.
Copyright © 1998 by Mosby, Inc.
0022-3476/98/$5.00 + 0 9/21/94316
ADHD Attention-deficit/hyperactivity disorder
NREM Non-rapid eye movement
P
ET
CO
2
Expired end-tidal CO
2
tension
PLMS Periodic limb movements in sleep
REM Rapid eye movement
RLS Restless leg syndrome
S
a
O
2
Arterial oxygen saturation
WS Williams syndrome
Objective: Williams syndrome (WS) is associated with neurobehavioral abnor-
malities that include irritability and attention-deficit/hyperactivity disorder. Par-
ents often report children having difficulties initiating and maintaining sleep be-
cause of restlessness and arousals. Therefore we evaluated a group of children
with WS for the presence of a movement arousal sleep disorder.
Methods: Twenty-eight families of children with WS participated in a tele-
phone survey aimed to screen for a movement arousal disorder. Of the 16 chil-
dren identified as having such a disorder, 7 (mean age, 3.9 ± 2.2 years) under-
went polysomnography. Their studies were compared with those of 10 matched
control subjects (mean age, 5.3 ± 2.0 years).
Results: The 7 subjects with WS who were screened by the survey had sleep
latency, total sleep time, arousals, and awakenings that were similar to those of
control subjects. However, they presented with a disorder of periodic limb
movement in sleep (PLMS). The PLMS index in the subjects with WS was
14.9 ± 6.2 versus 2.8 ± 1.9 in control subjects (P < .0001). In addition, arousal
and awakening in subjects with WS were strongly associated with PLMS.
Moreover, children with WS spend more time awake during sleep periods than
control subjects (10.0% ± 7.0% vs 4.4% ± 4.7%; P < .05). Five children were
treated with clonazepam, and in 4 a significant clinical response was noted.
Conclusion: We report an association between WS and PLMS. Clonazepam
may reduce the clinical symptoms of PLMS in some of these children. (J Pediatr
1998;133:670-4)