XI International Child Neurology Congress 2010
Movement Disorders
Abstract Mov1
Title: Predictors and treatment interventions affecting long-term outcome in
Dancing Eye Syndrome
Authors: A Brunklaus¹ ³, K Pohl², SM Zuberi³, C de Sousa¹
Affiliations:
1.
Department of Neurology, Great Ormond Street Hospital, London, UK
2.
Evelina Children’s Hospital, St Thomas’ Hospital, London, UK
3.
Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children,
Glasgow, UK
Correspondence: A. Brunklaus (abrunklaus@doctors.org.uk)
Abstract
Purpose: Dancing Eye Syndrome (DES) is a rare and often chronically disabling
neurological illness of childhood. The aim of this study was to identify any
prognostic features and to assess the impact of treatment on long-term
outcome.
Method: The case records of 102 patients with DES seen over a 45-year period
in 2 UK paediatric neurology centres were systematically reviewed. Data
collection using a structured form included presenting illness, treatment,
relapses and neuro-cognitive sequelae.
Results: A severe initial presentation of DES was often associated with a long
disease course (p=.012). 50% of individuals were cognitively impaired at followup. Those with cognitive impairment tended to be younger at onset (19 vs 23m,
p=.021), had more severe initial symptoms (p=.05) and a longer duration of
illness (66 vs 41m, p=.008). A protracted disease course was frequently
associated with speech, behaviour and motor problems. The time interval from
symptom onset to treatment start and the degree of initial response did not
affect later functioning. 10% of patients did not require treatment, 75% received
steroids only and 15% polytherapy. Response rates to steroids were 94%.
Success of alternative treatments was significantly less consistent. Presence of
a neuroblastoma had no effect on the disease course.
Conclusion: Especially the very young at symptom onset, are at risk of
developing long-term sequelae. Steroids are useful in the short term, however
early treatment does not necessarily improve outcome. Prospective studies are
required to assess the effectiveness of alternative treatments.
Keywords: Dancing Eyes Syndrome, DES, Opsoclonus Myoclonus Syndrome,
OMS
© 2010 ICNApedia
XI International Child Neurology Congress 2010
Abstract Mov2
Title: Shuddering Attacks are Not Related to Essential Tremor
Authors: Mohammed MS Jan, MB.Ch.B, FRCPC, Professor of Child Neurology
Affiliations: Department of Pediatrics, Faculty of Medicine, King Abdulaziz
University, Jeddah, Saudi Arabia
Correspondence: Mohammed MS Jan (mmsjan@yahoo.ca)
Abstract
Purpose: Shuddering attacks are benign shivering movements occurring in young
children. The etiology is unknown; however, a relationship to essential tremor has
been postulated. I report my long term experience with shuddering attacks and
explore the proposed association with essential tremor, both in the child and
family.
Method: Series of 12 consecutive children with shuddering attacks were identified
both retrospectively and prospectively over a 6 year period ending on 1/1/2007.
The diagnosis was based on descriptive history and videotape review. Follow up by
1 neurologist was performed.
Results: The referral diagnosis was epilepsy in 7 (58%) and movement disorder in 5
(42%). The referring physician never suspected the diagnosis. The age of onset
ranged from 8 months to 2 years (mean 13 months). Family history was negative
for essential tremor. None had epileptiform discharges on EEG. All children were
followed for 2-8 years (mean 6.3). Complete remission was noted by 3-7 years
(mean 5.6) of age and none had subsequent tremor during follow-up.
Conclusion: Shuddering attacks are frequently misdiagnosed leading to
unnecessary investigations or treatment. No association with essential tremor was
found neither in the child nor family.
Keywords: shuddering / attacks / child / essential / familial / tremor
© 2010 ICNApedia
XI International Child Neurology Congress 2010
Abstract Mov3
Title: Kufor Rakeb syndrome: a Afghan family with juvenile parkinsonism
caused by a novel ATP13A2 frameshift mutation.
Authors: Berten Ceulemans4,5,David Crosiers1,2,4,5, Bram Meeus1,3,5,Philippe
Pals 4 ,Christine Van Broeckhoven1,3,5, Patrick Cras2,4,5, Jessie Theuns1,3,5
Affliations:
1.
Neurodegenerative Brain Diseases Group, Department of Molecular
Genetics, VIB, Antwerp, Belgium
2.
Laboratory of Neurobiology, Institute Born-Bunge, Antwerp, Belgium
3.
Laboratory of Neurogenetics, Institute Born-Bunge, Antwerp, Belgium
4.
Department of Neurology-Child neurology, University Hospital Antwerp,
Belgium
5.
University of Antwerp, Belgium
Correspondence: Berten Ceulemans (berten.ceulemans@revapulderbos.be)
Abstract
Purpose: Kufor Rakeb syndrome is a rare juvenile parkinsonian disorder with
pyramidal signs, supranuclear gaze palsy and dementia. Until now only two
families have been reported in the literature.
Method: Here we report on a consanguineous family of Afghan origin.
The proband boy presented at the age of 10 with severe dystonia of the neck
and trunk together with fine tremor in the upper limbs and rapid cognitive
decline. Initial response to dopaminergic treatment was present, but was
complicated by rapid occurrence of dyskinesias, hallucinations and psychosis.
FP-CIT SPECT nuclear imaging showed severely reduced bilateral tracer binding
in both putamina and caudate nuclei.
At the age of 12 he is severe limited by his motor disturbances and suffers from
dementia. (Video illustration)
One of his older sisters suffers of a mild mental retardation and a fine tremor of
the hands. She showed, although in a minor degree, the same abnormalities on
FP-CIT SPECT nuclear imaging.
Results: Complementary genetic, biochemical and imaging studies were
inconclusive so far. Through direct sequencing of all exons of ATP13A2 in this
patient we identified a homozygous 2 bp deletion in exon 23. The resulting
frameshift mutation is most probably responsible for truncation and loss of
function of the protein.
Further mutation analysis of the family is underway.
Conclusion: We report a third family with Kufor Rakeb syndrome and a
mutation in ATP13A2.
This observation further extends the clinical and genetic spectrum of this
syndrome.
Keywords: juvenile Parkinsonism, Kufor Rakeb syndrome, ATP13A2
© 2010 ICNApedia
XI International Child Neurology Congress 2010
Abstract Mov4
Title: Double-blind controlled randomized study of the use of levetiracetam to
treat tics in children and adolescents with Tourette syndrome
Authors: Yasser Awaad, MD, MSc; Anne Marie Michon, MSN, RN; Sarah
Minark, BSN, RN
Affiliations: Department of Pediatrics, Oakwood Healthcare System, University
of Michigan Medical School, Dearborn, Michigan
Correspondence: Yasser Awaad (awaady@gmail.com)
Abstract
Purpose: Some drugs currently used to treat tics have drawbacks, including
the risk of side effects such as tardive dyskinesia. Therapeutic options with
better safety profiles are needed. Levetiracetam is an antiepileptie drug with
atypical GABAcrgic effects that might be beneficial for this indication. To
evaluate the effects of Ievetiracetam on motor and vocal tics, behavior and
school performance in children and adolescents with tics and Tourette
syndrome.
Method: 24 patients, age 6-18 years with tics and Tourette syndrome were
enrolled in this prospective, double- blinded placebo randomized study for 8
weeks. Each group had 12 patients. The initial starting dose of levetiracetam
was 250 mg/d. The dosage was titrated over 3 '''weeks to 1,000 to 2,000 mg/d.
Clinical out-comes were assessed with the Clinical Global Impression Scale,
Yale Global Tie Severity Scale, and Revised Conners' Scale.
Result: 10 out of 12 patients in the Levetiracetam group showed improvements
based on all of the scales used and 4 patients improved with regard to behavior
and school performance. 2 patients dropped out. 9 patients out of 12 patients
in the placebo group showed no improvement, one patient showed a great
placebo effect, and 2 patients dropped out of the study. Levetiracetam was
generally well tolerated. 2 patients discontinued because of exaggeration of preexisting behavioral problems.
Conclusion: Levetiracetam may be useful in treating tics in children and
adolescents. Given its established safety profile, levetiracctam is a candidate for
additional evaluation.
Keywords: Toureett , Keppra
© 2010 ICNApedia
XI International Child Neurology Congress 2010
Abstract Mov5
Title: MD-Childhood Rating Scale: a new tool for movement disorders
evaluation in developmental age
Authors: R.Battini 1, M.Casarano1,2, R. Di Pietro1, G.Sgandurra 1, M.T.
Giannini3, V. Leuzzi3 and G. Cioni1,2
Affiliations:
1.
Dpt. Dev Neuroscience, IRCCS Stella Maris, Calambrone (Pisa), Italy ;
2.
Div. Child Neurol and Psych, University of Pisa, Italy;
3.
Dpt. of Child Neurology and Psychiatry, University of Rome “La
Sapienza”, University of Rome, Italy.
Correspondance: Roberta Battini (r.battini@inpe.unipi.it)
Abstract
Purpose: A new scale for children and adolescents called Movement Disorder
Childhood Rating Scale was designed and developed in two different forms on
the basis of patient’s age, MD-CRS 0-3 and MD-CRS 4-18. Both versions are
subdivided in two parts: Part I for Global assessment and Part II for MD
intensity. Two groups of patients affected by different types of movement
disorders have been studied in order to evaluate the sensibility of the scale
and its capability to quantify clinical modifications during drug treatment.
Methods: Reliability, construct validity and consistency of the scales are
tested in 101 subjects: MD-CRS 4-18: 61 patients [Ped Neurol 2008] and
MD-CRS 0-3: 40 [Ped Neurol 2009].
In addition we tested 21 children using MD-CRS0-3 and 45 patients using MDCRS4-18 at basal time (T0), after 6 months (T1) and after one year (T2) of
specific drug treatment. The functional improvement of all patients was
evaluated using a 2 sided Student t test.
Results: Preliminary data on 24 patients on MD-CRS4-18 and on 9 patients on
MD-CRS0-3 showed these results: the mean total MD-CRS 4-18 score changed
from 0.50 (SD 0.16) before treatment, to 0.39 (SD 0.16) after one year
(p<0.000001); the mean total of MD-CRS 0-3 score changed from 0.70 (SD 0.18)
to 0.59 (SD 0.17) (p<0.05).
Conclusions: The results of this preliminary study on repeated testing of a
group of children and adolescents seem to indicate the responsiveness of MDCRS and its potential usefulness in the assessment and monitoring children
and adolescents with movement disorders during specific treatment.
Key words: Movement disorders in children; evaluation scale of movement
disorders
© 2010 ICNApedia