Session Time: 1:45pm-3:15pm
Location: Agora 2 West, Level 2
Objective: To assess the nature and frequency of movement disorders in children with molecularly confirmed 22q11.2 Deletion Syndrome.
Background: 22q11.2 Deletion Syndrome (22q11.2DS) is a heterogenous clinical syndrome involving neurodevelopmental, psychiatric, cardiac, immunological and endocrinological abnormalities, with genetic deletions involving this region also having been identified as a risk factor for Parkinson’s disease in adults. Movement abnormalities have also been reported in children with 22q11.2DS, including hypotonia, tremor and difficulties with co-ordination. However, no previous studies have sought to detail the phenomenology and severity of these motor features.
Method: Paediatric patients with 22q11.2DS were recruited via the UK Medical Genetics clinics. All patients underwent a standardised videotaped clinical examination, together with systematic questionnaires assessing IQ, postural stability, attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and anxiety-related symptoms. The videotaped examinations were reviewed independently by three neurologists to determine the presence or absence of a movement disorder. If present they were also asked to classify the movement disorder, with agreement of 2 out of 3 neurologists required for a consensus decision.
Results: 18 patients (11 male: 7 female) were assessed (mean age: 11.3 years, (range, 6.82-17.11 years)). 13 patients demonstrated features of dystonia, one demonstrated myoclonus, and four displayed a combination of dystonia and myoclonus. For those with dystonia, or dystonia and myoclonus, no significant correlation was seen between dystonia severity and gender, (p=.660), age (p=.712), postural stability (p=.591), or fine motor skills. A significant correlation was found between indicative ASD symptoms and dystonia severity (p=.014). No relationship was found between dystonia severity and ADHD (p=.391) or anxiety (p=.081).
Conclusion: This study demonstrates the high rate of dystonia in children with 22q11.2DS, and its potential association with autism spectrum disorders.
References: Baralle D, Trump D, ffrench-Constant C, et al. Myoclonic movement disorder associated with microdeletion of chromosome 22q11. Journal of Neurology, Neurosurgery & Psychiatry 2002;73:600-601. Boot E, Bassett AS, Marras C. 22q11.2 Deletion Syndrome–Associated Parkinson’s Disease. Mov Disord Clin Pract; 0. doi:10.1002/mdc3.12687. Campbell IM, Sheppard SE, Crowley TB, et al. What is new with 22q? An update from the 22q and You Center at the Children’s Hospital of Philadelphia. Am J Med Genet Part A. 2018;176A:2058–2069 Niarchou M, Zammit S, van Goozen SH, Thapar A, Tierling HM, Owen MJ, et al. Psychopathology and cognition in children with 22q11.2 deletion syndrome. Br J Psychiatry 2014; 204: 46–54. Sobin C, Monk SH, Kiley-Brabeck K, Khuri J, Karayiorgou M. Neuromotor Deficits in Children With the 22q11 Deletion Syndrome. Movement Disorders Vol. 21, No. 12, 2006, pp. 2082–2089
To cite this abstract in AMA style:W. Fung, A. Cunningham, T. Massey, J. Hall, M. Owen, M. Van-Den-Bree, K. Peall. Assessment, identification and classification of movement disorders in 22q11.2 deletion syndrome [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/assessment-identification-and-classification-of-movement-disorders-in-22q11-2-deletion-syndrome/. Accessed November 29, 2023.
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MDS Abstracts - https://www.mdsabstracts.org/abstract/assessment-identification-and-classification-of-movement-disorders-in-22q11-2-deletion-syndrome/