Abstract Details

Title Evaluation of Dystonia and Dystonic Posturing in a cohort of patients with autism spectrum disorder (ASD)

Topic Child Neurology and Developmental Neurology

Presentation(s) P5 - Poster Session 5 (5:30 PM-6:30 PM)

Poster/Presentation
Number 7-039

Objective This study aims to identify and describe the presence of dystonia and/or dystonic posturing in patients with an autism spectrum disorder (ASD).

Background While it is well-recognized that children with ASD’s exhibit abnormal movements, careful categorization of these movements has been limited. Classically, these movements have been grouped into the broad category of “motor stereotypies.” While the pathogenesis of stereotypies remains unclear, it has been hypothesized that the movements may result from dysfunction of the basal ganglia and dopaminergic pathways involved in motor control. Given that basal ganglia dysfunction may also result in dystonia, we question whether some of the “stereotyped movements” in ASD’s may actually represent dystonia.

Design/Methods We reviewed twenty videotapes of patients ages 3 to 30 with an ASD. Movements were evaluated and characterized by board-certified Child Neurologists.

Results Clear dystonic posturing was identified amongst movements occurring during rest in seven low functioning and one high functioning patient with an ASD. Movements included spoon deformity of the hand, facial and oral grimace, and cervical and ocular deviation. All movements had qualities consistent with agonist/antagonist muscle co-contraction. The movements were spontaneous, non-sustained, had no after effect, and were brief in duration (<2s). Most of these movements were previously identified as “self-stimulation” or “usual autistic movements.” These aforementioned movements also co-existed with other stereotypic movements that were not dystonic in nature.

Conclusions While cortical pathways have been implicated in the pathogenesis of ASD, the role of the basal ganglia has come under investigation. Our findings suggest basal ganglia dysfunction contributed to the abnormal movements in these patients with ASD. While admittedly difficult to definitively differentiate purely volitional stereotypies from purely non-volitional dystonic postures, in fact these movements may lie on a spectrum of abnormal movements associated with basal ganglia involvement. Either way, the identification of such movements suggests basal ganglia dysfunction.

Authors/Disclosures
Carly N. Ray, MD (Icahn School of Medicine at Mount Sinai) PRESENTER	No disclosure on file
Jeffrey M. Kornitzer, MD, FAAN (New Jersey Pediatric Neuroscience Institute (NJPNI))	Dr. Kornitzer has nothing to disclose.
	No disclosure on file
Xue Ming, MD (Dept of Neurosciences)	Dr. Ming has nothing to disclose.

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