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Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort
Susan Harvey1, Nicholas M Allen2, Susan Byrne3
1Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin 1, Ireland; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
Insights
The prevalence of paroxysmal movement disorders (PxMD) in children is higher than in adults, with a point prevalence of 6.5 per 100,000. Many pediatric PxMD cases show improvement with treatment, trigger avoidance, or spontaneous remission.
Area of Science:
- Pediatric Neurology
- Movement Disorders
- Epidemiology
Background:
- Paroxysmal movement disorders (PxMD) encompass episodic involuntary movements like paroxysmal dyskinesias (PD) and episodic ataxias (EA).
- Despite historical recognition, pediatric PxMD prevalence remains largely uncharacterized.
Purpose of the Study:
- To establish the prevalence of PxMD within the pediatric population of the Republic of Ireland.
- To delineate the clinical characteristics and outcomes of pediatric PxMD cases.
Main Methods:
- A cross-sectional cohort study was conducted across Irish pediatric neurology services.
- Methods included retrospective chart reviews, telephone interviews, and direct clinical assessments.
Main Results:
- Seventy-nine pediatric cases met inclusion criteria (37 PD, 38 EA, 4 Alternating Hemiplegia of Childhood).
- The point prevalence for PxMD was 6.5 per 100,000 children (<18 years).
- A specific etiology was identified in 38% of reviewed cases, with single-gene testing yielding the highest diagnostic rate.
Conclusions:
- This study provides the first prevalence data for pediatric PxMD, revealing a higher rate than in adult populations.
- A significant proportion of children with PxMD experience symptom improvement through medication, trigger avoidance, or natural remission.
Background:
Paroxysmal movement disorders (PxMD) are characterized by episodic involuntary movements and include paroxysmal dyskinesias (PD) and episodic ataxias (EA). Although reported in the medical literature since 1892, the exact prevalence in children is unknown.
Objectives:
To determine the prevalence and clinical characteristics of PxMD in the pediatric population in the Republic of Ireland.
Methods:
Cross-sectional cohort study across pediatric neurology services in the Republic of Ireland incorporating retrospective chart, telephone and clinical reviews.
Results:
Seventy-nine cases met the inclusion criteria (PD = 37, EA = 38, Alternating Hemiplegia of Childhood = 4). Point prevalence for all PxMD was 6.5 cases per 100,000 persons aged less than 18 years (PD 3/100,000, EA 3.1/100,000, Alternating Hemiplegia of Childhood 0.3/100,000). Sixty-four cases were clinically reviewed by the research team (PD = 33, EA = 31). A cause was identified in 38 % (24/64). The highest investigation yield was from single-gene testing (38 %, 9/24) followed by gene panels (25 %, 11/44). Variable evolution patterns were seen. In PD, 55 % (18/33) resolved and 30 % (10/33) improved. This was due to medication in 61 % (20/33), trigger avoidance in 6 % (2/33) and spontaneous remission in 18 % (6/33). In EA, 45 % (14/31) resolved and 42 % (13/31) improved, with spontaneous remission or improvement in 48 % (17/33).
Discussion:
This study adds to the PxMD knowledge base by determining PxMD prevalence in a pediatric population for the first time. This prevalence is higher than previous adult population estimates. An aetiology was identified in one-third. A large proportion can expect symptom improvement either with medications, trigger avoidance or spontaneous remission over time.
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