Dystonia DisorderNCT06815757
İnvestigating Dysphagia in Pediatric Dystonia
An observational study of Dystonia Disorder, run by Gazi University at 1 site in Turkey (Türkiye).
Trial summary
Dystonia is a movement disorder involving involuntary, sustained, or intermittent muscle contractions that cause abnormal postures and repetitive movements, worsened by voluntary actions or stress. It is linked to dysfunctions in the basal ganglia, thalamus, and cerebellum, affecting sensorimotor integration. Read more about this study
- Who is it for?
- Ages 2 to 18 years
- Conditions the study is for
- Dystonia Disorder
- How many people
- 25 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 17 Mar 2023to 17 Apr 2025
- How long will I take part?
- 3 Days
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Children who were diagnosed predominant movement disorder with dystonia
Who may be able to join
- a confirmed neurological diagnosis, such as cerebral palsy, metabolic disorders, or genetic syndromes, with dystonia as the predominant movement disorder.
Who cannot join
- encompassed conditions that could interfere with the evaluation process, including active or untreated seizures and acute medical illnesses, such as mouth ulcers, tonsillitis, pharyngitis, or pneumonia.
Trial locations and contacts
1 site in 1 country.
Turkey (Türkiye)1 site
Gazi University, Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation
Ankara, 06490
About this study
Official title: Unveiling Dysphagia in Pediatric Dystonia: Insights From a Cross-Sectional Study
Dystonia is a movement disorder involving involuntary, sustained, or intermittent muscle contractions that cause abnormal postures and repetitive movements, worsened by voluntary actions or stress. It is linked to dysfunctions in the basal ganglia, thalamus, and cerebellum, affecting sensorimotor integration. In children, dystonia often coexists with other disorders like spasticity in cerebral palsy, complicating diagnosis and treatment.
Dystonia can be genetic, caused by mutations, or acquired, associated with conditions such as cerebral palsy, perinatal brain injury, and metabolic disorders. A key complication of pediatric dystonia is swallowing dysfunction (oropharyngeal dysphagia), which impairs airway protection and nutrition, increasing the risk of aspiration pneumonia. Studies have shown swallowing impairments across all phases (oral, pharyngeal, and esophageal) in children with dyskinetic cerebral palsy.
However, due to pathophysiological differences between dystonia and cerebral palsy, generalizing findings may lead to inaccuracies. Each dystonia subtype presents unique challenges that affect swallowing function, emphasizing the need for condition-specific assessment and interventions. This study aims to fill the research gap by exploring the clinical features of swallowing dysfunction in children with dystonia, providing insights to improve care and outcomes.
Read the detailed description
Dystonia is a neurological disorder characterized by involuntary muscle contractions that cause abnormal postures and repetitive movements. These symptoms are often exacerbated by voluntary actions or stress. The condition is linked to dysfunctions in brain regions responsible for motor control, including the basal ganglia, thalamus, and cerebellum, which disrupt sensorimotor integration. In children, dystonia frequently coexists with other neurological disorders, particularly cerebral palsy, making diagnosis and management more complex.
The etiology of dystonia is both genetic and acquired. Genetic forms, though rare, are associated with progressive motor impairments due to mutations in genes. Acquired dystonias are more common and are linked to risk factors like perinatal brain injury, cerebral palsy, and metabolic disorders. Children with dyskinetic cerebral palsy are particularly vulnerable, as their condition shares clinical features with dystonia.
A key complication in pediatric dystonia is oropharyngeal dysphagia, a disorder affecting the ability to swallow. Swallowing requires precise neuromuscular coordination across oral, pharyngeal, and esophageal phases. Disruptions in this process can lead to malnutrition, dehydration, and aspiration pneumonia. Studies on dyskinetic cerebral palsy have highlighted impairments in all phases of swallowing, but due to differences in muscle activation and positioning risks, these findings may not fully apply to children with dystonia.
Each dystonia subtype presents unique clinical challenges. For instance, children with spastic cerebral palsy face high risks of aspiration in a supine position, while children with dystonia may tolerate this position better. Therefore, individualized assessments are essential to ensure accurate diagnosis and treatment.
This study aims to explore the clinical characteristics of swallowing dysfunction in children with dystonia. By investigating how various causes influence its presentation, we seek to develop better diagnostic tools and treatment strategies to improve patient care and quality of life.
- Conditions
- Dystonia Disorder
- Keywords
- Dystonia, Pediatric, Dysphagia, DDS
- Medical subject headings
- Dystonic Disorders, Dystonia, Deglutition Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Dystonic Children | Children diagnosed with dystonia as the predominant movement disorder |
What is being measured
The primary outcome is the main question the study is designed to answer.
Swallowing Disorder Severity
Swallowing disorder severity will be determined using the Dysphagia Disorder Survey (DDS), a validated tool for children aged two years and older. The DDS, which has demonstrated strong internal consistency and validity, includes 15 items divided into two sections: Part 1 assesses related factors such as body mass index, diet, independence, postural control, diet consistency, adaptive utensils, special feeding techniques, and seating alignment, while Part 2 evaluates feeding and swallowing competency, including orienting, food reception, containment, oral transport, chewing, oral-pharyngeal swallowing, post-swallow, and oesophageal swallowing. In line with the developers' recommendations, items 1 and 15 were excluded from the scoring due to weak associations with other items, resulting in total scores ranging from 0 to 34. Higher scores indicated greater swallowing disorder severity.
Measured: Baseline
Secondary outcomes (1)
Aspiration Risk and Swallowing Function Assessment
Aspiration risk will be assessed using the 3-ounce water swallow test. Each child will be asked to drink 3 ounces of water from a cup without interruption while their natural position. If the patient is unable to hold the cup, the clinician assists them. Referral for further assessment will be warranted if the child exhibited coughing, choking, or wet/hoarse vocal quality during or within one minute of completing the test. Performance will be scored as "successful" if no signs of impaired safety were observed and "failed" if any of the criteria were met. In addition, the Pediatric Assessment Tool-10 (PEDI-EAT-10)questionnaire, a parent-proxy tool, will be administered to assess penetration and aspiration risks. This 10-item questionnaire, scored on a 5-point ordinal scale, identified higher risk of unsafe swallowing with increasing scores. A score of ≥4 indicated swallowing dysfunction, and a score of ≥13 indicated a heightened risk of aspiration.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Feb 2025
- Study start17 Mar 2023
- Primary completion20 Feb 2025 (estimated)
- Study completion17 Apr 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Dystonia DisorderStudies of the same condition, open and under way.
- More trials run by Gazi UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 25 participants (estimated)
- Target duration
- 3 Days
Sponsor and investigators
- Lead sponsor
- Gazi University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Muserrefe Nur Keles, Gazi University
- Investigators
- Muserref Keles, PhD, Principal investigator, Gazi University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06815757
- Sponsor's protocol ID
- 822426
- Status last verified
- Feb 2025
- First submitted
- 1 Feb 2025
- Last updated
- 11 Feb 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 11 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Unveiling Dysphagia in Pediatric Dystonia: Insights From a Cross-Sectional Study
- ClinicalTrials.gov ID
- NCT06815757
- Acronym / sponsor ID
- 822426
- Conditions
- Dystonia Disorder
- Keywords
- Dystonia, Pediatric, Dysphagia, DDS
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- Gazi UniversityUniversity, hospital or other
- Study start
- 17 Mar 2023 (actual)
- Primary completion
- 20 Feb 2025 (estimated)
- Study completion
- 17 Apr 2025 (estimated)
- First posted
- 7 Feb 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Dystonia is a movement disorder involving involuntary, sustained, or intermittent muscle contractions that cause abnormal postures and repetitive movements, worsened by voluntary actions or stress. It is linked to dysfunctions in the basal ganglia, thalamus, and cerebellum, affecting sensorimotor integration. In children, dystonia often coexists with other disorders like spasticity in cerebral palsy, complicating diagnosis and treatment.
Dystonia can be genetic, caused by mutations, or acquired, associated with conditions such as cerebral palsy, perinatal brain injury, and metabolic disorders. A key complication of pediatric dystonia is swallowing dysfunction (oropharyngeal dysphagia), which impairs airway protection and nutrition, increasing the risk of aspiration pneumonia. Studies have shown swallowing impairments across all phases (oral, pharyngeal, and esophageal) in children with dyskinetic cerebral palsy.
However, due to pathophysiological differences between dystonia and cerebral palsy, generalizing findings may lead to inaccuracies. Each dystonia subtype presents unique challenges that affect swallowing function, emphasizing the need for condition-specific assessment and interventions. This study aims to fill the research gap by exploring the clinical features of swallowing dysfunction in children with dystonia, providing insights to improve care and outcomes.
Detailed description
Dystonia is a neurological disorder characterized by involuntary muscle contractions that cause abnormal postures and repetitive movements. These symptoms are often exacerbated by voluntary actions or stress. The condition is linked to dysfunctions in brain regions responsible for motor control, including the basal ganglia, thalamus, and cerebellum, which disrupt sensorimotor integration. In children, dystonia frequently coexists with other neurological disorders, particularly cerebral palsy, making diagnosis and management more complex.
The etiology of dystonia is both genetic and acquired. Genetic forms, though rare, are associated with progressive motor impairments due to mutations in genes. Acquired dystonias are more common and are linked to risk factors like perinatal brain injury, cerebral palsy, and metabolic disorders. Children with dyskinetic cerebral palsy are particularly vulnerable, as their condition shares clinical features with dystonia.
A key complication in pediatric dystonia is oropharyngeal dysphagia, a disorder affecting the ability to swallow. Swallowing requires precise neuromuscular coordination across oral, pharyngeal, and esophageal phases. Disruptions in this process can lead to malnutrition, dehydration, and aspiration pneumonia. Studies on dyskinetic cerebral palsy have highlighted impairments in all phases of swallowing, but due to differences in muscle activation and positioning risks, these findings may not fully apply to children with dystonia.
Each dystonia subtype presents unique clinical challenges. For instance, children with spastic cerebral palsy face high risks of aspiration in a supine position, while children with dystonia may tolerate this position better. Therefore, individualized assessments are essential to ensure accurate diagnosis and treatment.
This study aims to explore the clinical characteristics of swallowing dysfunction in children with dystonia. By investigating how various causes influence its presentation, we seek to develop better diagnostic tools and treatment strategies to improve patient care and quality of life.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Target follow-up
- 3 Days
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Dystonic Children | – | –Children diagnosed with dystonia as the predominant movement disorder |
Who may qualify
- Ages
- 2 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Children who were diagnosed predominant movement disorder with dystonia
Key inclusion criteria (1 listed)
- a confirmed neurological diagnosis, such as cerebral palsy, metabolic disorders, or genetic syndromes, with dystonia as the predominant movement disorder.
Key exclusion criteria (1 listed)
- encompassed conditions that could interfere with the evaluation process, including active or untreated seizures and acute medical illnesses, such as mouth ulcers, tonsillitis, pharyngitis, or pneumonia.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Swallowing Disorder Severity
Time frame: Baseline
Swallowing disorder severity will be determined using the Dysphagia Disorder Survey (DDS), a validated tool for children aged two years and older. The DDS, which has demonstrated strong internal consistency and validity, includes 15 items divided into two sections: Part 1 assesses related factors such as body mass index, diet, independence, postural control, diet consistency, adaptive utensils, special feeding techniques, and seating alignment, while Part 2 evaluates feeding and swallowing competency, including orienting, food reception, containment, oral transport, chewing, oral-pharyngeal swallowing, post-swallow, and oesophageal swallowing. In line with the developers' recommendations, items 1 and 15 were excluded from the scoring due to weak associations with other items, resulting in total scores ranging from 0 to 34. Higher scores indicated greater swallowing disorder severity.
1 secondary outcome
Aspiration Risk and Swallowing Function Assessment
Time frame: Baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Feb 2025.
- Individual participant dataSharing planned: Undecided
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Deep Brain Stimulation Surgery for Movement Disorders
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Muserref Keles, PhD principal investigator
Gazi University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Dystonia Disorder, run by Gazi University at 1 site in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 11 Feb 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Swallowing Disorder Severity (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Feb 2025.