Chewing and Swallowing Training Program in Coffin-Lowry Syndrome

Study Overview
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Brief Summary
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This study will report the chewing and swallowing disorders of a Coffin-Lowry Syndrome (CLS) patient, and effects of chewing and swallowing training on chewing and swallowing function.

Detailed Description
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Patients with CLS suffer from spinal deformities, nonconvulsive status epilepticus, obstructive sleeep apnea syndrome, pneumonia, stimulus-induced myoclonus, cases of falls, mechanical ventilation, restrictive lung disease. It was also reported that patients with CLS had problems with eating and feeding functions. However there is no study investigating chewing and swallowing functions of this patient population. Therefore, the investigators have three main purposes: To chewing and swallowing function in a boy with CLS diagnosis who was referred due to coughing during eating, long-lasting wheezing, sputum and inability to intake solid food To investigate the effects of two months of chewing and swallowing training program To present long term follow-up effects on chewing and swallowing function.

Official Title
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Chewing and Swallowing Training Program in Coffin-Lowry Syndrome: A Case Report

Conditions
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Swallowing Disorder, Chewing Problem

Intervention / Treatment
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* Other: Chewing and swallowing rehabilitation


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Having a diagnosis of CLS Having a history of coughing during eating, long-lasting wheezing, sputum Inability to intake solid food. Exclusion Criteria: - No history of coughing during eating, long-lasting wheezing, sputum

Ages Eligible for Study
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Minimum Age: 3 Years
Maximum Age: 3 Years

Sexes Eligible for Study
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Male

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: A child with Coffin-Lowry Syndrome<br>A boy with a known CLS diagnosis with a history of coughing during eating, long-lasting wheezing, sputum and inability to intake solid food will be included. | Other: Chewing and swallowing rehabilitation<br>* A home based chewing and swallowing training program (CST) will be applied by an experienced physical therapist. The Functional Chewing Training will be used to improve chewing function which has five steps including positioning the child and food, sensory stimulation, chewing training and adjustment of food consistency to improve chewing function. To support hyolaryngeal elevation, laryngeal mobilization will be performed. Hyolaryngeal mobilization will be performed by moving hyolaryngeal complex in right, left and up directions manually.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Instrumental swallowing evaluation | Videofluoroscopic Swallowing Evaluation (VFSE) will be performed. The swallowing physiology will be evaluated by using 3 ml of liquid and pudding barium during the VFSE. The Penetration and Aspiration Scale (PAS) will be used to determine penetration and aspiration severity, which is scored between 1 to 8. The score of PAS 1 means 'No aspiration', scores from 2 to 5 indicate 'Penetration', and scores from 6 to 8 indicate 'Aspiration'. High score indicates bad situation. | 6 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Swallowing screening | The Pediatric Eating Assessment Tool (PEDI-EAT-10) instrument which has 10 questions to evaluate dysphagia symptom severity in children will be completed. Total scoring ranges from 0 to 40. Higher scores mean worse outcome. | 6 months | 
| Chewing evaluation | Karaduman Chewing Performance Scale will be used to define chewing performance level. It is a 5 point scale between 0 to 4. Level 0 means 'Normal chewing function', and level 4 means 'No biting and chewing'. Higher scores mean worse chewing function. | 6 months |