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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.
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:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| A child with Coffin-Lowry Syndrome | Other | 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Chewing and swallowing rehabilitation | Other | 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. |
| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
- No history of coughing during eating, long-lasting wheezing, sputum
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| Name | Affiliation | Role |
|---|---|---|
| AYŞE KÜBRA ŞAHAN | Hacettepe University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hacettepe University | Ankara | Turkey (Türkiye) |
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| ID | Term |
|---|---|
| D003680 | Deglutition Disorders |
| ID | Term |
|---|---|
| D004935 | Esophageal Diseases |
| D005767 | Gastrointestinal Diseases |
| D004066 | Digestive System Diseases |
| D010608 | Pharyngeal Diseases |
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| ID | Term |
|---|---|
| D008409 | Mastication |
| ID | Term |
|---|---|
| D004435 | Eating |
| D009747 | Nutritional Physiological Phenomena |
| D000066888 | Diet, Food, and Nutrition |
| D010829 | Physiological Phenomena |
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|
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 |
| D010038 | Otorhinolaryngologic Diseases |
| D004068 | Digestive System Physiological Phenomena |
| D055688 | Digestive System and Oral Physiological Phenomena |