Chewing and Swallowing Training Program in Coffin-Lowry Syndrome

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

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.

Study Overview

• Status: Completed
• Conditions: Chewing Problem; Swallowing Disorder
• Intervention / Treatment: Other: Chewing and swallowing rehabilitation

Detailed Description

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:

1. 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
2. To investigate the effects of two months of chewing and swallowing training program
3. To present long term follow-up effects on chewing and swallowing function.

• Study Type: Interventional
• Enrollment (Actual): 1
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Turkey
  • Ankara, Turkey
    • Hacettepe University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 years to 3 years (CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: TREATMENT
• Allocation: NA
• Interventional Model: SINGLE_GROUP
• Masking: NONE

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

OTHER: A child with Coffin-Lowry Syndrome; 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; 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.

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Hacettepe University
• Investigators: Principal Investigator: AYŞE KÜBRA ŞAHAN, Hacettepe University

Study record dates

Study Major Dates

• Study Start (ACTUAL): December 12, 2019
• Primary Completion (ACTUAL): June 19, 2020
• Study Completion (ACTUAL): June 19, 2020

Study Registration Dates

• First Submitted: December 12, 2019
• First Submitted That Met QC Criteria: December 13, 2019
• First Posted (ACTUAL): December 16, 2019

Study Record Updates

• Last Update Posted (ACTUAL): July 1, 2020
• Last Update Submitted That Met QC Criteria: June 30, 2020
• Last Verified: June 1, 2020

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Gastrointestinal Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Pharyngeal Diseases; Otorhinolaryngologic Diseases; Esophageal Diseases; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Deglutition Disorders; Coffin-Lowry Syndrome
• Other Study ID Numbers: KA-94678

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No