Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report

• ClinicalTrials.gov Identifier: NCT05548751
• Recruitment Status: Recruiting
• First Posted: September 21, 2022
• Last Update Posted: September 21, 2022
• Sponsor: Uskudar University
• Information provided by (Responsible Party): tuba kolaylı, Uskudar University

Study Description

Brief Summary:

Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism. It is a genetic disorder that is carried by an X-linked recessive gene.

LNS has 3 typical symptoms. These are increased uric acid, neurological symptoms and behavioral disorders. Dystonia is often seen among its neurological manifestations. Signs of primidal and extraprimidal system can be seen.

It is very important to create the syndrome-specific physiotherapy program. In order to achieve this, evaluations based on the International Classification of Functioning, Disability and Health (ICF) model are valuable in terms of showing the right way in the management of the disease.

Condition or disease
Lesch-Nyhan Syndrome

Detailed Description:

Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism. It was described by Lesch and Nyhan in 1960. It is a genetic disorder that is carried by an X-linked recessive gene and is therefore predominantly seen in males.

LNS has 3 typical symptoms. These are increased uric acid, neurological symptoms and behavioral disorders. Self-harming behavior begins to appear from the age of 2. Dystonia is often seen among its neurological manifestations. Signs of primidal and extraprimidal system can be seen.

As developments in treatment methods continue in individuals with LNS, the expected life expectancy of these individuals is prolonged. However, these individuals require physiotherapy for symptoms specific to LNS.

Because of the developmental delay seen in babies with LNS, these babies may be diagnosed with cerebral palsy. It is very important to create the syndrome-specific physiotherapy program. In order to achieve this, evaluations based on the International Classification of Functioning, Disability and Health (ICF) model are valuable in terms of showing the right way in the management of the disease.

Study Design

• Study Type: Observational
• Estimated Enrollment: 1 participants
• Observational Model: Case-Only
• Time Perspective: Other
• Official Title: Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
• Estimated Study Start Date: September 26, 2022
• Estimated Primary Completion Date: September 30, 2022
• Estimated Study Completion Date: September 30, 2022

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

1. Demographic information form [ Time Frame: 20 munites ]
   This form was prepared by the researchers to obtain the demographic data of the case in the study.
2. Gross Motor Function Measure (GMFM) [ Time Frame: 45 minutes ]
   The Gross Motor Function Measure (GMFM) is an observational clinical tool designed to evaluate change in gross motor function in children with cerebral palsy, Down Syndrome and acquired brain damage.
3. Gross Motor Function Classification System (GMFCS) [ Time Frame: 10 munites ]
   Gross Motor Function Classification System developed in 1997[1] to classify and describe the abilities of children and youth with cerebral palsy. Generally, the higher the level the poorer the functional ability of the child.
4. Modified Ashworth Scale [ Time Frame: 10 minutes ]
   Modified Ashworth Scale (MAS) is used to assess spasticity. Modified Ashworth Scale (MAS) have been utilized in the following populations: stroke, spinal cord injury, cerebral palsy, traumatic brain injury, pediatric hypertonia and central nervous system lesions.
5. Functional Independence Measure (WeeFIM) [ Time Frame: 10 minutes ]
   The WeeFIM II® System, a pediatric version of the Functional Independence Measure™ (FIM) System, documents and tracks functional performance in children and adolescents with acquired or congenital disabilities by measuring a child's need for assistance, in addition to the severity of disability.
6. The Pediatric Quality of Life Inventory (PedsQL) [ Time Frame: 20 minutes ]
   The Pediatric Quality of Life Inventory (PedsQL) is a valid, practical, brief, standardized, generic, and self-reporting assessment tool to measure health-related quality of life HRQOL for pediatrics and adolescents, it can be carried by patients himself and their parents.The PedsQL 4.0 Generic Core Scales instrument is the last version of PedsQL contain 23-items, including formats for typically developing children and adolescents 2 to 18 years old.

Eligibility Criteria

• Ages Eligible for Study: Child, Adult, Older Adult
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

A case who had the Lesch-Nyhan Syndrome

Criteria

Inclusion Criteria:

• Having lesch-nyhan syndrome

Exclusion Criteria:

-

Contacts and Locations

Contacts

Contact: tuba kolaylı, MSc.; +905413698977; tubakolayli@gmail.com

Locations

Turkey

Üsküdar Üniversity; Recruiting

Istanbul, Turkey, 34768

Contact: tuba kolaylı, lecturer 05413698977 tubakolayli@gmail.com

Sponsors and Collaborators

Uskudar University

Investigators

• Principal Investigator: tuba kolaylı, MSc.; Uskudar University

More Information

• Responsible Party: tuba kolaylı, Lecturer, Uskudar University
• ClinicalTrials.gov Identifier: NCT05548751
• Other Study ID Numbers: UskudarU.
• First Posted: September 21, 2022
• Last Update Posted: September 21, 2022
• Last Verified: September 2022

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: Undecided

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by tuba kolaylı, Uskudar University:

case report; lesch-nyhan syndrome; genetic disorders

Additional relevant MeSH terms:

Lesch-Nyhan Syndrome; Syndrome; Disease; Pathologic Processes; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Mental Retardation, X-Linked; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Heredodegenerative Disorders, Nervous System; Metabolism, Inborn Errors; Purine-Pyrimidine Metabolism, Inborn Errors; Metabolic Diseases