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

NCT05548751 | Unknown

• 1 other identifier: UskudarU.
• Study Type: observational
• Target: 1
• Locations: 1 country
• Sites: 1

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.

Conditions

Lesch-Nyhan Syndrome

Keywords

case report; lesch-nyhan syndrome; genetic disorders

Outcome Measures

Primary Outcomes (6)

• Demographic information form

  This form was prepared by the researchers to obtain the demographic data of the case in the study.

  20 munites

• Gross Motor Function Measure (GMFM)

  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.

  45 minutes

• Gross Motor Function Classification System (GMFCS)

  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.

  10 munites

• Modified Ashworth Scale

  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.

  10 minutes

• Functional Independence Measure (WeeFIM)

  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.

  10 minutes

• The Pediatric Quality of Life Inventory (PedsQL)

  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.

  20 minutes

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

A case who had the Lesch-Nyhan Syndrome

You may qualify if:

• Having lesch-nyhan syndrome

Sponsors & Collaborators

• Uskudar University: lead

Study Sites (1)

Üsküdar Üniversity

Istanbul, 34768, Turkey (Türkiye)

RECRUITING

MeSH Terms

Conditions

Lesch-Nyhan Syndrome; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Genetic Diseases, X-Linked; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Metabolism, Inborn Errors; Purine-Pyrimidine Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• tuba kolaylı, MSc.

  Uskudar University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

tuba kolaylı, MSc.

CONTACT

+905413698977; tubakolayli@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Lecturer

Study Record Dates

• First Submitted: September 16, 2022
• First Posted: September 21, 2022
• Study Start: September 26, 2022
• Primary Completion: September 30, 2022
• Study Completion: September 30, 2022
• Last Updated: September 21, 2022

Record last verified: 2022-09

Locations

TU (1)