Clinical trial NCT05548751: Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
Official title: Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Lesch-Nyhan Syndrome
Keywords: case report
lesch-nyhan syndrome
genetic disorders
Lead sponsor: Uskudar University
Sponsor class: OTHER
First posted: 2022-09-21
Enrollment: 1
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: A case who had the Lesch-Nyhan Syndrome

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.

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.

Eligibility criteria: Inclusion Criteria:

* Having lesch-nyhan syndrome

Exclusion Criteria:

-

Primary outcomes:
measure: Demographic information form
timeFrame: 20 munites
measure: Gross Motor Function Measure (GMFM)
timeFrame: 45 minutes
measure: Gross Motor Function Classification System (GMFCS)
timeFrame: 10 munites
measure: Modified Ashworth Scale
timeFrame: 10 minutes
measure: Functional Independence Measure (WeeFIM)
timeFrame: 10 minutes
measure: The Pediatric Quality of Life Inventory (PedsQL)
timeFrame: 20 minutes
Secondary outcomes:
Other outcomes:
Locations:
city: Istanbul
country: Turkey
facility: Üsküdar Üniversity
Study officials:
affiliation: Uskudar University
name: tuba kolaylı, MSc.
role: PRINCIPAL_INVESTIGATOR
References: