Neuropsychological Profiles of Children With Duchenne Muscular Dystrophy and Its Effects on Motor Functions

NCT05661071 | Unknown

• 1 other identifier: GO22/310
• Study Type: observational
• Target: 74
• Locations: 1 country
• Sites: 1

Brief Summary

This study was planned to determine neuropsychological profiles of children with Duchenne Muscular Dystrophy and investigation of its effects on motor functions \& compare to typically developed peers.

Conditions

Duchenne Muscular Dystrophy

Keywords

Duchenne Muscular Dystrophy (DMD); neuropsychological profile; cognitive status; neurodevelopmental status; motor function; balance

Outcome Measures

Primary Outcomes (14)

• Modified Mini Mental Test

  The Mini Mental Test developed for adults was adapted to the pediatric population by making minor modifications. Test; It evaluates verbal responses including attention, orientation, memory and language skills, ability to obey verbal and written orders, write spontaneous sentences, and copy a complex drawing. The highest score that can be obtained from this test is 35, the lowest score is 0.

  only baseline

• The Controlled Oral Word Association Test

  This test requires the individual to name as many words as possible that begin with a given letter, i.e. K, A and S. Sixty seconds are allotted for each letter. Individuals cannot use proper names or numbers and cannot use words with different tenses or endings once the root word has been given

  only baseline

• The Central Nervous System Vital Signs

  Central Nervous System Vital Signs is a reimbursable assessment procedure that utilizes computerized neuropsychological tests to evaluate the neurocognitive status of patients and covers a range of mental processes from simple motor performance, attention, memory, to executive functions.

  only baseline

• Conners' Parent Rating Scale-48 (Parent Report)

  The Conners' Parent Rating Scale-48 contains 48 items wherein the frequency of each item is rated on a 4-point Likert scale ranging from not at all (0)-3 very much (3). The test has adequate psychometric properties and is widely used for clinical and research purposes with the attention deficit/hyperactivity disorder population

  only baseline

• Child Behavior Checklist 6-18 ages (Parent Report)

  The Child Behavior Checklist/6-18 assesses both child adaptive behaviors and problem behaviors. There are 112 items that assess problem behaviors and 20 items that assess adaptive behavior. Response format for problem behaviors is from 0 ("not true") to 2 ("very true"). The problem behavior items load onto two broad-band scales (Internalizing and Externalizing) and eight narrow-band scales (Rule Breaking, Aggressive Behavior, Withdrawn-Depressed, Somatic Complaints, Anxious Depressed, Social Problems, Thought Problems, and Attention Problems). The adaptive behavior items load onto three scales: Activities, Social Competence, and School Competence. A Total Competence and Total Behavior Problems score are also provided.

  only baseline

• Strengths and Difficulties Questionnaire (Self-Reported)

  The Strengths and Difficulties Questionnaire is a brief emotional and behavioural screening questionnaire for children and young people. The tool can capture the perspective of children. The 25 items in the test comprise 5 scales of 5 items each. The scales include: emotional symptoms subscale, conduct problems subscale, hyperactivity/inattention subscale, peer relationships problem subscale, prosocial behaviour subscale.

  only baseline

• Brooke Lower Extremity Functional Classification

  It was developed using the classification method based on "Vignos et al." to determine the functional status of the lower extremity. It consists of 10 different levels, ranging from Level 1 (walks independently and climbs stairs) to Level 10 (bound to bed).

  only baseline

• Motor Function Measurement-32 Items

  The Motor Function Measure is a scale designed for the assessment of motor function and progression of weakness in neuromuscular disorders. It is applicable to both ambulant and non-ambulant patients with a wide range of severity. The scale exists in two versions, one with 32 items for patients over 6 years of age (MFM-32), the other with 20 items for children aged from 2 to 6 years (MFM-20). Concerning the development of the scale, factor analysis identified three functional dimensions: D1 = standing position and transfers (13 items; 8 items in the short version), D2 = axial and proximal motor function (12 items; 8 in the short version), and D3 = distal motor function (7 items; 4 in the short version).

  only baseline

• Four Square Step Test

  It is a valid and reliable test that has been used frequently in children in recent years to evaluate dynamic balance. Sticks, each 90 cm long, are placed on the floor to form 4 squares and the squares are numbered from 1 to 4. For the test to be completed successfully, the child must quickly move from one square to the next without touching the sticks. Performance is determined by measuring the test completion time in seconds. Shorter completion time means better dynamic balance.

  only baseline

• Six Minutes Walk Test

  The 6-minutes walk test, which is valid and reliable for DMD patients, will evaluate the walking function and physical capacity of children at the submaximal level. The distance the child walks for 6 minutes in a 25 m corridor will be recorded in meters. A physiotherapist will walk with the children during the test and track the time with a stopwatch. The test is simple and considered an important outcome measure for children with DMD.

  only baseline

• 10 meters Walk& Run Test

  A 10-meter distance was marked on an unobstructed, flat surface using tape. To limit the impact of acceleration and deceleration on gait speed, start and finish lines were placed 30 centimeter before and after the 10-meter distance. Participants were instructed to begin with toes on the start line and walk or run as fast as possible, without compromising safety, to the finish line.

  only baseline

• Gower's(from a supine to a standing position)

  Children lied down on a mat with straight position and asked them to stand up as fast as possible. Time was started when he moved and stopped when he was upright position.

  only baseline

• Right& Left Leg Standing Test

  Children had to maintain a one-legged stance for as long as they could with their eyes open, and allowing them to freely-move their arms. Children were verbally encouraged to maintain the one-legged standing position for as long as possible during test.

  only baseline

• Ascent/Descent of 4 Steps

  The children were asked to climb up the 4-step ladder with double-sided handrails as fast as possible. The time was started when his feet lifted from the ground and when both feet touched the ground, the time was stopped and recorded in seconds. After climbing the ladder, they were asked to descend as fast as possible, the time was started when the foot was lifted, and the time was stopped when both feet touched the ground and recorded in seconds.

  only baseline

Secondary Outcomes (1)

• Genetic test report

  only baseline

Study Arms (2)

Duchenne Muscular Dystrophy

Children with Duchenne Muscular Dystrophy (DMD) between the ages of 7 and 16 who have been diagnosed with DMD as a result of genetic testing

Other: Modified Mini Mental Test:; Other: The Controlled Oral Word Association Test; Other: The Central Nervous System Vital Signs; Other: Conners' Parent Rating Scale-48 (Parent Report); Other: Child Behavior Checklist 6-18 ages (Parent Report); Other: Strengths and Difficulties Questionnaire (Self-Reported); Other: Brooke Lower Extremity Functional Classification; Other: Motor Function Measurement-32 Items; Other: Four Square Step Test; Other: Six Minutes Walk Test; Other: Timed Performance Test

Typically Developed Children

Typically Developed Children with similar physical characteristics between the ages of 7 and 16

Other: Modified Mini Mental Test:; Other: The Controlled Oral Word Association Test; Other: The Central Nervous System Vital Signs; Other: Conners' Parent Rating Scale-48 (Parent Report); Other: Child Behavior Checklist 6-18 ages (Parent Report); Other: Strengths and Difficulties Questionnaire (Self-Reported)

Interventions

Modified Mini Mental Test: OTHER

To assess the cognitive function of children

Duchenne Muscular Dystrophy; Typically Developed Children

The Controlled Oral Word Association Test OTHER

To assess the cognitive function of children

Duchenne Muscular Dystrophy; Typically Developed Children

The Central Nervous System Vital Signs OTHER

To assess the cognitive function of children

Duchenne Muscular Dystrophy; Typically Developed Children

Conners' Parent Rating Scale-48 (Parent Report) OTHER

To assess attention-deficit/hyperactivity disorder

Duchenne Muscular Dystrophy; Typically Developed Children

Child Behavior Checklist 6-18 ages (Parent Report) OTHER

To assesses both child adaptive behaviors and problem behaviors.

Duchenne Muscular Dystrophy; Typically Developed Children

Strengths and Difficulties Questionnaire (Self-Reported) OTHER

It is a brief emotional and behavioural screening questionnaire for children and young people.

Duchenne Muscular Dystrophy; Typically Developed Children

Brooke Lower Extremity Functional Classification OTHER

To determine the functional status of the lower extremity

Duchenne Muscular Dystrophy

Motor Function Measurement-32 Items OTHER

To assessment of motor function and progression of weakness in neuromuscular disorders

Duchenne Muscular Dystrophy

Four Square Step Test OTHER

A test of dynamic balance and coordination that clinically assesses the participant's ability to step over objects forward, sideways, and backwards.

Duchenne Muscular Dystrophy

Six Minutes Walk Test OTHER

It evaluates the walking function and physical capacity of children at the submaximal level.

Duchenne Muscular Dystrophy

Timed Performance Test OTHER

10 meters Walk\& Run Test, Gower's(from a supine to a standing position), Right\& Left Leg Standing, Ascent/Descent of 4 Steps

Duchenne Muscular Dystrophy

Eligibility Criteria

• Age: 7 Years - 16 Years
• Gender Eligibility Details: Duchenne muscular dystrophy is an X-linked disease which effects boys.
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Children with Duchenne Muscular Dystrophy

You may qualify if:

• Having been diagnosed with DMD by a pediatric neurologist,
• Being between the ages of 7-16,
• Not to have any diagnosed chronic disease,
• Not having lost yet the ability to write and draw as required by neuropsychological assessments,
• Cooperate with the physiotherapist and be able to comply with their instructions.

You may not qualify if:

• Inability to cooperate adequately with the physiotherapist who made the evaluations,
• Have had any injury and/or surgery to the lower/upper extremities in the last 6 months, which may prevent the performance of motor function tests.

Sponsors & Collaborators

• Hacettepe University: lead

Study Sites (1)

Hacettepe University, Faculty of Physical Therapy and Rehabilitation, Pediatric Neuromuscular Diseases Unit for physiotherapy and rehabilitation

Ankara, 06100, Turkey (Türkiye)

Location

Related Publications (1)

• Aldirmaz E, Bulut N, Yilmaz O, Alemdaroglu-Gurbuz I. Cognitive and emotional-behavioural outcomes of Turkish Duchenne muscular dystrophy population and its association with motor function. Eur J Paediatr Neurol. 2024 Sep;52:86-94. doi: 10.1016/j.ejpn.2024.08.004. Epub 2024 Aug 18.

  PMID: 39180809 DERIVED

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Interventions

Self Report

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Surveys and Questionnaires; Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• İpek Gürbüz, Assc. Prof.

  Hacettepe University

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: December 4, 2022
• First Posted: December 22, 2022
• Study Start: May 11, 2022
• Primary Completion: March 1, 2023
• Study Completion: March 1, 2023
• Last Updated: December 22, 2022

Record last verified: 2022-12

Locations

TU (1)