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

NCT ID: NCT05661071

Last Updated: 2022-12-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

74 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-05-11

Study Completion Date

2023-03-01

Brief Summary

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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.

Detailed Description

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In this thesis, it is aimed to determine the neuropsychological profiles of children with Duchenne Muscular Dystrophy (DMD) and to investigate its effects on motor functions. The study will be carried out with children between the ages of 7 and 16 who have been diagnosed with DMD as a result of genetic testing and who applied to Hacettepe University, Faculty of Physical Therapy and Rehabilitation, Pediatric Neuromuscular Diseases Unit for physiotherapy and rehabilitation evaluation. In addition, considering the primary purpose of the study, typically developed boys between the ages of 7 and 16 with similar physical characteristics will be included in the study and compared with children with DMD. Typically developed boys included in the study will be evaluated only with neuropsychological tests. Evaluating cognitive function from neuropsychological tests; Modified Mini Mental Test, The Controlled Oral Word Association Test,computer-based The Central Nervous System Vital Signs will be applied. To evaluate neurodevelopmental status from neuropsychological tests; Conners' Parent Rating Scale, Child Behavior Checklist, Strengths and Difficulties Questionnaire (SDQ) will be applied. To evaluate the motor functions of individuals with DMD; Brooke Lower Extremity Functional Classification, Motor Function Measurement, Four Square Step Test, Six Minutes Walk Test, Timed Performance Tests (10 meters Walk/Run Test, Gower's (from a supine to a standing position), Right/Left Leg Standing, Ascent/Descent of 4 Steps) will be used. In the study, in which the effect of the mutation region of dystrophin protein isoforms causing DMD on the neuropsychological profile of children will be investigated by comparing them with typically developed boys and the effect of this on motor function will be examined, the statistical significance level will be considered as p\<0.05

Conditions

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Duchenne Muscular Dystrophy

Keywords

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

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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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

Modified Mini Mental Test:

Intervention Type OTHER

To assess the cognitive function of children

The Controlled Oral Word Association Test

Intervention Type OTHER

To assess the cognitive function of children

The Central Nervous System Vital Signs

Intervention Type OTHER

To assess the cognitive function of children

Conners' Parent Rating Scale-48 (Parent Report)

Intervention Type OTHER

To assess attention-deficit/hyperactivity disorder

Child Behavior Checklist 6-18 ages (Parent Report)

Intervention Type OTHER

To assesses both child adaptive behaviors and problem behaviors.

Strengths and Difficulties Questionnaire (Self-Reported)

Intervention Type OTHER

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

Brooke Lower Extremity Functional Classification

Intervention Type OTHER

To determine the functional status of the lower extremity

Motor Function Measurement-32 Items

Intervention Type OTHER

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

Four Square Step Test

Intervention Type OTHER

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

Six Minutes Walk Test

Intervention Type OTHER

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

Timed Performance Test

Intervention Type OTHER

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

Typically Developed Children

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

Modified Mini Mental Test:

Intervention Type OTHER

To assess the cognitive function of children

The Controlled Oral Word Association Test

Intervention Type OTHER

To assess the cognitive function of children

The Central Nervous System Vital Signs

Intervention Type OTHER

To assess the cognitive function of children

Conners' Parent Rating Scale-48 (Parent Report)

Intervention Type OTHER

To assess attention-deficit/hyperactivity disorder

Child Behavior Checklist 6-18 ages (Parent Report)

Intervention Type OTHER

To assesses both child adaptive behaviors and problem behaviors.

Strengths and Difficulties Questionnaire (Self-Reported)

Intervention Type OTHER

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

Interventions

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Modified Mini Mental Test:

To assess the cognitive function of children

Intervention Type OTHER

The Controlled Oral Word Association Test

To assess the cognitive function of children

Intervention Type OTHER

The Central Nervous System Vital Signs

To assess the cognitive function of children

Intervention Type OTHER

Conners' Parent Rating Scale-48 (Parent Report)

To assess attention-deficit/hyperactivity disorder

Intervention Type OTHER

Child Behavior Checklist 6-18 ages (Parent Report)

To assesses both child adaptive behaviors and problem behaviors.

Intervention Type OTHER

Strengths and Difficulties Questionnaire (Self-Reported)

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

Intervention Type OTHER

Brooke Lower Extremity Functional Classification

To determine the functional status of the lower extremity

Intervention Type OTHER

Motor Function Measurement-32 Items

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

Intervention Type OTHER

Four Square Step Test

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

Intervention Type OTHER

Six Minutes Walk Test

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

Intervention Type OTHER

Timed Performance Test

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

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* 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.

Exclusion Criteria

* 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.
Minimum Eligible Age

7 Years

Maximum Eligible Age

16 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

Yes

Sponsors

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Hacettepe University

OTHER

Sponsor Role lead

Responsible Party

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Esra Aldırmaz

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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İpek Gürbüz, Assc. Prof.

Role: STUDY_DIRECTOR

Hacettepe University

Locations

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

Ankara, , Turkey (Türkiye)

Site Status

Countries

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Turkey (Türkiye)

References

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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.

Reference Type DERIVED
PMID: 39180809 (View on PubMed)

Other Identifiers

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GO22/310

Identifier Type: -

Identifier Source: org_study_id