Public AttitudesTowards SMA and DMD Awareness, Newborn and Carrier Screening and Physiotherapy Practices

Public Awareness Level of SMA and DMD Muscle Disorders in Turkey, Attitudes Toward Screening of Newborn and Carrier and Physiotherapy Practice

The addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial.

In this study, researchers aim to measure the awareness level of SMA and DMD muscle diseases of individuals living in Turkey and to obtain information about their attitudes towards newborn and carrier screening and physiotherapy practices.

Thus, this study aimed to determine the factors that affect people's views on this subject.

Study Overview

• Status: Not yet recruiting
• Conditions: Duchenne Muscular Dystrophy; Spinal Muscular Atrophy; Healthy Individuals
• Intervention / Treatment: Other: Questionnaire

Detailed Description

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by a mutation in survival motor neuron 1 (SMN1), characterized by progressive weakness and muscle atrophy. With an incidence of 1 in 10,000 and a carrier frequency of 1 in 50, SMA is one of the most common recessive genetic diseases. SMA muscle disease, which has a broad phenotype, is classified according to the age of onset of symptoms and motor milestones achieved. Type 1 SMA is the most common type that starts before 6 months. These babies, who never gain the ability to sit independently, have a severe weakness. It is also one of the most common genetic causes of death in children. Type 2 SMA occurs before 18 months. With milder weakness, these infants can sit but never walk independently. Type 3 SMA patients can ambulate. Type 4 SMA occurs with milder weakness in adults. Providing supportive treatment by a multidisciplinary team is essential for prolonging life and more comfortable life by reducing the severity of symptoms, especially in the most severe SMA cases. However, this is not enough to change the poor prognosis. FDA-approved drugs improve survival and motor function, allowing some SMA patients to reach motor milestones they've never reached before. The positive results of medical and physical treatments are most striking before the onset of the symptoms of weakness in infants.

Duchenne muscular dystrophy (DMD) is an X-linked recessive inherited disorder. Mutations in the dystrophin protein cause this progressive muscle disease, which affects one in 5000 male newborns in the world. However, developmentally delayed motor milestones, muscle weakness seen around 2-3 years of age, toe walking, frequent falls, calf hypertrophy, and Gowers Sign are warning signs for diagnosis. The time from the concern of the families to the certain diagnosis of the DMD is approximately 2 years. This delay in diagnosis can be devastating for the family and the patient, as muscle function declines during this time. Although DMD predominantly affects men, a small number of female carriers may present with a variety of symptoms. For this reason, genetic testing is recommended to find out the carrier status of female relatives of patients with DMD. A proactive approach and multidisciplinary teamwork are required in the care of DMD patients. Early diagnosis and timely access to treatment are promising for children with DMD.

In the light of all this information, the authors emphasize the importance of early newborn diagnosis and genetic carrier screening for these two serious muscle diseases. This study was designed to understand the general awareness of society on these devastating diseases. Furthermore, the attitude of people towards the newborn and genetic carrier screening, and the physiotherapy approach as a treatment method will be questioned during the study. A questionnaire was prepared to obtain information about the issues mentioned above, and it is not include any kind of scale. This questionnaire also includes the demographical questions to compare the attitudes and awareness between the different professions, ages and educational levels.

• Study Type: Observational
• Enrollment (Anticipated): 200

Contacts and Locations

• Study Contact: Name: Mislina Açoğlu; Phone Number: 0539 352 3247; Email: msln.acgl@gmail.com
• Study Contact Backup: Name: Çiçek Günday; Phone Number: 0507 188 8848; Email: cicek.gunday@istinye.edu.tr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 50 years (Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Individuals from different regions of Turkey who meet inclusion criteria

Description

Inclusion Criteria:

• All man and women 18-50 years old
• Volunteering to participate in the study
• Live in Turkey
• Being able to read and understand survey questions

Exclusion Criteria:

• Refusal to participate
• Cognitive impairment preventing understanding of the questionnaire and self-reporting

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Individuals living in Turkey; Individuals from different regions of Turkey who meet inclusion criteria	Other: Questionnaire; A questionnaire prepared by the researchers will be presented to the group.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Awareness level of community on the SMA and DMD diseases.	Questionnaire	Day 1.
Attitudes of community towards SMA/DMD newborn screening and carrier screening.	Questionnaire	Day 1.
Public opinion towards the effectiveness of physiotherapy and rehabilitation on DMD/SMA.	Questionnaire	Day 1.

Collaborators and Investigators

• Sponsor: Bahçeşehir University

Study record dates

Study Major Dates

• Study Start (Anticipated): November 1, 2021
• Primary Completion (Anticipated): January 1, 2022
• Study Completion (Anticipated): January 1, 2022

Study Registration Dates

• First Submitted: October 8, 2021
• First Submitted That Met QC Criteria: October 27, 2021
• First Posted (Actual): November 8, 2021

Study Record Updates

• Last Update Posted (Actual): November 10, 2021
• Last Update Submitted That Met QC Criteria: November 8, 2021
• Last Verified: November 1, 2021

More Information

Terms related to this study

• Keywords: Duchenne muscular dystrophy; Awareness; Spinal muscular atrophy; Prenatal Diagnosis; Physiotheraphy; Genetic Carrier Screening
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; Muscular Disorders, Atrophic; Motor Neuron Disease; Muscular Dystrophies; Muscular Atrophy; Atrophy; Muscular Dystrophy, Duchenne; Muscular Atrophy, Spinal
• Other Study ID Numbers: MSLN1602610

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No