Clinical trial NCT04228718: The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs
Official title: The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Spinal Muscular Atrophy
Caregiver Burden
Keywords: Spinal Muscular Atrophy
Caregiver Burden
Disabled persons
Caregivers
Lead sponsor: Marmara University
Sponsor class: OTHER
First posted: 2020-01-14
Enrollment: 34
Sex: ALL
Minimum age (years): 1
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with SMA type 1, type 2 or type 3 between the ages of 0-18 and their caregivers.

Brief summary: The purpose of this study is to assess carer burden, needs, and expectations of Spinal Muscular Atrophy Parents

Detailed description: Spinal muscular atrophy (SMA) is a group of neuromuscular diseases involving the spinal cord anterior horn cells and brain stem motor nuclei. It is followed by programmed cell death. It progresses with symmetrical weakness and atrophy of voluntary muscles throughout the body. It leads to a decrease in mobility with progressive loss of power, and pulmonary function impairment with the involvement of the respiratory muscles.

Families who are confronted with these problems that arise after the birth of the baby or shortly after birth have a serious adaptation problem. When the course of the disease and its incurability are explained, patients and their families are under severe stress. Physical and emotional health is worse than normal healthy growing children's parents.

They need information, psychological and social support. The role of the family is very important in the life of children with disabilities. Family-oriented care; has been developed to facilitate the care process of children with special needs and to help their families. The main characteristics of the family-oriented approach are that families know their children in the best way, that each family is unique and different, and that family and community support is provided for the child's functionality. The assessment of family function helps the planning and management of treatment according to the concerns of the family. The education of the family, the socio-cultural structure and the psychological approach of the parents play an important role in the development of the child with SMA.

The aim of this study was to evaluate the care burden, needs and expectations of SMA parents and to reveal the problems clearly; so that this information can be used in rehabilitation planning and interpretation of results.

Eligibility criteria: Inclusion Criteria:

1. Patients with spinal muscular atrophy at between the ages of 0-18
2. Agree to participate in the study

Exclusion Criteria:

1-Refuse to participate in the study

Primary outcomes:
measure: Zarit Burden Interview Scale
timeFrame: Day 0
measure: Family Needs Survey (FNS)
timeFrame: Day 0
Secondary outcomes:
measure: Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)
timeFrame: Day 0
measure: Hammersmith Functional Motor Scale Expanded (HMFSE)
timeFrame: Day 0
Other outcomes:
Locations:
city: Istanbul
country: Turkey
facility: Marmara University School of Medicine Department of Physical Medicine and Rehabilitation
Study officials:
affiliation: Department of PM&R, Marmara University School of Medicine
name: Naime Evrim Karadag Saygi, Prof
role: STUDY_DIRECTOR
affiliation: Department of Physiotherapy and Rehabilitation, Maltepe University
name: Ayca Evkaya, Res. Asst.
role: PRINCIPAL_INVESTIGATOR
References:
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citation: Wirth B, Brichta L, Schrank B, Lochmuller H, Blick S, Baasner A, Heller R. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet. 2006 May;119(4):422-8. doi: 10.1007/s00439-006-0156-7. Epub 2006 Mar 1.
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