Diagnosis and referrals to physical therapy among caregivers of children with genetic disorders: a qualitative inquiry
Creators: name: Gmmash, Afnan
name: Alsobhi, Mashael
name: Alzahrani, Nouran Mohammed
name: Balamash, Lama Mohammed
name: Alsubhi, Rahaf Mansour
name: Almaddah, Muataz
Publisher: name: Taylor & Francis
Year: 2023
Subjects: subject: Biophysics
subject: Medicine
subject: Genetics
subject: FOS: Biological sciences
subject: Neuroscience
subject: Biological Sciences not elsewhere classified
subject: Science Policy
subject: Mental Health
subject: Infectious Diseases
subject: FOS: Health sciences

description: Genetic disorders are common in Saudi Arabia. Impaired motor development is one of the major characteristics associated with genetic disorders. Early identifications and referrals are key to receiving physical therapy. This study aims to explore caregivers of children with genetic disorders’ experience with early identification and referrals to physical therapy. An inductive qualitative design of 16 caregivers of children with genetic disorders was done to investigate the identification and referral process to physical therapy. A thematic analysis was used to analyze the data and multiple coders coded the data to increase the trustworthiness of the analysis. The analysis led to emergence of four main themes. Caregivers revealed their struggle with the detection process. They struggled with the vague information related to their children’s condition. They also expressed a desperate need for guidance to clarify the process for genetic testing, counseling, and rehabilitation. Although their overall experience with physical therapy was satisfactory, they encountered a number of issues related to scheduling appointments, delayed referrals, and unconfirmed diagnoses. The results of this study could indicate that more efforts are required to expedite and elucidate the identification and referral of children with genetic disorders in Saudi Arabia. The process of referring children with genetic disorders to physical therapy (PT) is not clearly understood by caregivers. Providing caregivers with information about the benefits of PT for children with genetic disorders is needed to encourage adherence to PT sessions and rehabilitation plan.Caregivers expressed the need for further education on the wide spectrum of genetic disorders.Caregivers experienced costly and lengthy genetic testing process that often lead to inconclusive results which could delay the referral process. Alternative solutions should be considered to provide these children with early access to rehabilitation services including PT. One of these solutions could be implementing regular screening and monitoring as well as parent education to aid in detecting delays and expedite the referral process. The process of referring children with genetic disorders to physical therapy (PT) is not clearly understood by caregivers. Providing caregivers with information about the benefits of PT for children with genetic disorders is needed to encourage adherence to PT sessions and rehabilitation plan. Caregivers expressed the need for further education on the wide spectrum of genetic disorders. Caregivers experienced costly and lengthy genetic testing process that often lead to inconclusive results which could delay the referral process. Alternative solutions should be considered to provide these children with early access to rehabilitation services including PT. One of these solutions could be implementing regular screening and monitoring as well as parent education to aid in detecting delays and expedite the referral process.