Diagnosis and referrals to physical therapy among caregivers of children with genetic disorders: a qualitative inquiry

Abstract

Purpose

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.

Materials and methods

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.

Results

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.

Conclusion

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.

IMPLICATIONS FOR REHABILITATION

• 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.

Keywords:

• Genetic disorders
• physical therapy
• caregivers
• referrals
• diagnosis

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.