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

Gmmash, Afnan S; Alsobhi, Mashael; Alzahrani, Nouran Mohammed; Balamash, Lama Mohammed; Alsubhi, Rahaf Mansour; Almaddah, Muataz

doi:10.1080/09638288.2023.2206164

Cited by 1 publication

(1 citation statement)

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“…The procedure of referring children with genetic diseases to physical therapy is sometimes unclear to carers. To encourage adherence to physiotherapy sessions and rehabilitation programs, it is imperative to provide carers with information regarding the benefits of physical therapy for children with genetic abnormalities [ 12 ]. In this study, we aim to report a case of a two-year-old male child diagnosed with type 1 lissencephaly and the role of physiotherapy in managing the complaints.…”

Section: Introductionmentioning

confidence: 99%

Role of Physiotherapy in Pediatric Lissencephaly: A Case Report and Therapeutic Insights

Sasun,

Sharath

2024

Cureus

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Type 1 lissencephaly is a genetic disorder of chromosomal abnormality. This case report glimpses at the physiotherapy rehabilitation for a two-year-old male brought by his parents with complaints of being unable to move his upper and lower limbs, delayed milestones as compared to his peer group, and difficulty in swallowing. Physiotherapy rehabilitation included Rood's approach to neurodevelopmental techniques, hippotherapy, vestibular ball rehabilitation exercises, oral sensorimotor stimulation, and tactile stimulation. The protocol lasted for 12 weeks. At the end of the rehabilitation, there was a significant improvement in the tone of the muscles and delayed developmental milestones. Through this case report, we conclude about the importance of genetic counseling to the parents of genetic disorders babies. We ought to improve awareness about the pivotal role of physiotherapy in managing such disorders. We conclude that physiotherapy significantly improved the symptoms and improved the quality of life of patients with type 1 lissencephaly.

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Section: Introductionmentioning

confidence: 99%