Stickler syndrome

Disability Report: Stickler Syndrome

Introduction

Stickler syndrome is a genetic disorder that affects connective tissues and causes hearing, joint, movement, and vision problems (Temple, 1989). Associated with the syndrome, a defective collagen is the main factor of vision abnormalities in the eye's cornea and sclera. The syndrome is characterized by risk of retinal detachment, myopia, and flattened facial features. The condition is rare with approximately 1 in 10,000 births being affected, and a parent with the syndrome has a fifty-percent chance of passing the disorder to the child.

A child with Stickler syndrome is at risk of being born with severe nearsightedness. This combination of features can affect a child's development in all areas, such as their mobility, daily living, and speech.

Diagnosis Process

The diagnosis process is examined by an ophthalmologist through clinical evaluation of medical history, physical examination, and characteristic findings. Stickler syndrome is considered through a combination category of orofacial, ocular, auditory, skeletal, family history, and molecular genetic testing. The physical examination of orofacial is identified at birth and the "characteristic facial features includes micro/retrognathia, hypoplasia, and broad nasal bridge" (Robin, Moran, & Ala-Kokko, 2017).

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A diagnosis process in determining the auditory abnormalities is through a comprehensive eye exam of visual acuity, pupil response, peripheral vision, eye movement, eye pressure, retina, and optic nerve are processed.

Effects of Diagnosis

The effects of the diagnosis on all areas of development in some cases are development of hearing loss, mobility, and visual. The level of hearing loss varies from one child to another and may be progressive.

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In addition, a child with Stickler syndrome may be affected with their ability to walk, due to the pain in their knees and joints. As a result, a child with visual and mobility forms of Stickler syndrome are limited from outdoor sports.

Secondary Effects

Stickler syndrome's secondary effects are common with hearing and mobility difficulties, which affects a child's ability to hear high-frequency volume. This may also be secondary to persistent ear infections that are often associated with cleft palate (Robin, Moran, & Ala-Kokko, 2017). In addition, it may be caused from the auditory ossicles of the middle ear. The jawbone and bone complications associated with Stickler syndrome may increase the chance of arthritis.

Treatment

The recommended treatment of Stickler syndrome is geared toward the specific symptoms that are evident in each person. It is vital to identify Stickler syndrome early on to increase the chance of effective treatment of related abnormalities. A child with retinal detachment can be treated through surgical intervention and prophylactic cryotherapy to protect vision. However, the detachment could possibly reappear after surgery. Retinal detachment in Stickler syndrome can be effectivity treated with prophylactic treatment with combination of therapy treatment during the early stage of diagnosis (Carroll, Papaioannou, Rees, & Kaltenthaler, 2011). The early intervention treatment effectiveness varies depending on the severity of the individual. A child with hearing loss may be treated through myringotomy surgery or hearing aids. In some cases, physical therapy may support some children with mobility disability associated with stiffness, joint, and knee problems.

Research-Based Intervention

A research-based intervention is the program or method of instruction based on practices demonstrated effective through research (Batshaw, 2007). One research-based intervention recommended for a child with Stickler syndrome due to hearing, vision, and mobility disabilities is support by a special education teacher along with accommodations and interventions across the classroom setting. For example, a student with mobility disabilities can be given opportunities to move around in school to encourage movement and help prevent extended time of sitting or standing. For vision and hearing disabilities, accommodations in the classroom is providing large print of materials and facilitate the use of assistive devices, such as the frequency modulated system.

Family Implications

As family deals with the findings of their child diagnosed with Stickler syndrome, it is essential for professionals and educators to be familiar about strategies and resources that can help the family cope with the process (Batshaw, 2007). With sufficient strategies and resources, families can become specialists in finding their child's needs and become a supportive advocate for their child's medical and education services. Joining a parenting network to exchange information is strongly suggested in helping family to cope through the process of a child associated with hearing, vision, speaking, and mobility disabilities.

In today's society, there are many apparent ethical considerations families face concerning children with disabilities (Batshaw, 2007). For example, a family may not accept the practice of medicine due to their religious belief. It is important for health care professionals to consider the ethical beliefs of a family and seek out alternative practical steps. In addition, for early-intervention educators, the awareness of different perspectives is necessary when implementing strategies in the classroom. As a result, understanding families' ethical decisions creates continuous relationships and development in a long-term positive educational and social outcome for a child with a disability.

Suggested Intervention

As a future educator, the interventions and service delivery model I would use for a child with Stickler syndrome is providing all the possible resources and support. Supportive team made of psychologist, speech therapist, occupational therapist, adaptive physical therapist, and paraprofessionals would jointly work together and advocate in helping a child of Stickler syndrome. The team would help the child to be comfortable to the school environment as much as possible, while working to enhance students learning.

Conclusion

There is no current cure for Stickler syndrome and different children are affected in different ways. However, research has shown the syndrome to be a manageable condition. It also has proven with the help of early-intervention, children with Stickler syndrome can go on to live a healthy life. There are various methods and resources to help manage the progressive condition. It is important for families and professionals to identify the signs and symptoms associated with the syndrome at an early age.

Updated: Oct 10, 2024
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Stickler syndrome. (2019, Nov 29). Retrieved from https://studymoose.com/stickler-syndrome-example-essay

Stickler syndrome essay
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