Syndromic scoliosis is a specific type of scoliosis that is caused by underlying medical conditions, including certain genetic, neuromuscular, or connective tissue disorders. Unlike idiopathic scoliosis, which has no known cause, syndromic scoliosis is the result of these conditions. These underlying conditions can lead to spinal deformities and curvature, which require specialized treatment and management. In this blog, we will explore the factors causing syndromic scoliosis, the impact of these conditions on the spine, and the various treatment options available for individuals with syndromic scoliosis at Hassenfeld Children’s Hospital at NYU Langone.

Causing-Syndromic-Scoliosis

Understanding Syndromic Scoliosis

Syndromic scoliosis refers to curvature of the spine that occurs in individuals with specific medical conditions, including the syndromic population. Unlike congenital scoliosis, which is present at birth, syndromic scoliosis typically develops early in life, often before the age of 5. The severity of the spinal curve varies depending on the underlying syndrome, and each case of syndromic scoliosis requires a tailored approach to address the medical complexities involved. Early onset of a spine curve presents unique challenges in treatment, and syndromic scoliosis may cause additional spinal deformities in children with medical syndromes.

What is Syndromic Scoliosis?

Syndromic scoliosis is a specific type of scoliosis that occurs as a result of underlying medical conditions. Unlike congenital scoliosis, which is present at birth, syndromic scoliosis typically develops early in life, often before the age of 5. It is characterized by an abnormal curvature of the spine, which can range from mild to severe. Adolescent idiopathic scoliosis (AIS) is the most studied and published-upon category of scoliosis, providing a reference point for our data.

Syndromic scoliosis is different from idiopathic scoliosis, which has no known cause. Instead, syndromic scoliosis is associated with certain medical conditions, such as genetic disorders, neuromuscular conditions, and connective tissue disorders. These conditions can affect the development of the spine, leading to the curvature seen in syndromic scoliosis.

Some of the medical conditions that can cause syndromic scoliosis include Marfan syndrome, Down syndrome, Rett syndrome, neurofibromatosis, Ehlers-Danlos syndrome, Osteogenesis Imperfecta, Prader-Willi syndrome, and Friedreich’s ataxia. Each of these conditions has its own unique impact on the spine and requires specific management strategies.

Children with syndromic scoliosis often have additional medical challenges in addition to the spinal deformity. Early onset scoliosis, a form of syndromic scoliosis that appears in children under the age of 5, requires early intervention and careful treatment planning due to the potential for rapid progression of the spinal curve. Managing the medical conditions associated with syndromic scoliosis is an important aspect of the overall treatment approach.

How does it differ from other types of scoliosis?

Syndromic scoliosis is a type of scoliosis that occurs as part of an underlying syndrome or condition, such as genetic disorders or neuromuscular conditions. Unlike other types of scoliosis which may have no known cause, syndromic scoliosis can be attributed to a specific syndrome or condition.

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The Spinal Curve in Syndromic Scoliosis

The spinal curve in syndromic scoliosis can vary in severity and presentation depending on the underlying medical condition. The curvature of the spine is typically measured using the Cobb angle, a standard measurement used in scoliosis diagnosis. This angle represents the degree of curvature present in the spine.

The severity of the curve in syndromic scoliosis can range from mild to severe. A mild curve may be manageable with conservative treatment options, such as bracing or physical therapy. However, more severe curves may require surgical intervention to correct the deformity and prevent further progression.

In addition to the severity of the curve, the specific medical condition associated with syndromic scoliosis can also impact the spinal deformities present. For example, in neurofibromatosis, the spine may develop multiple curves or significant deformities. Marfan syndrome, on the other hand, can lead to a more flexible spine, increasing the risk of curvature progression.

Understanding the spinal curve and the potential deformities associated with syndromic scoliosis is crucial for treatment planning. It allows healthcare professionals to tailor the treatment approach to address the unique challenges posed by the underlying medical condition.

Underlying Conditions Causing Syndromic Scoliosis

The spinal deformity in syndromic scoliosis is caused by underlying medical conditions, such as genetic disorders, neuromuscular conditions like cerebral palsy, and connective tissue disorders. These conditions affect the normal development and structure of the spine, resulting in the curvature seen in syndromic scoliosis. Some of the common medical conditions associated with syndromic scoliosis include Marfan syndrome, Down syndrome, Rett syndrome, neurofibromatosis, Ehlers-Danlos syndrome, Osteogenesis Imperfecta, Prader-Willi syndrome, and Friedreich’s ataxia. Each of these conditions, including cerebral palsy, has its own unique impact on the spine, requiring specialized management and treatment approaches.

Underlying-Conditions-Causing-Syndromic-Scoliosis

Marfan Syndrome

Marfan syndrome is a genetic connective tissue disorder characterized by abnormalities in the body’s connective tissue, which provides support and flexibility to structures like the heart, blood vessels, bones, and ligaments. In individuals with Marfan syndrome, the connective tissue is weaker and less able to provide the necessary support, resulting in a range of medical complications, including scoliosis.

  • Marfan syndrome increases the risk of idiopathic scoliosis, affecting the curvature of the spine.
  • Surgical correction of scoliosis in individuals with Marfan syndrome can be challenging due to the fragility of the connective tissue.
  • The severity of scoliosis in individuals with Marfan syndrome can vary depending on the specific connective tissue disorder.
  • Marfan syndrome predisposes individuals to spinal deformity complications, which may require surgical intervention.
  • The presence of spinal curvature in individuals with Marfan syndrome may impact the outcomes of surgical correction.

Down Syndrome

Down syndrome, also known as Trisomy 21, is a genetic disorder caused by the presence of an extra copy of the 21st chromosome. This additional genetic material can affect the development of various systems in the body, including the spine. Children with Down syndrome are at a higher risk of developing neuromuscular scoliosis, which is characterized by the abnormal curvature of the spine.

  • Down syndrome is a common cause of neuromuscular scoliosis in children.
  • The spinal deformity associated with Down syndrome may progress rapidly, requiring early intervention.
  • Surgical intervention for scoliosis in individuals with Down syndrome requires careful consideration of the unique challenges posed by the child’s spine.
  • Children with Down syndrome are more likely to develop severe scoliosis curvature, which can impact their mobility and overall health.
  • The management of scoliosis in the Down syndrome population involves a multidisciplinary approach, addressing the physical, cognitive, and medical needs of the individual.
Identical Twins Scoliosis Success Story

Rett Syndrome

Rett syndrome is a rare genetic disorder that primarily affects females. It is characterized by severe cognitive and physical impairments, including the loss of purposeful hand skills, speech, and motor control. Rett syndrome is also associated with the onset of early onset scoliosis, which can cause spinal deformities.

  • Rett syndrome is linked to early onset scoliosis, a form of syndromic curvature that appears before the age of 5.
  • Surgical correction of scoliosis in individuals with Rett syndrome requires close monitoring due to the unique challenges presented by the syndrome.
  • The surgical management of scoliosis in the Rett syndrome population demands specialized expertise.
  • Individuals with Rett syndrome often require surgical intervention for the correction of spinal deformities caused by the scoliosis.
  • Progressive curvatures in individuals with Rett syndrome may lead to significant complications during scoliosis treatment.

Neurofibromatosis

Neurofibromatosis is a genetic disorder that causes the development of tumors (neurofibromas) in the nervous system. It can affect the spine, leading to the development of spinal deformities.

  • Neurofibromatosis contributes to the development of spinal deformities, which require surgical intervention for correction.
  • Surgical treatment of scoliosis in the neurofibromatosis population requires a comprehensive approach, considering the complexities of the medical condition.
  • The severity of the curvature in individuals with neurofibromatosis can vary depending on the specific medical condition.
  • Neurofibromatosis-related scoliosis poses unique challenges in the correction of spinal deformities.
  • Individuals with neurofibromatosis may experience significant surgical complications during treatment, necessitating specialized care and management.
Neurofibromatosis

Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) encompasses a group of genetic connective tissue disorders that affect the body’s ability to produce collagen, a protein that provides strength and support to the connective tissues. The various types of EDS can lead to joint hypermobility, skin fragility, and other complications, including spinal deformities.

  • Ehlers-Danlos syndrome predisposes individuals to spinal deformities, which often require surgical intervention for correction.
  • The surgical correction of curvatures in individuals with Ehlers-Danlos syndrome demands expertise in addressing the complexities of connective tissue disorders.
  • The severity of spinal curvature in individuals with Ehlers-Danlos syndrome can vary depending on the specific connective tissue abnormalities present.
  • Surgical repair of syndromic spine curves in patients with Ehlers-Danlos syndrome requires specialized care and management.
  • Ehlers-Danlos syndrome-associated scoliosis may present challenges in the correction of spinal deformities, requiring a tailored approach.

Osteogenesis Imperfecta

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a genetic disorder characterized by bones that break easily, often with little or no apparent cause. Along with the inherent bone fragility, individuals with OI may also develop spinal curves, impacting the spine’s alignment and curvature.

  • Osteogenesis imperfecta contributes to the development of severe spinal deformities, including curvature of the spine.
  • The surgical management in the osteogenesis imperfecta population requires careful consideration of the tissue disorders associated with the syndrome.
  • The severity of the curvature in individuals with Osteogenesis Imperfecta can vary depending on the specific connective tissue abnormalities present.
  • Osteogenesis imperfecta-related cases demands a tailored approach for spinal deformity correction, considering the medical comorbidities associated with the syndrome.
  • Surgical intervention for individuals with Osteogenesis Imperfecta involves addressing the unique challenges posed by the syndrome, including the fragility of the bones.
Osteogenesis-Imperfecta

Prader-Willi Syndrome

Prader-Willi syndrome is a complex genetic disorder that affects many parts of the body, resulting in physical, cognitive, and behavioral abnormalities. Individuals with Prader-Willi syndrome may also develop a curvature, which can impact their spinal alignment and overall well-being.

  • Prader-Willi syndrome is characterized by insatiable hunger, reduced muscle tone, developmental delays, and other medical complications.
  • Individuals with Prader-Willi syndrome may experience a bending spine, making early diagnosis and intervention essential.
  • The syndrome requires a multidisciplinary approach to address its complex medical needs, including case management.
  • The impact on patients with Prader-Willi syndrome may be influenced by other medical conditions, such as muscular dystrophy and obesity.
  • Managing the condition in individuals with Prader-Willi syndrome involves a comprehensive treatment plan that addresses the specific challenges posed by the syndrome and the associated medical conditions.

Friedreich’s Ataxia

Friedreich’s ataxia is a rare genetic disorder that affects the nervous system and the heart. It is characterized by progressive muscle weakness, loss of coordination, and a curved spine, among other symptoms.

  • Friedreich’s ataxia is an inherited neuromuscular condition that can affect the spine, leading to curvature of the spine.
  • Early detection of spinal curves in individuals with Friedreich’s ataxia is crucial to prevent the progression of spinal deformities.
  • The management of patients with Friedreich’s ataxia requires a multidisciplinary approach, considering the impact of the syndrome on various bodily systems.
  • Friedreich’s ataxia presents specific challenges in the treatment of the curvature, necessitating specialized care and management.
  • Surgery for curve correction in individuals with Friedreich’s ataxia may be complicated by the presence of the neuromuscular condition, requiring careful consideration and expertise.

Diagnosing Syndromic Scoliosis

Diagnosing these cases involves a combination of clinical examination and imaging techniques. A detailed physical examination is crucial for assessing the severity and progression of the spinal curve, which includes evaluating the spinal curvature, flexibility, and any associated neurological symptoms. In addition, advanced imaging techniques, such as X-rays and MRIs, provide detailed insights into the spinal deformities, allowing for accurate diagnosis and treatment planning.

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Clinical Examination

A thorough clinical examination is essential for the diagnosis of syndromic spine curves. During the examination, a healthcare provider, such as a pediatrician, will carefully evaluate the spine’s curvature, flexibility, and any associated neurological symptoms.

  • A detailed physical examination allows for a comprehensive assessment of the severity and progression of the spinal curve.
  • An experienced healthcare provider can determine the appropriate treatment approach based on the physical examination findings.
  • Close monitoring of the spine’s progression through regular clinical examinations is essential for timely intervention and treatment planning.
  • The physical examination also helps in understanding the impact of syndromic conditions on the child’s spine, aiding in tailored treatment planning.
  • Identifying any early onset cases or significant complications profile is vital for making informed treatment decisions.

Imaging Techniques

In addition to the physical examination, advanced imaging techniques play an important step in the diagnosis and management of these cases. These techniques, such as X-rays and MRIs, allow healthcare professionals to obtain detailed images of the spine, enabling accurate measurement of the curvature, assessment of the degree of deformity, and evaluation of the impact of the syndrome on the spinal structures.

  • Advanced imaging techniques, such as X-rays and MRIs, provide detailed insights into spinal deformities and the severity of the curvature.
  • The Cobb angle, a standard measurement used in the diagnosis, can be determined through spinal imaging.
  • Comprehensive spinal imaging is essential for surgical planning and the correction of spinal deformities in syndromic cases.
  • The early detection of spinal deformities through imaging facilitates timely intervention and treatment, preventing further progression of the curve.
  • Accurate imaging techniques aid healthcare professionals in understanding the unique characteristics and challenges of syndromic scoliosis, enabling tailored treatment plans.
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Treating Syndromic Scoliosis

The treatment of syndromic cases requires a comprehensive and multidisciplinary approach. Non-surgical treatments, such as bracing and casting, are often used to manage the progression of the curve, while surgical intervention, such as spinal fusion, may be necessary for more severe deformities. The treatment approach depends on the severity of the curve, the underlying medical condition, and the individual needs of the patient. To further enhance the treatment options, healthcare professionals often refer to resources like Google Scholar to stay updated with the latest research and findings in the field of syndromic conditions.

Non-Surgical Treatments

Non-surgical treatments are often the first line of management for syndromic curvatures, particularly in cases of mild to moderate curvature. These treatments aim to slow down or halt the progression of the curve, alleviate pain and discomfort, and improve the patient’s quality of life.

  • Back Bracing is a common non-surgical treatment for syndromic curves, involving the use of specialized braces to support the spine and prevent the progression of the curve.
  • Casting, the application of a rigid cast, is sometimes used in children with syndromic conditions to guide the growth of the spine and improve the alignment.
  • Nonoperative treatment may involve physical therapy, exercises, and other conservative measures to improve spinal flexibility, muscle strength, and overall function.
  • The choice of non-surgical treatment depends on the severity of the curve, the age of the patient, the progression of the spinal deformity, and the underlying medical condition.
  • Non-surgical interventions play an important role in the management of syndromic patients, helping to optimize spinal health, control symptoms, and improve the patient’s quality of life.
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Surgical Treatments

In more severe cases of syndromic cases, surgical intervention may be necessary to correct the spinal deformity and prevent further progression of the curve. Surgery aims to realign the spine, stabilize the affected segments, and restore the balance of the spine. The specific surgical approach depends on the severity of the curve, the flexibility of the spine, the underlying medical condition, and the individual needs of the patient.

  • Surgical treatment options for syndromic patients may include spinal fusion, which involves the fusion of vertebrae to correct the curvature and stabilize the spine.
  • Surgical management of syndromic cases requires expertise in addressing the complexities of the syndrome, as well as the deformity correction.
  • The surgical correction of syndromic curvatures aims to improve the patient’s overall quality of life, including their mobility, function, and comfort.
  • Careful surgical planning is necessary to address the specific challenges associated with the syndrome, such as the fragility of the bones and the potential for complications.
  • Surgical intervention for syndromic cases is a significant step in the treatment process, addressing the deformities and complications resulting from the curvature of the spine.

Risks and Complications of Surgery

Like any surgical procedure, the correction of syndromic curvatures carries certain risks and potential complications. It’s important for patients and families to be aware of these risks and for the surgical team to take appropriate measures to mitigate them.

Short Term Complications

Short-term complications of surgery refer to complications that occur during the perioperative period, from the time of surgery to the immediate recovery phase.

  • Perioperative complications, such as anesthesia-related issues, can occur during scoliosis surgery.
  • The severity of the curve and the presence of other medical comorbidities can influence the short-term complications profile of spinal fusion surgery.
  • Detailed perioperative assessments, including thorough medical evaluations, are essential to minimize the risks and complications of fusion surgery.
  • The management of spine surgery involves addressing the significant complication profile associated with the syndrome, the severity of the curve, and the individual medical needs of the patient.
  • Comprehensive perioperative care, including strict monitoring and specialized interventions, is vital for the successful surgical correction of syndromic curvatures.
spinal fusion surgery

Long Term Complications

Long-term complications of scoliosis surgery refer to complications that can occur months or even years after the surgical intervention. These complications may arise due to various factors, including the progression of the spinal curve, ongoing medical conditions, implant-related issues, or surgical complications.

  • Severe spinal curvatures can lead to long-term complications, such as respiratory problems or reduced quality of life.
  • Ongoing medical conditions associated with the syndrome can impact the long-term prognosis of syndromic cases.
  • The presence of the spinal deformity can cause physical limitations and affect the overall well-being of the individual.
  • Syndromic conditions may increase the risk of spinal cord injury, which can lead to significant medical comorbidities and complications.
  • Long-term complications associated with syndromic cases require ongoing management, surveillance, and intervention, in order to optimize the patient’s health and well-being.

Living with Syndromic Scoliosis

Living with syndromic problems can present unique challenges and require ongoing medical management. It is important for patients to receive comprehensive care that not only addresses the spinal deformity but also the associated medical conditions.

Managing Pain and Discomfort

Effective management of pain and discomfort is crucial for individuals living with syndromic curvatures of the spine. Chronic pain can significantly impact the quality of life, physical function, and emotional well-being of patients.

  • Strategies for managing pain and discomfort in syndromic curves may include physical therapy, medications, and the use of assistive devices.
  • Psychological support and counseling can also play a vital role in the management of pain and the overall well-being of patients.
  • Managing pain and discomfort in syndromic conditions can improve the individual’s daily functioning, reduce reliance on medications, and enhance their quality of life.
  • Comfort measures, such as specialized pillows or cushions, can provide relief from pain and discomfort, aiding in the management of the spinal curvature.
  • A multidisciplinary approach, involving healthcare professionals from various specialties, can help patients manage their pain effectively and improve their overall comfort and well-being.
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What is the Impact of Syndromic Scoliosis on Life Expectancy?

The impact of condition caused spine curves on life expectancy can vary depending on several factors, including the severity of the curve, the presence of other medical conditions, and the overall health of the individual.

  • It is often associated with medical comorbidities, which can impact the overall health and life expectancy of the individual.
  • Prospective studies have shown that individuals with syndromic scoliosis may have a reduced life expectancy compared to the general population.
  • The specific medical conditions associated with these cases, such as neuromuscular disorders or connective tissue disorders, can contribute to the impact on life expectancy.
  • However, it is important to note that the impact of syndromic curvatures on life expectancy varies based on individual medical profiles, and not all individuals with syndromic problems will have a shortened life expectancy.
  • When assessing the impact of syndromic curves on life expectancy, healthcare professionals take into account the overall health of the individual, the severity of the curve, the presence of other medical complications, and the management of the associated medical conditions.

Conclusion

In conclusion, understanding the factors causing condition caused curvatures is crucial for effective treatment and management. These cases often associated with underlying conditions such as Marfan syndrome, Down syndrome, Rett syndrome, neurofibromatosis, Ehlers-Danlos syndrome, Osteogenesis imperfecta, Prader-Willi syndrome, and Friedreich’s ataxia. Diagnosing these cases requires a thorough clinical examination and the use of imaging techniques. Treatment options include non-surgical and surgical approaches, each with their own risks and complications. Living with these conditions may involve managing pain and discomfort, but it’s essential to maintain a positive mindset and seek support from healthcare professionals and loved ones. While it can impact life expectancy, early diagnosis and appropriate treatment can greatly improve quality of life.