Congenital Spine Deformities: Difference between revisions

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<div class="noeditbox">Welcome to [[Vrije Universiteit Brussel Evidence-based Practice Project|Vrije Universiteit Brussel's Evidence-based Practice project]]. This space was created by and for the students in the Rehabilitation Sciences and Physiotherapy program of the Vrije Universiteit Brussel, Brussels, Belgium. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!</div> <div class="editorbox">
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'''Original Editors ''' - [[User:Gertjan Peeters|Gertjan Peeters]]
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== Introduction ==
[[File:Adolescent idiopathic scoliosis (Paria et al., 2015).jpg|right|frameless]]
[[Congenital and Acquired Neuromuscular and Genetic Disorders|Congenital]] spine deformities are disorders of the spine that develop in an individual prior to birth. The vertebrae do not form correctly in early fetal development and in turn cause structural problems within the spine and spinal cord. These deformities can range from mild to severe and may cause other problems if left untreated, such as developmental problems with the [[Anatomy of the Human Heart|heart]], [[Kidney|kidneys]] and urinary tract, problems with breathing or walking, and [[paraplegia]] (paralysis of the lower body and legs).


'''Top Contributors''' - {{Special:Contributors/{{FULLPAGENAME}}}}  &nbsp; 
Medical researchers are still unsure of what actually causes the defects responsible for congenital spine deformities. In these disorders, the vertebrae are often missing, fused together and/or misshapen or partially formed.<ref name=":0">Khavkinckinic Congenital spinal deformities Available:https://khavkinclinic.com/congential-spine-deformities/ (accessed 10.10.2021)</ref>
</div>  
== Search Strategy  ==


Databases: Pubmed, Pedro,&nbsp;WebOfScience, emedicine , VUBmedical library, ScienceDirect, Google scholar
== Etiology ==
The causes of congenital vertebral anomalies are likely to be


<br>Keywords: Congenital spine deformities, spinal anatomy, congenital abnormalities of the spine, scoliosis, spina bifida, spinal dysraphims, imaging of the spine, milwaukee brace, neural tube defect, physical examination spine, detection spine deformities<br><br>
*[[Genetic Conditions and Inheritance|Genetic]] factors, e.g. defects in the Notch signalling pathways. (Notch 1 gene has been shown to coordinate the process of somitogenesis by regulating the development of vertebral precursors in mice), Chromosome 13 and 17 translocations (associated with the development of hemivertebrae). Genetic theories are supported by molecular, animal, and twin population studies.
* Environmental factors have also been suggested, and these include exposure to toxins including carbon monoxide, the use of antiepileptic medication, and maternal [[diabetes]].<ref name=":20">Musculoskeletalkey 6 Congenital Deformities of the Spine Available: https://musculoskeletalkey.com/6-congenital-deformities-of-the-spine/ (accessed 10.10.2021)</ref>


== Definition/Description<ref name="1">Kaplan K.M., Spivak J.M., Bendo J.A. Embryology of the spine and associated congenital abnormalities. Spine J. 2005 Sep-Oct;5(5):564-76.  Score: A1</ref><ref name="2">Chan G., Dormans J.P. Update on congenital spinal deformities: preoperative evaluation. Spine (Phila Pa 1976). 2009 Aug 1;34(17):1766-74.  Score: A1</ref><ref name="3">Marks D.S., Qaimkhani S.A. The natural history of congenital scoliosis and kyphosis. Spine (Phila Pa 1976). 2009 Aug 1;34(17):1751-5.  Score: A1</ref>  ==
== Types ==
[[Image:Defectsofformation.jpg|699x699px|alt=|right|frameless]]The spectrum of congenital deformities of the spine includes a range of conditions that blend gradually from [[scoliosis]] through kyphoscoliosis to pure [[kyphosis]]. These deformities occur when an asymmetric failure of development of one or more vertebrae results in a localized imbalance in the longitudinal growth of the spine and an increasing curvature affecting the [[Cardinal Planes and Axes of Movement|coronal and/or sagittal plane]], with a risk for progression during skeletal growth.  


Congenital deformities of the spine are spinal deformities identified at birth that are the result of anomalous vertebral development in the embryo. Minor bony malformations of all types occur in up to 12% of the general population and are usually not apparent. [1 [LOE:2C]] The spine is a complex and vital structure. Anatomically, a variety of tissue types are represented in the spine, including musculoskeletal and neural elements. Several embryologic steps must occur to result in the proper formation of both the musculoskeletal and neural elements of the spine. Alterations in these embryologic steps can result in congenital abnormalities of the spine. [31 [LOE:1A]] Based on the type of malformation, the resulting deformity and the specific region of the spine where the malformation occurs, these congenital malformations of the spine can be classified into three main groups [31 [LOE:1A]]:<br>
The consequence of unbalanced growth of the spine can be the:
# Development of a benign curve with slow or no progression, in which case observation may be the only treatment required.
# Types of vertebral abnormalities that produce considerable asymmetry in spinal growth and the development of very aggressive deformities with consequent functional, cosmetic, respiratory, and neurological complications. Understanding the anatomical features of the individual vertebral anomalies and their relation to the remainder of the spine makes it possible to predict those abnormalities that are likely to produce a severe curve. Recognizing the natural history of the deformity at an early stage can in turn allow appropriate surgical treatment, with the aim of preventing the development of severe spinal curvature and trunk decompensation.<ref name=":20" />
Examples of a congenital spinal deformities include:
* Congenital [[Thoracic Hyperkyphosis]]
* Congenital [[Scoliosis]]


<br>1) When the neural tube fails to completely close during the embryonic development, we speak about a [[Neural tube defect|neural tube defect]]/deformities. [31 [LOE:1A]] The most common example is [[Spina bifida|spina bifida]]. The term “spina bifida” merely refers to a defective fusion of posterior spinal bony elements, but is still incorrectly used to refer to spinal dysraphism in general, quoted in the book of BOOS N. and AEBI M. [7 [GOR: B + C]] So we can conclude that spina bifida aperta is certainly an open spinal dysraphism. This type of spina bifida is associated with meningocele or meningomyelocele [31[LOE:1A]] , but there are also other kinds of spinal dysraphisms, like the closed spinal dysraphisms for example Spina Bifida Occulta. [54 [LOE: 4]]<br>
*[[Klippel-Feil syndrome]] <ref>Klemme WR et al. (2001). Hemivertebral excision for congenital scoliosis in very young children. J Pediatr Orthop. 21 (6), pp761-764.</ref>
== Characteristics/Clinical Presentation ==
[[File:Scoliosis cobb.gif|right|frameless|228x228px]]
Congenital abnormalities of the spine have a range of clinical presentations. Some congenital abnormalities may be benign, causing no spinal deformity and may remain undetected throughout a lifetime.  


<br>2) When two or more vertebrae fail to fully separate and divide with concomitant partial or complete loss of a growth plate, we speak about a [[Failure of segmentation|failure of segmentation]]. Examples of this type of congenital spine deformity are congenital [[Scoliosis|scoliosis]], [[Congenital kyphosis|congenital kyphosis]], [[Congenital lordosis|congenital lordosis]] and [[Klippel-Feil syndrome|Klippel-Feil syndrome]]. [31[LOE:1A]]<br>
Some deformities will result in sagittal plane abnormalities, for e.g. kyphosis or lordosis, whereas others will primarily affect the coronal plane e.g. scoliosis. The resultant spinal deformity is often a complex, three-dimensional structure with differences in both the coronal and sagittal plane, along with a rotational component along the axis of the spine.<ref>Kawakami N, et al. (2009). [https://scholar.google.com/scholar_url?url=https://journals.lww.com/spinejournal/Fulltext/2009/08010/Classification_of_Congenital_Scoliosis_and.00005.aspx&hl=en&sa=T&oi=gsb&ct=res&cd=0&d=17108192740910527630&ei=MHEGYunMNryO6rQP-PmgiAk&scisig=AAGBfm2jeliVEpx0mxH3vyFgvxszCJ7kAQ Classification of congenital scoliosis and kyphosis]: a new approach to the three-dimensional classification for progressive vertebral anomalies requiring operative treatment, Spine (Phila Pa 1976), 34 (17), pp1756-65</ref>


<br>3) However, congenital [[Scoliosis|scoliosis]] and [[Congenital kyphosis|congenital kyphosis]], and congenital lordosis can also be examples of a [[Failure of formation|failure of formation]]. This type of congenital spine deformity occurs as a result of an absence of a structural element of a vertebra. Typical observable defects are hemivertebrae or wedge vertebrae. [31[LOE:1A]] [24 [LOE:3B]]
== Symptoms of Congenital Spine Deformities ==
Doctors often detect any spine deformity at birth if there is any abnormal curvature in the back. However, some spine deformities until later in childhood and/or adolescence when symptoms worsen. Physical signs of congenital spine deformities typically include:


* Tilted pelvis
* Difficulty walking
* Difficulty breathing
* Abnormal curvature or twisting in the back, left or right, forward or backward
* Uneven shoulders, hips, waist or legs


== Respiratory Implications ==
Abnormal development of the spine can cause significant scoliosis, kyphosis, or lordosis, resulting in body deformities that can be distressing to patients and their families. The more serious threat to long-term health is the adverse effect of abnormal development of the spine on [[Pulmonary Function Test|pulmonary function]].


Congenital abnormalities of the spine have a range of clinical presentations. Some congenital abnormalities may be benign, causing no spinal deformity and may remain undetected throughout a lifetime. Others may be associated with severe, progressive spinal deformity leading to cor pulmonale or even paraplegia. Some deformities will result in sagittal plane abnormalities, for example kyphosis or lordosis, whereas others will primarily affect the coronal plane, like Scoliosis. The resultant spinal deformity is often a complex, three-dimensional structure with differences in both the coronal and sagittal plane, along with a rotational component along the axis of the spine.[34 [LOE:3A]]<br>
* This is well documented for curves exceeding 90 degrees, which cause severe restrictive lung disease, but not well understood for lesser curves. Pulmonary function is an important determinant of long-term survival.
* Increased rates of mortality, mostly resulting from pulmonary failure, have been seen in patients with untreated infantile scoliosis beginning at the age of 20 years, with a rise in mortality rates to fourfold above normal by the age of 60 years<ref>Musculokeletalkey  Respiratory Implications of Abnormal Development of the Spine Available:https://musculoskeletalkey.com/4-respiratory-implications-of-abnormal-development-of-the-spine/ (accessed 10.10.2021)</ref>


<br>
== Diagnostic Procedures ==
There are several different procedures that can be used to carry out the imaging of the spine. <ref name=":9">SORANTIN E. et al., 2008 “[https://scholar.google.com/scholar_url?url=https://www.sciencedirect.com/science/article/pii/S0720048X08004014&hl=en&sa=T&oi=gsb&ct=res&cd=0&d=12593037565671745085&ei=X3EGYoHAHYz2yATZiLfgDQ&scisig=AAGBfm3bup_DMRDb2Rc9kUtl5i7oAnXiSw MRI of the Neonatal and Paediatric Spine and Spinal Canal]“, European Journal of Radiology, vol. 68, nr. 2, p. 227 – 234</ref>


== Clinically Relevant Anatomy  ==
*[[X-Rays]] are useful for showing structural deformities such as hemivertebrae, butterfly vertebra, or incomplete fusion of posterior elements. X-ray is used if no imaging of the spinal cord is required. For scoliosis, erect posterior-anterior frontal and/or lateral views (with breast shielding) are usually obtained. <ref name=":10">Patrick D Barnes. (2009). Pediatric radiology : chapter 9, spine imaging. (3). Mosby</ref>
*[[MRI_Scans|MRI]] is most frequently used for imaging of the spine in adults as the spinal canal and its content can be analysed.
*[[CT Scans]] continue to be the preferred method for the assessment of localised bony abnormalities, or a calcified component, of the spinal canal, foramina, neural arches, and articular structures. <ref name=":10" />


Neural tube deformities<br>Neural tube deformity is a term for congenital anomalies because of incomplete closure of the neural tube in the utero. [5[LOE:2C]] [59 [LOE:2A]] This causes impaired formation of structures along the craniospinal axis. [55 [LOE:2C]] Spinal neural tube defects can be subdivided into those that are open versus those that are closed:<br>● Open: the failure is primary neuralation. [4 [LOE:2A]] [44 [LOE:5]]<br>● Closed: the structural deformities are mostly limited to the spinal cord. [44 [LOE:5]]<br>
== Treatment ==
[[File:Thor 4.png|right|frameless]]
In most cases, nonoperative treatment options are recommended before surgery is considered. Nonoperative treatment options typically include [[Pain Medications|pain medication]], certain braces and physical therapy (that includes [[Gait training|gait]] and [[posture]] training).


However, it is not only the elements of the spine that can be affected. Other body organs that formed during the same embryonic stage can be affected as well. This is because [31 [LOE:1A]] the paraxial mesoderm is responsible for the formation of the vertebrae, whereas the other two areas of mesoderm (intermediate and lateral) are involved in the development of the urogenital, pulmonary and cardiac systems. [4 [LOE:2A]] Several studies referred to in a 2005 review [31 [LOE:1A]]have indicated a higher incidence of congenital heart defects, and many patients may have difficulty with respiration because of abnormal curvatures of the spine.<br>Another 2009 review [42 [LOE:2A]] noted that several authors observed that these associated anomalies have an influence on the progression of untreated congenital [[Scoliosis|Scoliosis]].<br><br>
=== Surgery ===
Surgery Is Considered If:


Failure of segmentation/ formation<br>The bony structure of the spine is determined in the first 6 weeks of intrauterine life, at the mesenchymal stage of embryonic development. Somites form and undergo a process of segmentation and recombination. This is necessary to give rise to the cartilaginous mould that afterwards will ossify to form the bony spine. Errors during this process can lead to either failure of formation, failure of segmentation or a combination of both. [22 [LOE:3A]]<br>Examples of failure of segmentation are:<br>● Congenital kyphosis<br>● Congenital [[Scoliosis|Scoliosis]]<br>Examples of failure of formation are:<br>● [[Klippel-Feil_syndrome|Klippel-Feil syndrome]] [36 [LOE: 2A]]<br>● Congenital kyphosis<br>● Congenital [[Scoliosis|Scoliosis]]<br>The anomaly is present at birth, so a curvature is noted much earlier than patients with idiopathic scoliosis. In addition, because of all the years of growth remaining, large deformities can result. [38 [LOE:2C]]<br><br>
# The spinal deformity is progressing
# The condition has caused unbearable physical deformity
# The patient experiences [[Chronic Pain and the Brain|chronic pain]] that cannot be relieved by nonoperative treatment options
# The condition has caused [[Myelopathy|compression of the nerve roots]] or spinal cord<ref name=":0" />
Spinal instrumentation for congenital spine deformity cases is safe and effective,  <ref>Hedequist D.J. (2009). [https://scholar.google.com/scholar_url?url=https://journals.lww.com/spinejournal/Fulltext/2009/08010/Letters_to_the_Editor.00008.aspx&hl=en&sa=T&oi=gsb&ct=res&cd=0&d=14487695445756530477&ei=r3EGYtmvL4TyyASduqq4Dg&scisig=AAGBfm1gNlnDA_n49gROQP0tUg89Ot8EGw Instrumentation and fusion for congenital spine deformities], Spine (Phila Pa 1976), 1;34 (17), pp1783-90</ref> <ref name=":15">Hedequist D.J. et al. (2004). [https://scholar.google.com/scholar_url?url=https://journals.lww.com/spinejournal/fulltext/2004/09150/The_Safety_and_Efficacy_of_Spinal_Instrumentation.22.aspx&hl=en&sa=T&oi=gsb&ct=res&cd=0&d=6705511578530450649&ei=y3EGYvW6M4K4ygTc_rBI&scisig=AAGBfm1ETJHQCwdKVPXJBKqM9oG-KAJBCQ The safety and efficacy of spinal instrumentation in children with congenital spine deformities], Spine (Phila Pa 1976), 15;29 (18), pp 2081-2086</ref> as is growing rod surgery for selected patients with congenital spinal deformities. <ref name=":16">Elsebai HB et al.,2011  “[https://scholar.google.com/scholar_url?url=https://journals.lww.com/pedorthopaedics/Fulltext/2011/01000/Safety_and_Efficacy_of_Growing_Rod_Technique_for.1.aspx&hl=en&sa=T&oi=gsb&ct=res&cd=0&d=12030621565327864571&ei=7nEGYr2CGceUywTTgoa4Cg&scisig=AAGBfm3UIzLrBxHKjDZ5nelvYadXpHrQAA Safety and Effficacy of Growing Rod Technique for Pediatric Congenital Spinal Deformities]“, J Pediatr Orthop, vol 31, nr 1, pp 1-5. Jan-Feb, </ref> <ref name=":17">Yazici M. and Emans J.2009, “[https://scholar.google.com/scholar_url?url=https://journals.lww.com/spinejournal/Fulltext/2009/08010/Spinal_Instrumentation_Without_Fusion_for.00010.aspx&hl=en&sa=T&oi=gsb&ct=res&cd=0&d=9304556392105449818&ei=CXIGYumpHbuP6rQPgrSAyAI&scisig=AAGBfm0jT5yF5Lh-yHMvb4dMJ1a0BtjGpg Fusionless Instrumentation Systems for Congenital Scoliosis: Expandable Spinal Rods and Vertical Expandable Prosthetic Titanium Rib in the Management of Congenital Spine Deformities in the Growing Child]“, Spine, Vol 34, Nr 17, pp 1800-1807</ref> The size and weight of the patient determines the size of the spinal implants, whereas the surgical fixation anchors are determined by the anatomy of the patient and the anomalies present. <ref name=":15" /> The complications associated with the use of this spinal instrumentation are infrequent and the curve correction, length of immobilisation and fusion rate is improved.<ref name=":15" />


<br>
# '''Growing Rod Surgery:''' Growing rod surgery is one of the options for the correction of scoliosis, a modern alternative treatment for young children with early onset scoliosis. The incidence of complication remained relatively low <ref name=":16" /> <ref name=":17" /> and is also recommended for patients where the primary problem is at the vertebral column.
# '''Expansion Thoracostomy and VEPT:''' For severe congenital spine deformations, when a large amount of growth remains, expansion thoracostomy and VEPTR (a curved metal rod designed for many uses), are the most appropriate choice. Used when the primary problems involve the thoracic cage, eg when there are rib fusions and/or with developing Thoracic Insufficient Syndrome, <ref name=":17" /> but the incidence of complications using VEPTR is, however, relatively high.<ref name=":18">Moramarco M and Weiss HR. (2015). [https://scholar.google.com/scholar_url?url=https://europepmc.org/article/med/26573161&hl=en&sa=T&oi=gsb&ct=res&cd=1&d=12345306911325150121&ei=L3IGYu_GN7eN6rQP8ZCWsAI&scisig=AAGBfm2KlJYAcSu0w_3HZ4P92EdVGI_XwA Congenital Scoliosis], Curr Pediatr 2015 Nov 17</ref>
# '''Resection and Fusion:''' For treating congenital scoliosis caused by hemivertebra posterior hemivertebra, resection and monosegmental fusion appears to be effective. This treatment results in an excellent correction in both the frontal and sagittal planes. <ref>Zhu X. et al. 2014, “[https://scholar.google.com/scholar_url?url=https://publishing.rcseng.ac.uk/doi/abs/10.1308/003588414X13824511650173&hl=en&sa=T&oi=gsb&ct=res&cd=0&d=18087741045513419297&ei=WXIGYqmhAYz2yATZiLfgDQ&scisig=AAGBfm21gVoosoDPguDLvFikQ4Kvmop9TA Posterior hemivertebra resection and monosegmental fusion in the treatment of congenital scoliosis.] “, Article from Annals of The Royal College of Surgeons of England, Vol 96, Nr5, pp. 41-44</ref> Early surgery is typically prescribed as a treatment for children with congenital scoliosis, even though there is little evidence for its long term results. <ref name=":18" />


== Epidemiology /Etiology  ==
=== Physical Therapy ===
[[File:Cp child sit balance.jpg|right|frameless]]
The [[International Classification of Functioning, Disability and Health (ICF)|ICF]] has underscored the need for therapists to provide a holistic approach to treatment, focusing not only on [[Therapeutic Exercise|exercises]], [[Stretching|stretches]], and what a child is unable to do, but also on the child’s abilities. The approach to therapy is functional and questions whether a child can actively participate with his or her current level of function.


The etiology of congenital spine deformities varies greatly because there are different sorts of congenital spine deformities. It is difficult to indentify one factor that may be responsable. The prevalence is also different for each of them. [31 [LOE: 1A]]<br>They can be divided into 3 groups:
A physiotherapy assessment is required for children with early onset scoliosis to enable them to function to their fullest potential within society. Assessments provide a baseline for future interventions and establish goals that are appropriate and achievable for the child and the family within their environment.


<br>1) '''''Neural tube deformities''''' such as spina bifida. Spina bifida is not a very common disease. Scientist believe that spina bifida is caused during pregnancy due to a defiency of vitamin B. Spina bifida is also dependant on genetic and enviromental factors. Obese women with poorly controlled diabetes have a greater risk of having children with spina bifida. In America less than 1 in 1000 children are born with it each year. Having a child with spina bifida increases the chance that another child will also have spina bifida by 8 times [67 [LOE:5]] [23 [LOE:2A]] [9 [LOE:3A]] [39 [LOE:5]]
* Many factors are involved the assessment including the pathology of the child’s condition, family input and expectations, the child’s environment, the equipment needs, and the ability to access services.  
* This assessment is necessary to establish what is required for each individual.


<br>2) Congenital spine deformities due to '''''failure of segmentation'''''. In this case, the vertebrae are fused together and cause congenital kyphosis, congenital lordosis, and [[Scoliosis|Scoliosis]]. [45 [LOE2B]]<br>Congenital [[Scoliosis|Scoliosis ]]is not the most common type of scoliosis as it only amounts to 15% of the total amount of scoliosis [19 [LOE:5]]. With 64% of the total amount of scoliosis, thoracic scoliosis is the most common congenital scoliosis. This is followed by thoracicolumabar scoliosis with 20% of the total amount of scoliosis, 11% of which are located in the lumbar region, and 5% in the lumbosacral region.[31 [LOE:1A]] According to Moore, the failure of segmentation? is due to the embryological absence of one or more of the primary chondrification centers [31: [LOE1A]]<br>[[Klippel-Feil_syndrome|Klippel-Feil syndrome]] is also due to a failure of segmentation. There is not much known about the prevalence of this syndrome, but according to Brown et al who reviewed 1400 skeletons from the Terry collection the prevalence was estimated at 0,71%. Another study from Gjorup reviewed all of the radiographic cervical spine films from a single hospital in Copenhagen. From these films, they determined an incidence of 0.2 cases per 1000 people. [61 [LOE:5]]
An initial assessment may consist of observation of the child at play. This is most appropriately undertaken within the home environment, where the child will be most at ease and will play with his or her own toys. However, this may not always be possible. Play provides many benefits for both child and therapist.


<br>3) Congenital spine deformities due to '''''failure of formation''''' are rare. The prevalence of hemivertebrae is 0.33 out of 1000 births and there is an equal number of women and men affected. A 2005 study showed that 23 out of the 26 children with hemivertebrae developed a congenital spine deformity like scoliosis, congenital lordosis or congenital kyfosis. [24 [LOE:3B]]
Play is the most likely way in which rapport will be established between the child and the therapist, but it also provides the opportunity to observe a variety of factors when eg In what position does the child play when lying, sitting and/or standing; Does the child move from one position to another?; How does the child move?; What motivates the child in his or her play?; What kind of toys does the child choose?


<br>A 2009 review concludes that environmental factors, genetic factors, vitamin deficiency, chemicals, and drugs, singly or in combination, have all been implicated in the development of congenital abnormalities during the embryonic period. Whatever the factor is that influences the embyo it must affect the embryo at a very early stage of development, before cartilage bone can develop. These defects can lead to a failure of segmentation or a failure of formation of the spine. [30 [LOE:2A]]<br>In another review of 2005, the studies carried out confirmed various possible causes that may help in the prevention of these anomalies. the studies showed that during critical stages of development, fetal exposure to thalidomide can lead to severe congenital malformations. A case report of Ghidini et al. suggests that mothers taking lovastatin have an increased risk for congenital abnormalities. In the same review Nora et al. conclude that certain progestin/estrogen compounds may increase the incidence of these anomalies. [31 [LOE:1A]] <br><br>
It is important within the role of physiotherapist to consider the following:


== Characteristics/Clinical Presentation  ==
* The child’s abilities, needs, hobbies;
* Needs of the family members and what is important to them;
* Role of the child within the family, especially if the child has siblings;
* The environments inside and outside the home to which the child has access and the child’s level of activity and participation.<ref>Musculoskeletal Key [https://musculoskeletalkey.com/25-physiotherapy/ 25 Physiotherapy] Available:https://musculoskeletalkey.com/25-physiotherapy/ (accessed 10.10.2021)</ref>


The 2005 review<ref name="1">Kaplan K.M., Spivak J.M., Bendo J.A. Embryology of the spine and associated congenital abnormalities. Spine J. 2005 Sep-Oct;5(5):564-76.  Score: A1</ref> concludes that a defect early in fetal life may have a variety of clinical presentations. This is because of the fact that several systems develop from a common precursor. Examples of these clinical presentations are scoliosis, hyperlordosis and/or hyperkyphosis. Furthermore, this review also indicates that congenital abnormalities of the spine have the potential to affect the spinal cord and associated nerve roots. The neurological symptoms can vary from minor motor or sensory signs to paraplegia, depending on the type and severity of the congenital spine deformity. A 2007 review<ref name="6">Oskouian R.J. Jr., Sansur C.A., Shaffrey C.I. Congenital abnormalities of the thoracic and lumbar spine. Neurosurg Clin N Am. 2007 Jul;18(3):479-98.  Score: A1</ref> indicates that congenital spine deformities are not always immediately obvious at birth. They can present as a deformity with growth or with clinical signs of neurologic dysfunction during adolescence or adulthood.
'''See physiotherapy sections in these great pages'''


<u>Neural tube deformities</u><br>As described earlier, neural tube deformities can be divided into two groups:<br>● Open: neural elements and/ or membranes are exposed to the external environment<br>○ Myelomeningocele is characterised by<br>■ being most frequently present in the lumbosacral region [51 [LOE:2A]]<br>■ a bulging of a sac-like structure covered by a thin membrane with CSF that will drain if the sac is disrupted [53 [LOE:2A]]<br>○ Myelocele<br>■ Is associated with similar clinical implications as myelomeningocele but is flat [4 [LOE:2A]] [53 [LOE:2A]]<br>○ Hemimyelomeningocele<br>■ is a rare lesion<br>■ where the spinal cord has been divided by a bony spur with one segment open and the other closed [4 [LOE2A]]
[[Scoliosis]]


<br>● Closed: spinal abnormalities covered by skin<br>○ Some go undetected or remain asymptomatic [4 [LOE:2A]] [44 [LOE:5]] but there are variants that can be associated with cord tethering, subcutaneous mass or more severe spine abnormalities [4 [LOE:2A]]<br>○ The lumbosacral region is the most common location of these defects [55 [LOE:2C]]<br>○ An affected child has an intellectual function and other functions are as well less affected [44 [LOE:5]]<br>○ Lipomyelomeningocele and lipomyelocele<br>■ are characterised by subcutaneous fatty mass above the gluteal crease [53 [LOE:2A]]
[[Kyphosis]]


<br><u>Failure of segmentation</u><br>● Congenital scoliosis is charaterised by<br>○ a three-dimensional deformity involving lateral curvature and rotation<br>○ a benign prognosis<br>○ the fact that worst curves occur with unilateral defects<br>○ a curve site dependent on the location of apical vertebra [51 [LOE:2A]]<br>● Congenital kyphosis<br>○ Can progress rapidly and may cause spinal cord compression and paralysis [23 [LOE:3A]]
[[Scheuermann's Kyphosis]]


<br><u>Failure of formation</u><br>● Congenital scoliosis<br>○ Poor prognosis [51 [LOE:2A]]<br>● Congenital kyphosis<br>○ Absence and asymmetry of the growth plates [50 [LOE:4]]<br>● [[Klippel-Feil_syndrome|Klippel-feil syndrome]]<br>
[[Adam's forward bend test]]


<br>
== Outcome Measures ==
 
The most commonly used questionnaires with patients who have undergone spinal surgery include
== Differential Diagnosis  ==
*[[Oswestry_Disability_Index|Owestry Disability Index]] <ref name=":11">COPAY A.G. et al.2008  “[https://scholar.google.com/scholar_url?url=https://www.sciencedirect.com/science/article/pii/S1529943007010017&hl=en&sa=T&oi=gsb&ct=res&cd=0&d=15513237013168726639&ei=k3IGYuaYJoz2yATZiLfgDQ&scisig=AAGBfm15vc8DxP7OA_AZ1rurrzL-B567nQ Minimum Clinically important difference in lumbar spine surgery patients]: a choice of methods using the Oswestry Disability Index, Medical Outcomes Study Questionnaire Short Form 36, and Pain Scales“, The Spine Journal, vol. 8, nr. 6, p. 968 – 974, . </ref> <ref name=":12">DEVIN C.J. and McGIRT M.J.2015, “[https://scholar.google.com/scholar_url?url=https://www.sciencedirect.com/science/article/pii/S0967586815000156&hl=en&sa=T&oi=gsb&ct=res&cd=0&d=4773698857369320771&ei=s3IGYui8BYf0yAS3lKWYDA&scisig=AAGBfm0nH_IAyJQjW5wicJDJjpgFNERDbw Best evidence in multimodal pain management in spine surgery and means of assessing postoperative pain and functional outcomes]“, Journal of Clinical Neuroscience, vol. 22, nr. 6, p. 930 – 938. </ref> <ref name=":2">BOOS N. and AEBI M. (2008) Spinal Disorders, Fundamentals of Diagnosis and Treatment, Springer, p. 311, 434, 695-696</ref>
 
*[[Brief_Pain_Inventory_-_Short_Form|Brief Pain Inventory]] <ref name=":12" />
Most of the congenital spine deformities are diagnosed in the uterus, and if not, at birth. That is because these deformities are most of the time clearly present at birth e.g. Spina Bifida, scoliosis etc. However some of the disorders might not become symptomatic until childhood or even adulthood. [54 [LOE:4]]
*[[Roland‐Morris_Disability_Questionnaire|Roland–Morris disability questionnaire]] <ref name=":12" /> <ref name=":2" />
 
<br>In these cases, the physician will carry out an MRI scans or use ultrasound to diagnose the specific disorder. [54 [LOE:4]] [57 [LOE: 4]] So for many congenital spine deformities there is not a differential diagnosis because the deformity/anomaly will be clear in the MRI scan. This is also the case because newborns cannot express which symptoms he experiences (like pain, or numbness).
 
<br><u>Neural tube deformities</u><br>[[Spina_Bifida_Occulta|Spina bifida]] is an out-dated term for spinal dysraphism. This ‘modern term’ includes many congenital anomalies where the neural tube is defective, which leads to hernia’s of the meninges or other neural tissues. [62 [LOE:4]]<br>● open: with a non-skin covered back mass, where you have to differentiate between myeolecele and myelomeningocele.<br>● closed: with a skin-covered back mass, where you have to determine whether there is a subcutanuous mass present or not. [7 [GOR: B+C]] [54 [LOE:4]]
 
<br><u>Failure of segmentation</u><br>Congenital scoliosis<br>In most of the severe cases, scoliosis can be detected without medical imaging. There are different forms that can be present as a result of failure of segmentation:<br>● A block vertebra, which is a bilateral failure with complete fusion of the disc between the involved vertebrae.<br>● A unilateral unsegmented bar has fused discs and facet joints on one side of the vertebral column. [7 [GOR: B+C]] [10 [LOE: 4]]
 
<br>Congenital kyphosis<br>● idiopathic hyperkyphosis<br>● neuromuscular<br>● spinal cord tumor<br>● connective tissue disorders<br>● skeletal dysplasia<br>● infection (tuberculosis, pyogenic, fungal)<br>● tumor<br>● myelomeningocele<br>[7 [GOR:B+C]] [3 [GOR: C]]
 
<br>Congenital spinal canal stenosis<br>The sagittal diameter must be &lt;13 mm to speak of a congenital spinal canal stenosis. This disorder itself is not the cause of particular symptoms. It is the Spinal Canal Compression Syndrome that triggers the neural structures in the spinal canal, and because of the congenital narrowed spinal canal, these patients face a greater risk of developping the syndrome. Depending on the disease, there are differential diagnoses for the Spinal Canal Compression Syndrome at each level of the spine.<br>● Cervical: MS, Myelitis, B12 hypovitaminosis, spinal tumors, polyneuropathy (PNP), ateriovenous malformations.<br>● Thoracal: disc herniation (often calcified), OPLL, arteriovenous malformations, spinal tumors.<br>● Lumbar: vascular claudication, spinal metastasis, polyneuropathy. [7 [GOR:B+C]]
 
 
 
<u>Failure of formation</u><br>Congenital scoliosis<br>As mentioned above there are different types of scoliosis. The following ones concern a failure of formation:<br>● A Hemivertebra, which is a complete unilateral failure of the vertebral formation that can be:<br>○ Fully segmented<br>○ Partially segmented<br>○ Non-segmented<br>A hemivertebra can be further described as incarnated or non-incarnated.<br>● A wedge vertebra is a partial unilateral failure. [7 [GOR: B+C]] [15 [LOE:4]]
 
<br>Congenital kyphosis<br>● idem failure of segmentation
 
<br>[[Klippel-Feil_syndrome|Klippel-Feil syndrome]]<br>● [[Congenital_torticollis|Congenital muscular torticollis]] [26 [LOE:3B]]<br>● Wildervanck syndrome<br>● MURCS association<br>● Turner or Noonan syndrome<br>● Morquio syndrome<br>● Tuberculosis of the cervical spine<br>● Nevoid basal cell nevus syndrome<br>● Crouzon syndrome<br>● Apert syndrome<br>● Binder syndrome<br>● Oculo-auriculo-vertebral spectrum [47 [LOE3B]]
 
<br>Osteopetrosis<br>● Leukemia [60 [LOE: 4]]<br>● Dysosteosclerosis [63 [LOE:4]]<br><br>
 
== Diagnostic Procedures  ==
 
There are several different procedures that can be used to carry out the imaging of the spine. The choice of imaging depends on what you want to analyse. For example bone analyses require other imaging techniques compared to those needed to analyse the spinal canal. <br>In children, it is important to start with the less invasive procedure because of their cartilage and non-ossified bones. So imaging in children is done with ultrasound. [57 [LOE:4]]<br>In adults, different types of imaging can be used depending on what needs to be analysed.
 
<br>● [[X-Rays|X-Rays]] is used to show structural deformities such as hemivertebrae, butterfly vertebra, or incomplete fusion of posterior elements. X-ray is used if imaging of bones is needed and no imaging of the spinal cord is required. [2 [LOE:5]]For scoliosis, erect posterior-anterior frontal and/or lateral views (with breast shielding) are usually obtained. [49 [LOE:5]]
 
<br>● [[MRI_Scans|MRI]] is most frequently used for imaging of the spine in adults. With MRIs the spinal canal and its content can be analysed. MRI uses energy from strong magnets to create pictures. MRI images are different for every sort of congenital spine deformity.<br>According to S. Basu et al., MRI and echocardiography should be an essential part in the evaluation of patients with congenital spinal deformity. [6 [LOE:4]]<br>To prove the degree of confidence of MRI, different studies have been done. A study of Brophy et al. performed MRI in 42 patients with spinal dysraphism. In 22 of these 42 patients, he also performed CT, pyelography, or surgical analyses. The findings of the MRI where corroborated. There were 3 false-positive MRI results for hydromyelia and no false-negative results. [8 [LOE:4]] In another study of Brophy et al. the MRI results from 25 patients with the diagnosis of lipomyelomeningocele and/or tethered cord were compared to the operative findings. The postoperative MRI results of 8 patient were also compared to the preoperative findings. There was one false negative result and 4 MRI results did not show a clear relationship between lipoma , canus and filum. [8 [LOE:4]]<br>Several studies [20 [LOE:5]] [17 [LOE: 2C]] [57 [LOE4]] [27 [LOE:5]]showed that the analysis of congenital spine deformities benefit from MRI. In addition, a CT scan is a good choice to evaluate congenital spinal deformities. [20 [LOE:5]]
 
<br>● [[CT_Scans|CT Scans]] continue to be the preferred method for the assessment of localised bony abnormalities, or a calcified component, of the spinal canal, foramina, neural arches, and articular structures.[49 [LOE 5]]<br><br>
 
== Outcome Measures  ==
 
The following questionnaires are based on patients who underwent spinal surgery, as this is the most common treatment for congenital spine deformities.<br>● The Balanced Inventory for Spinal Disorders [58 [LOE:2C]]<br>● [[Oswestry_Disability_Index|Owestry Disability Index]] [12 [LOE2A]] [16 [LOE:1A]] [7 [GOR:B+C]]<br>● The physical component summary [12 [LOE:2A]]<br>● The Short Form of the Medical Outcomes Study [12 [LOE:1A]] [7 [GOR: B+C]]<br>● [[Brief_Pain_Inventory_-_Short_Form|Brief Pain Inventory]] [16 [LOE :1A]]<br>● [[Roland‐Morris_Disability_Questionnaire|Roland–Morris disability questionnaire]] [16 [LOE :1A]] [7 [GOR : B+C]]<br>● SRS-22 Questionnaire [21 [LOE:2C]]<br><br>
 
Also see [[Outcome_Measures|Outcome Measures Database]]
 
== Examination  ==
 
An inspection and a physical examination are required as usual [10 [LOE:2C]]. In the physical examination of a patient with kyphosis, different components should be included. Firstly, an analysis of the posture should be carried out. This may reveal gibbus deformity or a round back. Secondly, palpation should be carried out to feel for spinal abnormalities, and may identify that the tenderness of the paraspinal musculature, which is often the case. Thirdly, the range of motion during flexion, extension, lateral bending and spinal rotation of the back should be measures. This provides information on how far the patient can perform these different movements. Asymmetry can be noted too. The deformation is palpated during the examination of a range of motions to assess the flexibility or rigidity of the curve. Finally, the Adam’s forward bend test may reveal a thoracolumbar kyphosis. [56 [LOE:5]]<br>However a 2009 review [10 [LOE:2C]] also indicated that a complete neurologic evaluation should also be carried out to rule out the presence of intraspinal anomalies. Patients with congenital spondylolisthesis show deficits in their neurological examinations. [31 [LOE:1A]] A neurological evaluation includes an evaluation of pain, numbness, paresthesia like tingling, extremity sensation and motor function, muscle spasm, weakness, and bowel/bladder changes. [56 [LOE:5]]<br>According to Karachalios Theofilos et al., the [[Adam's_forward_bend_test|Adam's forward bend test]] is not a safe diagnostic criterion for the early detection of scoliosis. The reason why is because of an unacceptable number of false-negative findings. This means that the test results come out negative when they should be positive. For early detection of scoliosis, the use of the combination of back-shape analysis methods is recommended. Methods of analysis of back surface shape is designed to present most of the numerical parameters needed to assess the progress of the disease as it affects body shape. Examples of these methods are rasterstereographic three-dimensional back surface analysis and reconstruction of the spine. This can be safely used with the introduction of cut-off limits for referral being a useful procedure. The use of the forward-bending test must be questioned according to Karachalios Theofilos et al., because the incidence of significant scoliosis is low. [32 [LOE:2A]]<br>In a study by Côté Pierre et al., where the diagnostic accuracy and reliability of the scoliometer and Adam’s forward bend test were examined, it was concluded that the scoliometer and the Adam’s forward bend test have an adequate interexaminer reliability for assessment of the thoracic curves. The scoliometer had a better interexaminer agreement in the lumbar spine compared with the Adam’s forward bend test. On the other hand, the scoliometer has a high level of interexaminer measurement error. This limits its use as an outcome instrument. The Adam’s forward band test is more sensitive compared to the scoliometer. Côté Pierre et al., consider that this test is the best noninvasive clinical test to evaluate scoleosis. [13 [LOE:2C]]<br> “Congenital scoliosis presents a major challenge to the physician as a result of the possibility of a wide variety of primary and secondary abnormalities. These abnormalities develop during fetal life, and thus treatment of these patients often necessitates numerous tests and thorough repetitive examination by the physician.” was stated in an article in the spine journal, 2005. [31 [LOE:1A]]<br>For the examination of spina bifida oculta, X-ray examination is the only valid test to confirm this type of neural tube defect . [31 [LOE:1A]]<br><br>
 
== Medical Management <br>  ==
 
A 2009 review found that the natural history, the character and location of the deformity ultimately influence the choice of treatment. [11 [LOE:2C]]Another 2009 review concluded that spinal instrumentation for congenital spine deformity cases is safe and effective. [28 [LOE:2A]] [29 [LOE:2B]]In addition, the growing rod surgery is found to be safe and effective in selected patients with congenital spinal deformities. [18 [LOE:4]] [65 [LOE:5]]The size and weight of the patient determines the size of spinal implants, whereas the surgical fixation anchors will be determined by the anatomy of the patient and the anomalies present. [28 [LOE:2A]] The complications associated with the use of this spinal instrumentation are infrequent and the curve correction, length of immobilisation and fusion rate is improved.[29 [LOE:2B]]
 
<br><u>Growing rod surgery</u><br>Growing rod surgery is one of the options for the correction of scoliosis; this is a modern alternative treatment for young children with early onset scoliosis. Elsebai HB et al. focused on its use in progressive congenital spinal deformities. The incidence of complication remained relatively low. [18 [LOE:18]] [65 [LOE:5]] Also Yazici, Muharrem MD and Emans, John MD also recommend this technique for patients where the primary problem is at the vertebral column.
 
<br><u>Expansion thoracostomy and VEPT</u><br>For severe congenital spine deformations, when large amount of growth remains, expansion thoracostomy and VEPTR, which is a curved metal rod designed for many uses, are the most appropriate choice. These methods are used when the primary problems involve the thoracic cage, for example when there are rib fusions or/and when developing Thoracic Insufficient Syndrome. [65 [LOE:5]]But the incidence of complications using VEPTR is relatively high. [46 [LOE:3A]]
 
<br><u>Resection and fusion</u><br>For treatment of congenital scoliosis caused by hemivertebra posterior hemivertebra, resection and monosegmental fusion seems to be effective. This treatment results in an excellent correction in both the frontal and sagittal planes. [66 [LOE:4]]Early surgery is typically prescribed as a treatment for children with congenital scolisose, even though there is little evidence concerning its long term results. There are also no studies conducted to confirm the hypothesis that spinal fusion surgery for children with congenital scoliosis is an Evidence-Based treatment. In addition, there are conflicting data about the safety of hemivertebra resection and segmental fusion wich use pedicle screw fixation. [46 [LOE:3A]]<br><br>
 
== Physical Therapy Management <br> ==
 
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== Key Research  ==
 
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== Recent Related Research (from [http://www.ncbi.nlm.nih.gov/pubmed/ Pubmed])  ==
 
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== References  ==
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[[Category:Congenital Conditions]]

Latest revision as of 15:25, 9 January 2023

Original Editors - Gertjan Peeters

Top Contributors - Ine Van de Weghe, Gertjan Peeters, Lucinda hampton, Scott Cornish, Kim Jackson, Admin, WikiSysop, Mande Jooste, Chelsea Mclene, De Maeght Kim and Mila Andreew  

Introduction[edit | edit source]

Adolescent idiopathic scoliosis (Paria et al., 2015).jpg

Congenital spine deformities are disorders of the spine that develop in an individual prior to birth. The vertebrae do not form correctly in early fetal development and in turn cause structural problems within the spine and spinal cord. These deformities can range from mild to severe and may cause other problems if left untreated, such as developmental problems with the heart, kidneys and urinary tract, problems with breathing or walking, and paraplegia (paralysis of the lower body and legs).

Medical researchers are still unsure of what actually causes the defects responsible for congenital spine deformities. In these disorders, the vertebrae are often missing, fused together and/or misshapen or partially formed.[1]

Etiology[edit | edit source]

The causes of congenital vertebral anomalies are likely to be

  • Genetic factors, e.g. defects in the Notch signalling pathways. (Notch 1 gene has been shown to coordinate the process of somitogenesis by regulating the development of vertebral precursors in mice), Chromosome 13 and 17 translocations (associated with the development of hemivertebrae). Genetic theories are supported by molecular, animal, and twin population studies.
  • Environmental factors have also been suggested, and these include exposure to toxins including carbon monoxide, the use of antiepileptic medication, and maternal diabetes.[2]

Types[edit | edit source]

The spectrum of congenital deformities of the spine includes a range of conditions that blend gradually from scoliosis through kyphoscoliosis to pure kyphosis. These deformities occur when an asymmetric failure of development of one or more vertebrae results in a localized imbalance in the longitudinal growth of the spine and an increasing curvature affecting the coronal and/or sagittal plane, with a risk for progression during skeletal growth.

The consequence of unbalanced growth of the spine can be the:

  1. Development of a benign curve with slow or no progression, in which case observation may be the only treatment required.
  2. Types of vertebral abnormalities that produce considerable asymmetry in spinal growth and the development of very aggressive deformities with consequent functional, cosmetic, respiratory, and neurological complications. Understanding the anatomical features of the individual vertebral anomalies and their relation to the remainder of the spine makes it possible to predict those abnormalities that are likely to produce a severe curve. Recognizing the natural history of the deformity at an early stage can in turn allow appropriate surgical treatment, with the aim of preventing the development of severe spinal curvature and trunk decompensation.[2]

Examples of a congenital spinal deformities include:

Characteristics/Clinical Presentation[edit | edit source]

Scoliosis cobb.gif

Congenital abnormalities of the spine have a range of clinical presentations. Some congenital abnormalities may be benign, causing no spinal deformity and may remain undetected throughout a lifetime.

Some deformities will result in sagittal plane abnormalities, for e.g. kyphosis or lordosis, whereas others will primarily affect the coronal plane e.g. scoliosis. The resultant spinal deformity is often a complex, three-dimensional structure with differences in both the coronal and sagittal plane, along with a rotational component along the axis of the spine.[4]

Symptoms of Congenital Spine Deformities[edit | edit source]

Doctors often detect any spine deformity at birth if there is any abnormal curvature in the back. However, some spine deformities until later in childhood and/or adolescence when symptoms worsen. Physical signs of congenital spine deformities typically include:

  • Tilted pelvis
  • Difficulty walking
  • Difficulty breathing
  • Abnormal curvature or twisting in the back, left or right, forward or backward
  • Uneven shoulders, hips, waist or legs

Respiratory Implications[edit | edit source]

Abnormal development of the spine can cause significant scoliosis, kyphosis, or lordosis, resulting in body deformities that can be distressing to patients and their families. The more serious threat to long-term health is the adverse effect of abnormal development of the spine on pulmonary function.

  • This is well documented for curves exceeding 90 degrees, which cause severe restrictive lung disease, but not well understood for lesser curves. Pulmonary function is an important determinant of long-term survival.
  • Increased rates of mortality, mostly resulting from pulmonary failure, have been seen in patients with untreated infantile scoliosis beginning at the age of 20 years, with a rise in mortality rates to fourfold above normal by the age of 60 years[5]

Diagnostic Procedures[edit | edit source]

There are several different procedures that can be used to carry out the imaging of the spine. [6]

  • X-Rays are useful for showing structural deformities such as hemivertebrae, butterfly vertebra, or incomplete fusion of posterior elements. X-ray is used if no imaging of the spinal cord is required. For scoliosis, erect posterior-anterior frontal and/or lateral views (with breast shielding) are usually obtained. [7]
  • MRI is most frequently used for imaging of the spine in adults as the spinal canal and its content can be analysed.
  • CT Scans continue to be the preferred method for the assessment of localised bony abnormalities, or a calcified component, of the spinal canal, foramina, neural arches, and articular structures. [7]

Treatment[edit | edit source]

Thor 4.png

In most cases, nonoperative treatment options are recommended before surgery is considered. Nonoperative treatment options typically include pain medication, certain braces and physical therapy (that includes gait and posture training).

Surgery[edit | edit source]

Surgery Is Considered If:

  1. The spinal deformity is progressing
  2. The condition has caused unbearable physical deformity
  3. The patient experiences chronic pain that cannot be relieved by nonoperative treatment options
  4. The condition has caused compression of the nerve roots or spinal cord[1]

Spinal instrumentation for congenital spine deformity cases is safe and effective, [8] [9] as is growing rod surgery for selected patients with congenital spinal deformities. [10] [11] The size and weight of the patient determines the size of the spinal implants, whereas the surgical fixation anchors are determined by the anatomy of the patient and the anomalies present. [9] The complications associated with the use of this spinal instrumentation are infrequent and the curve correction, length of immobilisation and fusion rate is improved.[9]

  1. Growing Rod Surgery: Growing rod surgery is one of the options for the correction of scoliosis, a modern alternative treatment for young children with early onset scoliosis. The incidence of complication remained relatively low [10] [11] and is also recommended for patients where the primary problem is at the vertebral column.
  2. Expansion Thoracostomy and VEPT: For severe congenital spine deformations, when a large amount of growth remains, expansion thoracostomy and VEPTR (a curved metal rod designed for many uses), are the most appropriate choice. Used when the primary problems involve the thoracic cage, eg when there are rib fusions and/or with developing Thoracic Insufficient Syndrome, [11] but the incidence of complications using VEPTR is, however, relatively high.[12]
  3. Resection and Fusion: For treating congenital scoliosis caused by hemivertebra posterior hemivertebra, resection and monosegmental fusion appears to be effective. This treatment results in an excellent correction in both the frontal and sagittal planes. [13] Early surgery is typically prescribed as a treatment for children with congenital scoliosis, even though there is little evidence for its long term results. [12]

Physical Therapy[edit | edit source]

Cp child sit balance.jpg

The ICF has underscored the need for therapists to provide a holistic approach to treatment, focusing not only on exercises, stretches, and what a child is unable to do, but also on the child’s abilities. The approach to therapy is functional and questions whether a child can actively participate with his or her current level of function.

A physiotherapy assessment is required for children with early onset scoliosis to enable them to function to their fullest potential within society. Assessments provide a baseline for future interventions and establish goals that are appropriate and achievable for the child and the family within their environment.

  • Many factors are involved the assessment including the pathology of the child’s condition, family input and expectations, the child’s environment, the equipment needs, and the ability to access services.
  • This assessment is necessary to establish what is required for each individual.

An initial assessment may consist of observation of the child at play. This is most appropriately undertaken within the home environment, where the child will be most at ease and will play with his or her own toys. However, this may not always be possible. Play provides many benefits for both child and therapist.

Play is the most likely way in which rapport will be established between the child and the therapist, but it also provides the opportunity to observe a variety of factors when eg In what position does the child play when lying, sitting and/or standing; Does the child move from one position to another?; How does the child move?; What motivates the child in his or her play?; What kind of toys does the child choose?

It is important within the role of physiotherapist to consider the following:

  • The child’s abilities, needs, hobbies;
  • Needs of the family members and what is important to them;
  • Role of the child within the family, especially if the child has siblings;
  • The environments inside and outside the home to which the child has access and the child’s level of activity and participation.[14]

See physiotherapy sections in these great pages

Scoliosis

Kyphosis

Scheuermann's Kyphosis

Adam's forward bend test

Outcome Measures[edit | edit source]

The most commonly used questionnaires with patients who have undergone spinal surgery include

References[edit | edit source]

  1. ↑ 1.0 1.1 Khavkinckinic Congenital spinal deformities Available:https://khavkinclinic.com/congential-spine-deformities/ (accessed 10.10.2021)
  2. ↑ 2.0 2.1 Musculoskeletalkey 6 Congenital Deformities of the Spine Available: https://musculoskeletalkey.com/6-congenital-deformities-of-the-spine/ (accessed 10.10.2021)
  3. ↑ Klemme WR et al. (2001). Hemivertebral excision for congenital scoliosis in very young children. J Pediatr Orthop. 21 (6), pp761-764.
  4. ↑ Kawakami N, et al. (2009). Classification of congenital scoliosis and kyphosis: a new approach to the three-dimensional classification for progressive vertebral anomalies requiring operative treatment, Spine (Phila Pa 1976), 34 (17), pp1756-65
  5. ↑ Musculokeletalkey Respiratory Implications of Abnormal Development of the Spine Available:https://musculoskeletalkey.com/4-respiratory-implications-of-abnormal-development-of-the-spine/ (accessed 10.10.2021)
  6. ↑ SORANTIN E. et al., 2008 “MRI of the Neonatal and Paediatric Spine and Spinal Canal“, European Journal of Radiology, vol. 68, nr. 2, p. 227 – 234
  7. ↑ 7.0 7.1 Patrick D Barnes. (2009). Pediatric radiology : chapter 9, spine imaging. (3). Mosby
  8. ↑ Hedequist D.J. (2009). Instrumentation and fusion for congenital spine deformities, Spine (Phila Pa 1976), 1;34 (17), pp1783-90
  9. ↑ 9.0 9.1 9.2 Hedequist D.J. et al. (2004). The safety and efficacy of spinal instrumentation in children with congenital spine deformities, Spine (Phila Pa 1976), 15;29 (18), pp 2081-2086
  10. ↑ 10.0 10.1 Elsebai HB et al.,2011  “Safety and Effficacy of Growing Rod Technique for Pediatric Congenital Spinal Deformities“, J Pediatr Orthop, vol 31, nr 1, pp 1-5. Jan-Feb,
  11. ↑ 11.0 11.1 11.2 Yazici M. and Emans J.2009, “Fusionless Instrumentation Systems for Congenital Scoliosis: Expandable Spinal Rods and Vertical Expandable Prosthetic Titanium Rib in the Management of Congenital Spine Deformities in the Growing Child“, Spine, Vol 34, Nr 17, pp 1800-1807
  12. ↑ 12.0 12.1 Moramarco M and Weiss HR. (2015). Congenital Scoliosis, Curr Pediatr 2015 Nov 17
  13. ↑ Zhu X. et al. 2014, “Posterior hemivertebra resection and monosegmental fusion in the treatment of congenital scoliosis. “, Article from Annals of The Royal College of Surgeons of England, Vol 96, Nr5, pp. 41-44
  14. ↑ Musculoskeletal Key 25 Physiotherapy Available:https://musculoskeletalkey.com/25-physiotherapy/ (accessed 10.10.2021)
  15. ↑ COPAY A.G. et al.2008 “Minimum Clinically important difference in lumbar spine surgery patients: a choice of methods using the Oswestry Disability Index, Medical Outcomes Study Questionnaire Short Form 36, and Pain Scales“, The Spine Journal, vol. 8, nr. 6, p. 968 – 974, . 
  16. ↑ 16.0 16.1 16.2 DEVIN C.J. and McGIRT M.J.2015, “Best evidence in multimodal pain management in spine surgery and means of assessing postoperative pain and functional outcomes“, Journal of Clinical Neuroscience, vol. 22, nr. 6, p. 930 – 938.
  17. ↑ 17.0 17.1 BOOS N. and AEBI M. (2008) Spinal Disorders, Fundamentals of Diagnosis and Treatment, Springer, p. 311, 434, 695-696
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