Genetics and environments risk factors for ADHD clinical features.
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More than half of the publishers listed alongside IntechOpen (18 out of 30) are Social Science and Humanities publishers. IntechOpen is an exception to this as a leader in not only Open Access content but Open Access content across all scientific disciplines, including Physical Sciences, Engineering and Technology, Health Sciences, Life Science, and Social Sciences and Humanities.
\\n\\nOur breakdown of titles published demonstrates this with 47% PET, 31% HS, 18% LS, and 4% SSH books published.
\\n\\n“Even though ItechOpen has shown the potential of sci-tech books using an OA approach,” other publishers “have shown little interest in OA books.”
\\n\\nAdditionally, each book published by IntechOpen contains original content and research findings.
\\n\\nWe are honored to be among such prestigious publishers and we hope to continue to spearhead that growth in our quest to promote Open Access as a true pioneer in OA book publishing.
\\n\\n\\n\\n
\\n"}]',published:!0,mainMedia:{caption:"IntechOpen Maintains",originalUrl:"/media/original/113"}},components:[{type:"htmlEditorComponent",content:'
Simba Information has released its Open Access Book Publishing 2020 - 2024 report and has again identified IntechOpen as the world’s largest Open Access book publisher by title count.
\n\nSimba Information is a leading provider for market intelligence and forecasts in the media and publishing industry. The report, published every year, provides an overview and financial outlook for the global professional e-book publishing market.
\n\nIntechOpen, De Gruyter, and Frontiers are the largest OA book publishers by title count, with IntechOpen coming in at first place with 5,101 OA books published, a good 1,782 titles ahead of the nearest competitor.
\n\nSince the first Open Access Book Publishing report published in 2016, IntechOpen has held the top stop each year.
\n\n\n\nMore than half of the publishers listed alongside IntechOpen (18 out of 30) are Social Science and Humanities publishers. IntechOpen is an exception to this as a leader in not only Open Access content but Open Access content across all scientific disciplines, including Physical Sciences, Engineering and Technology, Health Sciences, Life Science, and Social Sciences and Humanities.
\n\nOur breakdown of titles published demonstrates this with 47% PET, 31% HS, 18% LS, and 4% SSH books published.
\n\n“Even though ItechOpen has shown the potential of sci-tech books using an OA approach,” other publishers “have shown little interest in OA books.”
\n\nAdditionally, each book published by IntechOpen contains original content and research findings.
\n\nWe are honored to be among such prestigious publishers and we hope to continue to spearhead that growth in our quest to promote Open Access as a true pioneer in OA book publishing.
\n\n\n\n
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The first Section of this volume provides readers with background and several methodologies for understanding genetic disorders. Genetic defects, diagnoses and treatments of the respective unifactorial and multifactorial genetic disorders are reviewed in the second and third Sections. Certainly, it is quite difficult or almost impossible to cure a genetic disorder fundamentally at the present time. However, our knowledge of genetic functions has rapidly accumulated since the double-stranded structure of DNA was discovered by Watson and Crick in 1956. Therefore, nowadays it is possible to understand the reasons why genetic disorders are caused. 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It hits worldwide an average of 6–10% of children and 2.5–4% of adults [1, 2]. It also causes emotional self-regulation problems, executive impairment, and space and motor disorganization and may cause language problems in 30–40% of the cases [3].
The language problem in ADHD could be expressed in any age, in different intensity levels, that could bring negative effects in all daily activities and learning process, which depends on the right language acquisition during the child’s development. Among the most common comorbidities in ADHD, the abnormalities in language result in greater unsatisfactory evolution and many problems in verbal and nonverbal abilities, and even more in academic life, as a result of losses in reading and writing appropriation [4].
Thus, it is essential to understand the facts that interrelate ADHD with the cognitive and language development process, or particularly where and how ADHD neurobiological dysfunctions affect the dynamic of the neural network responsible for the receptive, integrative, and expressive language structure in different child neurodevelopment levels.
ADHD leads to emotional and cognitive self-regulation problems, which affect the executive attention and operational memory in the performance of discretionary, routine, and habitual activities. Tasks with no immediate reward which are, at the same time, necessary, priority, and essential for the development of basic abilities and general learning, adding the capacity of self-engage for whole process conclusions [5].
The cause of this disorder is still unknown but is generated by the interaction between genetic and environmental factors (Table 1) and by similar epigenetics mechanisms in neuropsychiatry diseases, and they are caused by polygenic inheritances of irregular transmission and are influenced by the environmental and gender predispositions. In the case of ADHD, the predominance is male, in the ratio of 4:1 [6]. So even without a specific cause, these abovementioned data in conjunction with epidemiological evidence provide to the specialists and international consensus a safe outline to the genetic and environmental risk factors for ADHD development (Table 1) [7]. The knowledge about these factors contributes for the clinical surveillance during early childhood in order to observe the possibility of the appearance of the first symptoms, adolescence, and adulthood.
Genetic factors | Environment factors |
---|---|
High heritability (76%) | Prematurity |
Association between twins (80%) | Low birth weight |
Carrier parents (85%) | Perinatal complications |
Average prevalence in countries (5.2%) | Maternal smoking |
Associated with genetic syndromes | Unstable and needy environments |
Associated with 20 genetic mutation | Drug use during pregnancy |
Genetics and environments risk factors for ADHD clinical features.
The symptoms and cognitive-behavioral changes of ADHD are the results of abnormalities in several neuronal connections, both cortical and subcortical, which can lead to functional impairments in one or more brain regions at the same time. The most affected and described connections mainly involve the anterior cingulate gyrus, prefrontal cortex, amygdala, striatum, and ventral integumentary area, that is, both voluntary and involuntary regions of attention that regulate the intensity and support of the attentional focus [8]. These regions are interconnected by the action of dopaminergic and noradrenergic neurotransmitters, and their deficits also contribute to lowering the attentional functional of ADHD. Added to them are the maturational delays that can gradually occur in these connections during the first years of life and which are observed in many research-based evidences in the functional neuroimaging of the brains of children with ADHD when compared to typical children. The pace of neuronal and connective maturation is slower, erratic, diffuse, or delimited and can emerge clinically at different times in the life cycle, from early childhood to late adolescence [8, 9].
Neuroimaging exams, much more developed today because of the technological advances associated with neuroscientific research, such as functional magnetic resonance imaging (fMRI), are able to analyze the maturational dissonance present in groups with ADHD from a comparative perspective with case controls. There are also brain morphometry, cortical thickness index, diffusion images (tractography), surface measurements of brain areas, gyration index, and geodetic mapping. These methods have shown that ADHD leads to microstructural changes and modifies the proportions between the functional regions of the brain [10, 11].
Thus, the various changes present in ADHD can be summarized as dismaturationals, connectives and productive, and abnormal bioavailability of neurotransmitters in the cortical (top-bottom) and subcortical (bottom-up) networks.
If we have a different and inefficient brain to process information, the next question would be: In what and how would it be different? In what functional aspects? What neuropsychological deficits are predominantly present in ADHD?
As there are still no specific biological markers, the description and clinical definition of ADHD is based on the
ADHD DSM-5 criteria. Source: Refs. [
ADHD can lead to three major functional deficits: (1) executive attention deficit, (2) operational memory problems, and (3) self-engagement in sequential tasks without reward [13].
The ADHD patient has a deficit in these three abilities and, therefore, the presentation of its clinical condition and functional difficulties are predominantly concentrated in executive functions, problems in working memory (verbal and nonverbal), difficulties in executive attention, and insufficient surveillance to fulfill correctly activities without immediate attractiveness or pleasure. Even though these characteristics are well defined, there is still no single endophenotypic pattern for ADHD or a neuropsychological profile. However, this evidence is sufficient to better understand the diagnostic approach in clinical suspicion, which evaluation methods to request, and in interdisciplinary evaluations, how to understand the deficits and discrepancies present in each of them and to associate with the main complaints of the child and the child’s school.
Thus, in the neuropsychological evaluation, we have to use the instruments that can measure selective and sustained attention, executive functions, verbal and nonverbal working memory, reaction time, and cognitive flexibility. Furthermore, correlate these assessed skills with the behavior of the assessed person during the exam, their reactions, avoidances, profile of behavioral responses to failure and test prolongation, etc. The description of these behaviors should be part of the feedback for the specialized team and will be useful for the conclusions.
After it all, and the language? The child’s learning, from a young age, in the early years, depends on several factors and, neurobiologically, in his first contact with the world, he needs his sensory and perceptual functions. Vision, hearing, touch, etc. and its perceptual centers in the brain added to the qualitative perceptual functions as well, such as attention and memory, to correctly absorb and fix the selected stimuli in the brain. Language, in this context, results from its innate abilities (presence of a network and integral structure for the language) and the internalization of the “languages” perceived around it. Little is known yet whether ADHD affects more innate or acquired language, but in several comparative studies associating both conditions, it appears that ADHD influences the appearance of language disorders (LDs) much more than the opposite [14, 15]. There are sufficient data demonstrating that, in groups of children with LD, there are proportionally fewer children with ADHD than when evaluating groups of ADHD seeking to verify the presence of LD [16].
The adequate construction and the full development of language structuring processes in childhood depend heavily on attentional, executive, and working memory processes. The union of all these factors in the construction of language can be understood by several psychological theories and theoretical constructs, but it is well summarized in the
The skills that make up the buffer are executive attention, working memory, and phonological awareness (Figure 2). Among the three, the first two are functions specifically associated with ADHD. In ADHD, both are deficient, unstable, and functionally oscillating and end up negatively influencing the development of speech and language in the early years of life, which are skills that depend on phonological awareness and therefore affect the cognitive processes of language.
Interrelation among executive attention, working memory, and phonological awareness to building reading and writing.
In this context, it seems that the selective and sustained attentional deficit would be the main center of disfunction. Attention selectively focuses on one aspect of information and excludes the other. The child who is learning the language from an early age must be able to selectively focus on relevant linguistic information and naturally ignore irrelevant information. He/she must sustain this focus to form an association between an object and a label in the word learning process. When the input source of the language or object changes, the child must also be able to draw attention away to avoid losing relevant information. As language develops, he/she must be able to attend linguistic sequences and social routines for the development of grammatical and pragmatic skills. If he/she cannot do this, whether due to attention deficits or early language problems, the process of language acquisition and consolidation will be fragmented and deficient.
There are also other factors that associate ADHD with language from a genetic and developmental point of view. Children with ADHD may have, in up to 40% of cases, speech development delays because it can affect the perception of sounds during the speech of his peers and caregivers, generate joint problems, and increase chance of stuttering; and by forming phonemes and syllable junction, it is possible to observe a greater slowness in syllabic awareness in these patients [19]. This means the disorder affects attention, motor control (inhibitory and rhythm), and working memory, eventually leading the referred gaps in the evolution of the articulatory and phonological organization.
Another factor described would be the presence of mutations and other genetic abnormalities between both conditions, which would lead to the transmission of their deficits present in the parent(s) to their children. And, finally, the separated association of both conditions that were generated in the same child without one being incidental to the other, but both sharing dysfunctions in specific areas in their interaction, participating in reading and writing language-related functions and language structure [20].
Several publications and researches show language alterations in ADHD patients [21]. There is still a need for greater research about the genetic or environmental factors involved. Some evidence describing genes that appear to be at the interface of both conditions already exists, such as FOX2 and CNTNAP2 [22]. But they still lack models that really demonstrate the solid link between them, what kind of comorbidity is included, and what genetic relationships exist (and, specifically, with which genes or mutations). For now, the most common studies are based on relative risk measures (RRs) and odds ratio (OR), and in these, they observe risks of two to six times greater language problems in ADHD groups when compared to controls [19].
ADHD can affect four axes of language in childhood and adolescence: (1) delays in speech acquisition and language structuring (mainly articulatory, phonological, lexical, and morphosyntactical but also, in a second plane, pragmatical); (2) hearing processing disorders; (3) abnormalities in speech (speech, voice, and fluency); and (4) deficits in the linguistic processes involved in the appropriation of reading and writing and math learning (Table 2).
Axes affected in speech therapy | ADHD effects |
---|---|
Delays in acquiring speech and language during development | Delay in speech acquisition, articulatory errors, memory deficit, and phonological manipulation, problems with rhythm and self-control to speak |
Disorders in auditory processing | Deficits in integration, temporality, and association of sounds |
Abnormalities in speech | A deficit in pragmatic language and in the perception of prosody during the speech, disrespect to the shifts of conversation, loss of significant moments to understand the intention of the speech, disorganization in the sequence of who will speak, frequent forgetfulness, and long-winded speech |
Deficits in the language of reading and writing | Slowness in literacy, delayed processing and spelling engine, poverty in the interpretation and production of texts, spatial trouble remembering quotes and locations in terms of text, and little memorization of facts, concepts, rules that make up the reading and writing |
Four axes of language in childhood and adolescence affected for ADHD.
In research conducted with 76 children with ADHD and an average age of 11 years old, Bruce e cols. (2006) observed that more than half of them were accompanied by a speech therapist and the rest did not receive any intervention. The results showed that most children had problems in pragmatic language, language comprehension with greater receptive communication deficits and delays, and learning gaps in reading and writing. In this same work, cognitive tests were carried out and the evidence showed that the pragmatic losses were due to the inattention and impulsive behavior of ADHD [23]. There are at least seven ADHD symptoms present in the
Besides, the existence of speech delay, articulatory problems, and stutter are relatively frequent in ADHD. Researches show that 25–40% of the cases suffer from such alterations and that indicates possible harm in complex acquisition with aging until it becomes predisposed comorbidity with dyslexia [24]. Many children with ADHD need speech therapy in their early ages of life, and a great part of them keep the therapy until the beginning of school and literacy years, but demonstrations show that with early intervention, the prognostic can get much better [25]. Pieces of evidence show larger deficits in the phonological and articulatory abilities, semantic structure, vocabulary repertoire, reading comprehension, and pragmatic process during dialogs and discursive abilities [26, 27].
The hearing processing is a set of specific and nonspecific skills associated with the set of skills necessary for an adequate perception, integration, and interpretation of what is heard in the most diverse environments. ADHD, due to its characteristics, especially affects the nonspecific skills necessary for auditory processing: the integrative, temporal, and organizational aspects of auditory discrimination. Almost 50% of cases of auditory processing disorders have comorbid symptoms of ADHD and their treatment requires intervention in both for good results to occur [28, 29].
Regarding discursive skills, several changes are observed in people with ADHD. Problems in sustained attention, impulsiveness to conclude and accelerate the discursive times and attentional lack of control, and seeming not to hear the interlocutor make these patients have greater difficulty in applying the right words and expressions at the right time and with plausible intentionality. Through it away occurs both to listening and delivering speeches and, especially, in the consistent persistence of the records heard, they show sudden and erratic self-distractions, little perception for moments of exclamations and tangential comments, hum and make strange noises during the process, enters with new topics decontextualized, and have little sensitivity to perceive commotions during the speech [2]. These difficulties can lead to great losses in the classroom, in lectures, in the coordination of speeches during a comment, and in the correct and strict understanding of a dialog or a recommendation or even “scolding” or warnings from your parents or caregivers. Perhaps, this explains why these patients tend to repeat the same mistakes or do not understand small insinuations or messages contained in the speeches that they hear and receive severe and repeated criticisms in social relations for this.
The significant problems and deficits observed in the processes of learning to read and write and, even later, in the literacy phase and in the already consolidated phase of the acquisition of these skills in these patients are varied and numerous—and today well described—in the scientific literature. People with ADHD have delays and gaps in the process of acquiring and appropriating basic skills for learning to read and write in up to 30–40% of cases. We see little memorization of graphic and phonemic symbols, difficulty in joining letters, and graphophonemic decoding. They usually forget much of what they saw or heard in class and can evolve greater irregularity so that they will acquire the proper fluency and automatic word recognition, sentences negatively affecting the ability to interpret, assimilate statements, and produce texts coherently. They may have more difficulty in organizing the words and phrases sequentially and “lose themselves” in the cohesion of the set of information they write in addition to often not being able to remember all the significant details to clarify an argument in writing.
Not being able to remember orthographic rules or perceive prosodic circumstances in the text to properly apply punctuation or paragraphs are constant in ADHD and can damage the semantic-pragmatic nexus. The longer and subliminal the writings, the greater the difficulties in textual praxis and the subsequent errors. Not to mention the problems of graphomotor coordination generated by the problems of rhythm, persistence, and inhibiting self-control of manual writing mobility, which in addition to deteriorating handwriting, leads to early tiredness, pain in the limb, and aversion/displeasure toward writing. They do not even take care of their writing tools because they lose, break, and play more with them in their hands. By making use of them at the time of class, they confusingly drop, destroy, and barely manage to stay at your desk during the class period. Furthermore, as they usually strain to perform in a less productive/in-depth manner than their colleagues, their text ends elementary, without details, abbreviated, saving words and, even so, they think what they have done is great and “enough”; but, actually, it had resulted in an insufficient work that is poorly done and that had to be corrected. Persistent, recurring delays lead to a progressive inadequate acquisition of skills and many of these young people progress to learning disorders [19].
All of this evidence can help to understand why ADHD patients act socially more with their hands (by actions) than with their eyes and mouth (by structuring words and arguments) and then being less assertive, wordy, and emotionally loosely organized in social interaction. Not to mention the significant losses in school performance, poor interpretation of statements, and low self-esteem for academic processes. The risk of school failures and dropouts is four times higher in these patients and reduces the chance of completing and receiving a university degree by up to eight times [30, 31].
Finally, the knowledge about these changes by health and education professionals is very important because the effects on the global development of the child’s language will lead to a negative, progressive impact in all related areas. The severe appearance of gaps in school learning, in the understanding of verbal and nonverbal processes of social communication, and the emotional and affective relationships that depend on language skills can lead to subjective problems in the patient and in family dynamics with different impacts throughout his life.
In the face of all the observations and the aforementioned evidence, the hearing care professional should be prepared to evaluate these children. Delays in speech and language acquisition should always suggest the possibility of ADHD as well as the presence of quantitative and qualitative deficits in BP, speech skills, and reading and writing, depending on the chronological age. However, studies and publications on ADHD and aspects related to language around the world still lack, except on the area of reading, which is the only one with more robust studies [32].
There is still no protocol or consensual or systematic recommendations on how the speech therapist can act in this area. However, there are articles and publications that can help this professional to create a basic protocol to better direct their work and to assist in a complementary, more refined, and objective way for the interdisciplinary team in order to better conclude the diagnosis and more broadly direct future strategies’ therapeutic [32, 33].
Even so, some recommendations can help, right now, to improve the procedures of speech therapy assessment in ADHD:
Knowing deeply the signs and symptoms of ADHD.
Knowing how to correlate the neurobiology and neuropsychology of ADHD with speech therapy assessment.
Track in the child’s neurodevelopment early signs of ADHD and possible effects of ADHD on the child’s speech and language.
Knowing more clinically the signs of impaired reading and writing that may be associated with language problems or ADHD.
Interpreting the BP test while considering the nonspecific factors that may be negatively influencing the results.
Seeking consensus, new publications, and speech therapy forums or congresses that will systematize instruments to be used in the assessment of these children (instruments in speech therapy, even a foreign language, can help a lot) (Table 3) [21].
Test name | Age | Domains evaluated |
---|---|---|
Clinical evaluation of language fundamentals—4 | 5–21 years | Formulation of sentences, the definition of words, and their classes and semantics |
Test of language development primary | 4–9 years | Semantics and grammar, reception and expression, and general language skills |
Communication abilities diagnostic test | 3–9 years | Varied tests for syntax, semantics, and pragmatics during stories, games, and conversations |
Language processing test 3: Elementary | 5–11 years | Association tasks, categorization, similarities/differences, and multiple meanings and attributes |
Children’s communication checklist-2 | 4–16 years | Evaluates verbal and nonverbal social communication |
Assessment of comprehension and expression | 6–11 years | Understanding sentences, inferences, nonliteral language, and use of narratives |
Test of language competence | 5–18 years | Ambiguous sentences, comprehension, inferences, and figurative language |
Test of pragmatic language | 8–18 years | Pragmatic language |
Test of attention, executive, and language functions | Under 5 years | Translated available tests, validated in neuropsychology and speech therapy |
Instruments in speech therapy for language assessment in ADHD.
Knowing the aspects of ADHD related to the development, structuring and school management of language is essential for undertaking an adequate assessment of these patients during and after the diagnostic process. During, in order to decisively contribute to speech therapy data in the confirmation of a further condition without definitive biomarkers. After, in order to delineate with the results the treatment needs that may involve the speech therapist, who has the role of intensively intervening in deficits that are not within the competence of the school or family but should be corrected by the specialist in order to provide a more favorable and persevering school performance.
Surgical approaches to the cervical spine include anterior, posterior, trans-oral, lateral trans-mandibular which can be done by open, tubular MIS or full endoscopic as described recently.
Anterior cervical spine surgery is commonly performed for the treatment of varieties of cervical spine pathologies that include degenerative, trauma, tumors, deformities and infections [1].
Techniques of anterior cervical spine surgery include anterior cervical discectomy and fusion (ACDF), anterior cervical corpectomy and fusion (ACCF), for primary stability and fusion different type of devices are used, such as cages, plates, cylinders, as well as bone growth promoters, substitutes, and bone morphogenic protein (BMP) have been use. In selected cases, discectomy alone is also performed especially through MIS or endoscopic techniques [2].
Anterior cervical discectomy and fusion (ACDF) was first described by Smith Robinson in 1968, when he performed discectomy and fusion was done using tricortical bone graft, during 1990s more than 500,000 anterior cervical discectomy and fusion (ACDF) was done in USA [3].
Anterior cervical spine surgery is safe and effective harboring a wide range of indications with a low rate of morbidity and mortality [4]. Complications following anterior cervical spine surgery include airway complications, dysphagia, dysphonia, infection, implant failure, non-union, neurological deficit, vascular injuries, implant subsidence, adjacent level disease and even death [5, 6, 7, 8, 9, 10].
Dysphagia is one of the most common complications following anterior cervical spine surgeries, dysphagia is a symptom indicative of an abnormality in the neural control of, or the structures involved in, any phase of the swallowing process, which involve both voluntary and involuntary/reflex responses. Oropharyngeal dysphagia is an impairment in the speed and/or safe delivery of food materials from entry in the mouth to the upper portion of the esophagus. If present, the patient is at an increased risk of aspiration and may be unable to swallow properly liquids, foods, or saliva. The condition is considered long standing if it is still present more than 4 weeks after surgery [11].
Dysphagia following anterior cervical surgery can occur in the three phases of swallowing process (oral & transport phase, pharyngeal & esophageal) [12].
Postoperative dysphagia is the most common complications following ACSS, the incidence ranges between 1 and 79% [1, 11, 13]. The criteria used to define and detected dysphagia may influence the reported incidence, many factors impact the exact incidence which include:
The severity of dysphagia (mild, moderate, or severe), most of the cases fortunately presents with mild dysphagia.
Timing of postoperative detection (immediate postoperative <2 weeks, 2 weeks, 4–6 weeks, 8
Measurement tools (repeated questionnaires or patients self-reported). The repeated questioning provides a higher incidence than self-reported [16, 17, 18].
Surgical Techniques & Approaches (Revision, ACSS, PCSS, Standalone cage, Cervical Plate, ACDF, ACCD, & Single vs. multilevel) Revision, ACSS, multilevel surgery, cervical plating, ACCD are associated with a higher incidence [19].
Type and design of the study & sample size (retrospective or prospective, no. of the patients in the study, and the presence of control group or not). most of the studies are no controlled retrospective in nature with an intrinsic inability to detect preoperative swallowing difficulties, with no control group [20], the higher sample size the less incidence [21].
The incidence ranges between 28 and 57% in the intermediate and long term postoperative period (1–6 weeks), [17, 22], Riley et al. on a multicentric study that enrolled 454 patient who underwent ACSS in a multicentric study between 1998 and 2001 found that the incidence of postoperative dysphagia was 28.2, 6.8 and 7.8% at 3, 6, and 24 months, respectively, and at both 6 and 24 months the prevalence rate of persistent dysphagia was 21% [21]. On another study, the average incidence varied along the post-operative time after ACSS: 53.2% at 1 month, 31.6% at 2–4 months, 19.8% at 6 months, 16.8% at 12 months and 12.9 at 24 months [11].
Lee et al. reported an overall prevalence rate of postoperative dysphagia over time as the following: 54.0% at 1 month; 33.6% at 2 months; 18.6% at 6 months; 15.2% at 1 year; and 13.6% at 2 years [19].
Later, Riley et al. in a systematic review found that the incidence of postoperative dysphagia decreased with time after surgery and reach plateau at rate of 13–21% at one year [1].
Most cases of postoperative dysphagia are mild and transient, resolving gradually within 3 months [19, 23, 24] without any specific treatment. Most of the cases of postoperative dysphagia resolve within 1 year, however, about 5–7% of cases of dysphagia after ACSS are still present 6–24 months after surgery [11].
Yue et al. reported 15% rate of dysphagia after 5 years of ACSS [24]. The predominant cause of persistent postoperative dysphagia appears to be an increase of the thickness of posterior pharyngeal wall above the upper esophageal sphincter [25].
Anterior cervical spine surgery impact both physiological and anatomical function of the swallowing, and these factors impact the neural, muscular & mucosal structures [19, 26]. However, in some cases dysphagia can occur in the absence of any noticed postoperative complication in anterior cervical spine surgery (ACSS).
We can summarize the etiology of dysphagia following anterior cervical spine surgery as the following:
Prevertebral soft tissue swelling is result of hemorrhage or intraoperative soft tissue trauma which leads to oedema which may cause transient dysfunction of the esophageal movement by impairing the upper esophageal sphincters. Nevertheless, Kang et al. failed to find a significant correlation between the thickness of prevertebral soft tissue and the incidence of dysphagia [27, 28].
The presence of anterior cervical osteophyte, diffuse idiopathic skeletal hyperostosis can cause dysphagia secondary to mechanical impingement of esophagus, as well as inflammation causing adhesion and fibrosis.
In ACDF with plating, the presence of a plate can contributes to the same pathophysiology cause of dysphagia. Although the concept is not yet fully established, it has been proven that a thicker cervical plate is associated with a higher incidence of dysphagia [22].
Several studies confirmed that standalone cages are associated with less incidence of dysphagia when compared with ACDF with plating. However, this conclusion is not universally accepted [29].
Retraction of esophagus during surgery to expose the anterior cervical spine is one of the possible cause of postoperative dysphagia while some studies concluded that esophageal retraction may cause ischemia of the esophageal wall which in turn compromise the motility [12], one study failed to confirm the association between the intraoperative pressure of esophageal retraction and postoperative dysphagia [30].
Intraoperative nerve traction or injury is another possible cause of postoperative dysphagia. Different nerves traction will cause different esophageal segment dysphagia. For example damage or traction to Hypoglossal nerve will impact the oral phase of swallowing, while injury or traction to the connection between the pharyngeal plexus and pharyngeal muscle will impact the pharyngeal phase of swallowing. Injury of the recurrent laryngeal nerve (RLN) and superior laryngeal nerve (SLN) are both operative in the development of postoperative dysphagia, reason why a sound knowledge of their anatomy and meticulous surgical technique are essential to decrease the postoperative dysphagia [11].
Anderson et al. [11] summarized the causes of oropharyngeal dysphagia as seen in Table 1.
Categories of causes | Representative conditions |
---|---|
Collagen diseases | Scleroderma, dermatomyositis |
Conditions that give rise to fixed mechanical obstruction | Previous surgical treatment, tumor, cervical rings or webs, radiation/radiotherapy (pharyngeal phase) |
Congenital neurologic/structural disorders/malformations | Dysautonomia, cleft palate, cerebral palsy, muscular dystrophy |
Iatrogenic | Medications (chemotherapy, neuroleptics, etc.); pill injury (intentional; oral preparatory phase) |
Infectious | Botulism, diphtheria, Lyme disease, mucositis (herpetic lesions, cytomegalovirus, Candida, aphthous ulcers); syphilis (oral preparatory phase) |
Intrinsic functional disturbances | Cricopharyngeal achalasia, Zenker diverticulum (pharyngeal phase) |
Medical | Advanced chronic obstructive pulmonary disease, deconditioning, intubation (prolonged endotracheal), rheumatoid arthritis, some viral infections |
Metabolic | Amyloidosis, Cushing syndrome, thyrotoxicosis, Wilson disease |
Myopathic | Connective tissue disease (overlap syndrome), myotonic dystrophy, paraneoplastic syndromes, polymyositis, sarcoidosis |
Neurologic | Dementia, Guillain-Barré syndrome, Huntington disease, metabolic encephalopathies, polio, postpolio syndrome, traumatic brain injury, seizure disorders, tardive dyskinesia, brainstem tumor, cerebral vascular accident |
Neuromyogenic | Myopathies (inflammatory, metabolic), parkinsonism, head trauma, stroke (oral preparatory phase and pharyngeal phase) |
Progressive neurologic disorders | Dystonia, progressive supranuclear palsy, oculopharyngeal dystrophy, myasthenia gravis, amyotrophic lateral sclerosis, multiple sclerosis, Parkinson’s disease (oral preparatory phase and pharyngeal phase) |
Neurosurgical procedures | Aneurysm clippings, anterior cervical spine surgery; resection of tumor |
Structural | Extrinsic compression, cervical osteophytes, scar tissue (oral/pharyngeal), stenosis (postsurgical/radiation/idiopathic), cricopharyngeal bar, skeletal abnormalities (pharyngeal phase) |
Causes of oropharyngeal dysphagia according to categories, with corresponding representative conditions [11].
Regarding the surgical techniques, the causes of dysphagia are described in Table 2.
Approach/technique | Possible resulting condition |
---|---|
Dissection or retraction | Damage of the aerodigestive pathway; muscle and serosa injuries and edema; tissue damage with subsequent edema; bruising or laceration of tissues |
SLN injury, most at risk with surgery involving C3-C4 , which can cause laryngeal sensory impairment | |
Injuries to the pharyngeal plexus or vagus nerve, glossopharyngeal nerve, or hypoglossal nerve (most at risk with surgery at or above C3) | |
Dysfunction of the pharyngeal plexus, which affects the motility of the visceral wall | |
Dissection or retraction of the longus colli muscle | Muscle and subperiosteal bleeding; prevertebral soft tissue swelling |
Retraction | Denervation of the pharyngeal plexus (involving the glossopharyngeal nerve and the pharyngeal branch of the vagus nerve) |
Excessive or prolonged retraction | Dysphagia |
Esophageal edema, impingement, ischemia, denervation, re-perfusion injury | |
Posterior pharyngeal wall edema, preventing a full epiglottic deflection | |
Soft tissue fibrosis; soft tissue swelling; scar tissue formation | |
Significant tension during lateralization of the larynx (RLN most at risk with surgery involving C3–C4 and C5–T1) | RLN injury, which can cause vocal fold paresis or paralysis |
RLN stretch injury and/or RLN compression injury from ET cuff compression | RLN palsy, which can cause vocal fold paresis or paralysis |
Use of rh-BMP-2 | Early local inflammatory response to rh-BMP-2 (dose-related) |
Concurrent intraoperative traction on both the RLN and pharyngeal plexus | RLN injury |
Direct esophageal injury | Impaired opening of the upper esophageal sphincter |
Localized denervation of portions of the esophagus and hypopharynx | |
Pharyngeal wall ischemia | |
Hemostatic or coagulopathy | Hematoma formation |
Use of instrumentation | Any mechanical irritation or impingement against the esophagus |
Differences in postoperative cervical kyphotic-lordotic deformity | |
Thickness or anterior profile of anterior cervical plates and instrumentation | Irritation and inflammation |
Plate on the esophagus | Mass effect |
Use of graft | Craft (implant) protrusion, graft extrusion or cord compression |
Improper halo or collar positioning | Cervical hyperextension |
Causes of oropharyngeal dysphagia according to operative approach and operative technique.
Abbreviations: ET, endotracheal; rhBMP-2, recombinant human bone morphogenetic protein-2; RLN, recurrent laryngeal nerve; SLN, superior laryngeal nerve.
Smith-Hammond et al. [20] found that older patients have an higher risk of dysphagia following ACDF, while Lee et al. [19] and Bazaz et al. [19] found the no correlation between the age and the risk of dysphagia.
Female gender harbors an increased risk of dysphagia following ACDF [13, 19], while other studies failed to find the association between sex and dysphagia [21, 31].
The longer the surgical time, which happens in complex procedures or in surgeries performed by less experienced surgeons, the higher contribution to the development of dysphagia, although some studies failed conclude it.
Some studies have shown that multiple levels surgeries represent a significant risk factor for dysphagia [19], however others did not find any correlation between the multilevel and risk of dysphagia [31].
In cases of revision surgeries, the presence of scar tissue can distort the anatomy compared to index surgery, rendering esophageal injury more likely [19].
Depending on the surgical indications related to the pathology, the level affected and the presence of deformity, different implants are used in anterior cervical surgeries. According to his/her experience and preferences, the surgeon may use stand-alone cage, hybrid cage, cervical plating, or total disc replacement [34].
The use of cervical plate in ACDF remain a controversy issue, especially in single and two levels degenerative disc disease, but many studies support its use in more than 2 levels in degenerative spine, in trauma, tumor, infections, especially if corpectomies are advocated.
Plating has the advantage of increase fusion rate, better lordotic reconstruction, enhanced primary stability of the construct, superior disc height preservation and lower subsidence rate [35]. However these benefits come at the cost of screw pullout, loosening of plate, hardware breakage, increase in the operative time and overall costs, and increased risk of dysphagia [34].
Total disc arthroplasty (TDR) become popularized in last decades as a motion preserving technique in the anterior cervical surgeries, avoiding the fusion and decrease the adverse effect of ACDF, in selected indications. However, studies found no difference in the risk of dysphagia when comparing between TDR and ACDF [36].
Bone morphogenetic protein is used during cervical surgery to increase the fusion rate especially in cases of accrued risk of pseudoarthrosis. Some studies found that BMP may constitute a risk factor for dysphagia following ACDF as it induces inflammation and oedema which will affect the surrounding soft tissue, including the esophagus [37, 38].
Studies found that a high level of cervical spine surgery, such as C3-4, is associated with more dysphagia than the lower levels. In the upper cervical spine, the risk of superior laryngeal nerve injury is amplified which entails an increased risk of dysphagia. As the retropharyngeal space in the upper cervical spine is more generous than in inferior cervical spine, the soft tissue swelling will be potentially more severe [39].
Significant blood loss impacts in the overall surgical outcome and is associated with many adverse effects that includes postoperative recovery and infection rate. In fact, some studies have shown than blood loss superior to 300 ml is associated with an enhanced risk of dysphagia following ACSS [21].
Patients present with dysphagia due to alteration in swallowing mechanisms that include [25]:
Increased aspiration.
Thickening of the pharyngeal wall.
Poorer pharyngeal constriction and peristalsis.
Prolonged transit time.
Reduced hyoid displacement.
Reduced opening of the pharyngoesophageal segment opening.
Impaired epiglottic inversion
As a result of dysphagia, patients may develop other symptoms that may include:
Reflexive coughing or wet/gurgle voice during or right after swallowing.
Extra effort or time needed to chew or swallow.
Food or liquid leaking from the mouth or getting stuck in the mouth.
Recurring pneumonia or chest congestion after eating.
Persistent & severe dysphagia may result in weight loss, dehydration, risk of aspiration pneumonia, chronic lung disease and psychological problems [40].
The presence of long-standing dysphagia should raise the suspicion of esophageal perforation and thus be adamantly investigated.
Non-validated questionaries to evaluate the severity of dysphagia following ACSS include:
Depending on liquid and/or solid food difficulty swelling, they graded the severity into none, mild, moderate, and severe, as described in Table 3 [13].
Severity of dysphagia | Difficulty swallowing liquids | Difficulty swallowing solids |
---|---|---|
None | None | None |
Mild | None | Rare |
Moderate | None or rare | Occasionally (only with specific foods) |
Severe | None or rare | Frequent (majority of solids) |
Bazaz dysphagia scoring system [2].
It is a modification of Bazaz Dysphagia Score into a ten-points scale recorded daily for four days, with dysphagia being defined as a cumulative four-day score of ≥12 [30]. As seen in Table 4.
Points | Severity of dysphagia | Definition |
---|---|---|
0 | None | No episodes of difficulty swallowing |
1–3 | Mild | Only rare episodes of difficulty swallowing |
4–6 | Moderate | Occasional swallowing difficulty with solid foods |
7–10 | Severe | Swallowing difficulty with solids and liquids |
Modified Bazaz dysphagia scoring system [15]. Assessment is undertaken on the day of operation and on the first, third and fifth post-operative days; the scores are added together, with dysphagia defined as a cumulative score of ≥ 12.
Assess the postoperative dysphagia using numeric scale [31].
Includes also physical function and emotional domains [31].
Swallowing-quality of life (SWAL-QOL) questionnaire is a validated 93-item questionnaire that quantifies dysphagia on the basis of severity and duration as well as its psychological impact [32], although it is has been shown to be valid and reliable, its length and complexity make it less practical in the clinical setting.
Videoflouroscopic swallow evaluation (VSE) is a gold standard for the assessment of swallowing impairment also referred to as a modified barium swallow study [41].
The aim of treatment in postoperative dysphagia following ACSS is to maximize the food transit, minimize or prevent respiratory aspiration and related adverse effect [42].
Currently there is no specific treatment for dysphagia, as many patients with postoperative dysphagia will resolve with time. The available treatment include behavioral, postural changes, sensory input enhancement, swallowing maneuvers, voluntary control in effort exerted during swallowing and diet modification [43].
The best form of treatment is prevention, as discussed in the next section.
For persistent dysphagia that extends for more than 12–18 months, some authors recommend surgical treatment to debride the adhesion or anterior cervical instrumentation to immobilize the spine to avoid esophagus tethering and traction [44].
Many studies evaluated the techniques and recommendation to decrease the incidence of postoperative dysphasia following ACSS.
The intra-operative local application of steroids in is regarded as a preventive measure to abort the development of postoperative dysphagia. This is based on the pathogenesis, as soft tissue swelling, and local inflammation will be decrease when the steroids are used. In this respect the use of IV Methylprednisolone is recommended [45], while the local application of triamcinolone in the retropharyngeal space may decrease the incidence of dysphagia postoperatively [46].
Excessive endotracheal tube pressure may impact locally by increasing transmural pressure translating in a putative risk of soft tissue injury and dysphagia development following ACSS, Accordingly, some authors recommend decreasing the endotracheal tube pressure to 20 mmHg during the period of cervical traction [47], or the release of the endotracheal tube pressure and reinflate it after retractor placement to minimize the pressure related damage to the RLN [48].
A plate can cause postoperative dysphagia due to mass effect or induction of inflammation, plate redesign to a low profile by decreasing its thickness will endure a minimization of postoperative dysphagia [22]. Equally, the use of a zero profile cage and plate or hybrid cage has shown a smaller incidence of postoperative dysphagia [49].
The concept behind the preoperative tracheal traction exercise is to increase the compliance of the esophagus, thereby reducing the pressure required by retraction to expose an adequate operative field, the exercises were performed twice daily (15 times each time) for three days, starting four days before the operation [50].
An effort to limit the operative time should be undertaken to decrease the postoperative dysphagia. Appropriate surgical training should focus on acquiring a sound knowledge of anatomical variation of the RLN & SLN, a meticulous plan by plan surgical dissection, control of blood loss to better identify anatomical structures, avoid excessive blade retraction to reduce mechanical transmural esophageal pressure and anchoring the blades under the dissected longus coli to avoid injury to RLN and SLN [11, 48, 51].
Dysphagia following anterior cervical spine surgery is a common complication, in most cases it is mild and resolved with time, no specific treatment is required.
There are risk factors to increase the risk that include multiple levels, smoking, cervical plating, increase the operative time, revision surgeries.
The authors declare no conflict of interest.
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