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Correlation ofradiographic appearance and gait in 131 children with Down's syndrome
Source publication
Clinical signs and symptoms that might predict atlantoaxial subluxation were studied prospectively in 135 of 180 children with Down's syndrome aged 6-14 years who form the Hester Adrian Research Centre cohort. Lateral radiographs of the cervical spine were taken in flexed, extended, and neutral positions, and the percentage of abnormalities in each...
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Rationale:
Traumatic AOD is rare but highly associated with upper cervical spine injuries. We found no references in the literature of traumatic posterior atlantooccipital dislocation (AOD) combined with type II dens fracture (Anderson-D'Alonzo classification) and C1 anterior arch fracture.
Patient concerns:
The first case was a 93-year-old male...
Citations
... 28,32,44,67 Although ADI ≥ 6 mm as a cutoff is relatively conservative, it has been suggested as more reliable because it accounts for the limited interrater reliability of ADI measures and accommodates the accentuated hypermobile joints in DS that may not be clinically significant in other pediatric patients. 6,28,68 SAC at the C1 level may be used to evaluate the severity of cord compression in DS patients with suspected CVJ instability and as a surrogate measure of the functional reserve of the spinal cord. SAC ≤ 14 mm is typically considered sufficient to suspect CVJ instability in children; 28 however, that value is not defined or standardized across studies. ...
Objective:
Down syndrome (DS) affects 1 in 700 live births and approximately one-third of patients develop craniovertebral junction (CVJ) instability, diagnosed by clinical examination and radiological measures such as the atlantodens interval (ADI) and space available for the cord (SAC). Patients with symptomatic CVJ instability are at increased risk for spinal cord injury. There are no guidelines for surgical management of CVJ instability in DS, the existing literature is sparse, and there is a lack of consistent pediatric data. This systematic review aimed to synthesize practice patterns of the surgical management of CVJ stability in pediatric DS patients to facilitate future standardization of care.
Methods:
Peer-reviewed studies reporting surgical management of CVJ instability in pediatric DS patients were systematically reviewed. Inclusion criteria were studies reporting primary data on patients younger than 18 years with DS, who had CVJ instability evaluation and underwent surgical treatment. Bias risk was assessed. Descriptive statistics of the independent patient data were presented. Interval variables were analyzed using the Wilcoxon rank-sum test.
Results:
Of 1056 records, 38 studies were included. Of the included patients, 169 (6%) underwent surgery. The surgical indication was symptomatic, radiologically confirmed CVJ instability in 81% of the patients, presenting with myelopathy (30%), weakness (25%), abnormal gait (24%), torticollis (15%), and neck pain (14%). A cutoff of ADI ≥ 4 mm or SAC ≤ 14 mm, cord compression, cord signal change, and anomalous bony anatomy were used in diagnosing CVJ instability. Surgical approaches focused on internal fixation with posterior occipitocervical or atlantoaxial instrumented fusion in 57% and 44% of patients, respectively. Autograft, wiring, and allograft constructs were used in 48%, 45%, and 9% of patients. Anterior cervical approaches were performed in 6% of patients. Preoperative and postoperative external orthoses were used in approximately 50% of patients. The surgical mortality rate was 3%, and the complication rate was 36%.
Conclusions:
Assessment of CVJ instability in DS is based on radiographic and clinical factors. Surgery is recommended if symptoms are present, and the procedure type depends on patient factors, degree of instability, anomalous bony anatomy, and reduction results to relieve cord compression. Most commonly, posterior instrumented fusion is used. However, further research is required to determine the strength of evaluation methods, create standardized guidelines for evaluation and surgical treatment, and investigate the long-term results of different surgical techniques.
... Musculoskeletal problems in DS are due to central hypotonia, laxity of ligaments and excessive joint mobility [29]. Autoimmune conditions and endocrine issues like hypothyroidism and osteoporosis further add to these problems. ...
Justification:
The diagnosis of Down syndrome (DS) is easily made clinically but the management is multi-disciplinary and life-long. There is no standard protocol available for its management in India.
Process:
A committee was formed under the Indian Academy of Pediatrics (IAP) chapter of Neuro developmental pediatrics consisting of 20 experts working in the related field. The various aspects of the condition were discussed and allotted to the concerned experts related for preparing the guidelines. The material received was collated to form a set of guidelines, which were reviewed by the committee, and a consensus statement made. The guidelines were then approved by the chapter, and by the IAP.
Objectives:
To define the condition and to look into the various aspects of antenatal and postnatal diagnosis. To explain briefly about the involvement of the various systems that are involved and formulate recommendations for management. To recommend early and sustained interventional therapies to enable children with DS lead an independent life.
Recommendations:
The stress on bio-psycho-social strategy for the management of children with DS is reiterated, and the need for a medical, social and rights model is recommended after each section. The age-wise recommendations are also highlighted in addition to the recommendations under each system.
... 30 A physical examination is challenging in patients with DS, and clinical predictors of instability are unreliable. 31 Radiologic assessment can also be difficult because a suboptimal radiographic technique and intellectual disability complicate positioning and compromise image quality. 20,24 The American Academy of Pediatrics only recommends screening in patients who are symptomatic because plain radiographs do not have enough accuracy in predicting spinal complications. ...
Down syndrome is the foremost common genetic cause of intellectual disability. The additional copy of chromosome 21 confers potential changes in virtually all organ systems, including the brain, neck structures, and spine. Neuroradiologists should be aware of the multitude of imaging findings in patients with Down syndrome to correctly identify and diagnose life-altering conditions associated with this syndrome. In particular, the high prevalence of age-related cognitive decline and dementia stands out more clearly in recent decades due to the notable increase in these individuals' survival. Although the early and timely diagnosis of cognitive decline in patients with varying degrees of intellectual disability has not been an easy task from the clinical point of view, anatomic and functional brain studies have shown an essential role because they allow the early recognition of abnormalities that precede the cognitive decline. Furthermore, the similarities and differences in neuropathologic, genetic, and imaging aspects in patients with Down syndrome have allowed extrapolation for a better understanding of the mechanisms linked to Alzheimer disease development.Learning Objective: To review and systematize the distinctive characteristics and abnormalities of the head and neck, vertebral column, and CNS present in Down syndrome
... 2,13,19 Given the potential for catastrophic injury in DS patients, 13 the ability to identify presymptomatic patients at risk is desirable. Although static radiographs have been used by some providers 8,14 for this purpose, Pueschel and Scola 17 and Selby et al. 18 demonstrated variable measurements for common metrics of stability among neutral, flexion, and extension films, prompting concerns regarding the value of single-view radiographs for the assessment of CCJ stability. Dynamic radiographs provide multiple views of the CCJ under physiological stress and are commonly employed to evaluate mobility of the CCJ. ...
Objective:
Hypermobility of the craniocervical junction (CCJ) in patients with Down syndrome (DS) is common. Whereas atlantoaxial (C1-2) hypermobility is well characterized, occipitoatlantal (Oc-C1) laxity is recognized but poorly defined. A clear understanding of the risks associated with DS-related hypermobility is lacking. Research efforts to address the topic of axial cervical spine instability in the patient with DS require a reliable and reproducible means of assessing CCJ mobility. The authors conducted a pilot study comparing two methods of quantifying motion of the CCJ on dynamic (flexion/extension) plain radiographs: the delta-condyle-axial interval (ΔCAI) and the delta-basion-axial interval (ΔBAI) methods.
Methods:
Dynamic radiographs from a cohort of 10 patients with DS were evaluated according to prescribed standards. Independent movement of Oc-C1, C1-2, and Oc-C2 was calculated. Interrater and intrarater reliability for CCJ mobility was then calculated for both techniques.
Results:
Measurement using the ΔCAI technique had excellent fidelity with intraclass correlation coefficients (ICCs) of 0.77, 0.71, and 0.80 for Oc-C1, C1-2, and Oc-C2, respectively. The ΔBAI technique had lower fidelity, yielding respective ICCs of 0.61, 0.65, and 0.50.
Conclusions:
This pilot study suggests that ΔCAI is a superior measurement technique compared to ΔBAI and may provide reliable assessment of the mobility of the CCJ on dynamic radiographs in the pediatric patient with DS. The use of reliable and reproducible measurement techniques strengthens the validity of research derived from pooled database efforts.
... However, most are asymptomatic, with only 1%-2% developing symptomatic instability. [24][25][26][27][28] Low correlation between radiological findings and symptoms emphasises the need for a high index of suspicion if symptoms develop. Commonly, the signs and symptoms of symptomatic C-spine instability progress over time and include neck pain, abnormal head posture, torticollis, reduced neck movements, deterioration of gait and/or frequent falls, increasing fatigability on walking or deterioration of manipulative skills. ...
... In particular C-spine X-rays in children have no predictive validity for subsequent acute dislocation/subluxation at the atlantoaxial joint. [25][26][27][28][29] In an attempt to reduce morbidity and mortality from C-spine instability, the DSMIG developed a basic surveillance essential for people with DS. They suggest that routine radiological screening for asymptomatic people with DS is not recommended. ...
Background
Musculoskeletal complications of Down syndrome (DS) are common but infrequently reported. The combination of ligamentous laxity and low muscle tone contributes to increased risk of a number of musculoskeletal disorders and a delay in acquisition of motor milestones. The primary aim of this study was to describe musculoskeletal anomalies reported in a national cohort of children with DS.
Methods
This was an observational study. Children with DS, aged 0–21 years, were invited to attend a musculoskeletal assessment clinic conducted by a paediatric physician. Relevant musculoskeletal history and clinical findings were documented.
Results
Over an 18-month period, 503 children with DS were examined (56% male). The median age was 8.1 years (0.6–19.2). Pes planus was almost universal, occurring in 91% of the cohort. A range of other musculoskeletal anomalies were observed, with inflammatory arthritis (7%) and scoliosis (4.8%) occurring most frequently after pes planus. Delay in ambulation was common; the median age to walk was 28 months (12–84).
Conclusion
Children with DS are at increased risk of a number of potentially debilitating musculoskeletal problems. These conditions can present in variable manners or be completely asymptomatic. Pes planus is common; therefore, early consideration of orthotics and lifelong appropriate supportive footwear should be considered. Delayed ambulation is frequently noted. A significant proportion of children with DS have arthritis; however, despite a high prevalence, it is often missed, leading to delayed diagnosis. An annual musculoskeletal assessment for all children with DS could potentially enable early detection of problems, allowing for timely multidisciplinary team intervention and better clinical outcomes.
... The commonly used radiological parameters of the atlas-dens interval (ADI) and the space available for the spinal cord (SAC) are associated with poor inter-and intra-observer reliability. 7 They also risk causing neuropathy because they require radiographs to be performed with the cervical spine in flexion. 8,9 In a previous study, we defined and proved the reliability of two radiological parameters that can be measured with the cervical spine in the neutral position; the C1/4 SAC ratio ( Fig. 1) and the C1 inclination angle (Figs 2 to 4), 10 and we investigated cut-off values to identify an indication for surgery. ...
Aims:
To determine the normal values and usefulness of the C1/4 space available for spinal cord (SAC) ratio and C1 inclination angle, which are new radiological parameters for assessing atlantoaxial instability in children with Down syndrome.
Patients and methods:
We recruited 272 children with Down syndrome (including 14 who underwent surgical treatment), and 141 children in the control group. All were aged between two and 11 years. The C1/4 SAC ratio, C1 inclination angle, atlas-dens interval (ADI), and SAC were measured in those with Down syndrome, and the C1/4 SAC ratio and C1 inclination angle were measured in the control group.
Results:
The mean C1/4 SAC ratio in those requiring surgery with Down syndrome, those with Down syndrome not requiring surgery and controls were 0.63 (standard deviation (sd) 0.1), 1.15 (sd 0.13) and 1.29 (sd 0.14), respectively, and the mean C1 inclination angles were -3.1° (sd 10.7°), 15.8° (sd 7.3) and 17.2° (sd 7.3), in these three groups, respectively. The mean ADI and SAC in those with Down syndrome requiring surgery and those with Down syndrome not requiring surgery were 9.8 mm (sd 2.8) and 4.3 mm (sd 1.0), and 11.1 mm (sd 2.6) and 18.5 mm (sd 2.4), respectively.
Conclusion:
The normal values of the C1/4 SAC ratio and the C1 inclination angle were found to be about 1.2° and 15º, respectively. Cite this article: Bone Joint J 2016;98-B:1704-10.
... Erst ab dem 3. Lebensjahr ist die Knochenreife so weit vorangeschritten, dass ein aussagekräftiges Röntgenbild möglich ist [74]. Röntgenbilder haben aber eine schlechtere Reliabilität [563] und Reproduzierbarkeit bei Menschen mit Down-Syndrom [104,484]. So können an einem Tag verschiedene atlantodentale Abstände gemessen werden [484]. ...
... Röntgenbilder haben aber eine schlechtere Reliabilität [563] und Reproduzierbarkeit bei Menschen mit Down-Syndrom [104,484]. So können an einem Tag verschiedene atlantodentale Abstände gemessen werden [484]. Ein Normalbefund heißt jedoch nicht, dass das Kind später keine AAI entwickeln kann [77,369], dies gibt eine falsche Sicherheit. ...
... Ein Normalbefund heißt jedoch nicht, dass das Kind später keine AAI entwickeln kann [77,369], dies gibt eine falsche Sicherheit. Auch bei einer pathologischen Röntgenaufnahme kann man nicht vorhersagen, welches Kind eine Myelopathie entwickeln wird und welches nicht [77,104,369,484]. Aus diesen Gründen wird eine routinemäßige radiologische Untersuchung des asymptomatischen Kindes nicht empfohlen ([74] DSMIG 12). ...
24 Fachgesellschaften und Berufsverbände legen gemeinsam mit einer Selbsthilfeorganisation unter dem Dach der Deutschen Gesellschaft für Kinder- und Jugendmedizin eine S2k-AWMF-Leitlinie zur Diagnostik, Therapie und Entwicklungsförderung von Menschen mit Down-Syndrom im Kindes-und Jugendalter vor. 40 Autorinnen und Autoren geben in 23 Kapiteln 82 Konsens-Empfehlungen ab, die auf den Ergebnissen von knapp 600 aktuellen Studien basieren.
... A rise of interest on AAI was noted in 1984, when the American Academy of Pediatrics Sports Committee supported the initiative of the Special Olympics Committee regarding the necessity of performing radiological examinations on children with DS. The aim was to prevent potential spinal cord injuries during sports and recreational activities (American Academy of Pediatrics, 1984;Msall et al., 1990;Selby et al., 1991). The rules of the Special Olympics require every athlete to undergo radiological examination. ...
... At the same time, the American Academy of Pediatrics (1984) suggested to set the upper limit of the AAOD at 4.5 mm. The very same criterion was suggested by Selby et al. (1991). Another group of researchers defined instability by the AAOD of 5 mm or more (Alvarez and Rubin, 1986;Pueschel et al., 1984Pueschel et al., , 1987Smith, 2001). ...
... Seemingly minor differences between measurements (± 0.5 mm) are significant for people with DS who participate in sports and recreational activities. At the same time, as suggested by Selby et al. (1991), the credibility of X-ray examination measurements remains questionable. Selby and colleagues (1991) repeated the measurements of their patients after 10 minutes and again after three weeks from the first measurement. ...
Atlanto-axial instability (AAI) is a developmental anomaly often occurring in persons with Down’s syndrome (DS). According to various reports, AAI affects from 6.8 to 27% of the population with DS. The aim of this review was to illustrate the issue of AAI with regard to the progressively changing state of scientific knowledge. The extended distance between the rear surface of the frontal arcus of the C1 cervical vertebra and the anterior surface of C2 cervical vertebra dens (anterior atlanto-odontoid distance, AAOD) indicates the occurrence of AAI and is detectable through X-ray examination. Hypoplasia of the C2 dens, also detectable through X-ray examination, is another suggested risk factor for AAI. According to current data, the methodology of taking measurements is inconsistent, which leads to errors in interpretation. As research focusing on AAI was progressing, new data emerged from other studies on persons with DS, suggesting that neurological symptoms in persons with DS that indicated the occurrence of spinal cord compression were an important factor in medical imaging detection of AAI. One of the main arguments supporting this thesis is that in isolated cases spinal cord (SC) damage was noted during screening examinations conducted on a large population of subjects. Moreover, cases in which the neurological symptoms indicate spinal cord compression existed long before the occurrence of the actual damage also remain of significant importance. Therefore, it is necessary to promote neurological studies on persons with DS to enable early diagnosis of spinal cord compression and, at the same time, reduce the use of medical imaging in cases of neurological symptoms.
... there is no agreement in the literature to recommend whether every DS patient should be screened radiologically before an anesthetic/surgical procedure [71,72]. ...
Down syndrome (DS) Children are more liable for frequent sedation and anesthesia either for imaging procedure or for surgical intervention. They have many risk factors that increase the anesthesia related complications. These risk factors include cardiac, esophageal, gastrointestinal or urinary tracts, eyes, ears, and joints anomalies. There is also an increased risk of infection due to immune deficiency. Proper preoperative, operative and post operative management are mandatory to decrease the anesthesia-related complications. In this chapter; these co morbidities and the factors that increase the risk of complications during anesthesia will be addressed, as well as pre-operative, intraoperative and post-operative management will be discussed.
... This can occur even if preoperative flexion-extension x-ray results are normal, rendering preoperative acquisition of such x-rays unnecessary. 14 ...
Lingual tonsillectomy and midline posterior glossectomy are useful in children with persistent obstructive sleep apnea following tonsillectomy and adenoidectomy who do not tolerate positive airway pressure ventilation. These techniques involve removing tissue from the surface (lingual tonsil) or base (midline posterior glossectomy) of the tongue to decrease bulk in the oropharynx. The aim of this review is to delineate the preoperative evaluation and intraoperative considerations of lingual tonsillectomy and midline posterior glossectomy in children.
