Morphometric analysis of atlas lateral mass in Down syndrome cases with relevance to surgical intervention.

Purpose: Surgical stabilization of the Atlas vertebrae is indicated for severe atlantoaxial instability (AAI) in patients with Down syndrome (DS). This study aims to evaluate the morphological characteristics of the Atlas lateral mass (ALM) in patients with DS with regard to safe instrumentation for surgical stabilization and to compare them with non-syndromic group.

Methods: This multicenter, retrospective, case-control study included age- and sex-matched patients with and without DS aged > 7 years with a cervical computed tomography (CT) scan.

Neurovascular considerations in patients with Down syndrome and moyamoya syndrome.

In this article, we describe a rare and complex case of moyamoya syndrome in a 7-year-old boy with Down syndrome and atlantoaxial subluxation. The patient presented with an ischemic stroke in the left hemisphere and cervical cord compression with increased cord edema. Diagnostic digital subtraction angiography revealed unique patterns of vascular involvement, with retrograde flow through the anterior spinal artery, ascending cervical artery, occipital artery, and multiple leptomeningeal arteries compensating for bilateral vertebral artery occlusion.

Evaluating Airway Management in Patients With Trisomy 21 in the PICU and Cardiac ICU: A Retrospective Cohort Study.

Objectives: Children with trisomy 21 often have anatomic and physiologic features that may complicate tracheal intubation (TI). TI in critically ill children with trisomy 21 is not well described. We hypothesize that in children with trisomy 21, TI is associated with greater odds of adverse airway outcomes (AAOs), including TI-associated events (TIAEs), and peri-intubation hypoxemia (defined as > 20% decrease in pulse oximetry saturation [Sp o2 ]).

Surgical treatment of craniovertebral junction instability in children with Down syndrome: a systematic review.

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.

Psychosocial aspects of sports medicine in pediatric athletes: Current concepts in the 21 century.

Behavioral aspects of organized sports activity for pediatric athletes are considered in a world consumed with winning at all costs. In the first part of this treatise, we deal with a number of themes faced by our children in their sports play. These concepts include the lure of sports, sports attrition, the mental health of pediatric athletes (i.

Cranial-Vertebral-Maxillary Morphological Integration in Down Syndrome.

Background: Morphological integration refers to the tendency of anatomical structures to show correlated variations because they develop in response to shared developmental processes or function in concert with other structures. The objective of this study was to determine the relationships between the dimensions of different cranial-cervical-facial structures in patients with Down syndrome (DS). Methodology: The study group consisted of 41 individuals with DS who had undergone cone-beam computed tomography (CBCT) at the Dental Radiology Unit of the University of Santiago de Compostela (Spain).

C2 translaminar screw fixation in pediatric occipitocervical fusion.

Purpose: Rigid occipitocervical (O-C) instrumentation can reduce the anterior pathology and has a high fusion rate in children with craniovertebral instability. Typically, axis (C2) screw fixation utilizes C1-C2 transarticular screws or C2 pars screws. However, anatomic variation may preclude these screw types due to the size of fixation elements or by placing the vertebral artery at risk for injury.

Down Syndrome-Associated Arthritis (DA): Diagnostic and Management Challenges.

Down syndrome (DS) is one of the most common birth defects in the United States, the most common genomic disorder of intellectual disability, and results from trisomy 21. This chromosome disorder causes an extensive, heterogenous phenotype that results in a broad presentation of symptoms that includes atlantoaxial instability, congenital heart defects, muscle hypotonia, hypothyroidism, hematologic disorders, recurrent infections, and autoimmune diseases. The autoimmune diseases are caused by immune system dysregulation that results in increased pro-inflammatory cytokines, along with other innate and adaptive immune system dysregulation.

Feasibility and Safety of Goel-Harms Posterior C1-C2 Fusion in the Management of Pediatric Reducible Atlantoaxial Instability.

Background: Pediatric atlantoaxial instability (AAI) is not common and could be a serious clinical condition. The Goel-Harms technique is one of the most used techniques in adults and needs more evaluation in pediatric populations. This study reports the feasibility and safety of the Goel-Harms technique in the treatment of pediatric reducible AAI.

Repeat Pediatric Trisomy 21 Radiographic Exam: Does Atlantoaxial Instability Develop Over Time?

Background: Atlantoaxial instability (AAI) is common in pediatric patients with Trisomy 21 and can lead to spinal cord injury during sports, trauma, or anesthetized neck manipulation. Children with Trisomy 21 therefore commonly undergo radiographic cervical spine screening, but recommendations on age and timing vary. The purpose of this study was to determine if instability develops over time.

Refractory Syncope and Presyncope Associated with Atlantoaxial Instability: Preliminary Evidence of Improvement Following Surgical Stabilization.

Background: The proclivity to atlantoaxial instability (AAI) has been widely reported for conditions such as rheumatoid arthritis and Down syndrome. Similarly, we have found a higher than expected incidence of AAI in hereditary connective tissue disorders. We demonstrate a strong association of AAI with manifestations of dysautonomia, in particular syncope and lightheadedness, and make preliminary observations as to the salutary effect of surgical stabilization of the atlantoaxial motion segment.

Medical Care of Adults With Down Syndrome: A Clinical Guideline.

Importance: Down syndrome is the most common chromosomal condition, and average life expectancy has increased substantially, from 25 years in 1983 to 60 years in 2020. Despite the unique clinical comorbidities among adults with Down syndrome, there are no clinical guidelines for the care of these patients.

Objective: To develop an evidence-based clinical practice guideline for adults with Down syndrome.

Usefulness of ipsilateral translaminar C2 screws insertion for cervical fixation in children with a low laminar profile: a technical note.

Purpose: The fusion of the upper cervical spine in children is demanding due to its reduced size, its anatomical complexity, or a severe pathology of the cranio-cervical junction. In some pediatric patients with today's more popular C1-C2 or, occipito-C2 techniques, it is impossible, or very risky to perform a short upper cervical fixation.

Methods: We present the utility and good results of ipsilateral laminar C2 screws insertion technique in two pediatric cases with low C2 laminar profile.

Evaluation of 2011 AAP cervical spine screening guidelines for children with Down Syndrome.

Purpose: Atlantoaxial instability (AAI) has a higher incidence rate among individuals with Down syndrome (DS) than the non-DS population. In 2011, the American Academy of Pediatrics (AAP) updated its AAI screening guidelines for children with DS from radiographic screening to radiographs only if there are clinical symptoms suggestive of cervical spine pathology. An assessment of whether this alteration has been associated with an increase in AAI-associated spinal cord injury has not been undertaken.

Rare Presentation: A Report of 2 Identical Cases with Thoracic Compressive Myelopathy in Down Syndrome.

Background: Atlantoaxial instability, a common finding in patients with Down syndrome (DS), is attributed to laxity of ligamentous structures. Cervical spondylosis identified in these patients has a pathogenesis of ligament laxity and early degeneration compared with the normal population. No cases have been reported showing affection of thoracic or lower levels.

Atlantoaxial dislocation due to os odontoideum in patients with Down's syndrome: literature review and case reports.

Purpose: To clarify etiology, clinical features, and diagnostic and treatment options of atlantoaxial dislocation (AAD) due to os odontoideum (OsO) in patients with Down's syndrome (DS).

Methods: We described and analyzed three clinical cases of AAD due to OsO in DS patients and reviewed descriptions of similar cases in the scientific sources.

Results: According to literature review, more than 80% of DS patients with odontoid ossicles had atlantoaxial instability (AAI).

Extraforaminal Vertebral Artery Until C2 Transverse Foramen in Down Syndrome Patient Affected by Atlantoaxial Subluxation: First Observation and Review of Literature.

Background: Patients with Down syndrome (DS) have an increased incidence of multisystem disorders, like cardiovascular, neurologic, gastrointestinal, respiratory, and musculoskeletal disorders. Craniovertebral junction instability is a common illness in DS patients, and they may often be affected by vertebral artery (VA) anomalies.

Case Description: In this paper we present neuroradiologic findings of a 34-year-old female patient affected by DS with atlantoaxial subluxation, scheduled for transoral decompression of C1-C2 and posterior occipitocervical fixation.

Spontaneous atlanto-axial dislocation and trisomy 21: causal factors and management.

Spontaneous atlanto-axial (C1-C2) dislocation is an atlanto-axial instability, found in 10 to 30% of trisomy 21 patients, the majority of whom is asymptomatic. We report a case of a 21 years-old woman, with trisomy 21, admitted in our department presenting a spinal cord compression syndrome with right hemiparesis associated with a cervicalgia evolving for 3 months of admission without trauma. Standard cervical radiography showed a C1-C2 dislocation with posterior displacement of the odontoid process.

Dynamic MRI in the Evaluation of Atlantoaxial Stability in Pediatric Down Syndrome Patients.

Background/aims: Down syndrome is the most common inherited disorder. Some patients develop atlantoaxial instability. Existing screening guidelines were developed prior to availability of MRI.

Iatrogenic neurological injury in children with trisomy 21.

Purpose: Children with trisomy 21 are at a greater risk for craniocervical junction instability than the general population. These children frequently require administration of anesthesia due to surgical (including otolaryngological) interventions and are at risk for neurological injury. We reviewed the current literature describing iatrogenic neurological injury in children with trisomy 21 undergoing anesthesia in order to facilitate the development of safety recommendations.

Cervical instability in patients with Trisomy 21: The eternal gamble.

Patients with Trisomy 21 are particularly at risk of cervical instability due to ligamentous laxity and osseous abnormalities. Up to 30% of Trisomy 21 patients are affected by atlanto-axial or atlanto-occipital instability, but only 1%-2% of cases are symptomatic. The radiologic assessment of cervical instability is not unanimously considered mandatory.

Evaluation of Pediatrician Adherence to the American Academy of Pediatrics Health Supervision Guidelines for Down Syndrome.

The American Academy of Pediatrics's guideline on health supervision for children with Down syndrome (DS) offers pediatricians guidance to improve detection of comorbid conditions. Pediatrician adherence has not yet been comprehensively evaluated. Medical records of 31 children with DS who received primary care at two urban academic clinic sites from 2008-2012 were reviewed.

Sport Preparticipation Screening for Asymptomatic Atlantoaxial Instability in Patients With Down Syndrome.

Down syndrome (DS) is a clinical syndrome comprising typical facial features and various physical and intellectual disabilities due to extra genetic material on chromosome 21, with one in every 1000 babies born in the United Kingdom affected. Patients with Down syndrome are at risk of atlantoaxial instability (AAI). Although AAI can occur in other conditions, such as rheumatoid arthritis, this position statement deals specifically with patients with DS and asymptomatic AAI.