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Biology (Basel) 2022 Mar 24;11(4). Epub 2022 Mar 24.

Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), 15782 Santiago de Compostela, Spain.

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). Read More

Pediatric Health Med Ther 2022 14;13:53-62. Epub 2022 Mar 14.

Division of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA.

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. Read More

JAMA 2020 10;324(15):1543-1556

Global Down Syndrome Foundation, Denver, Colorado.

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. Read More

Childs Nerv Syst 2020 11 10;36(11):2609-2614. Epub 2020 Aug 10.

Department of Pediatric Neurosurgery, Children's Hospital Colorado, University of Colorado School of Medicine, 13123 E 16th Ave, PO Box 330, Aurora, CO, 80045, USA.

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. Read More

Appl Physiol Nutr Metab 2011 Jul;36 Suppl 1:S113-53

School of Exercise Science, Physical and Health Education, University of Victoria, Victoria, BC, Canada.

Physical activity has established mental and physical health benefits, but related adverse events have not received attention. The purpose of this paper was to review the documented adverse events occurring from physical activity participation among individuals with psychological or cognitive conditions. Literature was identified through electronic database (e. Read More

Int Orthop 2006 Aug 7;30(4):284-9. Epub 2006 Mar 7.

Medical Rehabilitation Center, Surra, Kuwait.

Atlantoaxial instability (AAI) affects 10-20% of individuals with Down syndrome (DS). The condition is mostly asymptomatic and diagnosed on radiography by an enlarged anterior atlanto-odontoid distance. Symptomatic AAI, which affects 1-2% of individuals with DS, manifests with spinal cord compression. Read More

J Neurosurg 2000 Oct;93(2 Suppl):205-13

Division of Neurosurgery, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.

Object: Operative intervention for craniovertebral junction (CVJ) instability in patients with Down syndrome has become controversial, with reports of a low incidence of associated neurological dysfunction and high surgical morbidity rates. The authors analyzed their experience in light of these poor results and attempted to evaluate differences in management.

Methods: Medical and radiographic records of 36 consecutive patients with Down syndrome and CVJ abnormalities were reviewed. Read More

Arch Dis Child 1995 Feb;72(2):115-8; discussion 118-9

Ronnie MacKeith Child Development Centre, Derbyshire Royal Infirmary.

In 1986 all 90 children aged 4-19 years with Down's syndrome attending school in the area served by the Southern Derbyshire Health Authority underwent radiography to identify atlantoaxial instability (AAI). This study details repeat observations five years later. Full results were available on 67 (74%), information on health status was available on the remaining 19 (21%); four (4%) were untraced. Read More

S D J Med 1992 Oct;45(10):279-82

USD School of Medicine, Sioux Falls.

Down's syndrome is the most common autosomal chromosomal abnormality in humans and is associated with a number of well known clinical findings. Atlantoaxial instability is a less recognized, yet potentially significant, manifestation of Down's that has gained importance because of the widespread participation of Down's syndrome individuals in athletic events. Early recognition and appropriate management of patients with atlantoaxial instability can significantly reduce the morbidity and mortality associated with this condition and guide patients and their parents toward continued safe participation in athletics. Read More

Pediatrics 1992 Jun;89(6 Pt 2):1194-8

Department of Pediatrics, Rhode Island Hospital, Brown University Program in Medicine, Providence.

This study was designed to investigate the natural history of atlantoaxial instability in individuals with Down syndrome and to determine whether significant changes in C1-C2 relationship are taking place over time. Although more than 400 patients with Down syndrome who are presently followed at the Child Development Center had cervical spine radiographic examinations in the past, only 141 patients who had serial radiological examinations and whose radiographs were available for reevaluation participated in this study. The results of our investigations revealed that there were only minor changes (1 to 1. Read More

Pediatr Neurosurg 1992 ;18(1):24-33

Division of Neurological Surgery, University of Iowa Hospitals and Clinics, Iowa City 52242.

The ligamentous laxity associated with atlantoaxial subluxation has been assumed as a normal occurrence in 15-20% of Down's syndrome patients. The occipitoatlantoaxial instability that accompanies this entity has been poorly recognized. The medical records and radiographic findings of 18 symptomatic patients with Down's syndrome and cervicomedullary compromise were reviewed (1979-1991). Read More

Pediatr Radiol 1991 ;21(2):121-4

Department of Radiology and Radiological Sciences, Vanderbilt University Children's Hospital, Nashville, Tennessee.

Atlanto-occipital subluxation (AOS) in individuals with Down syndrome is discussed using five new cases and nine patients previously presented in the literature. Although AOS is likely due to ligamentous laxity, it was associated with atlantoaxial instability in only two youngsters. Reducible C1-C2 rotary subluxation was present in a third. Read More

J R Soc Med 1990 Jul;83(7):433-5

Monyhull Hospital, Kings Norton, Birmingham.

A community survey was conducted in all adults with Down syndrome living in three health districts to see if there was any correlation between radiological and neurological abnormalities which could indicate the presence of atlantoaxial instability. There was no difference in the proportion of individuals with neurological abnormalities in the group with radiological abnormalities suggestive of atlantoaxial instability (6/14) compared with individuals with normal X-rays (50/123) as determined by the chi square test (0.01463: not significant). Read More

Clin Pediatr (Phila) 1988 Sep;27(9):415-8

Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242.

A review of the radiographs of 34 individuals with Down syndrome (DS), between 5 and 21 years of age, demonstrated subluxation of atlantoaxial instability (C1-C2) greater than 5 mm in three of the 34 individuals (9 percent). This is in general agreement with previously reported ranges of 10 to 20 percent. A review of the cervical spine radiographs of adults with DS, between 26 and 42 years of age, showed no subluxation but significant degenerative changes of the cervical spine with spur formation, narrowing of foramina, narrowing of the disc inner space, and osteophyte formation. Read More

Surg Neurol 1988 Aug;30(2):153-5

Department of Neurosurgery, Tokyo Metropolitan Fuchu Hospital, Japan.

A sudden onset of quadriplegia and dyspnea occurred in a 4-year-old girl with Down's syndrome, who had been noted to have atlantoaxial dislocation. She underwent cervical immobilization initially with a halo-vest and subsequently by posterior fusion, resulting in significant functional recovery. The catastrophic myelopathy that occurred in this patient emphasizes the necessity of treatment even for asymptomatic atlantoaxial instability in some individuals with Down's syndrome. Read More

Pediatrics 1988 Jun;81(6):857-65

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

In 1984, the Committee on Sports Medicine of the American Academy of Pediatrics published in this journal a statement on the remarkably high incidence of atlantoaxial instability among individuals with Down syndrome. On the assumption that this instability, demonstrable through a specified series of lateral x-ray films of the neck, constituted a predisposition to cervical spine dislocation with subsequent spinal cord compression, the Academy supported and made more specific a series of recommendations that had originated from the Kennedy Foundation a year previously. In essence, for those persons who are found to have the radiographic sign of instability, participation in sports should be restricted. Read More

Pediatrics 1987 Oct;80(4):555-60

Child Development Center, Department of Pediatrics, Providence, RI 02902.

Atlantoaxial instability is a relatively frequent finding in individuals with Down syndrome. We examined 404 patients with this chromosome disorder and observed their atlanto-dens intervals and spinal canal widths to be significantly different from children without Down syndrome. Significant differences were also noted between boys and girls with Down syndrome in spinal canal widths but not in atlanto-dens interval measurements. Read More

J Pediatr Orthop 1984 Nov;4(6):682-8

In a prospective study 40 of 236 individuals with Down syndrome were found to have atlantoaxial instability. Whereas most of the 40 affected children were asymptomatic, seven patients exhibited various neuropathology. Historical data, neurologic findings, radiologic interpretations, and surgical management of these seven patients are described in detail. Read More

Ment Retard 1984 Aug;22(4):193-4