Should Children With Down Syndrome Be Screened for Atlantoaxial Instability?

Author(s):  
Siegfried M. Pueschel
2018 ◽  
Vol 123 (5) ◽  
pp. 387-398 ◽  
Author(s):  
Meghan E. O'Neill ◽  
Alexandra Ryan ◽  
Soyang Kwon ◽  
Helen J. Binns

Abstract 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. Data was extracted on adherence to age-specific individual guideline components for each subject by year-of-life (total 84 years-of-life). Overall adherence across all components was 83% (2001 guideline) and 67% (2011 guideline). Adherence to thyroid, hearing, vision, and developmental components was >85%, and anticipatory guidance regarding atlantoaxial instability and sexuality was <35%. Overall adherence was higher when a subject was younger and when a provider was an attending-level pediatrician.


PEDIATRICS ◽  
1990 ◽  
Vol 85 (3) ◽  
pp. 447-449
Author(s):  
Michael E. Msall ◽  
Mary E. Reese ◽  
Kathleen DiGaudio ◽  
Kim Griswold ◽  
Carl V. Granger ◽  
...  

The Canadian College of Medical Genetics recently questioned the rationale for radiographic screening for atlantoaxial instability in Down syndrome. We report a case series of four children with Down syndrome with symptomatic atlantoaxial instability and followed for more than 5 years. In all cases a medical or rehabilitational procedure was associated with significant apnea, cardiopulmonary compromise, or severe neurological impairments. None of these patients were screened radiographically. The need for protocols to detect atlantoaxial instability in children with Down syndrome undergoing medical and rehabilitational procedures is highlighted by these cases.


2016 ◽  
Vol 98-B (12) ◽  
pp. 1704-1710 ◽  
Author(s):  
N. Nakamura ◽  
Y. Inaba ◽  
Y. Aota ◽  
M. Oba ◽  
J. Machida ◽  
...  

Neurosurgery ◽  
2010 ◽  
Vol 66 (suppl_3) ◽  
pp. A32-A38 ◽  
Author(s):  
Todd C. Hankinson ◽  
Richard C.E. Anderson

Abstract CHILDREN WITH DOWN syndrome may have occipitocervical and atlantoaxial instability. To prevent neurologic injury during athletic competitions, such as the Special Olympics, radiographic cervical spine screening was established in 1983 as a prerequisite for participation in some events. This review discusses the biomechanics underlying upper cervical instability in children with Down syndrome, the evolution of cervical spine screening protocols, and current opinion regarding management for children with Down syndrome and upper cervical instability.


Spine ◽  
2014 ◽  
Vol 39 (26) ◽  
pp. E1566-E1574 ◽  
Author(s):  
Naoyuki Nakamura ◽  
Yutaka Inaba ◽  
Masatoshi Oba ◽  
Yoichi Aota ◽  
Yogen Morikawa ◽  
...  

Neurospine ◽  
2021 ◽  
Vol 18 (4) ◽  
pp. 778-785
Author(s):  
Yoshiki Takeoka ◽  
Kenichiro Kakutani ◽  
Hiroshi Miyamoto ◽  
Teppei Suzuki ◽  
Takashi Yurube ◽  
...  

Objective: To clarify the complications of posterior fusion for atlantoaxial instability (AAI) in children with Down syndrome and to discuss the significance of surgical intervention.Methods: Twenty pediatric patients with Down syndrome underwent posterior fusion for AAI between February 2000 and September 2018 (age, 6.1 ± 1.9 years). C1–2 or C1–3 fusion and occipitocervical fusion were performed in 14 and 6 patients, respectively. The past medical history, operation time, estimated blood loss (EBL), duration of Halo vest immobilization, postoperative follow-up period, and intra- and perioperative complications were examined.Results: The operation time was 257.9 ± 55.6 minutes, and the EBL was 101.6 ± 77.9 mL. Complications related to the operation occurred in 6 patients (30.0%). They included 1 major complication (5.0%): hydrocephalus at 3 months postoperatively, possibly related to an intraoperative dural tear. Other surgery-related complications included 3 cases of superficial infections, 1 case of bone graft donor site deep infection, 1 case of C2 pedicle fracture, 1 case of Halo ring dislocation, 1 case of pseudoarthrosis that required revision surgery, and 1 case of temporary neurological deficit after Halo removal at 2 months postoperatively. Complications unrelated to the operation included 2 cases of respiratory infections and 1 case of implant loosening due to a fall at 9 months postoperatively.Conclusion: The complication rate of upper cervical fusion in patients with Down syndrome remained high; however, major complications decreased substantially. Improved intra- and perioperative management facilitates successful surgical intervention for upper cervical instability in pediatric patients with Down syndrome.


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