Variations in the sagittal plane precede the development of scoliosis: a proof of concept

2021 ◽  
Author(s):  
S de Reuver ◽  
JF Homans ◽  
TPC Schlosser ◽  
S Pasha ◽  
MC Kruyt ◽  
...  
Keyword(s):  
Idiopathic Scoliosis ◽  
Sagittal Plane ◽  
Relative Length ◽  
22Q11.2 Deletion Syndrome ◽  
Sagittal Profile ◽  
Deletion Syndrome ◽  
Power Calculation ◽  
22Q11.2 Deletion ◽  
Thoracic Scoliosis ◽  
Lumbar Scoliosis

Idiopathic scoliosis in man is believed to be related to the unique human sagittal profile. Patients with a thoracic scoliosis have a longer, more proximal, posteriorly inclined segment of the spine as compared to lumbar scoliosis and controls, whereas patients with a lumbar scoliosis have a more caudal, shorter and steeper posteriorly inclined segment. In 22q11.2 deletion syndrome, half of the patients develop a scoliosis that is very similar to idiopathic scoliosis and may serve as a model for the general population. In our center, all patients with 22q11.2 deletion syndrome older than 6 years receive standardized radiographic spine imaging every 2 years to screen for scoliosis. In this prospective proof-of-principle study the goal was to determine whether there are differences in sagittal alignment between patients that develop scoliosis vs. controls before the onset of scoliosis, and obtain data to perform a power calculation for future studies. To capture the sagittal shape of the spine into one risk factor for development for scoliosis, we combined relative length and magnitude of dorsal inclination into a new parameter: the posterior inclined triangle surface (PITS). We included 31 patients with initially straight spines, five developed a thoracic scoliosis and seven developed a (thoraco)lumbar scoliosis after a mean follow-up of 3.4 years. The PITS was considerably higher in the group that developed scoliosis as compared to the controls (59 vs 43). Based on this pilot study, we have identified a potential overall sagittal profile risk parameter for the development of idiopathic scoliosis.

scholarly journals The 22q11.2 deletion syndrome as a model for idiopathic scoliosis – A hypothesis

2019 ◽  
Vol 127 ◽  
pp. 57-62 ◽  
Author(s):  
Jelle F. Homans ◽  
Steven de Reuver ◽  
Elemi J. Breetvelt ◽  
Jacob A.S. Vorstman ◽  
Vincent F.X. Deeney ◽  
...  
Keyword(s):  
Idiopathic Scoliosis ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

Surgical Management of Patients With 22q11.2 Deletion Syndrome

2019 ◽  
Vol 4 (5) ◽  
pp. 857-869
Author(s):  
Oksana A. Jackson ◽  
Alison E. Kaye
Keyword(s):  
Surgical Management ◽  
Preoperative Evaluation ◽  
Preoperative Assessment ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Surgical Decision ◽  
Obstructive Sleep ◽  
Spine Abnormalities ◽  
Speech Assessment

Purpose The purpose of this tutorial was to describe the surgical management of palate-related abnormalities associated with 22q11.2 deletion syndrome. Craniofacial differences in 22q11.2 deletion syndrome may include overt or occult clefting of the palate and/or lip along with oropharyngeal variances that may lead to velopharyngeal dysfunction. This chapter will describe these circumstances, including incidence, diagnosis, and indications for surgical intervention. Speech assessment and imaging of the velopharyngeal system will be discussed as it relates to preoperative evaluation and surgical decision making. Important for patients with 22q11.2 deletion syndrome is appropriate preoperative screening to assess for internal carotid artery positioning, cervical spine abnormalities, and obstructive sleep apnea. Timing of surgery as well as different techniques, common complications, and outcomes will also be discussed. Conclusion Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome is challenging and requires thoughtful preoperative assessment and planning as well as a careful surgical technique.

Psychosocial Risks and Management for Children and Adolescents With 22q11.2 Deletion Syndrome

2019 ◽  
Vol 4 (4) ◽  
pp. 633-640 ◽  
Author(s):  
Canice E. Crerand ◽  
Ari N. Rabkin
Keyword(s):  
Cognitive Abilities ◽  
Psychotic Disorders ◽  
Developmental Stages ◽  
Early Adulthood ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Psychosocial Risks ◽  
Empirically Supported ◽  
Specific Education

Purpose This article reviews the psychosocial risks associated with 22q11.2 deletion syndrome, a relatively common genetic condition associated with a range of physical and psychiatric problems. Risks associated with developmental stages from infancy through adolescence and early adulthood are described, including developmental, learning, and intellectual disabilities as well as psychiatric disorders including anxiety, mood, and psychotic disorders. Other risks related to coping with health problems and related treatments are also detailed for both affected individuals and their families. Conclusion The article ends with strategies for addressing psychosocial risks including provision of condition-specific education, enhancement of social support, routine assessment of cognitive abilities, regular mental health screening, and referrals for empirically supported psychiatric and psychological treatments.

Conotruncal heart defects and aortic arch anomalies in fetuses with 22q11.2 deletion syndrome

2020 ◽  
Author(s):  
I.V. Novikova, O.M. Khurs, T.V. Demidovich et all
Keyword(s):  
Aortic Arch ◽  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Ventricular Outflow Tract ◽  
Double Outlet Right Ventricle ◽  
Interrupted Aortic Arch ◽  
Left Ventricular ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Aortic Arch Anomalies

16 second trimester fetuses with 22q11.2 deletion syndrome have been examined at anatomic-pathological investigation. Main cardiovascular diseases were ascending aorta hypoplasia with aortic valve stenosis (n = 6; 37.5%), truncus arteriosus (n = 5; 31.25%), tetralogy of Fallot (n = 3; 18.75%) and double-outlet right ventricle (n = 1; 6.25%). Ventricular septal defect was present in 16 cases. Associated aortic arch anomalies included interrupted aortic arch (n = 9; 56.25%), right aortic arch (n = 6; 37.5%), retroesophageal ring (n = 1; 6.25%) and aberrant right subclavian arteria (n = 5; 31.25%). 5 fetuses had left ventricular outflow tract obstructive lesions with interrupted aortic arch of type B combined with aberrant right subclavian arteria.

scholarly journals Toward co‐production of research in 22q11.2 deletion syndrome: Research needs from the caregiver's perspective

2020 ◽  
Vol 74 (11) ◽  
pp. 626-627
Author(s):  
Hidetaka Tamune ◽  
Yousuke Kumakura ◽  
Ryo Morishima ◽  
Akiko Kanehara ◽  
Miho Tanaka ◽  
...  
Keyword(s):  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Research Needs ◽  
22Q11.2 Deletion

Cyanosis and Clipping: Noninfectious Aneurysm in a Patient with 22q11.2 Deletion Syndrome

2021 ◽  
pp. 1-5
Author(s):  
Bhanu Jayanand Sudhir ◽  
Sanjay Honavalli Murali ◽  
Jaypalsinh Gohil ◽  
Rajalakshmi Poyuran ◽  
Manikantan Sethuraman ◽  
...  
Keyword(s):  
Heart Disease ◽  
Cerebral Aneurysms ◽  
Artery Aneurysm ◽  
22Q11.2 Deletion Syndrome ◽  
Neurological Deficits ◽  
Deletion Syndrome ◽  
Anterior Communicating Artery ◽  
Cyanotic Heart Disease ◽  
22Q11.2 Deletion ◽  
Congenital Cyanotic Heart Disease

Noninfectious cerebral aneurysms are rare in patients with congenital cyanotic heart disease. We present a patient with DiGeorge/velocardiofacial syndrome with a complex congenital cyanotic heart disease with a ruptured anterior communicating artery aneurysm. The 10-year-old child was managed by surgical clipping of the aneurysm. Surgical challenges included prominent veins in the Sylvian fissure, difficulty in differentiating arterial and venous bleed, and anesthetic risks. The patient recovered without any neurological deficits. This is the first report of a patient with 22q11.2 deletion syndrome, with a noninfectious cerebral aneurysm.

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