Clinical Features in Patients with 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities

2015 ◽  
Vol 52 (4) ◽  
pp. 411-416 ◽  
Author(s):  
Társis P. Vieira ◽  
Fabíola P. Monteiro ◽  
Ilária C. Sgardioli ◽  
Josiane Souza ◽  
Agnes C. Fett-Conte ◽  
...  
Keyword(s):  
Clinical Features ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome

2021 ◽  
Author(s):  
Ella Nissan ◽  
Uriel Katz ◽  
Yael Levy-Shraga ◽  
Shirly Frizinsky ◽  
Eldar Carmel ◽  
...  
Keyword(s):  
Clinical Features ◽  
22Q11.2 Deletion Syndrome ◽  
Large Cohort ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

Genetic and clinical features of social cognition in 22q11.2 deletion syndrome

2018 ◽  
Vol 96 (10) ◽  
pp. 1631-1640 ◽  
Author(s):  
Guido Maria Lattanzi ◽  
Antonino Buzzanca ◽  
Marianna Frascarelli ◽  
Fabio Di Fabio
Keyword(s):  
Social Cognition ◽  
Clinical Features ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

Clinical features of 22q11.2 deletion syndrome related to hearing and communication

2020 ◽  
Vol 140 (9) ◽  
pp. 736-740
Author(s):  
Noriomi Suzuki ◽  
Sho Kanzaki ◽  
Takafumi Suzuki ◽  
Kaoru Ogawa ◽  
Hiroyuki Yamagishi
Keyword(s):  
Clinical Features ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

scholarly journals Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing

2020 ◽  
Author(s):  
Kitiwan Rojnueangit ◽  
Thanitchet Khetkham ◽  
Preyaporn Onsod ◽  
Takol Chareonsirisuthigul
Keyword(s):  
Clinical Features ◽  
Molecular Genetic ◽  
Group Versus ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Clinical Criteria ◽  
Physical Examinations ◽  
Criteria For Diagnosis ◽  
Dependent Probe

AbstractThe 22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome with a wide variety of clinical features. However, as there are no clinical criteria for diagnosis, confirmation is solely done by genetic tests if clinicians recognize the syndrome. Therefore, we aimed to identify clinical features that may help clinicians recognize 22q11.2 DS. Participants with at least two anomalies were enrolled, complete patient history and physical examinations were performed, then multiplex ligation-dependent probe amplification (MLPA) analysis for 22q11.2 DS was utilized. We identified 11/48 (23%) cases with 22q11.2 DS. Palatal anomalies, hypocalcemia, and ≥3 affected body systems were highly significant presentations in the 22q11.2 DS group versus the group without deletion (p < 0.05). Therefore, a comprehensive physical examination is crucial at identifying any subtle features which may lead to testing and a definite diagnosis.

scholarly journals Case Report: Autoimmune Psychosis in Chromosome 22q11.2 Deletion Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Nicolás Lundahl Ciano-Petersen ◽  
Omar Hamad-Cueto ◽  
Hania Drissi-Reyes ◽  
Álvaro Doña-Díaz ◽  
Guillermina García-Martín
Keyword(s):  
Clinical Features ◽  
Autoimmune Encephalitis ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
22Q11.2 Deletion ◽  
Chromosome 22Q11.2 ◽  
Chromosome 22Q11.2 Deletion Syndrome ◽  
Autoimmune Psychosis

Chromosome 22q11.2 deletion syndrome (22q11DS) is characterized by congenital cardiac abnormalities, hypoplastic thymus, palatal abnormalities, and hypocalcemia, although other clinical features are frequent such as autoimmune and psychiatric disorders. One-third of the patients have psychotic disorders, frequently followed by developmental regression and long-term cognitive disturbances. Despite humoral and cellular immunodeficiency are common in 22q11DS, it is associated with an increased prevalence of autoimmune disorders such as idiopathic thrombocytopenic purpura and juvenile idiopathic arthritis, likely due to immune dysregulations associated with thymic abnormalities, which plays a major role in self-tolerance. We report an unique case of a 14-year-old girl with 22q11DS that presented with subacute psychotic symptoms, intolerance to antipsychotics, CSF pleocytosis, and EEG abnormalities, that was successfully treated with empiric immunotherapy after fulfilling criteria for probable seronegative autoimmune encephalitis and probable autoimmune psychosis. The autoimmune etiology of these clinical features of 22q11DS has never been postulated despite the predisposition of this syndrome to present autoimmune disorders. We suggest the systematic evaluation with serum and CSF neuronal antibodies, MRI, and EEG of patients with 22q11DS that develop subacute psychotic symptoms or rapidly progressive cognitive decline. Early immunomodulatory therapies should be carefully considered if criteria of probable autoimmune psychosis or possible autoimmune encephalitis are fulfilled, as it may prevent long-term disabilities. Further studies are required to assess the autoimmune origin of psychosis and cognitive impairment associated with 22q11DS.

Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome

2014 ◽  
Vol 164 (6) ◽  
pp. 1475-1480.e2 ◽  
Author(s):  
Caterina Cancrini ◽  
Pamela Puliafito ◽  
Maria Cristina Digilio ◽  
Annarosa Soresina ◽  
Silvana Martino ◽  
...  
Keyword(s):  
Clinical Features ◽  
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.

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