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Pediatric Cardiology Aug 2019Tetralogy of Fallot (ToF) is one of the most common cyanotic congenital heart defects. We sought to summarize all available data regarding the epidemiology and... (Meta-Analysis)
Meta-Analysis
Tetralogy of Fallot (ToF) is one of the most common cyanotic congenital heart defects. We sought to summarize all available data regarding the epidemiology and perioperative outcomes of syndromic ToF patients. A PRISMA-compliant systematic literature review of PubMed and Cochrane Library was performed. Twelve original studies were included. The incidence of syndromic ToF was 15.3% (n = 549/3597). The most prevalent genetic syndromes were 22q11.2 deletion (47.8%; 95% CI 43.4-52.2) and trisomy 21 (41.9%; 95% CI 37.7-46.3). Complete surgical repair was performed in 75.2% of the patients (n = 161/214; 95% CI 69.0-80.1) and staged repair in 24.8% (n = 53/214; 95 CI 19.4-30.9). Relief of RVOT obstruction was performed with transannular patch in 64.7% (n = 79/122; 95% CI 55.9-72.7) of the patients, pulmonary valve-sparing technique in 17.2% (n = 21/122; 95% CI 11.5-24.9), and RV-PA conduit in 18.0% (n = 22/122; 95% CI 12.1-25.9). Pleural effusions were the most common postoperative complications (n = 28/549; 5.1%; 95% CI 3.5-7.3). Reoperations were performed in 4.4% (n = 24/549; 95% CI 2.9-6.4) of the patients. All-cause mortality rate was 9.8% (n = 51/521; 95% CI 7.5-12.7). Genetic syndromes are seen in approximately 15% of ToF patients. Long-term survival exceeds 90%, suggesting that surgical management should be dictated by anatomy regardless of genetics.
Topics: Cardiac Surgical Procedures; DiGeorge Syndrome; Down Syndrome; Female; Humans; Incidence; Infant; Infant, Newborn; Male; Postoperative Complications; Pulmonary Valve; Reoperation; Retrospective Studies; Tetralogy of Fallot; Treatment Outcome
PubMed: 31214731
DOI: 10.1007/s00246-019-02133-z -
European Child & Adolescent Psychiatry Aug 202022q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion in humans and is associated with high rates of attention deficit/hyperactivity disorder (ADHD),...
22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion in humans and is associated with high rates of attention deficit/hyperactivity disorder (ADHD), psychotic spectrum disorders and mood and anxiety disorders. The objective of the study was to systematically review studies regarding pharmacological treatments for psychiatric disorders in individuals with 22q11.2DS and to provide practical guidelines for the psychiatric management and side effect monitoring in 22q11.2DS. A literature search was conducted using the databases PubMed, PsycINFO and Embase. Information regarding study population, drug treatment, side effect profile and efficacy for each trial was extracted. Data collection was completed on May 2018. The search identified 705 studies. A total of seven studies, describing 182 individuals, were included. Pharmacological interventions included three studies for antipsychotic treatment, two studies for stimulants, one study for selective serotonin reuptake inhibitors (SSRIs), one study for S-adenosyl-L-methionine (SAMe), and one case series for metyrosine. The presented data support the clinical impression that individuals with 22q11.2DS and comorbid psychiatric disorders are treated in a manner comparable to non-22q11.2DS individuals. However, distinct medical comorbidities common in individuals with 22q11.2DS may complicate the administration of pharmacotherapy. Further trials with RCT design, larger sample sizes and more syndrome-specific pharmacological agents are needed to improve evidence-based psychiatric care of 22q11.2DS individuals with comorbid mental disorders.
Topics: Adolescent; Antipsychotic Agents; Comorbidity; DiGeorge Syndrome; Female; Humans; Male; Psychotic Disorders; Retrospective Studies
PubMed: 30949827
DOI: 10.1007/s00787-019-01326-4 -
American Journal of Medical Genetics.... Oct 2018The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans, affecting around 1:2,000 to 1: 4,000 people. 22q11DS affects multiple body...
The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans, affecting around 1:2,000 to 1: 4,000 people. 22q11DS affects multiple body systems and is associated with multiple physical problems. Given the high rate of physical morbidity associated with the 22q11DS, it was hypothesized that it would exert a high psychosocial impact on patients and their relatives. To investigate this, a systematic review of the literature and narrative synthesis was performed. Three major themes emerged. First, the complex and conflicting emotions experienced by family members resulting from the diagnosis. Second, the pervasive educational and health-care challenges associated with the diagnosis and third that people affect by 22q11DS strived for individualism. The results of this review help to inform clinical management of families with 22q11DS.
Topics: Caregivers; DiGeorge Syndrome; Emotions; Family; Female; Humans; Male
PubMed: 29575505
DOI: 10.1002/ajmg.a.38673 -
American Journal of Medical Genetics.... Aug 201822q11.2 deletion syndrome (22q11.2DS) is associated with high rates of anxiety disorders, psychotic disorders, and other psychiatric conditions. In the general...
22q11.2 deletion syndrome (22q11.2DS) is associated with high rates of anxiety disorders, psychotic disorders, and other psychiatric conditions. In the general population, psychiatric disorders are treated with proven pharmacological and non-pharmacological therapies, such as cognitive behavioral therapy (CBT). To begin to assess the feasibility and efficacy of non-pharmacological therapies in 22q11.2DS, we performed a systematic search to identify literature on non-pharmacological interventions for psychiatric disorders in individuals with 22q11.2DS. Of 1,240 individual publications up to mid-2016 initially identified, 11 met inclusion criteria. There were five literature reviews, five publications reporting original research (two originating from a single study), and one publication not fitting either category that suggested adaptations to an intervention without providing scientific evidence. None of the original research involved direct study of the evidence-based non-pharmacological therapies available for psychiatric disorders. Rather, these four studies involved computer-based or group interventions aimed at improving neuropsychological deficits that may be associated with psychiatric disorders. Although the sample sizes were relatively small (maximum 28 participants in the intervention group), these reports documented the promising feasibility of these interventions, and improvements in domains of neuropsychological functioning, including working memory, attention, and social cognition. The results of this review underline the need for research into the feasibility and efficacy of non-pharmacological treatments of psychiatric disorders in individuals with 22q11.2DS to inform clinical care, using larger samples, and optimally, standard randomized, placebo-controlled, clinical trials methodology.
Topics: Adult; Arachnodactyly; Cognitive Behavioral Therapy; Craniosynostoses; DiGeorge Syndrome; Female; Humans; Male; Marfan Syndrome; Psychotic Disorders
PubMed: 29363845
DOI: 10.1002/ajmg.a.38612 -
American Journal of Medical Genetics.... Oct 2018The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome with an estimated prevalence of 1:4,000 live births. 22q11.2DS is known to have wide...
The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome with an estimated prevalence of 1:4,000 live births. 22q11.2DS is known to have wide phenotypic variability, including orthopaedic manifestations. The purpose of this systematic review is to increase the awareness of orthopaedic manifestations associated with 22q11.2DS. This systematic review was performed according to the PRISMA Guidelines. Original epidemiological studies on the prevalence of orthopaedic manifestations within 22q11.2DS were systematically searched for in PubMed and EMBASE. The included articles were scored according to a risk-of-bias tool, a best-evidence synthesis was performed and the prevalence data was extracted. Sixty-nine published manuscripts described 58 orthopaedic manifestations in a total of 6,055 patients. The prevalence of at least one cervical or occipital anomaly is 90.5-100% (strong evidence). Fourteen studies (n = 2,264) revealed moderate evidence for a wide scoliosis prevalence of 0.6-60%. Two studies demonstrated that 5-6.4% of all 22q11.2DS patients required surgical scoliosis correction. Fifteen studies (n = 2,115) reported a 1.1-13.3% prevalence of clubfoot with moderate evidence. Other reported orthopaedic manifestations are patellar dislocation (10-20%), juvenile rheumatic arthritis (3.75%), impaired growth and skeletal anomalies like polydactyly (1.0-3.7%), syndactyly (11-11.8%), butterfly vertebrae (11.1%) and 13 ribs (2-19%). Orthopaedic findings are important manifestations of the 22q11.2DS, both in bringing patients to diagnostic attention and in requiring surveillance and appropriate intervention. Data on these manifestations are scattered and incomprehensive. Routinely screening for cervical anomalies, scoliosis, and upper and lower limb malformations is recommended in this vulnerable group of patients.
Topics: Awareness; Bone Diseases; DiGeorge Syndrome; Humans; Prevalence
PubMed: 29159873
DOI: 10.1002/ajmg.a.38545 -
The Journal of Craniofacial Surgery Jul 2017The majority of patients with 22q11.2 deletion syndrome suffer from velopharyngeal insufficiency (VPI). Patients with 22q11.2 deletion syndrome (22qDS) commonly present... (Review)
Review
INTRODUCTION
The majority of patients with 22q11.2 deletion syndrome suffer from velopharyngeal insufficiency (VPI). Patients with 22q11.2 deletion syndrome (22qDS) commonly present with a large central velopharyngeal gap in the setting of poor velar and pharyngeal wall motion. The posterior pharyngeal flap is considered the most effective technique to treat VPI in this complex patient group. This study aims to critically evaluate success rates of surgical management of VPI in 22qDS patients and discuss options for management of a failed posterior pharyngeal flap (PPF) with persistent VPI.
METHODS
A systematic review was performed through MEDLINE and Scopus to examine the outcomes of PPF surgery to treat VPI in patients with 22qDS. Complications were defined as persistent VPI, hyponasal speech, and obstructive sleep apnea. To demonstrate an approach to management, the authors outline a recent patient with a failed PPF in this patient population at the authors' institution.
RESULTS
The authors comprehensively reviewed 58 articles, 13 of which contained relevant information with extractable data. Of the 159 patients with 22qDS who underwent PPF to treat VPI, successful outcomes were reported in 135 patients (80%; range: 0%-100%). Complications were reported in 14% of patients, with need for revision operations in 3%.
DISCUSSION
Surgical management of VPI in patients with 22qDS is challenging, with variable success rates reported in the literature. If unsuccessful, the surgeon faces additional challenges with the revision surgery including a scarred PPF donor site, distorted palatal recipient site, and further medialization of internal carotid arteries. Surgical revision of a failed PPF requires meticulous preoperative planning and technical execution.
Topics: Child; DiGeorge Syndrome; Humans; Male; Pharynx; Postoperative Complications; Sleep Apnea, Obstructive; Speech; Surgical Flaps; Treatment Outcome; Velopharyngeal Insufficiency
PubMed: 28582304
DOI: 10.1097/SCS.0000000000003722 -
Clinical Otolaryngology : Official... Dec 2017Hearing loss and otitis media are frequently reported in patients with 22q11.2 deletion syndrome. (Review)
Review
BACKGROUND
Hearing loss and otitis media are frequently reported in patients with 22q11.2 deletion syndrome.
OBJECTIVE OF REVIEW
Our objective was to review the current literature on the prevalence of hearing loss and otologic manifestations in patients with 22q11.2 deletion syndrome.
TYPE OF REVIEW
Systematic review.
SEARCH STRATEGY
We conducted a systematic search in PubMed and Embase combining the term "22q11.2 deletion syndrome" and synonyms with "hearing loss" and "otologic manifestations" and synonyms.
EVALUATION METHOD
We screened title/abstract and full text of all retrieved articles on pre-defined in- and exclusion criteria. The remaining articles were assessed on risk of bias. Outcome measures included the prevalence of hearing loss and otologic manifestations such as otitis media.
RESULTS
Our search yielded 558 unique studies of which a total of 25 articles were included for critical appraisal and data extraction. Twenty-one studies reported on hearing loss, and 21 studies on otologic manifestations. The prevalence of hearing loss varied from 6.0% to 60.3%, where in most studies conductive hearing loss was most prevalent. Rates of recurrent or chronic otitis media varied from 2.2% to 89.8%.
CONCLUSION
Although a very broad range in prevalences is reported in different studies, hearing loss and recurrent or chronic otitis media are frequently present in patients with 22q11.2 deletion syndrome. Regular check-ups and audiometric testing are advised in these patients.
Topics: DiGeorge Syndrome; Ear Diseases; Hearing Loss; Humans; Prevalence
PubMed: 28322025
DOI: 10.1111/coa.12874 -
Journal of the Medical Association of... Aug 2016The prevalence of 22q11.2 deletion in patients presenting with isolated cleft palate has not been systematically assessed. (Review)
Review
BACKGROUND
The prevalence of 22q11.2 deletion in patients presenting with isolated cleft palate has not been systematically assessed.
OBJECTIVE
To assess the evidence in the literature for the prevalence of 22q11.2 deletion in patients who were presenting with isolated cleft palate.
MATERIAL AND METHOD
A systematic literature search was conducted through PubMed between 1992 and June 2016 using search terms of 22q11.2 deletion OR 22q11 deletion AND cleft palate.
RESULTS
Of the six prospective studies reported, 328 patients with isolated cleft palate had been screened with FISH (Fluorescence In Situ Hybridization) test for 22q11.2 deletion. Among the 328 patients, there was one (0.3%) patient with positive FISH test for 22q11.2 deletion. This patient was clinically assessed and did not have an associated malformation or clinically recognized syndrome.
CONCLUSION
The prevalence of 22q11.2 deletion among patients with isolated cleft palate is rather low. Of more than 400 genetic disorders involving occurrences of isolated cleft palate, FISH testing for 22q11.2 deletion in a patient with isolated cleft palate is recommended on clinical suspicion of additional clinical presentations of 22q11.2 deletion syndrome such as conotruncal congenital heart diseases, dysmorphic facies, velopharyngeal insufficiencies, immune deficiencies, hypoparathyroidisms, and neuropsychiatric disorders.
Topics: Cleft Palate; DiGeorge Syndrome; Humans; In Situ Hybridization, Fluorescence; Prevalence; Prospective Studies
PubMed: 29906081
DOI: No ID Found -
Journal of the Medical Association of... Aug 2016A birth prevalence of chromosome 22q11.2 deletion syndrome among population-based reports has been documented to vary, however, a systematic assessment is lacking. (Review)
Review
BACKGROUND
A birth prevalence of chromosome 22q11.2 deletion syndrome among population-based reports has been documented to vary, however, a systematic assessment is lacking.
OBJECTIVE
To assess the evidence in the literature for the birth prevalence of chromosome 22q11.2 deletion syndrome.
MATERIAL AND METHOD
A systematic literature search was conducted through PubMed between 1992 and June 2016 using search terms of 22q11.2 deletion OR 22q11 deletion and prevalence.
RESULTS
Of the six studies reported, there were 156 patients with 22q11.2 deletion syndrome found in total study populations of 1,111,336 live births. According to countries, the birth prevalence of this deletion syndrome (95% confidence interval) from United States, Belgium, Sweden, United Kingdom, France, and Singapore were 1.68 (1.22-2.26), 1.56 (1.33-1.72), 1.36 (0.91-2.08), 1.30 (0.45-2.15), 1.03 (0.53-2.23), and 1.02 per 10,000 live births, respectively. Estimates of minimum prevalence rates on the basis of the presence of this syndrome in cohorts of patients with cardiovascular malformations were from one in 4,000 to one in 7,092 live births.
CONCLUSION
This systematic review indicates that the 22q11.2 deletion syndrome is rather common. The findings can help physicians, health care planners and other health professionals to plan and manage better care of these patients.
Topics: DiGeorge Syndrome; Humans; Infant, Newborn; Live Birth; Prevalence
PubMed: 29906080
DOI: No ID Found -
Ultrasound in Obstetrics & Gynecology :... Apr 2016Use of recent antenatal screening guidelines for cardiac abnormalities has increased fetal diagnoses of right aortic arch (RAA). We aimed to establish the outcome of... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
Use of recent antenatal screening guidelines for cardiac abnormalities has increased fetal diagnoses of right aortic arch (RAA). We aimed to establish the outcome of fetal RAA without intracardiac abnormalities (ICA) to guide postnatal management.
METHODS
In the retrospective cohort part of our study, outcome measures were rates of chromosomal abnormalities, 22q11.2 deletion, fetal extracardiac abnormalities (ECA), postnatal ICA and ECA, and symptoms of and surgery for vascular ring. A systematic review and meta-analysis was also performed; results are reported as proportions. Kaplan-Meier analysis of vascular ring cases with surgery as endpoint was performed.
RESULTS
Our cohort included 86 cases; 41 had a vascular ring. Rates of chromosomal abnormalities, 22q11.2 deletion and fetal ECA were 14.1%, 6.4% and 17.4%, respectively. Sixteen studies including our cohort (312 fetuses) were included in the systematic review. Overall rates of chromosomal abnormalities and 22q11.2 deletion were 9.0% (95% CI, 6.0-12.5%) and 6.1% (95% CI, 3.6-9.3%), whilst the respective rates for cases with no ECA were 4.6% (95% CI, 2.3-7.8%) and 5.1% (95% CI, 2.4-8.6%). ECA were seen in 14.6% (95% CI, 10.6-19.0%) prenatally and in 4.0% (95% CI, 1.5-7.6%) after birth. Postnatal ICA were identified in 5.0% (95% CI, 2.7-7.9%). Rate of symptoms of vascular rings (follow-up ≥ 24 months postpartum) was 25.2% (95% CI, 16.6-35.0%), and 17.1% (95% CI, 9.9-25.7%) had surgery. Two-year freedom from surgery was 83.0% (95% CI, 74.3-90.1%).
CONCLUSIONS
Fetal RAA without ICA is more frequently associated with ECA than with chromosomal abnormalities. Most cases, however, are isolated. Vascular-ring symptoms occur in about 25% of cases. Postnatal surveillance is required mainly in the first 2 years after delivery.
Topics: Abnormalities, Multiple; Aorta, Thoracic; Aortic Arch Syndromes; Chromosome Aberrations; Cohort Studies; DiGeorge Syndrome; Female; Fetal Diseases; Fetal Heart; Heart Defects, Congenital; Humans; Kaplan-Meier Estimate; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 26643657
DOI: 10.1002/uog.15805