Clinical features and follow-up in patients with 22q11.2 deletion syndrome

6533b829fe1ef96bd128a5a6

RESEARCH PRODUCT

Clinical features and follow-up in patients with 22q11.2 deletion syndrome

C Cancrini P Puliafito M Digilio A Soresina S Martino R Rondelli R Consolini E Ruga F Cardinale A Finocchi Ml Romiti B Martire R Bacchetta V Albano A Carotti F Specchia D Montin E Cirillo G Cocchi A Trizzino G Bossi O Milanesi C Azzari G Corsello C Pignata A Aiuti M Pietrogrande B Marino A Ugazio A Plebani P Rossi P Pierani A Gabrielli M Danieli D De Mattia C Sisto F Dammacco G Ranieri A Pession G Ricci P Minelli V Lougaris R Badolato R Cattaneo P AiròR Mura F Cossu S Del Giacco P Manconi C Consarino A Dello Russo R Miniero E Anastasio S Marino G Russo R Paganelli D SperlìL Carpino M AricòE Gambineri F Lippi C Canessa E Maggi S Romagnani A Matucci A Vultaggio M Gattorno E Castagnola G Nigro G Presta A Civino F Buzi G Gambaretto S Fasoli C Salpietro R Gallizzi R Dellepiane C Panisi G Fabio M Carrabba M Pietrogrande M Roncarolo A Biondi C Vallinoto V Poggi G Menna R Di Nardo R Sottile G Marone G Spadaro M Carli G Basso C Putti G Semenzato C Agostini P D'angelo G Izzi P Bertolini M Zecca G Marseglia R Maccario L Felici C Favre V Vecchi P Sacchini G Rinaldi S Livadiotti A Simonetti A Stabile M Duse M Iacobini I Quinti M Fiorilli V Moschese F Cecere A D'ambrosio G De Zan S Strafella P Tamaro M Rabusin A Tommasini P Tovo M De Carli S De Carli L Nespoli M Marinoni A Porcellini C Lunardi G Patuzzo A Boner D Degani

subject

Male Pediatrics 22q11.2 deletion Delayed Diagnosis Time Factors Chromosomes Human Pair 22 Developmental Disabilities digeorge syndrome Sex Factor Severity of Illness Index Retrospective Studie DiGeorge syndrome Early Diagnosi Age Factor Prospective Studies Neonatal hypocalcemia Prospective cohort study Child medicine.diagnostic_test Delayed Diagnosi 22q11.2 deletion; Primary immune disorders Age Factors del 22q MIM Abnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease Progression Child Preschool Cohort Disease Progression Primary immune disorders Female Abnormalities Multiple Abnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease Progression; Pediatrics Perinatology and Child Health Human Adult medicine.medical_specialty Time Factor Adolescent Monitoring Developmental Disabilitie Italian Association of Pediatric Haematology and Oncology Context (language use)Risk Assessment Chromosomes Follow-Up Studie Young Adult Sex Factors Severity of illness medicine DiGeorge Syndrome Humans Abnormalities Multiple Genetic Testing 22q11DS; 22q11.2 deletion syndrome; AIEOP; Italian Association of Pediatric Haematology and Oncology; MIM; Mendelian Inheritance in Man 22q11DS Preschool Physiologic digeorge syndrome; del 22q Genetic testing Monitoring Physiologic Retrospective Studies Settore MED/38 - Pediatria Generale e Specialistica business.industry Mendelian Inheritance in Man Infant Newborn Infant Retrospective cohort study medicine.disease Newborn AIEOP Prospective Studie Early Diagnosis 22q11.2 deletion syndrome Pediatrics Perinatology and Child Health Pair 22 business Follow-Up Studies

description

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations ( P = .015) and speech disorders ( P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. Conclusions Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.

year	journal	country	edition	language
2014-06-01

10.1016/j.jpeds.2014.01.056 http://hdl.handle.net/2108/93887