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.

Cancrini, C., Puliafito, P., Digilio, M., Soresina, A., Martino, S., Rondelli, R., et al. (2014). Clinical features and follow-up in patients with 22q11.2 deletion syndrome. THE JOURNAL OF PEDIATRICS, 164(6), 1475.e2-1480.e2 [10.1016/j.jpeds.2014.01.056].

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

CANCRINI, CATERINA;FINOCCHI, ANDREA;ROMITI, MARIA LUISA;CAROTTI, ADRIANO;AIUTI, ALESSANDRO;ROSSI, PAOLO;Simonetti, A;MOSCHESE, VIVIANA;
2014-06-01

Abstract

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.
giu-2014
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
English
Con Impact Factor ISI
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
Cancrini, C., Puliafito, P., Digilio, M., Soresina, A., Martino, S., Rondelli, R., et al. (2014). Clinical features and follow-up in patients with 22q11.2 deletion syndrome. THE JOURNAL OF PEDIATRICS, 164(6), 1475.e2-1480.e2 [10.1016/j.jpeds.2014.01.056].
Cancrini, C; Puliafito, P; Digilio, M; Soresina, A; Martino, S; Rondelli, R; Consolini, R; Ruga, E; Cardinale, F; Finocchi, A; Romiti, Ml; Martire, B; Bacchetta, R; Albano, V; Carotti, A; Specchia, F; Montin, D; Cirillo, E; Cocchi, G; Trizzino, A; Bossi, G; Milanesi, O; Azzari, C; Corsello, G; Pignata, C; Aiuti, A; Pietrogrande, M; Marino, B; Ugazio, A; Plebani, A; Rossi, P; Pierani, P; Gabrielli, A; Danieli, M; De Mattia, D; Sisto, C; Dammacco, F; Ranieri, G; Pession, A; Ricci, G; Minelli, P; Lougaris, V; Badolato, R; Cattaneo, R; Airò, P; Mura, R; Cossu, F; Del Giacco, S; Manconi, P; Consarino, C; Dello Russo, A; Miniero, R; Anastasio, E; Marino, S; Russo, G; Paganelli, R; Sperlì, D; Carpino, L; Aricò, M; Gambineri, E; Lippi, F; Canessa, C; Maggi, E; Romagnani, S; Matucci, A; Vultaggio, A; Gattorno, M; Castagnola, E; Nigro, G; Presta, G; Civino, A; Buzi, F; Gambaretto, G; Fasoli, S; Salpietro, C; Gallizzi, R; Dellepiane, R; Panisi, C; Fabio, G; Carrabba, M; Pietrogrande, M; Roncarolo, M; Biondi, A; Vallinoto, C; Poggi, V; Menna, G; Di Nardo, R; Sottile, R; Marone, G; Spadaro, G; Carli, M; Basso, G; Putti, C; Semenzato, G; Agostini, C; D'Angelo, P; Izzi, G; Bertolini, P; Zecca, M; Marseglia, G; Maccario, R; Felici, L; Favre, C; Vecchi, V; Sacchini, P; Rinaldi, G; Livadiotti, S; Simonetti, A; Stabile, A; Duse, M; Iacobini, M; Quinti, I; Fiorilli, M; Moschese, V; Cecere, F; D'Ambrosio, A; De Zan, G; Strafella, S; Tamaro, P; Rabusin, M; Tommasini, A; Tovo, P; De Carli, M; De Carli, S; Nespoli, L; Marinoni, M; Porcellini, A; Lunardi, C; Patuzzo, G; Boner, A; Degani, D
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/142476
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