phenylephrine-hydrochloride and DiGeorge-Syndrome

Otorhinolaryngologic manifestations are common in 22q11.2 deletion syndrome (22q11.2DS), but poorly described. This study aimed to better define the ear-nose-throat (ENT) phenotype of 22q11.2DS patients, in the attempt to best detect subjects requiring subspecialist intervention. We enrolled 25 patients affected with 22q11.2DS. Anatomic and functional ENT findings were investigated using clinical, laboratory, and instrumental data. Immunophenotype and frequency of infections were evaluated. Univariate and multivariate analyses were performed. ENT anomalies were found in 88% of patients, and in 20% congenital palate defects required surgery. Adenoid or palatine tonsil hypertrophy was noted in 80% and 48%. Forty-eight percent of subjects had rhinolalia/phonia, severe in half of these. We also found nasal regurgitation or laryngeal penetration/aspiration in 20% and 16%, respectively. Instrumental exams revealed a mild conductive hearing loss in 32% (bilateral in most cases), tympanometric anomalies in 28%, and swallowing abnormalities in 16%. Statistical univariate analysis showed a direct association between rhinolalia/phonia and episodes of laryngeal aspiration (p = .016) and between tympanometric anomalies and increased adenoid volume (p = .044). No association between episodes of food aspiration and palatal anomalies was found. Moreover, no statistically significant association was observed between the number of airway infections and the ENT findings. This study contributes to better define the ENT phenotype in patients with 22q11.2DS, helpful to prevent potential complications. Furthermore, the identification of a subcategory of patients may allow the early adoption of specific speech therapy programs to improve the clinical outcome of 22q11.2DS patients.

Topics: Adolescent; Child; Child, Preschool; DiGeorge Syndrome; Ear; Female; Humans; Male; Nose; Pharynx; Phenotype; Prospective Studies; Young Adult

Hypernasality in velocardiofacial syndrome (VCFS) is more severe, persistent, and difficult to manage compared to other populations with cleft palate or velopharyngeal (VP) dysfunction. This pilot study investigated why children with VCFS have more severe hypernasality.. Pressure-flow methodology indirectly measured VP orifice size and VP closure timing during speech in a group of 5 children with VCFS, 5 children with cleft palate, and 6 normal children.. Children with VCFS demonstrated significant differences in VP closure timing and hypernasality. There were no significant group differences in VP orifice size. Duration of nasal airflow was the strongest predictor of judgments of hypernasality.. This study provides preliminary evidence that VP closure timing may account for the more severe hypernasality in children with VCFS, compared to structural factors alone.

Topics: Air Pressure; Child; Cleft Palate; DiGeorge Syndrome; Female; Humans; Linear Models; Male; Nose; Pilot Projects; Sound Spectrography; Speech; Speech Production Measurement; Transducers, Pressure; Velopharyngeal Sphincter; Voice Disorders; Voice Quality

DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11. We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.

Topics: Abnormalities, Multiple; Child; Child, Preschool; Chromosomes, Human, Pair 22; Cleft Palate; DiGeorge Syndrome; Ear, External; Face; Female; Genetic Variation; Heart Defects, Congenital; Humans; Hypocalcemia; Infant; Male; Nose; Phenotype; Terminology as Topic; Thymus Gland