Congenital aural atresia in 18q deletion or de Grouchy syndrome.

OBJECTIVE: To study the occurrence of congenital aural atresia in patients with a deletion of the long arm of chromosome 18 (18q- deletion or de Grouchy syndrome). STUDY DESIGN AND PATIENTS: This retrospective study presents an overview of the otologic findings in 33 Dutch and Belgian patients with a deletion of 18q. MATERIALS AND METHODS: Detailed information on otorhinolaryngological findings was obtained from otorhinolaryngologists and audiologic centers. Data about medical and developmental history and phenotype were collected from physical examination by a clinical geneticist, by interviewing parents, and by reviewing medical and developmental records. Determination of deletion breakpoints was established by routine karyotyping, prometaphase studies, and/or fluorescence in-situ hybridization (FISH). RESULTS: Twenty out of 33 patients (61%) with a deletion 18q had congenital aural atresia (CAA) ranging from narrow external auditory canals to meatal atresia type IIB. Fifteen patients (45%) had conductive hearing impairment (range: 30 dB-70 dB). Twelve of these 15 patients (80%) received hearing aids, which resulted in improved hearing but not in speech development. CAA was found only in patients with a distal deletion of 18q (including band 18q22.3 or 18q23) and not in patients with more proximal 18q deletions. CONCLUSION: In patients with narrow ear canals or meatal atresia and unexplained mental retardation, chromosomal analysis is indicated. If de Grouchy syndrome is diagnosed in a young patient, auditory examination and surveillance are highly recommended.

The Servant Leadership Survey: Development and Validation of a Multidimensional Measure.

PURPOSE: The purpose of this paper is to describe the development and validation of a multi-dimensional instrument to measure servant leadership. DESIGN/METHODOLOGY/APPROACH: Based on an extensive literature review and expert judgment, 99 items were formulated. In three steps, using eight samples totaling 1571 persons from The Netherlands and the UK with a diverse occupational background, a combined exploratory and confirmatory factor analysis approach was used. This was followed by an analysis of the criterion-related validity. FINDINGS: The final result is an eight-dimensional measure of 30 items: the eight dimensions being: standing back, forgiveness, courage, empowerment, accountability, authenticity, humility, and stewardship. The internal consistency of the subscales is good. The results show that the Servant Leadership Survey (SLS) has convergent validity with other leadership measures, and also adds unique elements to the leadership field. Evidence for criterion-related validity came from studies relating the eight dimensions to well-being and performance. IMPLICATIONS: With this survey, a valid and reliable instrument to measure the essential elements of servant leadership has been introduced. ORIGINALITY/VALUE: The SLS is the first measure where the underlying factor structure was developed and confirmed across several field studies in two countries. It can be used in future studies to test the underlying premises of servant leadership theory. The SLS provides a clear picture of the key servant leadership qualities and shows where improvements can be made on the individual and organizational level; as such, it may also offer a valuable starting point for training and leadership development.

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

Deletions of the long arm of chromosome 18 occur in approximately 1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in approximately 66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA, of whom 18 had microscopically visible 18q deletions. The extent and nature of the chromosome-18 deletions were studied in detail by array-based comparative genomic hybridization (arrayCGH). High-resolution chromosome-18 profiles were obtained for all patients, and a critical region of 5 Mb that was deleted in all patients with CAA could be defined on 18q22.3-18q23. Therefore, this region can be considered as a candidate region for aural atresia. The array-based high-resolution copy-number screening enabled a refined cytogenetic diagnosis in 12 patients. Our approach appeared to be applicable to the detection of genetic mosaicisms and, in particular, to a detailed delineation of ring chromosomes. This study clearly demonstrates the power of the arrayCGH technology in high-resolution molecular karyotyping. Deletion and amplification mapping can now be performed at the submicroscopic level and will allow high-throughput definition of genomic regions harboring disease genes.