Predicting caregiver stress: an ecological perspective.

The family caregiving process for children with severe emotional disorders is conceptualized from an ecological perspective and examined in light of outcomes for caregivers. This study of 259 families assessed the relative importance, individually and in combination, of various clusters of caregiver, child, family, and environmental characteristics and responses as predictors of caregiver stress. Findings raise questions about current practice and policy, and suggest directions for future research.

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).

Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for >2% of the congenitally deaf population. It is characterized by deafness in association with pigmentary anomalies and various defects of neural crest-derived tissues. At least four types are recognized (WS1, WS2, WS3 and WS4) on the basis of clinical and genetic criteria.

Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome.

Conotruncal anomaly face syndrome (CTAFS) was distinguished from velo-cardio-facial syndrome (VCFS) in a bind study, yet shared the finding of 22q11.2 deletions. This work has been extended to show that the 22q11.

Lack of linkage of apparently dominant cleft lip (palate) to two candidate chromosomal regions.

Two regions were chosen for linkage studies to cleft lip with or without cleft palate (CL[P]) because they are break points of a balanced translocation in a patient with severe bilateral facial clefting. We used dinucleotide repeats to test chromosomal regions 1q21 and 22q11.2 for such linkage.