ABSTRACT
BACKGROUND: This study investigated the psychocultural perspectives concerning family quality of life among Brazilian families with children who have severe or profound intellectual disability. METHODS: Individual in-depth semi-structured interviews conducted with 15 mothers, selected by convenience, were analysed using a categorical thematic analysis technique. The themes were examined to allow for an interpretative approach of the results. RESULTS: Mothers revealed that their children with disabilities had insufficient access to services and support related to health care, transportation and recreation. Family quality of life was negatively affected by financial restrictions and social interaction difficulties. Caring for a child with disabilities seemed to be centred on the mother and religious coping appeared as a common psychological adjustment strategy. CONCLUSIONS: Improving emotional and psychological cares, as well as social and practical measures comprising income support and access to appropriate health care, were inferred to be the mothers' priorities to improve their families' quality of life.
Subject(s)
Adaptation, Psychological , Family/psychology , Health Services Accessibility , Intellectual Disability/nursing , Quality of Life/psychology , Adult , Brazil/ethnology , Child , Cross-Sectional Studies , Family/ethnology , Female , Humans , Intellectual Disability/ethnology , Male , Middle Aged , Mothers/psychology , Qualitative Research , Severity of Illness Index , Young AdultSubject(s)
Adenocarcinoma, Follicular/complications , Adenocarcinoma, Follicular/diagnosis , Williams Syndrome/complications , Williams Syndrome/diagnosis , Adenocarcinoma, Follicular/therapy , Biopsy , Chromosome Banding , Combined Modality Therapy , Humans , Male , Phenotype , Treatment Outcome , Williams Syndrome/geneticsABSTRACT
Submicroscopic chromosomal anomalies play an important role in the etiology of craniofacial malformations, including midline facial defects with hypertelorism (MFDH). MFDH is a common feature combination in several conditions, of which Frontonasal Dysplasia is the most frequently encountered manifestation; in most cases the etiology remains unknown. We identified a parent to child transmission of a 6.2 Mb interstitial deletion of chromosome region 2q36.1q36.3 by array-CGH and confirmed by FISH and microsatellite analysis. The patient and her mother both presented an MFDH phenotype although the phenotype in the mother was much milder than her daughter. Inspection of haplotype segregation within the family of 2q36.1 region suggests that the deletion arose on a chromosome derived from the maternal grandfather. Evidences based on FISH, microsatellite and array-CGH analysis point to a high frequency mosaicism for presence of a deleted region 2q36 occurring in blood of the mother. The frequency of mosaicism in other tissues could not be determined. We here suggest that the milder phenotype observed in the proband's mother can be explained by the mosaic state of the deletion. This most likely arose by an early embryonic deletion in the maternal embryo resulting in both gonadal and somatic mosaicism of two cell lines, with and without the deleted chromosome. The occurrence of gonadal mosaicism increases the recurrence risk significantly and is often either underestimated or not even taken into account in genetic counseling where new mutation is suspected.
