Suchergebnisse

This study explores how the first wave of the COVID-19 pandemic influenced family routines, relationships and technology use (smartphones and tablet computers) among families with infants. Infancy is known to be an important period for attachment security and future child development, and a time of being susceptible to changes within and outside of the family unit. A qualitative design using convenience sampling was employed. A total of 30 mothers in Perth, Western Australia participated in semi-structured interviews by audio or video call. All mothers were parents of infants aged 9 to 15 months old. Interviews were audio-recorded and transcribed, and data were analysed using thematic analysis to code and identify themes in an inductive manner. Families described staying home and stopping all external activities. Three themes relating to family interactions and wellbeing were found: enhanced family relationships; prompted reflection on family schedules; and increased parental stress. Two themes related to family device use were found: enabled connections to be maintained; and source of disrupted interactions within the family unit. Overall, participants described more advantages than downsides of device use during COVID-19. Findings will be of value in providing useful information for families, health professionals and government advisors for use during future pandemic-related restrictions.

This study explores how the first wave of the COVID‐19 pandemic influenced family routines, relationships and technology use (smartphones and tablet computers) among families with infants. Infancy is known to be an important period for attachment security and future child development, and a time of being susceptible to changes within and outside of the family unit. A qualitative design using convenience sampling was employed. A total of 30 mothers in Perth, Western Australia participated in semi‐structured interviews by audio or video call. All mothers were parents of infants aged 9 to 15 months old. Interviews were audio‐recorded and transcribed, and data were analysed using thematic analysis to code and identify themes in an inductive manner. Families described staying home and stopping all external activities. Three themes relating to family interactions and wellbeing were found: enhanced family relationships; prompted reflection on family schedules; and increased parental stress. Two themes related to family device use were found: enabled connections to be maintained; and source of disrupted interactions within the family unit. Overall, participants described more advantages than downsides of device use during COVID‐19. Findings will be of value in providing useful information for families, health professionals and government advisors for use during future pandemic‐related restrictions.

BACKGROUND: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. METHODS AND RESULTS: Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations. CONCLUSIONS: This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols. ; The Government of Canada through Genome Canada, the Canadian Institutes of Health Research (CIHR) and the Ontario Genomics Institute (OGI-049), by Genome Québec and Genome British Columbia, and the Manton Center for Orphan Disease Research at Children's Hospital Boston. KMB is supported by a Clinical Investigatorship Award from the CIHR Institute of Genetics. AD is supported by NIH grant K23HD073351. BBAdV and HGB were financially supported by the AnEUploidy project (LSHG-CT-2006-37627). Canada Steering Committee, which consists of K. Boycott (University of Ottawa), J. Friedman (University of British Columbia), J. Michaud (University of Montreal), F. Bernier (University of Calgary), M. Brudno (University of Toronto), B. Fernandez (Memorial University), B. Knoppers ...