Collecting pedigree information in an epidemiological context

A method has been developed which documents consanguineous relationships in any population. Results from data collected from patients registered in the Congenital Heart Disease Registry at KFSH&RC, Riyadh, Saudi Arabia show an expected number of parents who described a pattern of relationship consistent with a first cousin relationship but fewer numbers of 'other related' than previously reported in the literature. Further studies are in preparation

The pattern of Down syndrome among children in Qatar: A population-based study

BACKGROUND:,The objective of the present study was to determine the prevalence pattern of Down Syndrome (DS) in children < 5 years of age in the State of Qatar. This is a retrospective descriptive study. The study was conducted in the Hamad General Hospital, Women's Hospital, and Rumailah Hospital (Hamad Medical Corporation). A total of 146 children were reported as having DS during the 6-year period from I January 2000 to December 31, 2005. METHODS: The diagnostic classification of definitive DS was made in accordance with criteria based on the International Classification of Disease 10th Revision (ICD-10). The data collected from the medical records included sociodemographic characteristics of the children, genetic and family history, pedigree analysis, and clinical genetic examination. RESULTS: A total of 146 children were diagnosed with DS during the last 6-year period and the prevalence rate is 19.5 per 10,000 live births. Of these, 40.4% were Qataris and 59.6% were non-Qataris. DS was slightly more common in boys (52.7%) than girls (47.3%). Infants < 1 year old had the high. est frequency of DS (40.4%), followed by children (1-2) years (26%). The most common abnormality was regular trisomy (98%). Also, one-half of the studied children had congenital heart problems (51.7%), There is a significant relationship between DS and maternal age as reported by other studies in other countries. CONCLUSION: The identification of specific types of chromosomal abnormalities in DS children is important as it enables clinicians to accurately counsel the parent regarding the recurrence risk and available options

Concerns and considerations among caregivers of a child with autism in Qatar

Abstract Background Autism impacts the lives of the family looking after a child with the condition in different ways, and forces family members to modify their daily lives to suit their reality. To our knowledge, no previous research investigated concern and considerations of parents/caregivers of children with autism in Qatar or the Arabic speaking Middle Eastern region. Methods Caregivers of a child who was between the age of 3 to17 years old at the time of the study and who was diagnosed with ASD (Autistic Group or AG) were recruited from the two main developmental pediatric and children rehabilitation clinics in Qatar. The control group (non-autism group, or NAG) was represented by caregivers of a non-autistic child between the age of 3 to 17 years old at the time of the study and who were visiting a family clinic of a primary health care facility for routine medical check-up. Data collected from both groups included related to the child (e.g. the child’s date of birth, his/her relation to the caregiver, number of siblings, number of hours of sleep in a day, number of hours spent watching television or videos prior to age 3, time spent indoors prior to age 3, absenteeism from school, and use of a nanny to care for the child) and to the caregiver (education level, profession, level of consanguinity using the phylogram method). In addition to these questions, caregivers in the AG were asked specific questions around maternal concern and considerations in respect to the future of their children and the specialized services they receive. Results Children in the autism group spent more time indoors, watching television, or sleeping than children in the non-autism group. Only around 40% of caregivers in the autism group said they would encourage their child to get married and become a parent when s/he grows up. A number of caregivers of children with autism frequently utilize specialized rehabilitation services; others did express their needs for these services and made comments about having to wait a long time before they were provided with some of the services. Religious faith helped caregivers in accepting having a child with autism. General health-related quality of life did not differ significantly between the caregivers of the two groups, although mental health was consistently poorer in the autism group of caregivers. Conclusions The study draws attention to the concerns of the families of children with autism and their expectations about the future of their children. The findings can be used by policy makers in planning services to support these families in Qatar.</p