Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Clinical and molecular characterization of neuro-genetic disorders among UAE national patients seen in the Genetic Clinic at Tawam hospital over a period of 3 years. A retrospective chart review of all Emirati patients assessed by clinical geneticists due to neuro-genetic disorders including global developmental delay, ASD, ID, ADHD, and epilepsy in combination with abnormalities of other organ systems. Each patient had proper assessment including detailed history, three-generation family history, developmental history and detailed physical examination looking for other system involvement. Hearing test and ophthalmological examination were performed when needed. Magnetic resonance imaging (MRI) of the brain, echocardiogram, and renal ultrasound were pursued as indicated. Detailed psychological evaluation and psychometric assessment were done when indicated. The review was done for a period between January 2018 and December 2020. Genetic investigations included chromosome karyotype, FISH study, metabolic/biochemical tests, chromosome microarray, gene sequencing, targeted mutation testing, trio whole exome and trio genome sequencing. A total of 644 patients with developmental delay, ID, learning difficulty, ASD, ADHD, or NNDs, were seen in genetic clinic from January 2018 to December 2020. A total of 506 patients were included in this review, all completed the genetic evaluations during the study period. There were 398 (61.8%) males and 246 (38.2%) females, with a ratio of 1.6:1. Positive family history of NDD was documented in 132 families, while 115 families had negative history and family history was unknown/unclear in the remaining. Fifty seven (11.26% [57/506]) patients had positive microarray results. Hundred ninety seven (38.9% [197/506]) patients had positive molecular testing. Genetic disorders were found in 133 (67.5% [133/197]) and inborn errors of metabolism were found in 42 (21.3% [42/197]). Consanguinity was documented in 139 patients with positive molecular diagnoses (139/197, 70.5%). Sixty nine (35% [69/197]) patients had autosomal dominant disorders, majority were De Novo (84%). Ninety-five (48% [95/197]) patients had autosomal recessive diseases, 40 mutations involved inborn errors of metabolism and 50 mutations involved genetic disorders. Pathogenic variants causing both autosomal dominant and recessive disorders were found in 98 patients (49.7% [98/197]), likely pathogenic variants causing both autosomal dominant and recessive disorders were found in 66 patients (33.5% [66/197]). X-linked related disorders were found in 10 patients (5% [10/197]). Mitochondrial mutation was found in one patient. Novel mutations were found in 76 patients (76/197 i.e., 38.56%). Twenty two patients had variants of unknown significant. The remaining 252 studied patients (252/506 i.e., 49.8%), remained undiagnosed. This study shows that neuro-genetic disorders in the UAE are very heterogeneous at clinical and molecular levels. Using microarray, WES and WGS a diagnosis was reached in 50% of the patients while no diagnosis was reached in other half of the studied patients. It is possible that some mutations were missed by WGS and WES. However, it is also possible that many of disorders in UAE population are novel and the causative mutation is not yet discovered. More researches need to be done in this population to uncover the molecular basis of these disorders.

Knowledge and attitudes of Lebanese women of childbearing age towards emergency contraception.

Objectives: Unwanted pregnancy is sometimes associated with unsafe abortion, which may lead to maternal death. Pregnancy after unprotected sexual intercourse can be avoided by using emergency contraception (EC). Our study aimed to assess the knowledge and attitudes of reproductive-aged Lebanese women towards EC use.Methods: A descriptive cross-sectional study was conducted by interviewing randomly selected women aged between 15 and 49 years from the five major Lebanese governates. A pre-tested, pre-structured questionnaire was applied composed of three parts: (1) personal information, (2) knowledge about EC methods and (3) attitude towards EC.Results: We found that 78% of participants had never heard of EC. Among those who had heard of EC, only 29.3% had good knowledge about it. Knowledge about EC was not, however, associated with participants' sociodemographic characteristics (i.e., age, marital status, educational level and background, occupation and occupational field and area of residence). There was a positive attitude towards EC among 57.3% of participants. Attitudes were statistically associated with level of education, area of residence and whether the respondent had ever heard of EC.Conclusion: Most Lebanese women of childbearing age lack knowledge about EC. There is a need to raise public awareness of EC.

Knowledge and Awareness Among Mothers Regarding Early Childhood Development: A Study From the United Arab Emirates.

Background and objective There is a dearth of studies on the knowledge and awareness among mothers on childhood development in the United Arab Emirates (UAE). Maternal knowledge of childhood development is a critical determinant of children's development and behavior. In light of this, we conducted this study to determine the level of maternal knowledge about childhood development. Methodology We employed a cross-sectional study design involving 200 mothers of all ages recruited using stratified random sampling. After obtaining informed consent, the participants were required to complete a questionnaire adapted from the "Ages and Stages" questionnaire, which covered demographics and items on developmental milestones. The questionnaire was validated and checked for reliability by using a focus group. Inferential statistics were used, and the association between the variables was analyzed using the Chi-squared test. Results Our findings indicated that the knowledge among mothers regarding child development is relatively low in the UAE. Two-thirds of the respondents were knowledgeable about gross motor skills (62% of the mothers knew the age at which a child could lift his/her head). Less than half of the mothers were well-informed about fine motor skills such as writing and drawing (44% of the mothers were aware of the age at which a child should be able to scribble on paper). The respondents demonstrated a lack of knowledge regarding children's speech and language skills. Regarding social skills, only 8% of the mothers were aware of the correct age at which a child should start to dress by himself/herself. Conclusion Although mothers in the UAE were knowledgeable about certain aspects of childhood development such as gross motor development, they were less knowledgeable regarding other aspects such as social and language skills. The gaps identified in our study highlight the need to implement effective health education programs so that mothers are better informed to help improve child development outcomes in the community.