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
Background and objectiveThere 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. MethodologyWe 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. ResultsOur 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. ConclusionAlthough 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.
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