Neurodevelopmental Disorders
Neurodevelopmental disorders such as epilepsy, autism spectrum disorders and intellectual disability are the common ailments in pediatric population. Most of these neurodevelopmental disorders concurs together. Genetic etiologies contributes to their occurrence in large extent. The genetic etiologies can be identified through multiple cytogenetic tests including microarrays and next-generation sequencing (NGS) which can reveal chromosomal aberrations such as copy number variations. Currently, the copy number variation tests are widely used due their efficacy in determination of the underlying etiologies especially in neurodevelopmental disorders. Although few studies investigated the predictors of the pathogenic copy number variations in individual
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Congenital malformation/anomalies can be defined as a physical defect that is present in a baby from birth. It can involve many different systems of the body including central nervous system, cardiovascular system, respiratory system, musculoskeletal system, gastrointestinal system, genitourinary system and reproductive system. These may include brain malformations, facial abnormalities, skin malformations, congenital heart diseases and bones malformations. These malformations are due to underlying genetic etiologies. The reported malformations included corpus callosum dysplasia for brain, cutaneous dyschromia for skin, ear malformations and brachydactyly for skeletal malformations. Caramaschi E, et al reported malformations and dysmorphism as predictors in which they defined malformation as major organ anomalies including the heart and genitourinary system29. However, they did not define the dysmorphisms.
Positive family history for intellectual disability/autism spectrum disorders/multiple congenital anomalies was reported as predictor in one study with majority of the patients with autism spectrum disorders28. This shows that these diseases have underlying genetic etiologies which can run in the families. However other studies did not identify that as predictor. This could be explained by their different inclusion criteria. Nevertheless, more studies can be done to prove this especially in large pediatric population
Congenital malformation/anomalies can be defined as a physical defect that is present in a baby from birth. It can involve many different systems of the body including central nervous system, cardiovascular system, respiratory system, musculoskeletal system, gastrointestinal system, genitourinary system and reproductive system. These may include brain malformations, facial abnormalities, skin malformations, congenital heart diseases and bones malformations. These malformations are due to underlying genetic etiologies. The reported malformations included corpus callosum dysplasia for brain, cutaneous dyschromia for skin, ear malformations and brachydactyly for skeletal malformations. Caramaschi E, et al reported malformations and dysmorphism as predictors in which they defined malformation as major organ anomalies including the heart and genitourinary system29. However, they did not define the dysmorphisms.
Positive family history for intellectual disability/autism spectrum disorders/multiple congenital anomalies was reported as predictor in one study with majority of the patients with autism spectrum disorders28. This shows that these diseases have underlying genetic etiologies which can run in the families. However other studies did not identify that as predictor. This could be explained by their different inclusion criteria. Nevertheless, more studies can be done to prove this especially in large pediatric population