Neurodevelopmental disorders are ailments which affect brain and neurological system. It include conditions such as epilepsy, intellectual disability/developmental delay, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorders, schizophrenia, conduct disorders, dyslexia, cerebral palsy, and visual and hearing impairments (DSM-5, Development. American Psychiatric Association; 2013). The estimated prevalence for intellectual disability/developmental delay is 10.37/1000 population1, for autism spectrum disorders is 7.6 per 10002, and epilepsy is 5.8 per 1,000 population (for high income countries), 10.3 per 1,000 (for lower income countries) in urban areas and 15.4 per 1,000 (for lower income countries) in rural area3. Most
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Advances in genetic tools has helped to discover multiple cytogenetic tests which can detect copy number variations which associates with neurodevelopmental disorders. These includes microarrays and next-generation sequencing (NGS)17. Rare copy number variations are common in patients with neurodevelopmental such as epilepsy18,19, intellectual disability20,21 and autism spectrum disorders22,23. Furthermore, rare copy number variations are more prevalent in patients with neurodevelopmental disorders that concurs with multiple congenital anomalies (MCA) such as facial dysmorphism, skeletal malformations, congenital heart diseases and corpus callosum dysplasia24,25. These multiple congenital anomalies have been reported as predictors in isolated/combined neurodevelopmental disorders.
We aimed to investigate the predictors of the pathogenic copy number variations (CNVs) in pediatric patients with neurodevelopmental disorders through a systematic review of published peer-reviewed cohort studies. These predictors will help to develop a tool which can assist clinician to decide which patients can benefit from cytogenetic tests. Knowing the predictors can minimize the delay time in making an accurate diagnosis and provision of the appropriate management including the genetic counselling. To our knowledge there is no systemic review which has been done to evaluate the possible
Advances in genetic tools has helped to discover multiple cytogenetic tests which can detect copy number variations which associates with neurodevelopmental disorders. These includes microarrays and next-generation sequencing (NGS)17. Rare copy number variations are common in patients with neurodevelopmental such as epilepsy18,19, intellectual disability20,21 and autism spectrum disorders22,23. Furthermore, rare copy number variations are more prevalent in patients with neurodevelopmental disorders that concurs with multiple congenital anomalies (MCA) such as facial dysmorphism, skeletal malformations, congenital heart diseases and corpus callosum dysplasia24,25. These multiple congenital anomalies have been reported as predictors in isolated/combined neurodevelopmental disorders.
We aimed to investigate the predictors of the pathogenic copy number variations (CNVs) in pediatric patients with neurodevelopmental disorders through a systematic review of published peer-reviewed cohort studies. These predictors will help to develop a tool which can assist clinician to decide which patients can benefit from cytogenetic tests. Knowing the predictors can minimize the delay time in making an accurate diagnosis and provision of the appropriate management including the genetic counselling. To our knowledge there is no systemic review which has been done to evaluate the possible