About this Research Topic
Intellectual disability (ID) is a substantial impairment in cognitive functioning and adaptive behavior originating during the developmental period. It affects approximately 2% of the population with some regional variations and has major socioeconomic impacts. Identification of ID is based on clinical assessment as measured by individually administered validated tests of intellectual functioning and adaptive behavior, appropriately normalized and standardized. ID is caused by multiple exogenous and endogenous factors, including heredity, and single-gene defects are the likely primary role in the severe forms of ID.
Pursuing an etiological diagnosis of ID is important to identify treatable causes, anticipate associated complications, and facilitate intervention services, long-term life planning and access to support services. It is also important for the development of prevention program, and provision of genetic counseling.
The main evaluation tools used for confirmation and identification of specific etiology of ID are laboratory tests for genetic abnormalities or disorders and for inborn errors of metabolism, associated with neuroimaging. The advent of next-generation sequencing (NGS) and genomic microarrays together with the utility of the autozygome for the high throughput confirmation of previously published tentative links to diseases contributed markedly to the discovery of ID genes and variants. However, validating variants’ pathogenicity, particularly for de novo variants, is still a challenge. To aid in variants classification multiple tools have emerged through facilitating data sharing and subsequently variants interpretation, such as GeneMatcher. Still, functional experimentation is an important indicator of variants pathogenicity.
The aim of this Research Topic is to gather a comprehensive body of research to highlight the current state of knowledge regarding rare genetic disorders associated with intellectual disability. Of interest are articles addressing the following:
• Epidemiology of rare genetic disorders associated with intellectual disability
• Etiological diagnosis of ID
• Identification of treatable causes
• The discovery of ID genes and variants
• Facilitating data sharing and subsequently variants interpretation
• Functional experimentation as indicator of variants pathogenicity
• The development of prevention programs
• Provision of genetic counseling
The expected article types include Original Research, Systematic Review, Methods, Review, Policy and Practice Reviews, Clinical Trial, Policy Brief, and Case Report.
Pursuing an etiological diagnosis of ID is important to identify treatable causes, anticipate associated complications, and facilitate intervention services, long-term life planning and access to support services. It is also important for the development of prevention program, and provision of genetic counseling.
The main evaluation tools used for confirmation and identification of specific etiology of ID are laboratory tests for genetic abnormalities or disorders and for inborn errors of metabolism, associated with neuroimaging. The advent of next-generation sequencing (NGS) and genomic microarrays together with the utility of the autozygome for the high throughput confirmation of previously published tentative links to diseases contributed markedly to the discovery of ID genes and variants. However, validating variants’ pathogenicity, particularly for de novo variants, is still a challenge. To aid in variants classification multiple tools have emerged through facilitating data sharing and subsequently variants interpretation, such as GeneMatcher. Still, functional experimentation is an important indicator of variants pathogenicity.
The aim of this Research Topic is to gather a comprehensive body of research to highlight the current state of knowledge regarding rare genetic disorders associated with intellectual disability. Of interest are articles addressing the following:
• Epidemiology of rare genetic disorders associated with intellectual disability
• Etiological diagnosis of ID
• Identification of treatable causes
• The discovery of ID genes and variants
• Facilitating data sharing and subsequently variants interpretation
• Functional experimentation as indicator of variants pathogenicity
• The development of prevention programs
• Provision of genetic counseling
The expected article types include Original Research, Systematic Review, Methods, Review, Policy and Practice Reviews, Clinical Trial, Policy Brief, and Case Report.
Keywords: Intellectual Disability; Identification; Genetics; Rare
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
