Individuals

Many published reports in which copy number variants have been identified include information on the individuals (also referred to as cases or probands) within autistic populations. When provided, this information is curated and presented in the individual data section.
Case studies commonly feature detailed profiles on affected individuals from which we extract information to form the following categories:

Clinical profile. This category can potentially contain a broad range of information, depending on the source material. Among the types of information included in the clinical profile category are : clinical history; dysmorphic features; comorbidities commonly associated with ASD such as ADHD, epilepsy, or sleep disturbances; and growth parameters such as height, weight, and head circumference. When included in the published report, ADI-R and/or ADOS scores are listed. Otherwise, more qualitative measures of core ASD features (deficiencies in social interactions, communication deficits, and repetitive and restricted behaviors) are provided.

Cognitive profile. Individuals with ASDs often exhibit a range of intellectual deficits. Information on IQ scores, or the extent of mental retardation, intellectual disability, or developmental delay is provided in this category. Cognitive profile may either be qualitative ("average", "below-average", etc.) or quantitative (with numerical score or percentile values), and in some cases the testing metholodogy is provided.
In addition, many published reports also feature the following information:
CNV Inheritance. A CNV can either arise de novo or be inherited on either the maternal chromosome or the paternal chromosome (although, in some cases, a CNV can be inherited from both parents). A de novo CNV spontaneously arises in an individual and is not transmitted from either parent, and there is considerable interest in the importance of de novo CNVs as a significant genetic cause for ASDs, especially in simplex families. However, both maternally-inherited and paternally-inherited CNVs are also believed to confer varying degrees of pathogenic risk. If the origin of a CNV has not been ascertained, then its inheritance is classified in the module as "Unknown".

Family Profile. In many cases, families with autistic individuals are frequently categorized as either simplex or mulitplex. In a simplex family, the proband identified in a CNV report is the only sibling in the proband's family with ASD. Simplex cases may also be referred to as sporadic cases in the scientific literature. In a multiplex family, in addition to the proband identified in a CNV report, there is at least one additional autistic sibling in the proband's family. When such information is provided, the Family Profile is listed as either Simplex or Multiplex. This information is essential in understanding how closely a given CNV co-segregates with disease.

CNV-Disease Segregation. Of particular importance in assessing the clinical importance of any given copy number variant is how closely the CNV associates or segregates with the disease. For example, if a copy number variant is only identified in one or more autistic siblings, but it is not present in any unaffected siblings, the CNV is said to be segregated with the disease. However, if a copy number variant is found both in an autistic individual and at least one of his or her unaffected siblings, or if a CNV is present in one autistic sibling but not in another affected sibling, then the CNV-disease association is characterized as not segregated. By their nature, de novo CNVs are considered to closely segregate with disease.

Each individual in the CNV module dataset is assigned a name (or patient ID) that consists of the name of the cohort to which the individual belongs, as described in the "cohorts" section, followed by an unique identification tag that differentiates that individual from other individuals in the same cohort. In many cases, the unique identification tag for each individual in the dataset is taken directly from the patient identification tag used in the report. Otherwise, the individual is assigned an identification tag during the annotation process.
For example, for patient 5335_3 from the ASD discovery case cohort described in Pinto D 2010, the name of the individual in the module would be:
pinto_10_ASD_discovery_cases-case5335_3