Table 2 Quality framework
| Â | 1-Poor | 2-Adequate | 3-Good | 4-Excellent |
|---|---|---|---|---|
Sample identification | Not specified/reported | Single, restricted or non-random sample (e.g. from a specialist clinic or previous research study) | Multiple restricted or non-random sample (e.g. multiregional specialist clinics) | Random or total population sample |
Confirmation of syndrome | Not reported or reported without reference to the criteria used (e.g. [2,3,4,5]) | Specific clinical criteria reported (e.g. [2,3,4,5]) without genetic assessment | Specific clinical criteria reported (e.g. [2,3,4,5]) with CHD7 status reported retrospectively | Specific clinical criteria reported (e.g. [2,3,4,5]) alongside prospective genetic assessment |
Behavioural/psychological assessment | Descriptions of behaviour based on non-standardised informant report or review of clinical information | Standardised informant report measure (e.g. the RBQa ADI-Rb) or clinical judgement based on DSMc or ICDd criteria | Standardised behavioural or observational assessment (e.g., neuropsychiatric evaluation, ADOSe | Consensus drawn from multiple assessments, including one or more standardised behavioural or observational assessment |
Cognitive assessment | Description or estimation of cognitive ability based on non-standardised informant report or review of clinical information | Standardised informant report measure (e.g. VABS)f | Standardised behavioural or observational assessment (e.g. neuropsychiatric evaluation, BSID)g | Consensus drawn from multiple assessments, including one or more standardised behavioural or observational assessment |
Sleep assessment | Response to a single question or response to a non-standardised questionnaire | Standardised sleep questionnaire (e.g. SDSC)h | Informant report diary or direct clinical observation (e.g. video footage or observation made within a clinical or hospital setting, not polysomnography or actigraphy) | Use of polysomnography or actigraphy |