| Literature DB >> 24083778 |
Rochelle E Watkins1, Elizabeth J Elliott, Amanda Wilkins, Raewyn C Mutch, James P Fitzpatrick, Janet M Payne, Colleen M O'Leary, Heather M Jones, Jane Latimer, Lorian Hayes, Jane Halliday, Heather D'Antoine, Sue Miers, Elizabeth Russell, Lucinda Burns, Anne McKenzie, Elizabeth Peadon, Maureen Carter, Carol Bower.
Abstract
BACKGROUND: Fetal alcohol spectrum disorders (FASD) are underdiagnosed in Australia, and health professionals have endorsed the need for national guidelines for diagnosis. The aim of this study was to develop consensus recommendations for the diagnosis of FASD in Australia.Entities:
Mesh:
Year: 2013 PMID: 24083778 PMCID: PMC3849849 DOI: 10.1186/1471-2431-13-156
Source DB: PubMed Journal: BMC Pediatr ISSN: 1471-2431 Impact factor: 2.125
Figure 1Study design and methods used to develop recommendations for the diagnosis of FASD in Australia.
Summary of consensus recommendations for the diagnosis of FASD in Australia
| Population screening | We do not recommend population-based screening for FASD (GRADE: strong recommendation | low quality evidence) |
| Referral | We recommend the use of standard criteria for referral for specialist diagnostic assessment (GRADE: conditional recommendation | low quality evidence) |
| Diagnostic categories | We recommend the diagnostic categories of fetal alcohol syndrome, partial fetal alcohol syndrome and neurodevelopmental disorder-alcohol exposed for use in Australia (GRADE: conditional recommendation | low quality evidence) |
| Diagnostic criteria | We recommended that the diagnosis of fetal alcohol syndrome, partial fetal alcohol syndrome and neurodevelopmental disorder-alcohol exposed are based on the criteria summarised in Table |
| Diagnostic assessment methods | We recommend standard diagnostic assessment based on the comprehensive interdisciplinary UW approach to assessment (GRADE: conditional recommendation | low quality evidence) |
| Resources for implementation | We recommend the development of comprehensive resources to facilitate national implementation of standard diagnostic criteria and national case reporting (GRADE: conditional recommendation | low quality evidence) |
| Consumer information and support | We recommend that information and support are provided for individuals and their parents or carers during the diagnostic process (GRADE: conditional recommendation | low quality evidence) |
FASD – fetal alcohol spectrum disorders;
GRADE – Grading of Recommendations Assessment, Development and Evaluation [21].
Recommended Australian FASD diagnostic categories and criteria
| | | ||
|---|---|---|---|
| Requires all 4 of the following criteria to be met: | Requires confirmed prenatal alcohol exposure, the presence of 2 of the 3 characteristic FAS facial anomalies at any age, and CNS criteria to be met: | Requires confirmed prenatal alcohol exposure and CNS criteria to be met: | |
| Confirmed or unknown | Confirmed | Confirmed | |
| Simultaneous presentation of all 3 of the following facial anomalies at any age: | Simultaneous presentation of any 2 of the following facial anomalies¤ at any age: | No anomalies required* | |
| | i. short palpebral fissure length (2 or more standard deviations below the mean) | i. short palpebral fissure length (2 or more standard deviations below the mean) | |
| | ii. smooth philtrum (Rank 4 or 5 on the UW Lip-Philtrum Guide†) | ii. smooth philtrum (Rank 4 or 5 on the UW Lip-Philtrum Guide†) | |
| | iii. thin upper lip (Rank 4 or 5 on the UW Lip-Philtrum Guide†) | iii. thin upper lip (Rank 4 or 5 on the UW Lip-Philtrum Guide†) | |
| Prenatal or postnatal growth deficit indicated by birth length or weight ≤ 10th percentile adjusted for gestational age, or postnatal height or weight ≤ 10th percentile | No deficit required* | No deficit required* | |
| At least 1 of the following: | |||
| i. clinically significant structural abnormality (e.g. OFC ≤ 3rd percentile, abnormal brain structure), or neurological abnormality (seizure disorder or hard neurological signs); and/or | |||
| ii. severe dysfunction (impairment in 3 or more domains of function, 2 or more standard deviations below the mean) ‡ | |||
OFC-occipital-frontal circumference. †University of Washington Lip-Philtrum Guides: http://depts.washington.edu/fasdpn/htmls/lip-philtrum-guides.htm. *Not required for diagnosis but may be present. #Appropriate reference charts should be used, and other causes of growth deficit and CNS abnormality excluded. ‡Assessment of dysfunction based on evidence from standard validated assessment instruments interpreted by qualified professionals.
¤Based on the presence of 2 of the 3 characteristic FAS facial features, the observed impairments cannot be causally linked to prenatal alcohol exposure.
Recommended Australian FASD diagnostic assessment content
| History: | Yes |
| Family/social | Yes |
| Prenatal medical | Yes |
| Obstetric | Yes |
| Neonatal | Yes |
| Developmental | Yes |
| Academic | Yes |
| Current problems | Yes |
| Pre + post natal alcohol + other prenatal exposures | Yes |
| Paternal drinking | Yes |
| Drug and alcohol use in the child or individual | Yes |
| Early life trauma | Yes |
| Examination: | Yes |
| Growth | Yes |
| Head circumference | Yes |
| Dysmorphology | Yes |
| Central nervous system | Yes |
| Birth defects | Yes |
| Medical investigations | Yes |
| Diagnostic criteria | Yes |
| Exclusion of other diagnoses | Yes |
| Reporting final diagnosis by category | Yes |
| Results summary: strengths and areas of need | Yes |
| Follow-up and management plan | Yes |
UW-University of Washington 4-Digit Diagnostic Code [4].