Biomarkers
Evidence is insufficient for the use of chemical biomarkers to detect prenatal alcohol exposure. Biomarkers being studied include fatty acid ethyl esters (FAEE) detected in the meconium (first feces of an infant) and hair. FAEE may be present if chronic alcohol exposure occurs during the 2nd and 3rd trimester since this is when the meconium begins to form. Concentrations of FAEE can be influence by medication use, diet, and individual genetic variations in FAEE metabolism however. Ten brain domains
A recent effort to standardize assessment of functional CNS damage has been suggested by an experienced FASD diagnostic team in Minnesota. The proposed framework attempts to harmonize IOM, 4-Digit Diagnostic Code, CDC, and Canadian guidelines for measuring CNS damage vis-à-vis FASD evaluations and diagnosis. The standardized approach is referred to as the Ten Brain Domains and encompasses aspects of all four diagnostic systems recommendations for assessing CNS damage due to prenatal alcohol exposure. The framework provides clear definitions of brain dysfunction, specifies empirical data needed for accurate diagnosis, and defines intervention considerations that address the complex nature of FASD with the intention to avoid common secondary disabilities.The proposed Ten Brain Domains include:
Achievement, adaptive behavior, attention, cognition, executive functioning, language, memory, motor skills, multisensory integration or soft neurological problems, social communicationThe Fetal Alcohol Diagnostic Program (FADP) uses unpublished Minnesota state criteria of performance at 1.5 or more standard deviations on standardized testing in three or more of the Ten Brain Domains to determine CNS damage.
Laurence–Moon syndrome (LMS) is a rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities. Signs and symptoms
Intellectual disability, hexadactyly, central diabetes insipidus, blindness (usually by 30 years due to central retinal degeneration). Genetics
LMS is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Diagnosis
The syndrome was originally thought to have five cardinal features (and recently a sixth was added), on the basis of which a diagnostic criterion was developed:
4 primary features or 3 primary features and 2 secondary features must be present. The primary features are:
1. Polydactyly
2. Rod-cone dystrophy
3. Learning disabilities
4. Obesity
5. Hypogonadism in males
6. Renal abnormalities
While the secondary features are stated to be as:
1. Speech disorder and/or developmental delay
2. Ophthalmic abnormalities other than rod-cone dystrophy (strabismus, cataract, astigmatism etc.) 3. Brachydactyly or Syndactyly
4. Polyuria and/or polydipsia (nephrogenic diabetes insipidus)
5. Ataxia, poor coordination, imbalance
6. Mild spasticity (especially lower limbs)
7. Diabetes mellitus
8. Dental crowding, hypodontia, small roots, high arched palate
9. Congenital heart disease
10. Hepatic fibrosis

Treatment
There is no cure to LNMS. However, symptomatic treatment is often provided. The patients with LNMS often experience ataxia, spasticity and contractures, restricting their movements and daily activities.