Competency Va:
Diagnostic Criteria For Fetal Alcohol Syndrome (FAS)





“Parental drinking is a cause of          weak , feeble, and distempered children”

         Report by the College of Physicians to the             
                                 British Parliament ,1726

There are three accepted diagnostic models for FAS:

* Institute Of Medicine

* CDC

* Seattle 4-Digit Code

CDC Diagnostic Criteria
Facial Dysmorphia
	Based on racial norms, presence of one or more characteristic facial features:

* smooth philtrum			(lip-philtrum guide)

* thin vermillion ridge		(lip-philtrum guide)

* short palpebral fissures		(<10th percentile)
  
GROWTH (CDC)
– Growth Deficiency:

  Prenatal or postnatal height and/or weight retardation to <10th percentile, documented at any one point in time from birth forward (adjusted for age, and race/ethnicity)
CNS/Brain (CDC)
* Brain damage is usually generalized rather than specific to individual regions of the brain.  Therefore, the functional abilities affected by prenatal exposure to alcohol vary greatly among individuals.

* CNS abnormalities may result in structural/functional and/or neurological problems.

* Structural problems include:  smaller head circumference <10th percentile or brain abnormalities observable through imaging techniques.
 


– Functional problems may include:  cognitive deficits or developmental delay, deficits in fine and gross motor functioning, attention and hyperactivity problems, social skills deficits, poor organization and planning, academic performance problems in school-age children, and mental health issues.


– Neurological problems may include:  seizures not due to a postnatal insult or other signs such as impaired motor skills, neurosensory hearing loss, or poor eye-hand coordination.
Maternal Alcohol Consumption (CDC)
* Confirmed prenatal alcohol exposure requires reliable documentation of alcohol consumption by the birth mother during the index pregnancy

* Unknown prenatal alcohol exposure indicates there is neither confirmed presence nor confirmed absence  of exposure 



Fetal Developmental Chart
















Brain Function
Structural
	Head Circumference
	Structural (MRI/CT)
Neurologic
	Seizures
	Gross motor
	Fine motor
	Quick neurologic screening
	Other
Psychometric
	Cognitive/Intellectual functioning
	Attention/Activity
     Adaptation/Social Skills
	Executive Functioning/Neuropsychological
	Language
	Sensory
     Motor Abilities
     Memory/Learning
Behavioral/Social Competence
Deriving the 4-Digit Diagnostic Code Rank for Brain Function



4-Digit Diagnostic Code for FAS





       Training for the 4-digit coding system 
                is now available on-line at:

  http://depts.washington.edu/fasdpn 
Fetal Alcohol Syndrome


Aarskog Syndrome
* Etiology: X linked recessive
* Abnormalites:
– 	Growth: slight to moderate short stature
–  Performance: mild to moderate MR (32%), hyperactivity ADHD
– Facies: round , facial edema, ptosis, widow’peak , anteverted nose, broad philrum,hypodontia, overfolded helices
– Limbs: brachydactyly with clinodactaly of fifth finger
– Thorax: pectus excavatum
– Abdomen: prominent umbilicus, hernia
– Genitalia- “ shawl scrotom” in 90 percent.
– Other 
Aarskog Syndrome
Williams Syndrome(7q11.23 deletion)
> Growth: mild prenatal growth deficiency
> Performance IQ range of about 56 ( 41-80). Early on are described as talkative and friendly with hypersensitivity to sound. Perceptual and motor function impairment more pronounced than verbal and memory
> Facies: short palpebral fissures, depressed nasal bridge, epicanthal folds, blue eyes, stellate iris, long philtrum, prominent lips
> Limb; hypoplastic nails, hallux valgus
> Variable Cardiovascular: suprvalvular aortic stenosis, , peripheral pulmonary aterty stenosis, pulmonic valvular stenosis etc.
> Dentition: enamel hypoplasia
> Musculoskeletal: joint limitations, lordosis, scoliosis
> Urinary: renal anomalies
> Other : infrequent hypercalcemia
Williams Syndrome
Noonan  Syndrome
Noonan Syndrome
Bloom Syndrome
Bloom Syndrome
Dubowitz Syndrome
Dubowitz Syndrome
Fetal Hydantoin Syndrome
Fetal Hydantoin Syndrome
Fetal Hydantoin Syndrome
Fetal Hydantoin Syndrome
Fetal Hydantoin Syndrome
Fetal Valproate Syndrome
Fetal Valproate Syndrome
Maternal PKU
Maternal PKU Fetal Effects