Brenda Stade, PhD Fetal Alcohol Spectrum Disorder Dr. Brenda Stade, RN

Brenda Stade, PhD In Canada the incidence of Fetal Alcohol Spectrum Disorder (FASD) has been estimated to be 1 to 9 in 1000 live births.

Brenda Stade, PhD Introduction Caused by prenatal exposure to alcohol FASD is the leading cause of developmental and cognitive disabilities among Canadian children

Brenda Stade, PhD Etiology Alcohol readily crosses the placenta and results in similar levels in the mother and fetus Rate of elimination is slower in the fetus Most teratogenic effect during organogenesis and development of the nervous system

Brenda Stade, PhD Etiology When neuronal activity is abnormally suppressed during the developmental period, the timing and sequence of synaptic connections is disrupted, and this causes nerve cells to receive an internal signal to commit suicide, a form of cell death known as "apoptosis". Addiction Biology 2004 Jun;9(2):

Brenda Stade, PhD Etiology Alcohol suppresses neuronal activity, causing millions of nerve cells to commit suicide in the developing brain. This effect of alcohol provides a likely explanation for the diminished brain size and lifelong neurobehavioral disturbances associated with the fetal alcohol syndrome. Addiction Biology 2004 Jun;9(2):

Brenda Stade, PhD Etiology Teratogenesis is grossly dose related, although the threshold dose is still unknown and related to maternal/fetal susceptibility Risk to fetus greatest with more than 7 or more standard drinks per week (1 standard drink = 13.6 grams of absolute alcohol) Binge drinking of more than 5 ounces ( 142 grams) on one occasion

Brenda Stade, PhD Etiology No safe time to drink during pregnancy No known safe amount

Brenda Stade, PhD Fetal Alcohol Spectrum Disorder: Defined Facial Anomalies Growth Restriction CNS Dysfunction

Brenda Stade, PhD Facial Features

Brenda Stade, PhD Growth Restriction Growth restriction is demonstrated by height and weight below the tenth (10th) percentile, and by microcephaly Growth restriction may be apparent prenatally and/or postnatally

Brenda Stade, PhD Central Nervous System Dysfunction Decreased Cranial Size at Birth Structural Brain Abnormalities: microcephaly, partial or complete agenesis of the corpus callosum, cerebellar hypoplasia Neurobehavioral/Cognitive Signs

Brenda Stade, PhD Neurobehavioral/Cognitive Signs: Infancy Tremors Poor suck Hypotonic/Hypertonic Irritability Feeding problems Developmental delay

Brenda Stade, PhD Neurobehavioral/Cognitive Signs: Beyond Infancy Cognitive problems Fine motor issues Hyperactivity Restlessness Poor ability to focus attention

Brenda Stade, PhD Neurobehavioral/Cognitive Signs Cognitive problems: –Verbal IQ –Performance IQ –Scatter in Cognitive Skills –Specific Learning Disabilities –Memory Deficits –Executive Functioning

Brenda Stade, PhD Executive functions of the prefrontal cortex  working memory  planning  time perception  internal ordering  self- monitoring  regulation of emotion  motivation  inhibition

Brenda Stade, PhD Neurobehavioral/Cognitive Signs Poor Judgement Impulsiveness Sleep disturbances Extreme anxiety Depression Aggressiveness Other Behavioural Problems

Brenda Stade, PhD Associated Anomalies Cardiac anomalies Joint and limb anomalies Neurotubal defects Anomalies of the urogenital system Hearing disorders Visual problems Severe dental malocclusions

Brenda Stade, PhD Diagnosis: Diagnostic Criteria

Brenda Stade, PhD Classification of FASD 1.FAS with confirmed maternal alcohol exposure 2.FAS without confirmed maternal alcohol exposure 3.Partial FAS with confirmed maternal alcohol exposure 4.Alcohol-Related Birth Defect (ARBD) 5.Alcohol-Related Neuro-Developmental Disorder (ARND). American Academy of Pediatrics, 1996.

Brenda Stade, PhD #1: Fetal Alcohol Syndrome with confirmed prenatal exposure to alcohol is characterized by a triad of signs: Facial Anomalies: short palpebral fissures, flat philtrum, and thin vermillion border of the upper lip Growth Restriction: weight and height (length) at or below the 10 th percentile Central Nervous System Dysfunction: Structural abnormalities of the brain, intellectual impairment, developmental delay and a complex pattern of behaviours including extreme hyperactivity, poor judgment and aggressiveness

Brenda Stade, PhD #2: Fetal Alcohol Syndrome without confirmed prenatal exposure to alcohol: If the triad of signs described in category 1 is present, an diagnosis of Fetal Alcohol Syndrome can be made without confirmed alcohol exposure during gestation.

Brenda Stade, PhD #3: Partial Fetal Alcohol Syndrome (PFAS) with confirmed alcohol exposure: This diagnostic term is used when the patient presents with central nervous system dysfunction and most (but not all of the growth and/or facial features of FAS), and has a confirmed prenatal alcohol exposure

Brenda Stade, PhD #4: Alcohol-Related Birth Defects (ARBD) Patients in this category will have congenital malformations such as cardiac anomalies, joint and limb anomalies, and confirmed prenatal alcohol exposure

Brenda Stade, PhD #5: Alcohol-Related Neuro- Developmental Disorder (ARND) Patients with ARND present with neuro- cognitive dysfunction and complex patterns of behaviour, and have a confirmed exposure to alcohol prenatally Patients with ARND may not demonstrate any of the facial features or growth restriction associated with the full syndrome

Brenda Stade, PhD New Classification of FASD 1.FAS with or without confirmed maternal alcohol exposure 2.Partial FAS with confirmed maternal alcohol exposure 3.Alcohol-Related Neuro-Developmental Disorder (ARND). 4.Alcohol-Related Birth Defects (ARBD) CMAJ, March 2005.

Brenda Stade, PhD Differential Diagnosis A number of genetic and malformation syndromes can present with clinical features similar to FASD and must be ruled out

Brenda Stade, PhD Differential Diagnosis  A number of genetic and malformation syndromes can present with clinical features similar to FASD: Cornelia de Lange Syndrome Dubowitz Syndrome Fragile X Velocardiofacial Syndrome Williams Syndrome

Brenda Stade, PhD When to Diagnosis? A diagnosis of FASD can be made at any time during life but it is often most easily made at the age of 18 months to 4 years when the facial characteristics are most distinct

Brenda Stade, PhD Why Diagnose? Validation New understanding leads to new strategies at home and other environments Funding in school and daycare Opening doors for family services Better medical management Prevention of secondary disabilities Prevention of future alcohol affected children

Brenda Stade, PhD Primary Disabilities: Organ Anomalies Cardiac anomalies Joint and limb anomalies Neurotubal defects Anomalies of the urogenital system. Hearing disorders Visual problems Severe dental malocclusions

Brenda Stade, PhD Primary Disabilities: Central Nervous System Tremors Poor suck Hypotonic/Hypertonic Irritability Feeding problems Developmental delay

Brenda Stade, PhD Primary Disabilities: Central Nervous System Cognitive problems Fine motor issues Hyperactivity Restlessness Poor ability to focus attention

Brenda Stade, PhD Primary Disabilities: Central Nervous System Cognitive problems: –Verbal IQ –Performance IQ –Scatter in Cognitive Skills –Specific Learning Disabilities –Memory Deficits –Executive Functioning

Brenda Stade, PhD Executive functions of the prefrontal cortex  working memory  planning  Time perception  internal ordering  self-monitoring  regulation of emotion  Motivation  inhibition

Brenda Stade, PhD Primary Disabilities: Central Nervous System Poor Judgement Impulsiveness Sleep disturbances Extreme anxiety Depression Aggressiveness Other Behavioural Problems

Brenda Stade, PhD Interventions: Medical

Brenda Stade, PhD Interventions: Medical Referral to appropriate specialist: Cardiologist Orthopedics Nephrologist Hearing Testing Visual Testing Follow Growth Dental Care ?? Medication

Brenda Stade, PhD Interventions: Neuro-Developmental

Brenda Stade, PhD Interventions: Neuro- Developmental Developmental Assessment Early Intervention Programs – Cognitive & Fine Motor Pre-School Speech and Language Program Occupational Therapist

Brenda Stade, PhD Interventions: Neuro-Developmental Neuro-developmental or Psychological Assessment Modification of School Programs –Decrease Class Size 8 to 10 –Resource Teacher/Educational Assistant –Individual Educational Plan –Speech Therapist- through school board

Brenda Stade, PhD Interventions: Neuro-Developmental –Challenge – Don’t Overwhelm –Ensure expectations are reasonable with opportunities to succeed

Brenda Stade, PhD Interventions: Psycho-social

Brenda Stade, PhD Interventions: Psycho-social Early Intervention Programs – Behavioural, Social Activities child enjoys that foster self-esteem and social development Psychiatry ? Medication

Brenda Stade, PhD Interventions: Psycho-social – Family Listening & Support Counselling Depression not uncommon and may need treatment Support Groups

Brenda Stade, PhD Thank you!