Defining a Neurobehavioural Phenotype in Fetal Alcohol Spectrum Disorder Nash, K., Greenbaum R., Fantus, E., Rovet, J., & Koren, G.

What is Fetal Alcohol Spectrum Disorder (FASD)? FASD is a neurodevelopmental disorder caused by exposure to alcohol in utero Has effects on both brain and behaviour

Diagnostic Criteria Based on a triad of features  Pre and postnatal growth retardation  CNS damage  Characteristic facial dysmorphology

Only a minority of children meet criteria for the full blown syndrome How do we diagnose without visible signs?

The Motherisk Follow-up Clinic Began in 1996 Provides a specialized diagnosis in a central location Many obstacles exist Not every child has physical symptoms 70% of children with FASD are diagnosed with ADHD Misdiagnosis of ADHD - 70% of children with FASD are diagnosed with ADHD Long wait lists

The Issue of ADHD Children with FASD present with a unique and specific behavioural profile compared to children with ADHD (Greenbaum (2004); Fantus et al., (2004))

The Issue of Access The majority of children with FASD reside in communities with limited access to a specialized diagnosis How do we address this issue?

Aims of the current research To identify whether the diagnosis of FASD can be predicted by individual items from a validated questionnaire To compare children with FASD to children with ADHD and controls on this questionnaire To develop an empirically derived screening tool (Streissguth, 1998)

Methods Participants: children between the ages of 6-16 years. FASD (dx; n=30) ADHD (dx; n=30): No exposure history Controls (n= 30): No exposure history, LD, ADHD Exposure History (FASD): Confirmed by (a)Verbal report of biological parent or relative (b)Knowledge that the child suffered alcohol withdrawal at birth (c)The child having been place in care because of maternal alcohol abuse

The Child Behaviour Checklist (CBCL; Achenbach, 1991) 113 item parent questionnaire T-scores yield: »Competence Scales »3 Broadband scales »8 Narrowband scales »DSM Oriented Scales

Item selection Selected only 12 based on the work of Greenbaum (2000)

CBCL: 12 Items #1 acts to young for his/her age #3argues #8 can’t concentrate/poor attention # 10 can’t sit still/restless/hyperactive #16 cruelty/bullying/meanness to others #22 disobedient at home #26 no guilt after misbehaving #41 impulsive/acts without thinking #43 lying or cheating #74 showing off/clowning #81 steals from home #82 steals outside

Analyses of Data Frequency Counts Proportions endorsed per group (chi square) Endorsement totals per item/group: Discriminant Function Analysis (DFA) Sensitivity and Specificity: Receiver Operating Curves (ROC)

Receiver Operating Curves

CBCL items involving significant group differences (Controls & FASD)

Seven items most strongly differentiating FASD from control #1a cts to young for his/her age #8 can’t concentrate/poor attention #9can’t sit still/restless/hyperactive #22 disobedient at home #26 no guilt after misbehaving #41 impulsive/acts without thinking #43 lying or cheating

ROC Analysis: FASD and Controls

CBCL items involving significant group differences (FASD and ADHD)

Six items most strongly differentiating FASD from ADHD #1 Acts to young for his/her age #16 cruelty/bullying/meanness to others #26 no guilt after misbehaving #43 lying or cheating #81 steals from home #82 steals outside

ROC Analysis: FASD and ADHD

Screening checklist for FASD Step 1: Identifying behaviour suggestive of FASD The following questions should be asked of the child’s parent/guardian to determine whether the child’s behaviour is suggestive of FASD

Screening Checklist Continued 1.Does your child act too young for his/her age? 2.Does your child have difficulty concentrating and can’t pay attention for long? 3.Is your child disobedient at home? 4.Does your child lie or cheat? 5.Does your child lack guilt after misbehaving? 6.Does your child act impulsively and without thinking? 7.Does your child have difficulty sitting still/is restless/hyperactive?

If the parent answers YES to at least 6 out of 7 items this is suggestive of FASD with comorbid ADHD If the child does NOT exhibit behaviour consistent with ADHD then they must receive a score of 3 out of 4 on the conduct related items

Step 2: Differentiating FASD from ADHD i). The child needs to exhibit 2 of the following 3 1.Does your child lack guilt after misbehaving? 2.Does your child act cruel, bully or is mean to others? 3.Does your child act young for his/her age? OR ii). 3 of the following 6 1.Does your child lack guilt after misbehaving? 2.Does you child act cruel, bully or is mean to others? 3.Does your child act young for his/her age? 4.Does your child steal from outside the home? 5.Does your child steal from home? 6.Does your child lie and cheat?

Clinical Implications Address the issue of access Spare the long wait times for a diagnosis Misdiagnosis of ADHD

Limitations Dose and timing of alcohol exposure Confounders Small sample size Clinic referred

Future Directions Compare to children diagnosed with conduct disorder Replicate and empirically validate Neuroimaging and mapping

Acknowledgments Rovet Lab: Meagan Williamson, Dina Lafoyannis, Sarah Borokowski, Erin Sheard, Dr. Mary Desrocher, Darlene Walker Canadian Institute of Health Research (CIHR)