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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
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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 • 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 • Verbal report of biological parent or relative • Knowledge that the child suffered alcohol withdrawal at birth • 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 • #3 argues • #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)
CBCL items involving significant group differences(Controls & FASD)
Seven items most strongly differentiating FASD from control • #1 acts to young for his/her age • #8 can’t concentrate/poor attention • #9 can’t sit still/restless/hyperactive • #22 disobedient at home • #26 no guilt after misbehaving • #41 impulsive/acts without thinking • #43 lying or cheating
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
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 • Does your child act too young for his/her age? • Does your child have difficulty concentrating and can’t pay attention for long? • Is your child disobedient at home? • Does your child lie or cheat? • Does your child lack guilt after misbehaving? • Does your child act impulsively and without thinking? • 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 • Does your child lack guilt after misbehaving? • Does your child act cruel, bully or is mean to others? • Does your child act young for his/her age? OR ii). 3 of the following 6 • Does your child lack guilt after misbehaving? • Does you child act cruel, bully or is mean to others? • Does your child act young for his/her age? • Does your child steal from outside the home? • Does your child steal from home? • 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)