Post on 17-Jan-2018
Adaptive Function in Dravet Syndrome Se Hee Kim, MD, Douglas R. Nordli Jr., MD, Frank Zelko, PhD, Linda Laux, MD. Epilepsy Center, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA;Departmet of Pediatrics, Feinberg School of Medicine, Northwestern University Chicago, IL, USA;Introduction Results
Discussion
Methods
Conclusions
Study subjects • Seventy children with Dravet syndrome were assessed with ABAS-II
at our epilepsy center between Jan. 2001 and Nov. 2014.
• All subjects met the following diagnostic criteria Prior to seizure onset : normal development Seizure onset : < 12 months of age Initial seizures: febrile or afebrile unilateral or generalized
convulsions Multiple following seizure types including focal seizures,
myoclonic seizures, atypical absences and status epilepticus Developmental issues, ataxia, gait abnormalities, behavioral
problems
Study design • A cross-sectional study • One test per each patient was evaluated.
Adaptive Behavioral Assessment System-2nd Edition (ABAS-II) • A questionnaire is completed by the parents/caregivers.• Includes 211 items and 3 domains : conceptual, social and practical. • General Adaptive Composite (GAC) is calculated. • Scores are age standardized (100 ± 15).
Statistical analysis • IBM SPSS version 22 (SPSS Inc., Chicago, IL, USA). • Linear regression, Pearson’s correlation and Kruskall-Wallis test.
Dravet syndrome (DS) is an infantile onset epilepsy syndrome, highly associated with voltage-gated sodium channel mutations. Many suffer cognitive impairment, causing social inadaptiveness.
Adaptive Behavior Assessment System-2nd Edition (ABAS-II) is a well-established neuropsychiatric tool, which represents the adaptive function of children and adolescents accurately..
Here, we evaluated adaptive function of 70 patients with Dravet syndrome, by using ABAS-II.
• This study illustrates the utility of an adaptive functioning checklist for the patients with Dravet syndrome which may lead to the early diagnosis of impairment and thus, early intervention.
• These findings need to be confirmed with a prospective, longitudinal study.
• Adaptive function was severely affected in Dravet syndrome, and declined with age. The wide range in the scores among individuals in the same age range, however, suggests that there may be other factors that influence adaptive function in Dravet syndrome in addition to the age.
• In 15 individuals who had multiple ABAS-II tests, we also observed a decline of adaptive function with age.
• A high correlation between the IQ and the ABAS-II score in our 15 children suggests that a parent-filled questionnaire (e.g. ABAS-II) may be a simple, effective neuropsychiatric measuring tool, which can be of great utility in clinical setting.
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tical
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2002 2003 2004 2005 2006 2007 2008 2009 2010 2011 2012 20130
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14 Chart TitleDemographics Age at ABAS (y) 4 (16, 2 – 6)Male : Female 30 : 40Seizure onset (m) 5 (12, 4 – 6)Age at gene testing (y) 1.8 (17, 0.9 – 3.4)
Fig. 1. The year of genetic testing.
Fig. 5. Three different domains of ABAS-II correlated well.
Fig. 4. Comparison between the domains. Patients with Dravet syndrome had a higher social skill and a lower practical skill.
Freq
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Fig. 6. A longitudinal observation of the adaptive scores in 15 children with Dravet syndrome.
30 60 90 1200
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General Adaptive Score (GAC)
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llect
ual Q
uotie
nt (I
Q)
Fig. 7. Correlation between the intellectual quotient (IQ) and the adaptive score in 21 children with Dravet syndrome.
GAC Conceptual Social Practical
Age (years)
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ral A
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ore
(GAC
)
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(GAC
) y = -1.456x + 72.818R² = 0.0688
R = 0.846 R = 0.804 R = 0.894
P = 0.005
R = 0.631, P = 0.002
P = 0.745
Fig. 2. SCN1A mutations.
Fig. 3. ABAS score drops with increased age. There appeared to be a rapid drop up until about 9 years of age with a leveling off after 9; however, because ABAS scores are truncated at 40, it is hard to know.