Abstract
Aim
To investigate behavior and cognitive performances of teenage patients with Dravet
syndrome (DS).
Methods
We enrolled 20 teenage patients (12 females and 8 males) with DS, followed in the
Child Neurology Unit of the Catholic University (Rome). Patients underwent a full
clinical examination including behavioral and cognitive assessments (respectively,
CBCL and Wechsler scales).
Results
All patients showed behavior disorders and mental retardation, mild in six cases,
moderate in seven and severe in the remaining seven. Among mildly retarded patients
visual function, particularly visuo-motor abilities resulted mostly impaired in Wechsler
subtests, whereas verbal skills were relatively preserved. In contrast, a general
cognitive impairment was observed in moderately and severely retarded patients.
Conclusions
Our teenage patients with DS compared with other series at different ages (young childhood,
adulthood) suggest a progressivity of neurological and neuropsychological signs. A
visuomotor default and a relative preservation of verbal skills, like what has been
found in previous reports of younger patients, are still evident in mildly impaired
cases. Therefore, the progression over time of these cases toward a generalized impairment
may be suggested, but only longitudinal studies can confirm it.
There was a possible responsibility of some epileptic disorders in worsening the neuropsychological
outcome (early myoclonic seizures and atypical absences, as well as persistent EEG
background slowness in the last 3 years).
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Brain and DevelopmentAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Dravet syndrome – from epileptic encephalopathy to channelopathy.Epilepsia. 2014; 55: 979-984
- Severe myoclonic epilepsy in infancy: Dravet syndrome.Adv Neurol. 2005; 95: 71-102
- Dravet syndrome: a study of 53 patients.Epilepsy Res. 2006; 70: S231-S238
- Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings.Epilepsia. 2006; 47: 45-48
- Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes.Am J Med Genet. 2009; 149A: 2339-2345
- Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients.Brain Dev. 2010; 32: 71-77
- Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.Epilepsia. 2011; 52: 386-392
- Dravet syndrome (severe myoclonic epilepsy in infancy).in: Handbook of clinical neurology, (third series) Pediatric neurology. Part I. vol. 111. Elsevier, Edinburg2013: 627-633
- Early development in Dravet syndrome; visual function impairment precedes cognitive decline.Epilepsy Res. 2011; 93: 73-79
- Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy.Orphanet J Rare Dis. 2013; 8: 176-184
- Neuropsychological development in children with Dravet syndrome.Epilepsy Res. 2011; 95: 86-93
- Severe myoclonic epilepsy of infancy (Dravet syndrome).in: Long-term evolution of epileptic encephalopathies. John Libbey Eurotext, Paris2009: 29-38
- A long-term follow-up study of Dravet syndrome up to adulthood.Epilepsia. 2010; 51: 1043-1052
- Dravet syndrome: the long-term outcome.Epilepsia. 2011; 52: 44-49
- Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.Brain. 2012; 135: 2329-2336
- Long-term course of Dravet syndrome: a study from an epilepsy center in Japan.Epilepsia. 2014; 55: 528-538
- A prospective longitudinal study on visuo-cognitive development in Dravet syndrome: is there a “dorsal stream vulnerability”?.Epilepsy Res. 2015; 109: 57-64
- Cognitive decline in Dravet syndrome: is there a cerebellar role?.Epilepsy Res. 2013; 106: 211-221
- Borderline Dravet syndrome: a useful diagnostic category?.Epilepsia. 2011; 52: 10-12
- A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome.J Neurodev Disord. 2009; 1: 33-45
- Manual for the child behavior checklist and revised child behavior profile.Queen City Printers, Burlington, VT1983
- Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).Epilepsia. 2004; 45: 140-148
- Neuroimaging and neuropathology of Dravet syndrome.Epilepsia. 2011; 52: 30-34
- Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants.Dev Med Child Neurol. 2011; 53: 11-15
- Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome.Epilepsy Behav. 2014; 31: 143-148
- Disorders of early language development in Dravet syndrome.Epilepsy Behav. 2016; 54: 30-33
- Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment.Neurobiol Dis. 2013; 49: 29-40
- Autistic-like behaviour in Scn1a+/− mice and rescue by enhanced GABA-mediated neurotransmission.Nature. 2012; 489: 385-390
- Cerebellar cognitive affective syndrome.Int Rev Neurobiol. 1997; 41: 433-440
- Cryptogenic myoclonic epilepsies of infancy and early childhood. Nosological and prognostic approach.in: Advances in epileptology. Raven Press, New York1987: 175-180
Article info
Publication history
Published online: January 18, 2016
Accepted:
December 28,
2015
Received in revised form:
December 19,
2015
Received:
September 7,
2015
Identification
Copyright
© 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
