Autism and behavior in adult patients with Dravet syndrome (DS)

Berkvens, J.J.L.; Veugen, I; Veendrick-Meekes, M.J.B.M.; Snoeijen-Schouwenaars, F.M.; Schelhaas, H. Jurgen; Willemsen, MH; Tan, In Y.; Aldenkamp, AP Albert

doi:10.1016/j.yebeh.2015.04.057

Cited by 58 publications

(62 citation statements)

References 17 publications

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“…The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities that vary from mild learning disabilities to severe intellectual impairment, ASD, and behavioral disturbances. Seizures occur significantly more often in ASD þ Down than in Down only control (Molloy et al 2009) Dravet syndrome 24.3% 61.5% (Berkvens et al 2015) 100% (Wolff et al 2006) 100% (Berkvens et al 2015) Duchenne muscular dystrophy 15% (Banihani et al 2015) 6.3% (Pane et al 2013) Fragile X syndrome 21% (Kohane et al 2012) 30% ( The majority of individuals with TSCs have mutations of Tsc1 (encoding for the protein hamartin) or Tsc2 (encoding for the protein tuberin). Hamartin and tuberin proteins form a functional complex, which inhibits the serine/ threonine protein kinase mammalian target of rapamycin (mTOR) (Curatolo et al 2015).…”

Section: Genetics Of Epilepsy and Autismmentioning

confidence: 99%

Epilepsy and Autism

Buckley

Holmes

2016

Cold Spring Harb Perspect Med

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Epilepsy and autistic spectrum disorder frequently coexist in the same individual. Electroencephalogram (EEG) epileptiform activity is also present at a substantially higher rate in children with autism than normally developing children. As with epilepsy, there are a multitude of genetic and environmental factors that can result in autistic spectrum disorder. There is growing consensus from both animal and clinical studies that autism is a disorder of aberrant connectivity. As measured with functional magnetic resonance imaging (MRI) and EEG, the brain in autistic spectrum disorder may be under-or overconnected or have a mixture of over-and underconnectivity. In the case of comorbid epilepsy and autism, an imbalance of the excitatory/inhibitory (E/I) ratio in selected regions of the brain may drive overconnectivity. Understanding the mechanism by which altered connectivity in individuals with comorbid epilepsy and autistic spectrum disorder results in the behaviors specific to the autistic spectrum disorder remains a challenge.

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Section: Genetics Of Epilepsy and Autismmentioning

confidence: 99%

Epilepsy and Autism

Buckley

Holmes

2016

Cold Spring Harb Perspect Med

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“…3,4,7,10,11,13,15 Complex cognitive ability deficits, such as categorization and executive disorders, have also been reported. 4,6,[16][17][18][19][20] Most studies have reported lack of verbal communication, with 10%-79% of patients showing social problems, such as poor peer relationships, being withdrawn, lack of emotional reciprocity, social rules problems, or excessive familiarity. 2,3 Autism spectrum disorder (ASD) features have been reported in patients with DS but were defined as « autistic traits » without using standardized tools.…”

Section: Introductionmentioning

confidence: 99%

“…4,12,13 The causes of these cognitive dysfunctions are still unknown, but underlying genetic dysfunction seems to play a key role. 6,18,19,[21][22][23] Restricted and unusual interests, like obsessions, perseverations, or self-stimulations, are reported in 24%-69%. Depending on the type of assessment (Table 1), rates of "autistic traits" vary from 8.3% to 61.5%.…”

Section: Introductionmentioning

confidence: 99%

“…2,3 Autism spectrum disorder (ASD) features have been reported in patients with DS but were defined as « autistic traits » without using standardized tools. 6,18,19,24 Neophobia, 6,19 adherence to routines and sensory particularities, are less described. 4,6,[16][17][18][19][20] Most studies have reported lack of verbal communication, with 10%-79% of patients showing social problems, such as poor peer relationships, being withdrawn, lack of emotional reciprocity, social rules problems, or excessive familiarity.…”

Section: Introductionmentioning

confidence: 99%

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Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype

et al. 2018

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Summary Objective We aimed to assess a cohort of young patients with Dravet syndrome (DS) for intellectual disability (ID) and autism spectrum disorder (ASD) using standardized tools and parental questionnaires to delineate their specific profiles. Methods We included 35 patients with DS aged 24 months to 7 years, excluding patients with a developmental age (DA) <18 months (n = 5). We performed specific tests adapted for ID (Psychoeducational Profile, Third Edition [PEP‐3]), in addition to the Child Development Inventory (CDI) and Vineland Adaptive Behavior Scales, Second Edition (VABS‐II) questionnaires. We used 2 standardized tools for ASD: the Autism Diagnostic Observation Schedule, Second Edition (ADOS‐2) and the Autism Diagnostic Interview‐Revised (ADI‐R). We compared the with parental questionnaires and the VABS‐II, and with ASD characteristics. Results PEP‐3 subscales showed pathologic development in all but one patient (97%): ID in 23 of 30 (77%), and borderline cognitive functioning in 6 of 30 (22%). Eleven patients (39%) had ASD and 2 (7%) had a Social Communication Disorder (SCD) diagnosis. We found no difference between PEP‐3 and CDI categorization except for fine motor skills. We found significant negative correlations between ADOS‐2 and PEP‐3 for the majority of scores. For patients aged older than 50 months, 2 groups emerged (ASD/no ASD) with significant difference in DA. The logistic regression for ASD diagnosis explained by VABS‐II showed a significant effect for Socialization, Motor Skills, and Adaptive Behavior. Significance We found a high prevalence of ID in patients with DS. ID is characterized by expressive and comprehensive communication deficits in addition to visuospatial difficulties. ASD showed a specific profile with a relative preservation of social skills, emphasizing a possible underdiagnosis. Parental questionnaires can provide a good assessment of cognitive profile and might allow the difficulty of addressing cognitive scales in DS to be overcome. The profile of ID and ASD should help to establish early adapted rehabilitation programs and emphasizes the global need for care beyond seizures in DS and other developmental epileptic encephalopathies.

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“…1 Although development is normal in the first year of life, it plateaus in the second year followed by intellectual disability and sometimes behavioural problems. 2 Between 1 and 5 years, additional seizure types emerge including focal, myoclonic, and absence seizures; seizures are typically pharmaco-resistant. 2 Between 1 and 5 years, additional seizure types emerge including focal, myoclonic, and absence seizures; seizures are typically pharmaco-resistant.…”

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confidence: 99%

Sleep problems in Dravet syndrome: a modifiable comorbidity

Licheni

McMahon

Schneider

et al. 2017

Develop Med Child Neuro

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More than 70% of patients with Dravet syndrome have sleep problems. Difficulty initiating and maintaining sleep was most common, particularly in those older than 20 years. Second most common were sleep-wake transition disorders, affecting more than 50% of those younger than 5 years. Sleep breathing disorders were a frequent problem across all age groups. Oximetry was not diagnostic of sleep-disordered breathing or obvious seizures.

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Autism and behavior in adult patients with Dravet syndrome (DS)

Cited by 58 publications

References 17 publications

Epilepsy and Autism

Epilepsy and Autism

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype

Sleep problems in Dravet syndrome: a modifiable comorbidity

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