A prospective longitudinal study on visuo-cognitive development in Dravet syndrome: Is there a “dorsal stream vulnerability”?

Ricci, Daniela; Chieffo, Daniela Pia Rosaria; Battaglia, Domenica; Brogna, Claudia; Contaldo, Ilaria; Clemente, Valentina De; Losito, Emma; Dravet, C; Guzzetta, Andrea

doi:10.1016/j.eplepsyres.2014.10.009

Cited by 22 publications

(42 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…16,23 Adult patients were clinically diagnosed with autism, but had preserved social skills, with a discrepancy between regular autistic features, and the inappropriate familiarity with strangers. 9,12 Although gait impairment is reported 35 we showed an improvement of gross motor scales over age. Although communicative skills are partly preserved, patients present qualitatively unadapted social behaviors.…”

Section: Discussionmentioning

confidence: 70%

“…A cognitive slowing usually appears between the second and the third years of life and stabilizes around the age of 6 years. [10][11][12] Motor disabilities, particularly fine motor skills and gait disturbances, are also frequently reported. [4][5][6][7][8] Neuropsychological phenotypes of patients with DS are heterogeneous, but there is evidence that visual functions are impaired early and show a persistent delay over time.…”

Section: Introductionmentioning

confidence: 99%

“…1,3,9 Nonverbal Wechsler scores are usually worse than verbal skills. 4,12,13 The causes of these cognitive dysfunctions are still unknown, but underlying genetic dysfunction seems to play a key role. 4,7,13,14 Most of DS patients develop language but with pronounced dysfunctions such as oral motor impairment, dysarthria, speech planning difficulties, and expressive language deficits.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

et al. 2018

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 70%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Several studies have reported concurrent global motion and motor function deficits in children with abnormal neurodevelopment, for example due to William’s syndrome (Atkinson et al, 1997) or Dravet syndrome (Ricci et al, 2014). In these studies, motor function was assessed using a card posting task (Atkinson et al, 1997) or the Beery VMI (Ricci et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

“…In these studies, motor function was assessed using a card posting task (Atkinson et al, 1997) or the Beery VMI (Ricci et al, 2014). These findings are consistent with an association between global motion perception and visuomotor control.…”

Section: Introductionmentioning

confidence: 99%

Global motion perception is related to motor function in 4.5-year-old children born at risk of abnormal development

et al. 2017

View full text Add to dashboard Cite

Global motion perception is often used as an index of dorsal visual stream function in neurodevelopmental studies. However, the relationship between global motion perception and visuomotor control, a primary function of the dorsal stream, is unclear. We measured global motion perception (motion coherence threshold; MCT) and performance on standardized measures of motor function in 606 4.5-year-old children born at risk of abnormal neurodevelopment. Visual acuity, stereoacuity and verbal IQ were also assessed. After adjustment for verbal IQ or both visual acuity and stereoacuity, MCT was modestly, but significantly, associated with all components of motor function with the exception of gross motor scores. In a separate analysis, stereoacuity, but not visual acuity, was significantly associated with both gross and fine motor scores. These results indicate that the development of motion perception and stereoacuity are associated with motor function in pre-school children.

show abstract

Comorbidities in Dravet Syndrome and Lennox–Gastaut Syndrome

Marchese

Cappelletti

Filippini³

et al. 2021

SN Compr. Clin. Med.

View full text Add to dashboard Cite

This study aims to describe the main cognitive and behavioral comorbidities of Dravet syndrome (DS) and Lennox–Gastaut syndrome (LGS), their impact on the health-related quality of life (QOL) of patients and their caregivers, and provide a summary of the neuropsychological tools available for the evaluation of these comorbidities. The cognitive and behavioral comorbidities in patients with DS and LGS have a profound effect on the QOL of affected individuals and their caregivers and, as patients grow, tend to surpass the impact of the seizures. DS is a genetic condition associated with loss-of-function mutations in the SCNA1 sodium channel gene; LGS is an etiologically heterogeneous condition that is often secondary to structural brain abnormalities. The first seizures associated with DS typically present in the first year of life, and developmental delay becomes progressively evident thereafter. LGS usually starts between the ages of 3 and 8 years, with cognitive impairment becoming clinically evident in most patients within 5 years from the onset. In both DS and LGS, cognitive impairment is generally moderate to severe and is often accompanied by behavioral problems such as hyperactivity and inattention. In addition to optimal seizure control, regular assessment and active management of cognitive and behavioral comorbidities are required to meet the complex needs of patients with DS or LGS.

show abstract

A prospective longitudinal study on visuo-cognitive development in Dravet syndrome: Is there a “dorsal stream vulnerability”?

Cited by 22 publications

References 27 publications

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

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

Global motion perception is related to motor function in 4.5-year-old children born at risk of abnormal development

Comorbidities in Dravet Syndrome and Lennox–Gastaut Syndrome

Contact Info

Product

Resources

About