Neuropsychological development in children with Dravet syndrome

Chieffo, Daniela Pia Rosaria; Battaglia, Domenica; Lettori, Donatella; Re, Maria Del; Brogna, Claudia; Dravet, Charlotte; Mercuri, Eugenio; Guzzetta, Andrea

doi:10.1016/j.eplepsyres.2011.03.005

Cited by 65 publications

(94 citation statements)

References 21 publications

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“…3,4 This disparity is likely due to past studies including children of a younger age range (up to 13 years of age) and with better cognitive profile. Further, around half of previously reported patients had SCN1A mutations.…”

Section: Cognitionmentioning

confidence: 69%

“…Mild dysphagia was reported in 5/20 individuals, including 1 with a VNS (17). Three had percutaneous endoscopic gastrostomy for nutrition (3,4,11 …”

Section: Resultsmentioning

confidence: 99%

“…Three pediatric studies have examined language (understanding and use of words) in the context of a broader neuropsychological battery and include SCN1A positive and negative cases. [2][3][4] The results are varied, ranging from cohorts with severe ID and severe language impairment to others with mild to moderate ID and borderline to average naming and comprehension.…”

mentioning

confidence: 99%

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Dysarthria and broader motor speech deficits in Dravet syndrome

et al. 2017

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Objective: To analyze the oral motor, speech, and language phenotype in 20 children and adults with Dravet syndrome (DS) associated with mutations in SCN1A.Methods: Fifteen verbal and 5 minimally verbal DS patients with SCN1A mutations (aged 15 months-28 years) underwent a tailored assessment battery.Results: Speech was characterized by imprecise articulation, abnormal nasal resonance, voice, and pitch, and prosody errors. Half of verbal patients had moderate to severely impaired conversational speech intelligibility. Oral motor impairment, motor planning/programming difficulties, and poor postural control were typical. Nonverbal individuals had intentional communication. Cognitive skills varied markedly, with intellectual functioning ranging from the low average range to severe intellectual disability. Language impairment was congruent with cognition. Conclusions:We describe a distinctive speech, language, and oral motor phenotype in children and adults with DS associated with mutations in SCN1A. Recognizing this phenotype will guide therapeutic intervention in patients with DS. Dravet syndrome (DS) is an infantile-onset developmental epileptic encephalopathy with poor outcome. Typically, a 6-month-old infant presents with febrile hemiclonic status epilepticus in the setting of reputedly normal development, and then develops multiple seizure types over the next 4 years, with developmental slowing from 1-2 years of age.1 More than 80% of cases have mutations of the sodium channel gene SCN1A. Intellectual disability (ID) is usual, with almost all patients having severe ID.Speech and language function in adults and children with DS has not been specifically characterized. Three pediatric studies have examined language (understanding and use of words) in the context of a broader neuropsychological battery and include SCN1A positive and negative cases.2-4 The results are varied, ranging from cohorts with severe ID and severe language impairment to others with mild to moderate ID and borderline to average naming and comprehension.In terms of speech (how speech sounds are produced or articulated), dysarthria and speech planning difficulties have been reported anecdotally.2,4-6 Oral motor skills have not been investigated.We aimed to determine whether there was a characteristic developmental speech, language, and oral motor phenotype in children and adults with DS associated with mutations in SCN1A. Recognition of progressive patterns of dysfunction will inform diagnosis and guide therapeutic intervention.

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Section: Cognitionmentioning

confidence: 69%

“…Mild dysphagia was reported in 5/20 individuals, including 1 with a VNS (17). Three had percutaneous endoscopic gastrostomy for nutrition (3,4,11 …”

Section: Resultsmentioning

confidence: 99%

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confidence: 99%

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Dysarthria and broader motor speech deficits in Dravet syndrome

et al. 2017

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“…Although the aim of the present study was not to correlate early and late findings, to give a whole overview of the follow up data from the previous study on early assessments (Chieffo et al, 2011) are reported in tables together with the new findings. Results concerning clinical data especially relating to epileptic features are shown in Table 1.…”

Section: Resultsmentioning

confidence: 97%

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

Ricci¹,

Chieffo²,

Battaglia³

et al. 2015

Epilepsy Research

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“…Dravet syndrome (DS) is a rare, treatment-resistant epilepsy syndrome that has its onset in infancy 1,2 and is characterized by major motor seizures, developmental delay, cognitive impairment, and an elevated risk of mortality secondary to uncontrolled seizures and sudden unexplained death in epilepsy (SUDEP) [1][2][3][4][5][6][7][8][9] . Current estimates of the incidence of DS range from one in 15,700 to one in 40,000, and more than 80% of patients have a mutation in the neuronal voltagegated sodium channel, SCN1A 10,11 .…”

Section: Introductionmentioning

confidence: 99%

Cardiovascular safety of low-dose fenfluramine in Dravet syndrome: a review of its benefit-risk profile in a new patient population

Schoonjans

Marchau

Paelinck

et al. 2017

Current Medical Research and Opinion

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Objective: Dravet syndrome (DS) is a rare, treatment-resistant epilepsy syndrome for which current treatment regimens are often ineffective. Fenfluramine is currently in development for treatment of DS, based on reports in the 1980s and 1990s of its anti-epileptic activity in pediatric patients with intractable epilepsy. However, fenfluramine was withdrawn from global markets in 1997 following reports of its association with pulmonary hypertension and heart valve disease in adult patients treated for obesity. This review was conducted to assess cardiac safety of fenfluramine when used at lower doses for treatment of DS. Methods: Pubmed was searched for clinical studies of fenfluramine in obese adults who reported incidence of heart valve disease. These data were reviewed against published results from Belgian patients with DS who have been treated with low-dose fenfluramine for up to 28 years. Results: Nine controlled studies of fenfluramine and related compounds (dexfenfluramine and/or phentermine) which assessed incidence and severity of cardiac valve disease in 3,268 treated patients and 2,017 control subjects have been reported. Mild or greater aortic valve regurgitation was found in 9.6% of treated patients compared with 3.9% of control subjects, and moderate or greater mitral valve regurgitation was found in 3.1% of treated patients and 2.5% of control subjects. Nineteen DS patients have been treated for up to 28 years with 10-20 mg/day fenfluramine, with no clinical signs or symptoms of cardiac valve disease or pulmonary hypertension. Slight and clinically unimportant changes in valve structure have been seen on echocardiography in five patients at some time during the observation period. Conclusions: A different benefit-risk relationship appears to be emerging when fenfluramine is used at low doses for extended periods in young patients with DS. Continued cardiac assessments during ongoing Phase 3 clinical trials will provide additional safety information for this potential new and effective treatment. ARTICLE HISTORY

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Neuropsychological development in children with Dravet syndrome

Cited by 65 publications

References 21 publications

Dysarthria and broader motor speech deficits in Dravet syndrome

Dysarthria and broader motor speech deficits in Dravet syndrome

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

Cardiovascular safety of low-dose fenfluramine in Dravet syndrome: a review of its benefit-risk profile in a new patient population

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