Tuberous sclerosis: Clinical characteristics and their relationship to genotype/phenotype

Monteiro, Tânia; Garrido, Carmen; Pina, Sofia; Chorão, Rui; Carrilho, Inês; Figueiroa, Sónia; Santos, Manuela M.; Temudo, Teresa

doi:10.1016/j.anpede.2014.03.001

Cited by 10 publications

(15 citation statements)

References 22 publications

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“…Clinical, genetic and neuroimaging data of our cohort were similar to those of other series . Interestingly, we found cerebellar lesions in six (19%) patients; in the literature this finding varies from 8% to 44% .…”

Section: Discussionsupporting

confidence: 88%

“…Clinical, genetic and neuroimaging data of our cohort were similar to those of other series. 1,16,17 Interestingly, we found cerebellar lesions in six (19%) patients; in the literature this finding varies from 8% to 44%. [18][19][20][21][22] In our series, cerebellar lesions were clearly associated with TSC2 mutations (83%), whereas TSC1 mutations were not found in these patients.…”

Section: Discussionmentioning

confidence: 55%

“…Our study showed a correlation between psychopathology and the neurological clinical picture, confirming that TAND prevailed in patients with severe neurological and epilepsy outcome. In fact, the presence of intellectual disability, high frequency of seizures, and drug‐resistant epilepsy are known risk factors for the development of behavioural diseases . The only exception is represented by depressive disorders, revealed only by the TAND checklist (and not by the CBCL) in patients without intellectual disability.…”

Section: Discussionmentioning

confidence: 99%

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Tuberous sclerosis‐associated neuropsychiatric disorders: a paediatric cohort study

Toldo

Brasson

Miscioscia

et al. 2018

Develop Med Child Neuro

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Aim We aimed to study tuberous sclerosis‐associated neuropsychiatric disorders (TAND) in children and adolescents with tuberous sclerosis complex (TSC). Method Retrospective and prospective cohort study conducted at a Paediatric Neurology Unit of an Italian Tertiary Care Hospital. Clinical and neuroimaging data were reviewed. Scores for neurological and epilepsy outcomes (Extended Glasgow Outcome Scale, Paediatric Version and Early Childhood Epilepsy Severity Scale modified), semi‐structured interviews (authorized Italian version of the TAND checklist and Vineland Adaptive Behavior Scales) and questionnaires (Child Behavior Checklist [CBCL]) were applied at last follow‐up. Results Thirty‐two patients with TSC (age range 1–19y) were enrolled. Eighty‐eight per cent had at least one TAND and 47% had intellectual disability. The TAND checklist showed internalizing problems in 25.8% of cases (vs 41.9% by CBCL), and externalizing problems in 41.9% (vs 9.7% by CBCL). TAND prevailed in patients with de novo mutation of TSC2, high tuber load, and severe neurological and epilepsy outcomes. Interpretation In our cohort, 78% of patients had more than four TAND behavioural problems; nevertheless, they did not show a constant and specific neuropsychiatric profile. Clinical, neurophysiological, and neuroradiological features were associated with several TAND. The TAND checklist appeared more effective than the CBCL, particularly in detecting externalizing problems. What this paper adds The Tuberous sclerosis‐associated neuropsychiatric disorders (TAND) checklist is an effective tool for TAND screening. The TAND checklist helps define psychopathological and neuropsychiatric aspects in paediatric patients with Tuberous sclerosis complex (TSC). TAND were found in 88% of patients with TSC, whilst 78% had more than four TAND. TAND distribution depends on different clinical and neuroradiological features.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 55%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Tuberous sclerosis‐associated neuropsychiatric disorders: a paediatric cohort study

Toldo

Brasson

Miscioscia

et al. 2018

Develop Med Child Neuro

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“…A prevalência e a época de início encontradas são condizentes com a literatura 6,14,15 . Diferentes tipos de crises convulsivas são encontrados em pacientes com CET, sendo crises parciais tradicionalmente descritas como mais comuns devido à patologia cerebral focal, isto é, pelos túberes 6 .…”

Section: Discussionunclassified

“…A literatura tradicionalmente relata taxa desse tipo de crise em um terço dos pacientes com CET 6,16 . Há, no entanto, descrições de taxas mais próximas (51 e 53%) a que foi encontrada no presente estudo [15][16][17] .…”

Section: Discussionunclassified

Perfil neuropsiquiátrico de crianças, adolescentes e jovens adultos com complexo de esclerose tuberosa

Schwind

Cardozo

Antoniuk

et al. 2017

SDH

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Objetivo: avaliar alterações neuropsiquiátricas e avaliar fatores associados a déficit intelectual em pacientes com Complexo de Esclerose Tuberosa (CET).Métodos: estudo transversal com 20 pacientes com diagnóstico de CET em um centro de neurologia pediátrica, avaliados por entrevista, prontuário, Escalas Wechsler de Inteligência, Escala Childhood Autism Rating Scale e Questionário Child Behavior Checklist /Adult Self Report. Foi realizada análise descritiva para caracterização das variáveis e os testes Mann-Whitney U e Teste de Fisher para comparação de grupo sem e com déficit intelectual.Resultados: Noventa e cinco por cento dos participantes apresentou epilepsia, 45% déficit intelectual e 25% autismo. Encontraram-se ainda manifestações clínicas de problemas de conduta, ansiedade e personalidade esquiva. Houve relação significativa entre déficit intelectual e as seguintes variáveis: número de medicamentos para controle da epilepsia (p=0,002), uso de benzodiazepínicos associados a anticonvulsivantes no tratamento da epilepsia (p=0,005) e autismo (p=0,008).Conclusões: Foi encontrada alta prevalência de epilepsia, déficit cognitivo e manifestações psiquiátricas, condizente com descrições da literatura atual. O déficit intelectual mostrou-se associado a um maior número de fármacos no controle de epilepsia e ao autismo.

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Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement

Ranke

Zanetti

Silva

et al. 2015

Lung

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Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disease with high phenotypic variability. The incidence is approximately one in 5000-10,000 births. TSC is characterized by widespread hamartomas and benign or rarely malignant neoplasms affecting various organs, most commonly the brain, skin, retinas, kidneys, heart, and lungs. The wide range of organs affected reflects the roles of TSC1 and TSC2 genes in the regulation of cell proliferation and differentiation. Clinical diagnostic criteria are important because genetic testing does not identify the mutation in up to 25% of patients. Imaging is pivotal, as it allows a presumptive diagnosis of TSC and definition of the extent of the disease. Common manifestations of TSC include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis (LAM), renal angiomyolipoma, and skin lesions. Pulmonary involvement consists of LAM and, less commonly, multifocal micronodular pneumocyte hyperplasia (MMPH), which causes cystic and nodular diseases, respectively. Recent reports indicate that pulmonary LAM is found by computed tomography in up to 35% of the female patients with TSC. MMPH is rare and may be associated with LAM or, less frequently, occurs as an isolated pulmonary manifestation in women with TSC. Dyspnea and pneumothorax are common clinical presentations of LAM, whereas MMPH is usually asymptomatic. The aim of this review is to describe the main clinical, imaging, and pathological aspects of TSC, with a focus on pulmonary involvement.

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Tuberous sclerosis: Clinical characteristics and their relationship to genotype/phenotype

Cited by 10 publications

References 22 publications

Tuberous sclerosis‐associated neuropsychiatric disorders: a paediatric cohort study

Tuberous sclerosis‐associated neuropsychiatric disorders: a paediatric cohort study

Perfil neuropsiquiátrico de crianças, adolescentes e jovens adultos com complexo de esclerose tuberosa

Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement

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