☆ 4.5 Article

Prenatal diagnosis and intervention improve developmental and epilepsy outcomes in children with tuberous sclerosis

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2023)

Related references

Note: Only part of the references are listed.

Article Neurosciences

Quality of life in children with tuberous sclerosis complex: A pediatric cohort study

Yifeng Ding et al.

Summary: This study is the first large cohort study on quality of life in children with TSC in China. The results indicated that the quality of life of children with TSC is significantly lower than that of healthy controls. TSC2 mutation, epilepsy, early onset, long disease course and high reported seizure frequency, intellectual disability, and TANDs are risk factors for poor quality of life.

CNS NEUROSCIENCE & THERAPEUTICS (2021)

Add to Collection

Article Pediatrics

Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex

Hanna M. Hulshof et al.

Summary: Fetal cerebral lesion scores are significantly associated with neurodevelopment and autism spectrum disorder (ASD) at 2 years in children with TSC, but not with epilepsy characteristics.

JOURNAL OF PEDIATRICS (2021)

Add to Collection

Article Clinical Neurology

Correlation between epilepsy and genotype: A large retrospective tuberous sclerosis complex cohort

Yifeng Ding et al.

Summary: This study described the first large cohort of the Chinese TSC population, finding that TSC2 gene variants were associated with more severe epileptic phenotypes, including a younger age at epilepsy onset. Individuals with variants occurring in TSC2 functional domains were more prone to epilepsy and had a younger age at epilepsy onset.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2021)

Add to Collection

Article Genetics & Heredity

Assessment of tuberous sclerosis-associated neuropsychiatric disorders using the MINI-KID tool: a pediatric case-control study

Yifeng Ding et al.

Summary: The study assessed the psychiatric level of individuals with TAND in China using the MINI-KID tool, revealing high rates of neuropsychiatric co-morbidities, particularly in individuals with TSC. The research showed that a significant number of patients with TSC have multiple psychiatric disorders, with PDD often co-morbid with other psychiatric disorders.

ORPHANET JOURNAL OF RARE DISEASES (2021)

Add to Collection

Article Pediatrics

A Multidisciplinary Approach in Prenatal Diagnosis of TSC With Cardiac Rhabdomyoma as the Initial Symptom

Yiming Qi et al.

Summary: The study integrated detailed parental phenotype, echocardiography, neuro MRI, and genetic information to evaluate 61 fetuses with cardiac rhabdomyoma (CR). Fetuses with pathogenic (P)/likely pathogenic (LP) TSC1/TSC2 variations showed high rates of multiple CRs and cerebral lesions, with genetic evidence and cerebral MRI findings being sensitive indices for assessing long-term prognosis.

FRONTIERS IN PEDIATRICS (2021)

Add to Collection

Review Clinical Neurology

An update on the central nervous system manifestations of tuberous sclerosis complex

Jennifer A. Cotter

ACTA NEUROPATHOLOGICA (2020)

Add to Collection

Article Clinical Neurology

Long-term cognitive outcomes in tuberous sclerosis complex

Charlotte Tye et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2020)

Add to Collection

Article Genetics & Heredity

Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study

Yifeng Ding et al.

FRONTIERS IN GENETICS (2020)

Add to Collection

Article Obstetrics & Gynecology

Prenatal ultrasound and magnetic resonance evaluation and fetal outcome in high-risk fetal tumors: A retrospective single-center cohort study over 20 years

Barbara Ulm et al.

ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA (2020)

Add to Collection

Article Clinical Neurology

Sirolimus improves seizure control in pediatric patients with tuberous sclerosis: A prospective cohort study

Wen He et al.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2020)

Add to Collection

Article Acoustics

Fetal cardiac tumor: echocardiography, clinical outcome and genetic analysis in 53 cases

J. Chen et al.

ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2019)

Add to Collection

Article Genetics & Heredity

Clinical and genetic description of patients with prenatally identified cardiac tumors

Luisa F. Mariscal-Mendizabal et al.

PRENATAL DIAGNOSIS (2019)

Add to Collection

Article Genetics & Heredity

Long-term efficacy and safety of sirolimus therapy in patients with lymphangioleiomyomatosis

Siqi Hu et al.

ORPHANET JOURNAL OF RARE DISEASES (2019)

Add to Collection

Article Clinical Neurology

Early predictors of clinical and mental outcome in tuberous sclerosis complex: A prospective study

Barbora Benova et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2018)

Add to Collection

Article Pediatrics

Prenatal and Postnatal Diagnosis of Rhabdomyomas and Tuberous Sclerosis Complex by Ultrafast and Standard MRI

Ying Zhou et al.

INDIAN JOURNAL OF PEDIATRICS (2018)

Add to Collection

Letter Medicine, General & Internal

Maternal Sirolimus Therapy for Fetal Cardiac Rhabdomyomas

Benjamin T. Barnes et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Add to Collection

Article Dermatology

Sirolimus Gel Treatment vs Placebo for Facial Angiofibromas in Patients With Tuberous Sclerosis Complex A Randomized Clinical Trial

Mari Wataya-Kaneda et al.

JAMA DERMATOLOGY (2018)

Add to Collection

Review Genetics & Heredity

A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

Petrus J. de Vries et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2018)

Add to Collection

Editorial Material Cardiac & Cardiovascular Systems

Foetal and maternal cardiac rhabdomyomas associated with tuberous sclerosis

Nath Zungsontiporn et al.

EUROPEAN HEART JOURNAL (2016)

Add to Collection

Article Clinical Neurology

Sirolimus for epilepsy in children with tuberous sclerosis complex: A randomized controlled trial

Iris E. Overwater et al.

NEUROLOGY (2016)

Add to Collection

Article Genetics & Heredity

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards et al.

GENETICS IN MEDICINE (2015)

Add to Collection

Review Oncology

Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex

Alex Rovira et al.

JOURNAL OF NEURO-ONCOLOGY (2014)

Add to Collection

Article Clinical Neurology

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Hope Northrup et al.

PEDIATRIC NEUROLOGY (2013)

Add to Collection

Article Pediatrics

The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management

John R. W. Yates et al.

ARCHIVES OF DISEASE IN CHILDHOOD (2011)

Add to Collection

Article Pediatrics

MORBIDITY ASSOCIATED WITH TUBEROUS SCLEROSIS: A POPULATION STUDY

David W. Webb et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)

Add to Collection

Article Clinical Neurology

Comparative predictive validity of the Harris Infant Neuromotor Test and the Alberta Infant Motor Scale

Susan R. Harris et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)

Add to Collection

Article Obstetrics & Gynecology

Prenatal molecular diagnosis of tuberous sclerosis complex

Aubrey Milunsky et al.

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2009)

Add to Collection

Article Clinical Neurology

Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients

I Jambaqué et al.

EPILEPSY RESEARCH (2000)

Add to Collection

© Peeref 2019-2024. All rights reserved.