Diagnosis of tuberous sclerosis complex in the fetus

Dragoumi, Pinelopi; O’Callaghan, Finbar; Zafeiriou, Dimitrios I.

doi:10.1016/j.ejpn.2018.08.005

Cited by 53 publications

(48 citation statements)

References 72 publications

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“…[9][10][11] Prenatal or early postnatal diagnosis of TSC, before the onset of seizures, is currently possible in a growing number of cases, by detecting cardiac rhabdomyomas and cortical tubers. 12 Therefore, close follow-up of all newborns/ infants with TSC using repeated standardized neurodevelopmental tests and video EEG recordings at key developmental time points has been strongly recommended. [13][14][15][16] It has been shown that IED may correctly predict the onset of clinical seizures 17,18 and that early detection and prompt control of seizures can mitigate the severity of long-term neurodevelopmental outcomes, with lower rates of ID and ASD.…”

Section: Introductionmentioning

confidence: 99%

Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?

Moavero

Kotulska

Lagae

et al. 2020

Ann Clin Transl Neurol

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Objective To evaluate the relationship between age at seizure onset and neurodevelopmental outcome at age 24 months in infants with TSC, as well as the effect on neurodevelopmental outcome of early versus conventional treatment of epileptic seizures with vigabatrin (80–150 mg/kg/day). Methods Infants with TSC, aged ≤4 months and without previous seizures were enrolled in a prospective study and closely followed with monthly video EEG and serial standardized neurodevelopmental testing (Bayley Scales of Infant Development and Autism Diagnostic Observation Schedule). Results Eighty infants were enrolled. At the age of 24 months testing identified risk of Autism Spectrum Disorder (ASD) in 24/80 children (30.0%), and developmental delay (DD) in 26/80 (32.5%). Children with epilepsy (51/80; 63.8%) had a higher risk of ASD (P = 0.02) and DD (P = 0.001). Overall, no child presented with moderate or severe DD at 24 months (developmental quotient < 55). In 20% of children abnormal developmental trajectories were detected before the onset of seizures. Furthermore, 21% of all children with risk of ASD at 24 months had not developed seizures at that timepoint. There was no significant difference between early and conventional treatment with respect to rate of risk of ASD (P = 0.8) or DD (P = 0.9) at 24 months. Interpretation This study confirms a relationship between epilepsy and risk of ASD/DD. However, in this combined randomized/open label study, early treatment with vigabatrin did not alter the risk of ASD or DD at age 2 years.

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Section: Introductionmentioning

confidence: 99%

Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?

Moavero

Kotulska

Lagae

et al. 2020

Ann Clin Transl Neurol

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“…All 38 patients who had prenatal cardiac rhabdomyoma were eventually diagnosed with TSC during the follow-up period. Given the high rate of diagnosis of TSC following presentation with prenatal cardiac rhabdomyoma, it seems that more emphasis on the surveillance for other TSC features in these patients may be warranted [7].…”

Section: Discussionmentioning

confidence: 99%

“…As multimodal imaging has improved, TSC can be diagnosed prenatally if there are any of the following: cardiac rhabdomyomas, cortical tubers, subependymal nodules, and renal angiomyolipomas [5]. However, the presence of fetal cardiac rhabdomyoma alone is not diagnostic of TSC and the diagnostic rate of TSC in patients with fetal cardiac rhabdomyoma is still unknown [6,7].…”

Section: Introductionmentioning

confidence: 99%

Diagnosis of Tuberous Sclerosis Complex and Epilepsy Outcomes in Children with Fetal Cardiac Rhabdomyoma: A Long Term Follow-up Study

Kim

You

et al. 2019

Ann Child Neurol

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Purpose: Prenatal diagnosis of cardiac rhabdomyoma is suggestive of the presence of tuberous sclerosis complex (TSC), which is commonly associated with epilepsy. This study investigated the diagnostic rate of TSC, the incidence and treatment outcomes of epilepsy, and long-term neurodevelopmental outcomes in children with fetal cardiac rhabdomyoma. Methods: We retrospectively reviewed the medical records of 50 patients with fetal cardiac rhabdomyoma between 1995 and 2017 at the Asan Medical Center Children's Hospital. Twelve patients were excluded because of incomplete data or a follow-up of less than 1 year. Patients' medical records were assessed for the occurrence of epilepsy during follow-up, including treatment and outcomes, electroencephalography and magnetic resonance imaging, genetic analysis findings, and neurodevelopmental status. Results: Thirty-eight patients (23 males) were diagnosed with TSC. Twenty-eight (73.7%) developed epilepsy. Infantile spasms were observed in 22 patients (78.6%), and 21 (95.5%) received vigabatrin as the first treatment, achieving subsequent freedom from seizures. At the final evaluation, 17 patients (60%) were seizure-free for over 12 months. Seizure remission was not associated with seizure onset age, the presence of cortical tubers, or TSC1/2 mutations. Patients with epilepsy had a higher prevalence of poor neurodevelopmental outcomes than did those without epilepsy (P=0.008). Conclusion: A high TSC diagnostic rate and a high incidence of early-onset epilepsy were observed in patients with prenatal cardiac rhabdomyoma, and children with TSC and epilepsy showed poor neurodevelopmental outcomes. Therefore, monitoring with electroencephalography follow-up of infants with fetal cardiac rhabdomyoma may be helpful for the early detection and treatment of epilepsy.

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“…TSC is caused by pathogenic variants within the TSC1 or TSC2 gene, which regulate cell growth and proliferation, and affected individuals develop benign tumors in various tissues and organs. Neurological manifestations include epilepsy, autism, cognitive and behavioral dysfunction and giant cell tumors.…”

mentioning

confidence: 99%

“…Fetal cardiac rhabdomyoma can be diagnosed by prenatal ultrasound. If present, further studies to confirm fetal TSC may be indicated, including fetal magnetic resonance imaging (MRI) to document or exclude cerebral manifestations which may escape prenatal ultrasound, and invasive fetal genetic testing.…”

mentioning

confidence: 99%