RT Journal Article
SR Electronic
T1 The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 1020
OP 1025
DO 10.1136/adc.2011.211995
VO 96
IS 11
A1 Yates, John RW
A1 MacLean, Cathy
A1 Higgins, J Nicholas P
A1 Humphrey, Ayla
A1 le Maréchal, Kate
A1 Clifford, Michelle
A1 Carcani-Rathwell, Iris
A1 Sampson, Julian R
A1 Bolton, Patrick F
YR 2011
UL http://adc.bmj.com/content/96/11/1020.abstract
AB Aims The Tuberous Sclerosis 2000 Study is the first comprehensive longitudinal study of tuberous sclerosis (TS) and aims to identify factors that determine prognosis. Mode of presentation and findings at initial assessments are reported here. Methods Children aged 0–16 years newly diagnosed with TS in the UK were evaluated. Results 125 children with TS were studied. 114 (91%) met clinical criteria for a definite diagnosis and the remaining 11 (9%) had pathogenic TSC1 or TSC2 mutations. In families with a definite clinical diagnosis, the detection rate for pathogenic mutations was 89%. 21 cases (17%) were identified prenatally, usually with abnormalities found at routine antenatal ultrasound examination. 30 cases (24%) presented before developing seizures and in 10 of these without a definite diagnosis at onset of seizures, genetic testing could have confirmed TS. 77 cases (62%) presented with seizures. Median age at recruitment assessment was 2.7 years (range: 4 weeks–18 years). Dermatological features of TS were present in 81%. The detection rate of TS abnormalities was 20/107 (19%) for renal ultrasound including three cases with polycystic kidney disease, 51/88 (58%) for echocardiography, 29/35 (83%) for cranial CT and 95/104 (91%) for cranial MRI. 91% of cases had epilepsy and 65% had intellectual disability (IQ<70). Conclusions Genetic testing can be valuable in confirming the diagnosis. Increasing numbers of cases present prenatally or in early infancy, before onset of seizures, raising important questions about whether these children should have EEG monitoring and concerning the criteria for starting anticonvulsant therapy.