title: An Australian tuberous sclerosis cohort: are surveillance guidelines being met?
abstract: OBJECTIVE
  This study aims to describe the phenotypic and genotypic characteristics of 45 Australian patients with tuberous sclerosis complex (TSC), to assess risk factors for intellectual disability, to compare patients with TSC1 and TSC2 mutations and to assess adherence to surveillance recommendations.
  
  
  METHODS
  Phenotypic features were recorded in 45 patients who fulfilled established criteria for a diagnosis of definite TSC. All patients underwent TSC1 and TSC2 sequencing and multiplex ligand probe amplification. Features were compared in patients with TSC1 mutations versus TSC2 mutations. Recent surveillance was recorded at the point of first contact. Surveillance adherence was compared in the adult and paediatric cohorts.
  
  
  RESULTS
  This cohort consisted of 31 children and 14 adults with definite TSC. The rates of TSC manifestations and TSC1 and TSC2 mutation detection rates were consistent with previous studies. There was a trend towards greater severity for patients with TSC2 mutations compared with their TSC1 counterparts, particularly for autistic spectrum disorder, but this did not reach statistical significance. The presence of seizures was shown to be a risk factor for intellectual disability (P < 0.001). Overall, 12/45 patients (27%) were not undergoing recommended surveillance at the point of first contact. Surveillance guidelines were being followed in 3/31 (11%) children compared with 9/14 (64%) adult patients (P < 0.05).
  
  
  CONCLUSIONS
  The genotypic and phenotypic characteristics of this TSC cohort were consistent with previous studies. Surveillance rates in adult patients were significantly lower than in paediatric patients. This highlights the need for patients with TSC to undergo a focussed transition into adult services.
authors: The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, Australia. maya.chopra@sesiahs.health.nsw.gov.au
authors: Maya
authors: M
authors: Chopra
authors: John A
authors: JA
authors: Lawson
authors: Meredith
authors: M
authors: Wilson
authors: Sean E
authors: SE
authors: Kennedy
authors: Peter
authors: P
authors: Taylor
authors: Michael F
authors: MF
authors: Buckley
authors: Orli
authors: O
authors: Wargon
authors: Gayathri
authors: G
authors: Parasivam
authors: Christoph
authors: C
authors: Camphausen
authors: Deborah
authors: D
authors: Yates
authors: David
authors: D
authors: Mowat
mesh_terms: D000293:Adolescent; D000328:Adult; D001315:Australia / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000209:etiology*; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic / Q000235:genetics; D011159:Population Surveillance; D017410:Practice Guidelines as Topic; D012307:Risk Factors; D014402:Tuberous Sclerosis / Q000150:complications / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins