TSC: An Overview Of Treatment & Management

TSC an Overview of Treatment & Management Dr Chris Kingswood Brighton UK

Advances in Tuberous Sclerosis: From Pathway to Therapy Medical and Family Conference 3 – 4 November 2007 Sydney Children’s Hospital Randwick For more information: www.atss.org.au

Treatment & Management ,[object Object],[object Object],[object Object]

The Solution ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

TSC Timeline Kidneys, Lungs 20s-30s+ SEGA, Kidneys Teens Behaviour, LD, Skin Pre-Teens Seizures, Insomnia Infancy Cardiac Pre/Neonatal

Checklist 1 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Checklist 2 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Checklist 3 ,[object Object],[object Object]

Neurological complications ,[object Object],[object Object]

Neurodevelopmental manifestations ,[object Object],[object Object]

Psychopathologies ,[object Object],[object Object],[object Object],[object Object],[object Object]

Psychosocial complications ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Specific scholastic difficulties (reading, writing, spelling, mathematics) ADHD and related disorders Peer problems Aggressive behaviours Best time to establish baseline to assess whether specific cognitive skills and scholastic performance is discrepant from global intellectual abilities Poor expressive language and word retrieval Rote learning difficulties Selective attention, sustained attention difficulties Global cognitive abilities Specific cognitive skills: Receptive and expressive language Social communication skills Memory Attentional-executive skills Visuospatial skills Motor skills Monitoring the child’s ability to make appropriate educational progress 6y – 8y Early school years Asperger’s Syndrome Peer problems Scholastic difficulties (reading, writing, spelling, mathematics) Subtle deficits of social communications. Unusual interests. Poor short term & episodic memory. Difficulties with planning, organisation & multitasking. Global cognitive abilities Specific cognitive skills: Receptive and expressive language Social communication skills Memory Attentional-executive skills Complete review of child’s abilities, specific learning difficulties and behavioural problems in preparation for the transition to secondary education 9y – 12y Middle school years Autism and ASD ADHD and related disorders Self-injurious behaviour Uneven profile of abilities Poor expressive language Poor reciprocity, peer interaction Poor regulation of affect and impulse Poor bilateral co-ordination ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],To identify early developmental delay or developmental disorders 1y – 2y11m Toddler Impact of seizure onset and treatment on development Global standardised assessment of infant development To perform a baseline assessment for regular monitoring of development Birth – 12 months Infancy As listed for chronological age Initial assessment of cognitive and behavioural profile At diagnosis *Behavioural and learning problems of particular concern in TSC *Areas of particular concern in TSC: General areas to assess General purpose of assessment Age range for assessment Assessment stage

Abbreviations: ASD = autism spectrum disorders; ADHD = attention deficit hyperactivity disorder * Many features listed in these columns can present at any age, but are listed here at stages most commonly associated with the emergence of such difficulties in TSC Depressive disorders Anxiety disorders Epilepsy-related psychotic disorders Pay particular attention to change in cognitive abilities or behaviour Pay particular attention to change in cognitive abilities, vocational performance and behaviour Dependent adults: Annual review of social care needs and support Independent adults: Vocational advice Genetic counselling as appropriate Review if problems arise Monitoring for emergence of psychiatric problems or changes in existing cognitive and behavioural difficulties 18y+ Adults (follow-up) Depressive disorders Anxiety disorders Epilepsy-related psychotic disorders Difficulty with integrational skills Working memory, episodic memory problems ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],*Behavioural and learning problems of particular concern in TSC *Areas of particular concern in TSC: General areas to assess General purpose of assessment Age range for assessment Assessment stage

Skin lesions ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Kidney manifestations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Renal AMLs ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Haemorrhage ,[object Object],[object Object],[object Object]

Patients with serially measured AMLs n = 52 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Are larger AMLs more likely to bleed? X 2 = 16.1 P < 0.001

Mean Reduction in Sum LDs of Target AMLs 9.6 11.3 9.9 S.D. 26.1 17.9 14.1 Mean Reduction in sum LD (%) 12 Months 6 Months 2 Months

PKD ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Renal cell carcinoma ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Pulmonary complications ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Unresolved Questions ,[object Object],[object Object],[object Object]

AML Summary ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Dental problems ,[object Object],[object Object],[object Object]

Other Organs ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Other Issues ,[object Object],[object Object]

Other Issues ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Recommendations ,[object Object],[object Object],[object Object]

Conclusions ,[object Object],[object Object]

TSC: An Overview Of Treatment & Management

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TSC: An Overview Of Treatment & Management