Please see our page on useful resources to do with Autism: Autism & Developmental Delays
There is information on our On Diagnosis page about testing that can be done to predict whether an unborn baby is affected by PHTS or not. If you are thinking about having a baby, Pre-implantation Genetic Diagnosis (PGD) is an option available to prevent passing on PHTS to future children. Speak to your genetic specialist who […]
You can find information on cancer risks for PHTS patients on our Screening Guidelines page with further information being available on our On Diagnosis page and in our PTEN Overview Video. With PHTS being such a rare disease and there being only a small amount of data available currently, there are differences in opinion on the […]
There are plenty of older people alive with the condition, but there is no official statistical data available currently. Diagnosis and appropriate screening enables early detection and treatment of any health problems that arise improving patient outcomes.
PHTS has a broad spectrum of issues and severity. Common symptoms of PHTS are described in detail on our On Diagnosis page, but include things such as a large head (macrocephaly), developmental delay (both physical and mental), autism and potentially cancers usually in later life.
Please ask for a referral from your GP, or if you are already in contact with a Genetics department or counsellor, you may be able to contact them directly. This can be done at anytime, whether on diagnosis or a long time after diagnosis. From our Useful Resources page, you can get information such as – […]
There are several Helpline numbers available on our Useful Resources page, along with some links under the Resources section to e.g. genetic counselling services, Young Mind’s guide to NHS mental health services, Mind’s guide on coping with supporting someone, Unique’s guide to dealing with what happens after diagnosis, and what local support may be available.
There are a number of links and contact details on our Useful Resources page, there are various resources available such as Help Lines, relevant websites, social media links, online leaflets and screening guidelines. Our private Facebook Group is a good place to ask other patients and families about their experiences, if you are interested you can […]
Please take a look at our Screening Guidelines page for the latest information. These are guidelines and your doctor will tailor your screening needs based on your specific circumstances and medical history.
If you are newly diagnosed with PHTS, we’d recommend checking out the following resources on our website – – the New to PHTS page: http://ptenuki.org/patients/new-to-phts/, – the On Diagnosis page: http://ptenuki.org/patients/on-diagnosis/, and – the PTEN Overview Video by Dr Katherine Lachlan: https://ptenuki.org/pten-overview-video/ We would also recommend joining our private Facebook group which is where most […]