SECTION 12: CARE PLANNING
Planning lifelong care
It is important that everyone with PTHS has lifelong care from a team of medical professionals, each with a different specialty. This holistic approach to healthcare helps avoid problems and improves their quality of life.
Regular follow-up by a paediatrician, neurologist, psychologist/psychiatrist, and speech therapist will have great benefit.
Children and adults need to have their development assessed to make sure they get all the medical services they need. They should be re-checked from time to time by a physician who is coordinating their care, or by a clinical geneticist who knows most up to date medical information about PTHS.
Information booklets designed to give guidance on syndrome-specific issues (intellectual and physical disabilities) and family support groups are helpful.
There are several factors that could influence the outcome (prognosis) for someone with PTHS. These include: their age when they were diagnosed, their degree of intellectual disability, whether they have epileptic seizures, how well they can communicate, verbally or non-verbally, and their access to multidisciplinary medical and social care.
Transition from child to adult care
Transition of care is an important aspect of the care of adolescents and young adults, due to the rapid changes involved in their physical growth, sexuality, environment, and development of independence depending on their skills.
Transition should be a purposeful and planned change, and the involvement of parents is an essential part of this process. The person with PTHS should be involved as much as possible, depending on their ability to participate.
There is no research information specifically about transition. However, general principles apply, using as starting point the needs of the individual with PTHS, and based on standard health care for adults with intellectual disability.
Identifying the health care needs of the person with PTHS and careful communication and coordination between paediatric and adult care providers are essential.
Sexuality and reproduction
The external and internal reproductive organs of people are often underdeveloped in people with PTHS. For example, in males, a small penis and undescended testes and, in females, labial fusions, and, rarely, no vagina, uterus or ovaries. No data are available on fertility in either males or females.
Someone with PTHS should receive sex education that is tailored to suit their level of emotional and cognitive functioning. National recommendations for the general population regarding contraceptive options should be followed, if possible adapted for persons with intellectual disability. In several countries there are special standards for this information for people with an intellectual disability.
If a female with PTHS is finding it difficult to deal with her periods, doctors should consider prescribing contraceptives to suppress menstruation. Females and males should have the usual screening for cervical and breast cancer as well as prostate cancer.
30/ People with PTHS and their families require lifelong care, preferably provided by a multidisciplinary healthcare team. Adults should have as a minimum an annual health check carried out by their family doctor
31/ Preparations for transition of care from child to adult services should start early, even in puberty. Transition should include early and careful handing over of all information that is available on the child with PTHS, including medical information and information on behaviour.
32/ Information on sex and contraception should be offered to every adult with PTHS. If it is available, the special standards for this for individuals with intellectual disability should be used. If unavailable, the information for the general population can be used.