Care planning

Medical 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 to avoid problems and in doing so improves their quality of life (R30).

Regular follow-up by a paediatrician, neurologist, psychologist/psychiatrist, and speech therapist will have great benefit. Assessments of development are needed to make sure every child and adult gets the medical services they need. They should be rechecked 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.
Several factors have been identified that could influence the prognosis for the person with PTHS. These include age at diagnosis, degree of intellectual disability, presence of seizures, capacity of verbal and non-verbal communications, and access to multidisciplinary medical and social care.

12.2 | Transition

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. Individuals with PTHS themselves should also be involved, as much as possible, depending on their ability to participate.
No data are available specifically for transition of individuals with PTHS. However, general principles apply, using as starting point the needs of the individual with PTHS, and based on standard healthcare for adults with intellectual disability. Early identification of the health care needs of the adult individual, and careful communication and coordination between paediatric and adult care providers are essential (R31).

12.3 | Sexuality and reproduction

Underdevelopment of external and internal reproductive organs occurs regularly in those with PTHS, such as a small penis and undescended testes in males and labial fusions, and, rarely, absent vagina and absence of uterus and ovaries in females. No data are available on fertility in either males or females. Sexual education should be provided according to suit the level of
emotional and cognitive functioning. The recommendations for the general population regarding contraceptive options should be followed, if possible adapted for persons with intellectual disability which is available in several countries (R32). The use of contraceptives to suppress menstruation in females that experience difficulties in dealing with their periods should be considered. Screening for cervical and breast cancer as well as prostate cancer should be performed according to national standards.