SECTION 11: ADULT MEDICAL FOLLOW-UP
Checks and care for adults
Height and weight
About one-fifth of adults is just below the expected height. There are no reports of related hormonal (endocrine) issues such as shortage of growth hormone or abnormal functioning of the thyroid gland.
Some become somewhat overweight as time goes on, but excessive weight gain is not often a problem in most with PTHS. A quarter of adults have a slightly smaller than normal head (microcephaly). Adult facial characteristics do not change much from those in in infancy.
Digestive problems
Feeding problems are not common in adults with PTHS. Problems with drinking and swallowing solids is seen in about 10%. Constipation is very common and occurs in three-quarter of adults (LINK). Gastroesophageal reflux is present in one-third and usually responds well to anti-reflux medicine.
Flat feet (pes planus) and turned out feet (pes valgus) are seen in half of the adults. These should be checked, as orthopaedic shoes or other orthotic devices, physiotherapy, or other specific treatments may be needed. When an adult with PTHS has limited mobility, physiotherapy is required to prevent the mobility to become permanently affected (contractures).
Other, usually less important, problems include overriding toes, a curved spine (scoliosis), and limited thumb mobility.
Although frequent infections are not common, urinary tract infections can be missed or show up as unusual behaviour changes.
Adults with PTHS have widely spaced teeth. Many grind their teeth and drooling is seen often. A protruding jaw (prognathism) may develop and can cause problems with chewing. Advice from a speech therapist may be helpful. If there are unexplained behavioural changes, the teeth should be checked as they could be a cause of pain.
In about a third of those with PTHS genital differences are seen such as undescended testes (cryptorchidism), a small penis, and unusual labia. Adult males should be checked for undescended testes, as this may have been missed when they were younger. This can be managed as in the general population.
It is hard to give an accurate idea of the life span of someone with PTHS as only few older people have been diagnosed, and most are still young adults. It is thought that they will have a typical life span. Three adults are known who have developed a form of cancer: two with Hodgkin lymphoma, and one with medulloblastoma; there is also a child with a rhabdomyosarcoma.
It is uncertain whether there is a relation between these types of cancer and Pitt-Hopkins, as this can well be explained by coincidence. We don’t have information on diseases associated with older age, such as cardiovascular functioning, osteoporosis, and dementia in adults with PTHS.
Recommendations
26/ Special shoes or ankle foot devices (known as ankle foot orthoses or AFOs) should be looked at to improve the stability and mobility of those with PTHS.
27/ When there is a change of behaviour in someone with PTHS it could be caused by pain and there should be careful physical exams for constipation, infections and dental problems.
28/ A speech therapist can advise on dealing with issues such as drooling and chewing.
29/ Every male with PTHS should be checked to see that both testes have come down into the scrotum. If they haven’t, the treatment should be the same as in the general population.
