Senses

Which problems occur with eyesight? How often should this be checked? Which occur with hearing and how often should these be checked? Are there problems with other senses such as smell, feeling temperature and pain?

7.1 Vision

The structure of the eyes (lens, iris) of PTHS children is usually normal. About 10% of children may have blocked tear ducts. If it causes prolonged problems, it can be treated in the usual way.
Sight issues are common, with about 2/3rd of PTHS kids needing glasses, frequently before the age of 2 years. Short-sightedness (50%), strabismus (cross-eyed, 45%) and nystagmus (eyes rapidly moving side to side, 14%) are the most common problems. Rarely a slow reaction of wide pupils to light occurs. As sight problems are so common in PTHS, every child should be seen at a young age and regularly followed up by an ophthalmologist (R13).

7.2 Hearing

Hearing loss is not very common (10%) in PTHS. Still, as it is so important for speech development, it is wise to check the hearing in all children with PTHS (R14). There are tests that can be carried out that do not need any type of feedback from the child (in medical terms: optoacoustic emission and auditory evoked potential), so testing can be done reliably in every child, also the ones who are not willing or able to cooperate.. 

7.3 Other senses

Smell

There have not been any studies of the sense of smell in children with PTHS. Maybe some have a decreased sense of smell and others are sensitive to some smells, but this is not yet certain.

Pain

Recognising and dealing with pain is challenging in children and adults with PTHS as the majority cannot tell us this. Apparently, they can react in a different way to pain. Some parents have said that their child is more bothered by and sensitive to minor pain, such as a small scrape or cut, while they seem less bothered by something others would find far more painful such as pain after surgery. Others are showing less pain anyway. This is important to realize if the behaviour of a child has changed as for instance a fracture can go unnoticed (R15). It can be that the cause is a different pain sensation: the gene, TCF4, makes a protein that works in pain signalling in the Pitt-Hopkins mouse.
There are questionnaires such as the FLACC that have been developed to recognise and assess pain in children with special needs and it is advised they are used with children with PTHS if there is any doubt whether or not someone has pain (R15).

Recommendations
R13 Every child with PTHS should have their eye-sight checked on diagnosis and then regularly monitored

R14 Hearing should be tested regularly in everyone with PTHS.

R15 Parents and carers should be aware of the various types of pain felt by those with PTHS; if in doubt specific questionnaires can be used to assess pain.