Cognition

Cognition

TCF4 is necessary for the development of the nervous system and it plays an important role in cognition (learning) and behaviour. Children and adults with PTHS often have problems with filtering the stimuli coming from outside their body and within. If parents and caregivers manage to make the environment quieter (‘filtering’) the children and adults will more easily get the really relevant information, are no longer overloaded with information, and often have less behavioural problems as well.

Identifying suitable assessment tools for the PTHS population is difficult. Still, all with PTHS in publications show moderate to severe intellectual disability. In most reported people with PTHS their developmental ages range from 9 to 36 months (mean 14 to 16 months). A mild cognitive delay has been reported in some, but they had unusual changes in the gene but when assessed more carefully it is clear they do not have PTHS.

People with PTHS have mild to severe motor learning problems like with rolling, sitting and walking, and often make repeated movements such as hand clapping and flapping, repeated hand to mouth movements, head shaking, head banging, body rocking, washing, finger crossing, and rubbing toes together. Motor milestones and self-care skills like feeding themselves are delayed (see Section 10). Very few learn to dress themselves or use the toilet on their own. It has been seen that many can help with dressing, like unzipping their coats. Skills can continue to develop as they get older. In very few older people this ability was lost. Once someone is diagnosed with PTHS, they should have developmental assessments to work out the services and educational solutions they need to help with their development (see also section 10) (R33).