Checks and care in the early years


In the first year of life most children with PTHS have a low muscle tone and their development is delayed. Motor skills develop late: about one-third walk unaided between 3 to 5 years of age, and three-quarters between 6 to 10 years of age. 

They walk typically with a wide‐based, unsteady gait (ataxic gait). Some may walk only with help, and still others never learn to walk on their own. Some achieve independent mobility by using a wheelchair. 


Speech is often very delayed, with many never speaking. Up to 55% of individuals speak single words before 10 years of age, and only a minority (less than 10%) use whole sentences. 

Of  47 individuals who answered this question at the 2018 PTHS World Conference:

* 39 used 0 to 5 words

* two used 10 to 20 words and 

* six were able to use short sentences. 

Few children can dress themselves or use the toilet alone. One in five children will be toilet trained for urine between 11 and 15 years of age.

Size and growth

Growth in length and weight is usually normal at birth; under 10% of babies with PTHS are small at birth. After birth, height drops well below average in one-third of the children, and head circumference will be well below average in half of the children. 

No major teeth anomalies have been reported and teething and the loss of milk teeth occur at a normal age. Increased spacing of teeth is common. It is prudent to have children with PTHS evaluated regularly (usually every 6 months) by a dentist as children with developmental problems are more likely to have unmet dental needs.

Digestive problems

Burping (28%), reflux (38%), and constipation (80%) are common in children. During feeding they may gag, choke, and not chew properly. Some refuse food or have very strict rituals during feeding. In general, however, many are described as excellent eaters. 

Drooling is seen in 80%, usually more prominent in young children, and teeth grinding occurs in one third. 

Infections and the immune system

Repeated infections of the airways (otitis media, tonsillitis, bronchitis) and kidney and bladder have been reported in one third, mainly in childhood. 

An abnormality in the way the children and adults deal with infections (in medical terms: immunological disturbances) are reported only a few times and include low levels of several proteins needed to fight infections (in medical terms: low IgA, IgM, and IgG levels). 

Of 49 affected individuals at the 2018 PTHS World Conference immunological testing was performed in seven, and abnormalities in levels of antibodies which help fight infections (immune‐globulin levels) were found in three. 

Children should have the usual vaccinations that are offered nationally. There are still many unanswered questions regarding  infections in PTHS, and it seems wise for doctors to perform detailed immunological studies in everyone who experiences repeated infections.

It’s unusual for a child to have abnormalities with their heart, lungs, kidneys, liver and intestines. Only children with symptoms should have ultrasounds of the heart and kidneys. In one third of boys the testicles have not descended. Infrequently girls have small or fused (glued together) labia majora, and a small womb. As far as we know now puberty develops at a normal age and pace.

The paediatrician, preferably one with experience in PTHS, should play a central role in the clinical care for children with PTHS. He or she should regularly check for health problems (surveillance), coordinate care from other health care professionals, and oversee the child’s whole social support system.


22/ Children with PTHS should have regular check-ups for their teeth.

23/ Vaccinations should be given to every child with PTHS according to national guidelines.

24/ Ultrasounds of heart and kidneys should be done only in children showing signs or symptoms that would suggest there is an abnormality of the heart or kidneys.

25/ Every child with PTHS needs regular follow‐up, preferably by a paediatrician familiar with PTHS.

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