Paediatric medical follow-up

In the first year of life most children with PTHS have a low muscle tone and a delayed development. Motor skills are delayed: about one-third walk unaided between 3 to 5 years of age, and three-quarter between 6 to 10 years of age. They walk typically with a wide‐based, unsteady (in medical terms: ataxic) gait. Some may walk only with help, and still others never learn to walk on their own.  Of those who are unable to walk alone, some achieve independent mobility by using a wheelchair. 

Speech is frequently markedly delayed, with many remaining non‐verbal. Up to 55% of individuals speak single words before 10 years of age, and only a minority (less than 10%) use whole sentences. Of the 47 individuals present during the 2018 PTHS World Conference 39 used 0 to 5 words, two 10 to 20 words, and six were able to use short sentences. 

Few children develop dressing or toileting skills. One in five children will be toilet trained for urine between 11 and 15 years of age.

Growth in length and weight is usually normal at birth; less than 10% is small at birth. After birth height drops below the lowest lines in one-third of the children, and head circumference will be just below the lowest line of the curve in half of the kids. 

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 once per 6 months) by a dentist as children with developmental disabilities are more likely to have unmet dental needs (R22).

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. Repeated infections of the airways (otitis media, tonsillitis, bronchitis) and kidney and bladder have been reported in one‐third, occurring 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 immune‐globulin levels were found in three. 

Vaccinations should be given according to national schemes (R23). There are still many things not explained in infections in PTHS, and it seems wise to perform detailed immunological studies in everyone with repeated infections.

Abnormalities of heart, lungs, kidneys, liver and intestines are quite infrequent, and ultrasounds of the heart and kidneys are only indicated in case of suggestive symptoms (R24). 

One-third of boys has non descended testicles, and infrequently small or fused (glued together) labia majora, and a small womb occur in girls.  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 multidisciplinary care, and oversee the social support system surrounding the child (R25).