What is the research about?

Fragile X Syndrome (FXS) is a condition in which approximately 85% of males have an intellectual disability, and 25% of females do.  FXS also accounts for approximately 2 to 5% of all individuals diagnosed with ASD, with about 60% of males having the condition. Children and adults with FXS also have many medical problems, which include complications with the heart, ears, brain, eyes, gastrointestinal (GI) system, and sleep disorders. Identifying and treating these conditions is important to the health and overall well-being of people with FXS.

What did the researchers do?

The researchers reviewed the literature about FXS to find information about the various medical problems that people with FXS may have. Their intention was to provide information to clinicians trying to provide thorough care to their patients with FXS.

What did the researchers find?

The researchers found that children and adults with FXS have

Otitis media (OM), an ear infection, and although 85% of FXS children get OM, they often do not complain about ear pain because of their high pain threshold. So, ear exams are necessary in children with FXS, because recurrent OM can cause hearing and behavioural problems, and should be treated aggressively, usually with antibiotics.

Seizures, which are common, and parents should be educated on how to recognize them. Clinicians need to monitor these children closely, as seizures can usually be managed well with medications.

Mitral valve prolapse (MVP), a heart condition. Clinicians should carefully listen to the heart of a child with FXS during annual physical exams to identify the sound of a MVP. Although it has a very low risk of serious complications, and usually does not require treatment, in rare cases, medications must be used to treat symptoms.

Stomach and bowel problems, especially diarrhea and acid reflux, both of which should be treated with dietary changes or medication.

Overweight and obesity, which are seen frequently. The height and weight of FXS children should be monitored to see if they have any problems with weight gain.

Sleep problems, such as difficulty falling asleep and frequent nighttime awakenings, are seen often in children with FX, as is obstructive sleep apnea (OSA). Sleep problems can contribute to difficulties with learning and behaviour, so, clinicians should take careful histories of sleep habits in FXS children, to allow treatment with behavioural therapies and medications.

Strabismus, an eye condition, which can be treated with eyeglasses, eye exercises, and surgery. Early detection is important, because strabismus can lead to permanent vision problems without treatment.

Take home message

In addition to ID and ASD, children with FXS often have physical health problems which should be monitored and treated by their physician, to enhance their everyday health and well-being.


 The original Research Report was written by R. Lozano and colleagues and published in Intractable Rare Disease Research. 2016.