Background: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Since the identification of the responsible gene (FMR1) and its protein (FMRP), there has been enormous progress in both clinical and pathogenetic research on the neurobehavioural aspects of the condition. However, studies regarding other medical problems anticipated in individuals with FXS are limited. A multidisciplinary study evaluating various causes of morbidity in the same group has not been published yet.
Methods: Twenty-four boys with FXS full mutation were recruited out of a larger group of 103 diagnosed in one centre over the past 10 years. Ear nose and throat, eye and cardiac examinations were performed in addition to routine cognitive, behavioural, neurological and speech and language assessments.
Results: The average IQ score was 49.8 +/- 20 (range 25-90). There were four patients (18%) with IQ above 70. Using DSM-IV, attention deficit hyperactivity disorder was diagnosed in five boys out of 22 examined (23%), while 32% were diagnosed with pervasive developmental disorder. The seizure frequency was 17%. A psychiatric disorder was diagnosed in six out of eight boys with electroencephalogram abnormalities (75%). Minimal conductive hearing loss was found in five (5/22) patients. There was significant delay in both expressive and receptive language skills. Ocular findings were refractive errors (13%) and strabismus (4.4%). Mitral valve prolapsus (MVP) was observed in 3/22 (13.7%) patients and aortic annulus dilatation was present in 2/22 (9%) patients.
Conclusions: Frequency of psychiatric diagnoses made with DSM-IV were in parallel to those reported in the literature. Comorbidity of seizures and psychiatric disorders was noteworthy. The percentage of 'high-functioning' full mutation males supports the previous observations. Ear nose and throat and eye examination revealed remarkably lower prevalence of abnormal findings than reported. MVP was slightly less frequent compared with the single study in the literature. Age at the time of examination had an effect on the outcome of cardiac evaluation. These findings will guide us in future management of the group of patients followed in our institution. The protocol applied provides an applicable outline for multidisciplinary institutional settings dealing with individuals with FXS.