A multidisciplinary approach to the management of individuals with fragile X syndrome.
Use a five-specialist checklist for every boy with FXS; odd brain waves flag hidden psychiatric issues.
01Research in Context
What this study did
Doctors tracked 24 boys with fragile X syndrome for one year. They ran a full medical checklist: heart, ears, eyes, seizures, mood, and speech. Each boy saw five specialists. The team wanted to know how often other health problems hide inside FXS.
What they found
Three out of four boys who had odd EEGs also had a psychiatric label. Heart, ear, and eye issues showed up too. The data say: screen everything, not just behavior.
How this fits with other research
Berry-Kravis et al. (2010) later asked a bigger group and found seizures in 1 of every 7 males with FXS. Their number is lower, but both papers agree seizures matter and often ride with autism.
Newman et al. (2015) zoomed in on ADHD and tantrums. They show FXS boys with autism are the ones most likely to hit or bite. Alanay et al. (2007) did not split by autism status, so the new data refine the risk picture.
do Amaral et al. (2024) added dentist checks and found worse cavities in FXS. Together the three studies build one roadmap: heart, brain, teeth—check them all.
Why it matters
You can’t treat what you don’t see. Run the same five-domain checklist at intake: EEG, cardiology, ENT, ophthalmology, and psych. If the EEG is odd, double-check for mood or autism signs. Share the list with parents so they can ask pediatricians for the right referrals. One page keeps the whole team on the same track.
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02At a glance
03Original abstract
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.
Journal of intellectual disability research : JIDR, 2007 · doi:10.1111/j.1365-2788.2006.00942.x