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Volume 13 No. 01
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Accepted Papers

Case Reports

Fragile X and Obstructive Sleep Apnea Syndrome: Case Presentation and Management Challenges

Courtney Curran, BS; Swarnalata Debbarma, MD, MPH; Karim Sedky, MD, MSc
Cooper Medical School of Rowan University, Camden, NJ


A high prevalence of obstructive sleep apnea (OSA) has been reported in individuals with fragile X syndrome (FXS). Untreated OSA can further complicate both medical and cognitive sequelae. Thus, identifying the diagnostic and treatment challenges that arise in these individuals is essential. We describe an adolescent with FXS who presented with significant OSA symptoms, and the challenges associated with management in this case.


Curran C, Debbarma S, Sedky K. Fragile X and obstructive sleep apnea syndrome: case presentation and management challenges. J Clin Sleep Med. 2017;13(1):137–138.


Fragile X syndrome (FXS) is a genetic condition affecting 1 in 4,000 to 8,000 individuals, characterized by a long face, large ears, and macroorchidism. Sleep disturbance in this group is reported in up to 32%,1 and is thought to exacerbate associated psychiatric conditions. Facial morphology, connective tissue dysplasia, and hypotonia increase the risk for obstructive sleep apnea (OSA) in those affected. In question-based investigation, loud snoring and OSA were reported in 38% and 34%, respectively, in this population. Correlation between OSA and subtypes of FXS had conflicting results, with one study suggesting individuals with fragile X tremor and ataxia syndrome were 3.4 times more likely than controls to have sleep apnea.2 We present a case with severe OSA and challenges related to his care.


A 17-y-old Caucasian male with FXS presented with snoring, gasping for air, and excessive sweating while sleeping. Starting 2 y prior, these symptoms had been worsening over the past year. In addition to FXS, the patient's asthma was treated by infrequent utilization of an albuterol inhaler, and seasonal allergies medicated by cetirizine 10 mg daily. For the patient's attention deficit hyperactivity disorder symptoms, a daily dose of 25 mg of dexmethylphenidate long-acting formulation was prescribed. In addition, sertraline 75 mg daily helped the patient's generalized anxiety. His surgical history included adenotonsillectomy, ear tubes placement, and tongue clipping.

On examination, the patient's nasal passages were patent. He had a large tongue and poor dentations, but a class 1 Mallampati score. Physical examination showed gait disturbance with weakness in his upper and lower extremities bilaterally. His body mass index was 25.1 kg/m2, and both his vital signs and comprehensive metabolic panel were normal. A recent pulmonary function test was not performed.

Because of the patient's suspected OSA and his anxiety about conducting an in-laboratory polysomnography (PSG), he completed a home sleep apnea test (HSAT). His apneahypopnea index (AHI) was 38, confirming his severe OSA, with oxygen desaturation reaching 80%. The patient refused to participate in a continuous positive airway pressure (CPAP) titration study, so automated CPAP was used. The patient was initially resistant to using the equipment, citing his discomfort with the full face mask. Despite this, he noted improvement in sleep parameters, and his mother reported a cessation of snoring. This encouraged compliance as the patient appreciated a difference, and his mother would initiate the CPAP after the patient fell asleep. The patient's compliance reached 88% of days more than 4 h per day, with normalization of AHI at a pressure of 10 cmH2O. His disheveled appearance dramatically changed, with improved hygiene and combed hair in all subsequent visits. He appeared more interactive during subsequent visits. However, administration of the Child Behavior Checklist (CBCL), a parent-completed broad scale to assess for psychiatric disorders, completed initially and 6 mo after device initiation, did not demonstrate any change in scores.


This case highlights the challenges of diagnosing and treating OSA in the FXS population, including refusal to conduct in-laboratory PSG. Although there is an increase in utilization of the HST in the pediatric population, more studies are needed for those with neurological and genetic disorders to assess accuracy. Several studies highlighted the bidirectional link between asthma and OSA.3 In this case, asthma symptoms were stable and was unlikely to be a precipitating cause. Additionally, CPAP compliance represents a major concern, especially in individuals with limited cognition. In a previous case study, a 47-y-old male with FXS refused CPAP treatment after the first night, and the physician had to resort to a dental device. In yet another case with associated Pierre Robin sequence, behavioral disturbances limited examination, with the need for tracheostomy and subsequent mandibular advancement surgery to treat OSA.4 In our case, parental guidance and his subjective improvement encouraged compliance.

Treating OSA has yielded improvements in psychiatric symptoms in the literature5; however, there were no changes in the CBCL completed by the patient's mother. Conversely, a significant change in the patient's hygiene was noted by his mother and the treating physician.

Although there are sporadic published cases on the prevalence of OSA in this population, more research is needed to objectively assess the comorbidity. Additionally, there is a lack of continuity data on CPAP compliance or any other treatment methods; thus, research should be conducted to determine persistent effects of OSA treatment in the FXS population.


Authors have no conflicts of interest and no financial support was provided. No investigational medications were used.



apnea-hypopnea index


Child Behavior Checklist


continuous positive airway pressure


fragile X syndrome


home sleep apnea test


obstructive sleep apnea





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