Medical Care
Workup and diagnosis of fragile X syndrome can be done on an outpatient basis. Routine care involves treating the medical problems that these patients commonly experience, including gastroesophageal reflux, sinusitis, and otitis media. During infant and early childhood healthcare maintenance visits, focus examination on possible hip dislocations, hernias, and hypotonia.
Consultations
Consultations may include the following:
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Genetic specialist: Genetic counseling is important to inform patients and families and to assist with family planning and reproducive decisions.
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Speech and language therapist
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Occupational and physical therapist
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Behavioral intervention/modification team: Specific areas of focus include social eye contact and stress reduction training.
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Special education professional: Consultation with a special education professional is appropriate to assess the level of cognitive functioning, attention deficit hyperactivity disorder (ADHD) symptoms, and aggressiveness and to initiate sensory integration therapy for behavior problems.
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Psychology or behavioral specialist: This consultation is important to assist families with methods for decreasing negative behavior. Additionally, some patients with fragile X syndrome benefit from social skills–oriented therapy and individual counseling.
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Neurologist: Consult a neurologist if seizures persist.
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Cardiologist
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Otolaryngologist: Patients with chronic sinusitis and chronic otitis media require an evaluation.
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Ophthalmologist: An ophthalmologic referral is important for patients with strabismus.
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Gastroenterologist
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Orthopedic surgeon: An orthopedic surgeon frequently assesses patients for abnormal gait caused by pes planus, which is managed with orthotic inserts or orthopedic shoes. Although scoliosis is rarely severe enough to warrant orthopedic surgical intervention, the degree of scoliosis should be assessed with spinal imaging. Referral to an orthopedic surgeon is required if the curvature is significant.
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Nutritionist: For patients with the Prader-Willi syndrome phenotype, consider referral to a nutritionist. Other consultations include experts in Prader-Willi syndrome to guide an exercise program, to assist with environmental solutions (eg, locking cabinets), and to educate about specific Prader-Willi interventions (Food Security and Red, Yellow, Green Dietary Programs).
Diet
A special diet is indicated in infants with significant gastroesophageal reflux. In these patients, thickened feeds may decrease the incidence of reflux; otherwise, no special diet is indicated.
