Treatment. Medical Follow-up. Speech and Language Therap. Occupational Therapy

A. Medical Follow-up. Medical follow-up of the fragile X syndrome is important for a variety of reasons. Medical problems such as hernias and joint dislocations are often associated with the connective tissue abnormalities in fragile X syndrome and treatment may be required. Medical intervention or medication can be helpful for behavioral problems, particularly hyperactivity. The physician can also be important in organizing and coordinating an overall treatment program that requires special education and individual therapies as described in following sections. There is no cure for the fragile X syndrome, but an overall treatment plan can help fragile X children reach their maximal potential.

Fragile X children often suffer from frequent and recurrent middle ear infections in early childhood. This problem requires vigorous medical intervention, including antibiotics and often the placement of poly ethylene tubes through the tympanic membrane to ventilate the middle ear space and to normalize hearing. If hearing is not normalized, the sequelae of language problems associated with a conductive hearing loss will further compound the language deficits that are associated with the fragile X syndrome.

The looseness of connective tissue, which is a frequent problem in fragile X, can cause significant flat feet that may require orthopedic intervention, a high narrow palate, and mitral valve prolapse, which requires antibiotic prophylaxis to prevent subacute bacterial endocarditis. This prophylaxis is required when children undergo dental procedures or surgical procedures that could contaminate the blood with bacteria.

Strabismus or a weak eye muscle may be seen in approximately 40% of fragile X children and strabismus requires ophthalmological treatment, such as surgery or patching to strengthen the weak eye muscle. All fragile X males and cognitively impaired females should be evaluated by an ophthalmologist before 4 years of age to detect visual problems at an early stage.

A seizure disorder can be seen in up to 20% of fragile X children and this requires anticonvulsant medication. EEG abnormalities, including a slowing of background activity and spike wave discharges similar to benign rolandic spikes, can be seen in approximately 50% of children with fragile X syndrome.

When seizures are clinically apparent, they are usually infrequent and easily controlled with anticonvulsants. The seizures may be partial motor seizures, grand mal, petit mal, or temporal lobe seizures. The clinical seizures usually disappear in adolescence, as do benign, rolandic seizures.

Medical intervention for behavior problems, specifically hyperactivity, is often warranted. Central nervous system stimulant medication, such as methylphenidate, dextroamphetamine, or pemoline, can help young children with fragile X syndrome to decrease hyperactivity and to improve their attention span. However, medication should be only one aspect of a total treatment program for fragile X children, which should also include special education help, speech and language therapy, and occupational therapy.

B. Speech and Language Therap. Often fragile X children present with very significant language delays that are first identified between 2 and 3 years of age. Speech and language therapy can be helpful for the articulation deficits that are commonly seen, but perhaps, most importantly, this therapy can enhance both expressive and receptive language abilities. The language therapist can work individually with children to improve auditory processing and attention and can also address early deficits in abstract reasoning skills and in the ability to generalize.

Pragmatic aspects of communication are also areas of deficit for fragile X children, perhaps because of the autistic features that are common. Group language therapy can enhance social communication abilities and can also improve pragmatic aspects of communication.

C. Occupational Therapy. Occupational therapy is helpful for improving both fine and gross motor coordination even in very young fragile X children. Many of the behavioral difficulties associated with the fragile X syndrome have been ascribed to sensorimotor integration deficits. Fragile X children have difficulty in processing a variety of sensory input, including tactile, auditory, and visual input. They frequently become overwhelmed with stimuli and this may precipitate behavior problems such as tantrums. Sensorimotor integration therapy is helpful in decreasing behavior difficulties and in helping a child feel comfortable and less anxious with a variety of stimuli. Hypotonia, motor incoordination, joint stability, motor planning, and calming techniques can all be addressed in occupational therapy.