Fragile X Syndrome

Swati Kolpuru (Gadewar)
In Infancy
Infants with Fragile X syndrome are usually identified if there is a previous affected member in the family. The newly diagnosed infant should be closely examined for the following problems:

Connective tissue problems: There is an increased risk of following in an infant with Fragile X syndrome due to an underlying connective tissue disorder:
- Clubfoot
- Congenital hip dislocation
- Hernia
Routine intervention should be undertaken

Sudden infant death syndrome
There is an increased incidence of SIDS in these patients. Episodes of apnea, snoring or a seizure require a detailed investigation and subsequent careful monitoring.

Gastrointestinal problems
Although many babies with Fragile X syndrome do well in newborn period some of them may have problems with feeding. Recurrent vomiting with feeding is not uncommon. Gastroesophageal reflex may be present because of underlying connective tissue abnormality.
Treatment of GER:
- Positioning upright after meals
- Thickening of the feedsMedication
- Surgery if not controlled with medication

Otitis media
Frequent otitis media begins in the first year of life and is a problem for approximately 40-60% of boys. The cause for this predisposition is not known. The suggested hypothesis is:
- The facial structure, including a long face and a high-arched palate may affect the angle of the eustachian tube, which would also affect drainage
- The connective tissue dysplasia and hypotonia may lead to a collapsible eustachian tube, which would also affect drainage
- Possibility of transient hypogammaglobulinemia

Recurrent otitis media can lead to hearing loss and subsequent language and articulation deficits. It is therefore imperative that children with Fragile X syndrome be vigorously monitored and treated for otitis media with pressure-equalization tube placement or prophylactic antibiotics to avoid further damage to language development than what already occurs with this syndrome.

Developmental Delay:
Language development is almost always delayed. If language delays, articulation problems, or unusual characteristics such as cluttering, echolalia, or stuttering develop, the child should be referred to a speech therapist.

Formal developmental tests, such as the Bayley Scales of Infant development should be done as it allows the physician to monitor progress and focus on areas of delay.

Motor Problems:
Motor problems and hypotonia are common and continued therapy with an occupational therapist is recommended.

Behavioral problems:
Problems noted in the second and third years include temper tantrums, eating problems, and sleeping difficulties. Basic principles of child-rearing and discipline should be discussed with the parents. If problems arise, referral to therapists should be made who can teach appropriate behavioral modification techniques to the parents. Folic acid therapy can be considered.

Children with Fragile X syndrome have a risk of seizure disorder. Hence a history for possible seizures must be taken. If such a history is present, an electroencephalogram should be done and the child should be started on seizure medications.

Ophthalmologic problems:
An ophthalmologic examination should be done because strabismus or other difficulties including ptosis, nystagmus, and myopia can occur. Amblyopia is common if the ophthalmologic problems, particularly strabismus, are not treated early.

Management of behavioral, language and motor problems should be continued.

Attention deficit hyperactivity disorder:
The assessment and treatment of attention deficit hyperactivity is important in this age group. A detailed history should be taken and behavior should be monitored. Successful treatment includes behavioral management, special education, individual therapies, and pharmacotherapy

Connective tissue dysplasia:
Signs of connective tissue dysplasia that are evident at this age are:
- Scoliosis
- Flat feet
- Hernias
- Mitral valve prolapse

The child should be referred to an orthopedist because progression of the scoliosis may require treatment.

Mitral valve prolapse:
Careful physical examination should be done on every child with Fragile X syndrome. If mitral valve prolapse is detected, echocardiography should be done. The child should be given prophylaxis for subacute bacterial endocarditis for procedures that may be contaminated by endogenous bacteria.

Speech and language and occupational intervention should be continued.

Transition into adulthood:
The transition into adulthood is particularly difficult because of learning disability. The cognitive abilities may prevent independent living and supervision is necessary. Vocational training should be given. Special education approaches that use a person's strength, particularly with imitation, visual skills, and computers, can enhance the educational experience of children with this syndrome.

Behavioral problems:
Aggressive behavior is a common problem and it requires a thorough medical and environmental assessment. Counseling and medication may be helpful.

Masturbation and other forms of self-stimulatory behavior are common. Fertility is usually normal in men with Fragile X syndrome. Sex education and genetic counseling should be given to them. Mildly retarded individuals will require support in parenting.

Life span is normal. Integration into society depends upon the degree of intellectual impairment.

Fragile X Syndrome Fragile X Syndrome 12/31/2013
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