AAP Issues Guidelines Covering Fragile X Patients Through Adulthood

April 29, 2011

NEW YORK (Reuters Health) Apr 28 - A just-published clinical report from the American Academy of Pediatrics (AAP) provides comprehensive guidance on the care of people with fragile X syndrome from birth through adulthood.

People with fragile X syndrome and FMR-1 related disorders "face challenges throughout their entire lives," Dr. Joseph H. Hersh and Dr. Robert A. Saul and the AAP's Committee on Genetics note in their report. "Therefore, coordinating medical, developmental, and behavioral services with available community resources can maximize the potential for affected people and minimize the stressors faced by other family members."

The AAP report , published online April 25 in Pediatrics, states that because children with fragile X syndrome may not have apparent physical features, any child who presents with developmental delay, borderline intellectual abilities, or mental retardation or has a diagnosis of autism without a specific etiology should undergo molecular testing for fragile X syndrome. Roughly 2% to 6% of children tested will have an FMR1 mutation.

In some instances, pediatricians may be called on to counsel an expectant couple whose fetus has been determined to have fragile X syndrome or when there's a family history of the disorder. If so, the AAP recommends the pediatrician:

* Review the diagnostic studies that led to the diagnosis.

* Explain the cause of fragile X syndrome in the fetus and the risk for recurrence.

* Review the varied clinical manifestations and long-term prognosis.

* Review currently available treatments and interventions.

* Explore, in a nondirective way, options available to the family. In cases of prenatal diagnosis, this may include discussion of pregnancy continuation or termination, rearing the child at home, foster care placement or adoption.

Fragile X syndrome is estimated to affect 1 in every 5,000 children worldwide, making it the most commonly inherited form of mental retardation. Fragile X is caused by a mutation in a single gene, known as fragile X mental retardation-1, or FMR1 gene, where part of the gene is made longer than normal by additional repeats of DNA sequence.

The AAP report , published online April 25 in Pediatrics, covers key issues regarding clinical and laboratory diagnosis, genetic counseling, related health problems, behavior management, and age-specific health supervision for people with fragile X syndrome. Each category includes information on examinations and "anticipatory guidance."

The AAP recommends examining the newborn with fragile X syndrome for any orthopedic abnormalities, especially congenital hip dysplasia and clubfoot; reviewing the molecular test results with the family; and monitoring for feeding difficulties.

Anticipatory guidance at this stage recommends the clinician review support groups and services available to the child and family; supply written material on fragile X syndrome; discuss how and what to tell family members; review the recurrence risk for subsequent pregnancies; review the family history regarding evaluation of other family members or refer for formal genetic counseling.

During infancy, growth and development may be normal, the AAP notes, although neurologic abnormalities and delayed development may be present. Among the recommendations at this age -- monitor for hypotonia, irritability (often secondary to sensory problems) and feeding problems.

During early childhood, the report recommends pediatricians perform an ophthalmologic evaluation or arrange for one to check for strabismus or refractive errors; check for orthopedic problems and monitor linear growth; check for inguinal hernia, especially at age 1 to 3 years; assess seizure history and obtain an electroencephalogram if needed; monitor for recurrent otitis media; monitor receptive and expressive communication and emotional and behavior status and consider psychopharmacologic interventions as needed.

During late childhood, the AAP makes note of macro-orchidism that usually begins to develop in boys with fragile X around age 9. They recommend measuring testicular volume and monitoring for hernia. Girls with the full mutation should be monitored for precocious puberty.

At this age, continued attention to developmental status is important, the AAP notes, "Making certain that cognitive, speech and language, and motor needs are being addressed." They also advise monitoring for, and addressing, hyperactivity and obsessive-compulsive behaviors.

One key aspect of care during adolescence to early adulthood, according to the AAP, is discussing psychosocial development, physical sexual development and fertility, as well as the need for birth control. If appropriate, discuss the option of vocational training and group home placement, and facilitate transition to adult medical care.

SOURCE: http://bit.ly/mEb1Er

Pediatrics 2011.

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