Having a child with a genetic disease has many social and psychological issues. Feelings of blame, guilt, embarrassment, and stigmatization are commonly experienced. The role of the genetic counselor is to help families adjust and cope with the stresses of having a child with Fragile X Syndrome.

This can be accomplished by

• Educating them by presenting medical information about diagnosis and prognosis
  
  
• Reviewing the inheritance and recurrence risks since Fragile X syndrome is inherited.
  
  
• Discussing family planning options
  
  
• Help family make informed decisions regarding treatment, management, and testing by educating them and providing emotional support.
  
  
• DNA testing of the mother to find her degree of involvement with the Fragile X syndrome, particularly if she has learning or behavioral problems.
  
  
• Prenatal diagnosis in future pregnancies

• 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.