Infancy

Infants with FXS are usually identified after an older relative, such as a brother or cousin, is identified with FXS. Genetic counseling for extended family members should begin at the time of diagnosis and may also involve prenatal diagnosis for future pregnancies (chap. 7).

Infancy: Connective Tissue Abnormalities

The newly diagnosed infant should be examined with a close look for possible connective tissue abnormalities (chap. 1). Infants with FXS are at increased risk for cleft palate, clubfoot, congenital hip dislocation, and hernias, perhaps all related to loose connective tissue. Fryns et al. (1988) also reported an increased incidence of sudden infant death syndrome (SIDS), so episodes of apnea, obstructed breathing, or possible seizures require a detailed workup and subsequent careful monitoring. Tirosh and Borochowitz (1992) reported obstructive sleep apnea in four boys with FXS, but this was recognized later in childhood. A subsequent sleep study of seven children with FXS (six boys and one girl, mean age 12.9 years) did not demonstrate evidence of obstructive sleep apnea (Musumeci et al. 1996). The authors suggest that children with FXS usually do not have problems with sleep apnea unless risk factors such as enlarged adenoids or tonsils or hypotonic oropharyngeal muscles are present. Sometimes severe snoring can be associated with obstructive sleep apnea, and a tonsillectomy and adenoidectomy may improve these symptoms. If obstructive sleep apnea persists after surgery, treatment with continuous positive airway pressure (CPAP) has been shown to be efficacious in children with neurodevelopmental disorders (Tirosh et al. 1995). CPAP delivered by nasal prongs at night improved sleep quality, daily arousal, frequency of seizures, and episodes of pneumonia in four boys with neurodevelopmental disorders, including one patient with FXS.

Infancy: Continued

• Vomiting and Gastroesophageal Reflux
• Occupational and Physical Therapy
• Otitis Media/Sinusitis

This article is not intended to give medical advice for individual cases.  Any change in medical treatment should be done in consultation with appropriate medical personnel. This article is written for medical professionals.  Some of the terms will be unfamiliar to those who are not trained in medical fields. *This article is from the chapter on treatment in the 3rd edition of Fragile X Syndrome: Diagnosis, Treatment, and Research edited by Randi Jenssen Hagerman, M.D. and Paul Hagerman, M.D., Ph.D., to be published May 2002.  It is included with permission from The Johns Hopkins University Press. References to other chapters refer to chapters in the book which are not included as part of this website. The complete 3rd edition of Fragile X Syndrome: Diagnosis, Treatment, and Research can be ordered from the National Fragile X Foundation by calling 1-800-688-8765 or from The Johns Hopkins University Press at 1-800-537-5487.

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