Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities.

Methyl-CpG binding protein 2 gene (MECP2) testing is indicated for patients with numerous clinical presentations, including Rett syndrome (classic and atypical), unexplained neonatal encephalopathy, Angelman syndrome, nonspecific mental retardation, autism (females), and an X-linked family history of developmental delay. Because of this complexity, a gender-specific approach for comprehensive MECP2 gene testing is described. Briefly, sequencing of exons 1 to 4 of MECP2 is recommended for patients with a Rett syndrome phenotype, unexplained neonatal encephalopathy, an Angelman syndrome phenotype (with negative 15q11-13 analysis), nonspecific mental retardation, or autism (females). Additional testing for large-scale MECP2 deletions is recommended for patients with Rett syndrome or Angelman syndrome phenotypes (with negative 15q11-13 analysis) following negative sequencing. Alternatively, testing for large-scale MECP2 duplications is recommended for males presenting with mental retardation, an X-linked family history of developmental delay, and a significant proportion of previously described clinical features (particularly a history of recurrent respiratory infections).

Antidepressant prescribing practices for the treatment of children and adolescents.

OBJECTIVE: This study evaluates pediatric antidepressant prescribing practices of Nebraska clinicians. METHODS: Surveys were sent in July, 2005, to 1,521 prescribing clinicians throughout Nebraska to assess pediatric antidepressant use along with any practice changes following the U.S. Food and Drug Administration (FDA) "black box" warning issued in October, 2004. RESULTS: Over half (n = 866) of the clinicians responded to the survey, of which 96.8% reported awareness of the FDA "black box" warning. Of the respondents, 76.9% (n = 666) were prescribing antidepressants to children and/or adolescents. Clinicians reported decreased prescribing frequency for both children (15.5%) and adolescents (36.6%), with 36% having increased referrals to specialists. While 31.9% reported seeing patients more frequently upon initiation of antidepressants, only 7.5% reported weekly visits for the first month of treatment, as recommended by the FDA. Over one fifth (21.9%) reported a caregiver or patient had refused antidepressant medication treatment due to the FDA's warning. CONCLUSION: Clinicians in Nebraska report changes in clinical practice due to the issuance of the FDA "black box" warning, with a decrease in prescribing antidepressants to pediatric patients and an increase in referrals to specialists. Although awareness of the FDA's warning was evident among clinicians and patients, adherence to recommended guidelines was low.

Complementary and alternative medicine (CAM) in genetics.

Complementary and alternative medicine (CAM) is increasingly popular among families. Approximately 50% of children are on herbal preparations, 30% of adolescents take herbal medications, and 70% of adults are involved in some aspect of complementary medicine. The true incidence of CAM use by families who have a family member with special needs or a genetic condition is unknown. Anecdotal evidence suggests that usage may be higher in this group than in the general population. Geneticists and genetic counselors need to be aware of CAM practices with their families and to provide anticipatory guidance.

Dental management of an adolescent with trisomy 13 syndrome: a case report.

This first fully documented dental case report reviews the medical aspects of trisomy 13, summarizes the dental literature on this topic, and describes the dental findings and treatment of a 16-year-old female long-term survivor.

Use of herbal agents by breastfeeding women may affect infants.

Breastfeeding women increasingly are taking herbal medications. Physicians dealing with women wishing to breastfeed should ask specifically about use of herbal and non-traditional medications. Important questions include why the herbals are being used, what benefits the patient is attempting to achieve, and whether it is truly critical to take the herbal agent during the time of breastfeeding. There are often other medications with known safety profiles during breastfeeding that can be used instead. If the herbal medication is not critical to a woman's health, it can often be deferred during the time of breastfeeding, the safest way to avoid any potential complications. To be able to discuss these issues with mothers who are planning to breastfeed, the clinician must become aware of which herbal medications are in use and understand their potential side effects. The more knowledge the health professional has regarding complementary medicine, the more trust the patient will have in discussing these issues and working with the physician to minimize any dangers to the breastfeeding infant.