Experience, knowledge, and opinions about childhood genetic testing in Batten disease.

BACKGROUND AND OBJECTIVES: Policies for genetic testing in children (GTIC) focus on medical or psychosocial benefit to the child, discouraging or prohibiting carrier testing, and advising caution regarding pre-symptomatic diagnosis if no treatment exists. This study sought to understand parents' perspectives on these issues and determine their experiences and knowledge related to genetic testing for Batten disease - a set of inherited neurodegenerative diseases of childhood onset for which no disease modifying therapies yet exist. METHODS: Parents of children with Batten disease completed a survey of their knowledge of genetics, experience with genetic testing, and opinions regarding GTIC. RESULTS: 54% had sought genetic testing for non-affected family members, including predictive diagnosis of healthy, at-risk children. Participation in any genetic counseling was associated with greater knowledge on questions about genetics. The majority of parents felt it was better to know ahead of time that a child would develop Batten disease, believed that this knowledge would not alter how they related to their child, and that parents should have the final say in deciding whether to obtain GTIC. CONCLUSIONS: Parents of children with an inherited disease are knowledgeable about genetics and wish to establish predictive or carrier status of at-risk children.

Attention-deficit/hyperactivity disorder in children and adolescents: closing diagnostic, communication, and treatment gaps.

Nurses and nurse practitioners often play a key role in the management of children with attention-deficit/hyperactivity disorder (ADHD), a disorder that often persists into adolescence and adulthood. The diagnosis of ADHD requires careful history taking, use of standardized rating scales, and close attention to the patient's behavior and informants' reports. Stimulants appear to be most effective for patients with this diagnosis, but pharmacotherapy for ADHD should be combined with educational and behavioral interventions and careful follow-up to optimize treatment outcomes. Nurses and nurse practitioners must advocate to assist patients and families achieve goals at home and at school.