ABSTRACT
Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. We have identified 34 probands with exonic NRXN1 deletions following referral for clinical microarray-based comparative genomic hybridization. To more firmly establish the full phenotypic spectrum associated with exonic NRXN1 deletions, we report the clinical features of 27 individuals with NRXN1 deletions, who represent 23 of these 34 families. The frequency of exonic NRXN1 deletions among our postnatally diagnosed patients (0.11%) is significantly higher than the frequency among reported controls (0.02%; P = 6.08 × 10(-7) ), supporting a role for these deletions in the development of abnormal phenotypes. Generally, most individuals with NRXN1 exonic deletions have developmental delay (particularly speech), abnormal behaviors, and mild dysmorphic features. In our cohort, autism spectrum disorders were diagnosed in 43% (10/23), and 16% (4/25) had epilepsy. The presence of NRXN1 deletions in normal parents and siblings suggests reduced penetrance and/or variable expressivity, which may be influenced by genetic, environmental, and/or stochastic factors. The pathogenicity of these deletions may also be affected by the location of the deletion within the gene. Counseling should appropriately represent this spectrum of possibilities when discussing recurrence risks or expectations for a child found to have a deletion in NRXN1.
Subject(s)
Cell Adhesion Molecules, Neuronal/genetics , Gene Deletion , Nerve Tissue Proteins/genetics , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Adolescent , Adult , Autistic Disorder/genetics , Calcium-Binding Proteins , Child , Child, Preschool , Comparative Genomic Hybridization , Developmental Disabilities/genetics , Exons , Facies , Female , Gene-Environment Interaction , Genome-Wide Association Study , Humans , Infant , Intellectual Disability/genetics , Male , Middle Aged , Neural Cell Adhesion Molecules , Penetrance , Phenotype , Schizophrenia/genetics , Young AdultABSTRACT
OBJECTIVES: The objective of this study was to evaluate the prevalence, types, perceived effects, and factors that influence the use of complementary and alternative medicine (CAM) by military children. DESIGN: A parent survey was administered in two military general pediatric clinics from June to September 2009. Parents completed surveys about their children including the following items: demographic information, a list of specific CAM therapies, family CAM use, and child health status. RESULTS: Caregivers completed 278 surveys. The overall use of CAM was 23%. The most common type of CAM used was herbal therapy (34%). The CAM therapies most commonly reported to be very helpful were special diets (67%), melatonin (57%), vitamins and minerals used at doses higher than the recommended daily allowance (50%), and massage therapy (50%). The majority of users reported no side-effects (96%). Among CAM users, 53% had discussed their CAM use with a physician and 47% had seen a CAM practitioner. Factors associated with CAM use in multiple regression analysis included chronic conditions (p = 0.001), parent/sibling use of CAM (p < 0.001), and parent age over 30 years (p = 0.02). Primary sources of CAM information were friends and family (68%) and doctors (44%). Common reasons for using CAM were to promote general health (70%), to relieve symptoms (56%), and to improve quality of life (48%). Eighty percent (80%) of all respondents indicated they would use CAM if recommended by a physician. CONCLUSIONS: In this military population with access to universal health care, CAM use is higher than the U.S. national average and nearly double that of the 2007 National Health Interview Survey study. Patients with chronic conditions, family members using CAM, and parental age over 30 years are more likely to use CAM. CAM is perceived as helpful with minimal to no side-effects. Pediatricians should inquire about CAM use and be prepared to provide guidance on this topic.
Subject(s)
Caregivers , Child Care , Complementary Therapies/statistics & numerical data , Military Personnel/statistics & numerical data , Patient Acceptance of Health Care , Physician-Patient Relations , Adult , Age Factors , Ambulatory Care Facilities , Child , Chronic Disease , Consumer Health Information , Family , Health Care Surveys , Hospitals, Military , Humans , Massage , Melatonin/therapeutic use , Nutrition Therapy , Pediatrics , PhytotherapyABSTRACT
Patient satisfaction is an indicator of quality of care received. Home-visit programs are associated with increased satisfaction and equivalent clinical outcomes but increased cost, compared with clinic visits. We hypothesized that home visits for routine well-child care would also be associated with increased satisfaction and equivalent outcomes. One thousand infants born at Tripler Army Medical Center were identified, and 630 were enrolled. Army and Air Force dependents received 2-week clinic visits. Navy and Marine Corps dependents were offered home visits. At 4 to 6 weeks, families completed a questionnaire. Maternal satisfaction and quality of anticipatory guidance were higher in the home-visit group. Clinical outcomes were equal. Home visits for routine well-child care are valid and are associated with greater maternal satisfaction, better anticipatory guidance, and equivalent clinical outcomes.
