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Biomedical subjects

Nancy J Roizen

Publications and source records attributed to Nancy J Roizen.

10 recordsLinked to original sources

ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome.

OBJECTIVE: To examine prevalence rates of psychopathology in children with velocardiofacial syndrome (VCFS). METHOD: One hundred fifty-four children ages 6 to 15 participated in our between-group design with three samples, 84 children with VCFS (37 girls, 47 boys), 32 sibling controls (18 girls, 14 boys), and 38 community controls (12 girls, 26 boys). The Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version and several other parent report measures were used to assess for psychopathology. RESULTS: Compared to both control samples, children with VCFS had higher prevalence rates of major depressive disorder, attention-deficit/hyperactivity disorder, simple phobias, and enuresis. Additional findings from our analyses include (1) no gender differences in VCFS psychopathology prevalence rates, (2) children with VCFS who have comorbid psychopathology were rated by their parents as having less well-developed executive functions, and (3) across all three samples, the higher the IQ was, the higher the level of global functioning. CONCLUSIONS: These findings are consistent with previous research and suggest that major depressive disorder, attention-deficit/hyperactivity disorder, and simple phobias are salient features of the VCFS psychiatric phenotype.

Adolescent↗

Complementary and alternative therapies for Down syndrome.

In their role as committed advocates, parents of children with Down syndrome have always sought alternative therapies, mainly to enhance cognitive function but also to improve their appearance. Nutritional supplements have been the most frequent type of complementary and alternative therapy used. Cell therapy, plastic surgery, hormonal therapy, and a host of other therapies such as massage therapy have been used. There is a lack of well-designed scientific studies on the use of alternative therapies in individuals with Down syndrome. Antioxidants hold theoretical promise for treatment of the cognitive, immune, malignancy, and premature aging problems associated with Down syndrome. Medications for treatment of Alzheimer's disease may also result in benefit for the population of individuals with Down syndrome.

Amyloid beta-Peptides↗

Down's syndrome.

The sequencing of chromosome 21 and the use of models of Down's syndrome in mice have allowed us to relate genes and sets of genes to the neuropathogenesis of this syndrome, and to better understand its phenotype. Research in prenatal screening and diagnosis aims to find methods to identify fetuses with Down's syndrome, and reduce or eliminate the need for amniocentesis. Other areas of active research and clinical interest include the association of Down's syndrome with coeliac disease and Alzheimer's disease, and improved median age of death. Medical management of the syndrome requires an organised approach of assessment, monitoring, prevention, and vigilance. Improvements in quality of life of individuals with Down's syndrome have resulted from improvements in medical care, identification and treatment of psychiatric disorders (such as depression, disruptive behaviour disorders, and autism), and early educational interventions with support in typical educational settings. Approaches and outcomes differ throughout the world.

Adolescent↗

Nongenetic causes of hearing loss.

Nongenetic as well as genetic etiologies must be explored in the child with identified hearing loss. Graduates of the neonatal intensive care unit are at increased risk for developing hearing loss due to hypoxia, hyperbilirubinemia, very low birth weight, and ototoxic medications. Although meningitis has decreased in frequency, it is still a risk factor for hearing loss. Cytomegalovirus remains the most common congenital infection and a relatively common etiology of hearing loss, which can be progressive. Preventable causes of hearing loss include those caused by head trauma, noise, and ototoxic medications. Identification of the etiology of hearing loss can facilitate the development of a treatment and management plan.

Congenital Abnormalities↗

Developmental and behavioral pediatric practice patterns and implications for the workforce: results of the Future of Pediatric Education II Survey of Sections Project.

A survey of developmental-behavioral pediatricians was conducted to obtain data and insights on their current practice. As part of the Future of Pediatric Education (FOPE) II Survey of Sections Project, questionnaires were sent to individuals who were most likely to represent those pediatricians engaged in the subspecialty of developmental-behavioral pediatrics. Four groups of physicians were compared within the survey: developmental-behavioral fellowship group (n = 272), developmental disabilities fellowship group (n = 139), general academic pediatrics or other fellowship group (n = 57), and a nonfellowship group (n = 224). A majority of respondents indicated a need for an increased number of subspecialists in developmental-behavioral pediatrics in their community during the next 3 to 5 years. There were significant differences in the survey results of a variety of practice issues between those who had and had not received formal fellowship training. The survey data illustrate a developmental-behavioral pediatrician workforce that is becoming increasingly fellowship trained, receiving more referrals, and encountering constraints to seeing more patients in an era of declining reimbursement for services. To overcome these obstacles, stakeholders in child health, including health care payers, will need to be educated about the unique skills and clinical expertise of physicians in developmental-behavioral pediatrics and neurodevelopmental disabilities.

Child↗

Medical care and monitoring for the adolescent with Down syndrome.

As the child with Down syndrome enters the second decade of life, some of the original medical issues, such as cardiac, vision, and hearing problems, continue to concern parents. Dermatologic and podiatric problems may become particularly bothersome. Although the child may be doing well, monitoring for thyroid and celiac disease continues to be needed. Continued vigilance is needed for arthritis, diabetes, leukemia, neck subluxation, and seizures. Prevention and treatment of dental and obesity problems are important. Psychiatric and behavioral problems may compromise the adolescent's opportunities. Sexuality and the associated issues of abuse, pregnancy, and menstrual hygiene must be addressed.

Adolescent↗

Improving guideline adherence for the diagnosis of ADHD in an ambulatory pediatric setting.

BACKGROUND: The American Academy of Pediatrics (AAP) has published clinical practice guidelines for the diagnosis of Attention Deficit Hyperactivity Disorder (ADHD). However, implementation of guidelines has been notoriously difficult to achieve in the wider context of changing individual physicians' clinical practice. OBJECTIVE: Implement a formalized diagnostic protocol for ADHD and study whether this protocol improved adherence of pediatric residents and faculty to published guidelines for the diagnosis of ADHD. METHODS: Quasi-experimental retrospective record review of 63 pediatric patients evaluated for ADHD by pediatric residents and faculty in an outpatient pediatric clinic before (n = 25) and after (n = 38) implementation of a formal diagnostic process for ADHD. The key elements of the new diagnostic process include completion of a semistructured interview and mandatory rating scales for home and school. The published AAP guidelines include 1) documentation of Diagnostic and Statistical Manual for Mental Disorders (DSM) IV criteria; 2) evidence of core symptoms obtained directly from home and 3) from school; and 4) assessment for coexisting conditions. Adherence was assessed to each criterion individually (yes/no) and was summarized in a single score. RESULTS: Only 4% of clinicians and nurse practitioners diagnosing children in the before group adhered to all 4 AAP guidelines, compared to 82% in the after group (P < .001). Significant improvement was observed across each of the 4 criteria in the AAP guidelines. Moreover, the improvement in adherence to all 4 guidelines was noted for residents and faculty. CONCLUSION: A significant improvement in adherence to AAP guidelines was obtained for all providers through implementation of a structured diagnostic approach to ADHD.

Ambulatory Care↗