Prader-Willi syndrome (PWS, OMIM # 176270) and Down syndrome (DS, OMIM #190685) are neurodevelopmental genetic disorders with higher rates of autism spectrum disorder (ASD). The Aberrant Behavior Checklist (ABC) is a caregiver rating scale that assesses maladaptive behaviors.Overlapping symptoms exist between PWS, DS, and ASD, including maladaptive behaviors. We aimed to evaluate ABC profiles between PWS, DS, and ASD alone (without known genetic syndrome). In addition, we hypothesized PWS and DS with a comorbid ASD positive screen or diagnosis would have similar ABC profiles to ASD alone. ABC data from the following cohorts were analyzed: PWS (Seattle Children's Hospital, n = 28, mean age = 12.8 AE 4.9 years; University of Florida, n = 35, mean age = 9.3 AE 7.1 years), DS (Johns Hopkins, n = 406, mean age = 8.1 AE 2.4 years), and ASD (University of Florida, n = 102, mean age = 10.8 AE 3.5 years). ASD alone had significantly higher ABC scores. Subgroups of PWS and DS with a comorbid ASD positive screen or diagnosis had similarities in scores with the ASD only group, with subscale patterns unique to each syndrome. The ABC indicated worse maladaptive behaviors in children with ASD, including those with genetic syndromes. Although more studies are needed to evaluate the utility and the accuracy of the ABC as a tool to screen for ASD in special populations, it may be a useful adjunct in screening those children with PWS or DS who need more in depth ASD evaluation. K E Y W O R D S aberrant behavior checklist, autism, autism spectrum disorder, Down syndrome, maladaptive behavior, Prader-Willi syndrome
The Teen ADHD Workshop is a feasible and acceptable intervention to increase knowledge of ADHD and evidence-based treatments. Further research will evaluate effects on treatment participation.
Our innate capacity for voice is with us from the beginnings of life. The concept of voice is a complex issue rooted in the core of the self. Once we become aware of ourselves, we realize our capacity for self-expression. Self-expression is part of the cooperative network of communication between the self and others as we share emotions, thoughts, and ideas. Voice facilitates a connection between the world of one individual and the world of another. The purpose of this article was to explore and discover the processes, influences, attitudes and beliefs that affect a woman's ability to define her menopausal voice. A woman's voice expresses her knowledge, set of assumptions, concepts, values, and practices in the form of language. Voice becomes a manifestation of the essence of self, and when listened to, breaks the silence of non-existence. A menopausal woman's voice is the voice that expresses the entirety of her existence at that particular stage in life. Post-menopausal women were asked to define their menopausal voices. They were interviewed in depth and their information was collected through semistructured interviews. This approach used a qualitative methodology with a focus on meaning of their voices rather than measurement. The format was narrative research using life stories and thematic analysis. As a result, five themes: The Voice of Wisdom, The Voice of Aging, The Voice of relationship, The Voice of Spirit, and the Voice of Knowledge emerged after analyzing the women's stories. Each theme represents the complexities that influenced the participants' competence to ascribe meaning to their voices. This article identifies the meanings that menopausal women associated with the concept of voice and how it changed during menopause.
Growing evidence supports the efficacious nature of early intervention (EI) services to children with developmental delays and their families. Pediatricians can play a crucial role in identifying developmental delays and referring families to EI services provided by each state, under Part C of the Individuals with Disabilities Education Act (IDEA). The goals of this article are to educate pediatricians about the benefits of EI services and resources available within their state to help facilitate family involvement in EI. By being involved in the EI process, pediatricians can work as partners with parents and multidisciplinary teams to provide seamless coordinated care to children and their families.
Andrew is a 17-year-old male with trisomy 21, commonly known as Down syndrome, and accompanying severe intellectual disability who presents to your primary care office with his father for the first time to establish care and assistance with transition. Andrew has a history of a complete atrioventricular canal that was repaired as an infant and poorly controlled infantile spasms. Currently, he struggles with constipation, esophageal strictures, medullary nephrocalcinosis, urinary retention, sleep dysregulation, G-tube dependency, and hip dysplasia.Andrew walked at 11 to 12 years of age. Currently, he ambulates on his feet at home and in a wheelchair out in the community. He is nonverbal but can imprecisely sign for "more" and understands a few words. His father reports that his main concern is long-standing nonsuicidal self-injury (NSSI) and aggression. His self-injury consists of head banging against hard objects such as concrete floors and biting or scratching himself to the point of bleeding. Over the past 13 years, he has been prescribed over 10 different psychotropic medications, including various typical and atypical antipsychotics, selective serotonin reuptake inhibitors, benzodiazepines, mood stabilizers, and alpha agonists, all of which were discontinued because of the perception of undesirable side effects or lack of efficacy. His current medications include aripiprazole, olanzapine, levetiracetam, clorazepate, and trazodone. To rule out causes of irritability, you order a brain and spine magnetic resonance imaging, metabolic testing (for causes of NSSI such as Lesch-Nyhan), an autoimmune workup (for causes of pain or inflammation such as juvenile idiopathic arthritis), and hearing/vision testing, which are all normal. Previous testing by subspecialists (he is followed by gastroenterology, sleep medicine, orthopedics, nephrology, neurology, cardiology, and psychiatry) included normal renal ultrasound and no clear sources of gastrointestinal pain. However, key providers are spread among multiple institutions and do not regularly communicate.Andrew lives with his parents, who are highly educated and very dedicated to his health and wellness. His mother travels frequently for work, and his father is Andrew's full-time caregiver. Despite remaining ostensibly positive, his father reports significant caregiver burnout and fatigue.Over the next several months, Andrew continues to experience worsening NSSI necessitating medication changes despite active involvement in applied behavior analysis therapy. During this time, he presents to the emergency department multiple times for irritability and self-injury. On examination, he is aggressive, irritable, has bruises on his forehead and scratches on his skin, and has intermittent vertical gaze deviation that was noticeable to parents. The rest of his physical and neurological examination was unremarkable and revealed no asymmetry, clonus, hyperreflexia, or changes in muscle tone. While examining his extremities, joints, and abdomen, there was no obvious source of pa...
Objective: The primary care of children with Down syndrome (DS) requires close attention to specific medical vulnerabilities to maximize quality of life and prevent secondary disability. To help optimize adulthood outcomes for children with DS, the AAP Council on Genetics published health supervision guidelines to promote standardized care that adheres to the latest evidence based information. Our primary objective was to determine primary care pediatrician comfort, familiarity and frequency of referral to the 2011 AAP health supervision guidelines for children with DS. A secondary objective was to identify interventions that would improve compliance. Methods:A voluntary, self-administered e-mail survey was distributed to Washington State AAP members using Survey Monkey. The questionnaire targeted information regarding demographics, guideline knowledge, perceived barriers to guideline utilization and interventions to improve use. General pediatricians living in Washington State with self-reported past, current or expected future experience with the pediatric DS population were included.Results: Our response rate was 17% (N=161). Approximately 80% of pediatricians reported being comfortable using guidelines. About 20% of pediatricians were unfamiliar with the guidelines and do not refer to them. An additional 20% refer to the guidelines only sometimes. When asked a specific question regarding a guideline recommendation, 72% answered incorrectly. Over three-quarters of participants reported that electronic health record reminders would be the most beneficial. Conclusions:Opportunities to improve general pediatrician awareness and utilization of the DS guidelines exist. The most beneficial perceived intervention among pediatricians is guideline integration into the electronic health record. Studies measuring compliance and awareness of guidelines with a variety of interventions will be necessary in the future.
Stereotypical and prejudicial attitudes towards people considered overweight or obese are documented in professionals ranging from physicians, nurses, fitness and general nutrition professionals, and registered dietitian nutritionists (RDN) and may introduce barriers to equitable care. To identify the prevalence of anti-fat attitudes (AFA); fat phobia (FPS); and body appreciation scores (BA) in nutrition and dietetics’ students (ND) and non-nutrition and dietetics’ students (NND) through a cross-sectional design. During 2018, students (n=297) from two California State Universities completed a survey including three validated instruments. Additionally, height, weight, and waist circumference were collected using NHANES procedures. A series of ANCOVA’s and correlation coefficients were computed. Significant differences existed in BA between ND (M=3.61, SD=0.66) and NND students (M=3.81, SD=0.70); t(288) = 2.49, p=0.013. Scores indicated existing anti-fat attitudes and fat phobia. Significant positive correlations existed between FPS and anthropometrics. Weight related perceptions were identified. A need exists for a fundamental evidence-based training specifically focused on knowledge and awareness related to health metrics and social justice pedagogy to help RDN work unbiasedly with patients of all shapes.
Growing evidence supports the efficacious nature of early intervention (EI) services to children with developmental delays and their families. Pediatricians can play a crucial role in identifying developmental delays and referring families to EI services provided by each state, under Part C of the Individuals with Disabilities Education Act (IDEA). The goals of this article are to educate pediatricians about the benefits of EI services and resources available within their state to help facilitate family involvement in EI. By being involved in the EI process, pediatricians can work as partners with parents and multidisciplinary teams to provide seamless coordinated care to children and their families.
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