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  1. Article ; Online: Parental Responsivity and Child Communication During Mother-Child and Father-Child Interactions in Fragile X Syndrome.

    Potter, Sarah Nelson / Harvey, Danielle / Sterling, Audra / Abbeduto, Leonard

    Journal of speech, language, and hearing research : JSLHR

    2024  Volume 67, Issue 3, Page(s) 939–959

    Abstract: Purpose: Past research shows that parentally responsive behavior toward the child positively influences language development in both neurotypical children and children with intellectual and developmental disabilities, including those with fragile X ... ...

    Abstract Purpose: Past research shows that parentally responsive behavior toward the child positively influences language development in both neurotypical children and children with intellectual and developmental disabilities, including those with fragile X syndrome (FXS); however, most studies have focused exclusively on the mother-child relationship. The current study examined relationships between parent behavior (i.e., responsivity and behavior management) and child language performance in both mother-child and father-child interactions, as well as relationships between child characteristics and both parent behavior and child language.
    Method: Participants were 23 families of young boys with FXS between 3 and 7 years of age. Mothers and fathers independently completed questionnaires assessing child characteristics and separately engaged in 12-min play-based interactions with their child via telehealth. One parent also completed a comprehensive interview assessing child adaptive behavior. Video recordings of the parent-child interactions were transcribed and coded for parent and child behavior, and measures of parent and child language were obtained from the transcripts.
    Results: Mothers and fathers used similar rates of responsive behaviors during parent-child interactions, and parental responsivity was positively associated with some aspects of child language performance (i.e., talkativeness and lexical diversity). Parental behavior, however, was not associated with syntactic complexity. Older children and children with higher levels of adaptive behavior had parents who used higher rates of responsive behaviors. Fathers used higher rates of behavior management strategies compared to mothers, and this type of parent behavior was not associated with child language.
    Conclusion: Overall, this study provides evidence that interventions focused on increasing parental responsiveness would be beneficial for families of children with FXS and that these interventions should be delivered early given the association between responsivity and child age.
    Supplemental material: https://doi.org/10.23641/asha.25229939.
    MeSH term(s) Male ; Female ; Child ; Humans ; Adolescent ; Fragile X Syndrome ; Parents ; Parent-Child Relations ; Mothers ; Mother-Child Relations ; Communication ; Fathers
    Language English
    Publishing date 2024-02-26
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1364086-0
    ISSN 1558-9102 ; 1092-4388
    ISSN (online) 1558-9102
    ISSN 1092-4388
    DOI 10.1044/2023_JSLHR-23-00517
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Confusional State in HaNDL Syndrome

    Sarah Nelson

    Case Reports in Neurological Medicine, Vol

    Case Report and Literature Review

    2013  Volume 2013

    Keywords Neurology. Diseases of the nervous system ; RC346-429 ; Neurosciences. Biological psychiatry. Neuropsychiatry ; RC321-571 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Neurology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
    Language English
    Publishing date 2013-01-01T00:00:00Z
    Publisher Hindawi Publishing Corporation
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: How community participation in water and sanitation interventions impacts human health, WASH infrastructure and service longevity in low-income and middle-income countries

    Joel Negin / Aaron Jenkins / Sarah Nelson / Dorothy Drabarek

    BMJ Open, Vol 11, Iss

    a realist review

    2021  Volume 12

    Keywords Medicine ; R
    Language English
    Publishing date 2021-12-01T00:00:00Z
    Publisher BMJ Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article: Mental Health Challenges, Parenting Stress, and Features of the Couple Relationship in Parents of Children With Fragile X Syndrome.

    Potter, Sarah Nelson / Harvey, Danielle J / Sterling, Audra / Abbeduto, Leonard

    Frontiers in psychiatry

    2022  Volume 13, Page(s) 857633

    Abstract: Background: Individuals with fragile X syndrome (FXS) have significant delays in cognition and language, as well as anxiety, symptoms of autism spectrum disorder, and challenging behaviors such as hyperactivity and aggression. Biological mothers of ... ...

    Abstract Background: Individuals with fragile X syndrome (FXS) have significant delays in cognition and language, as well as anxiety, symptoms of autism spectrum disorder, and challenging behaviors such as hyperactivity and aggression. Biological mothers of children with FXS, who are themselves
    Method: The current study examined features of, and relationships between, parental well-being, couple well-being, and child functioning in 23 families of young boys with FXS. Mothers and fathers independently completed multiple questionnaires about their individual well-being, couple functioning, and child behavior. One parent per family also completed an interview about the child's adaptive skills.
    Results: Results suggest that both mothers and fathers in these families experience clinically significant levels of mental health challenges and elevated rates of parenting stress relative to the general population. Findings also indicate that the couples' relationship may be a source of strength that potentially buffers against some of the daily stressors faced by these families. Additionally, parents who reported less parenting stress had higher couples satisfaction and dyadic coping. Finally, parents of children with less severe challenging behaviors exhibited fewer mental health challenges, less parenting stress, and higher levels of both couples satisfaction and dyadic coping. Parents of children with higher levels of adaptive behavior also reported less parenting stress and higher couples satisfaction.
    Conclusion: Overall, this study provides evidence that families of children with FXS need access to services that not only target improvements in the child's functioning, but also ameliorate parental stress. Family-based services that include both mothers and fathers would lead to better outcomes for all family members.
    Language English
    Publishing date 2022-04-01
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2564218-2
    ISSN 1664-0640
    ISSN 1664-0640
    DOI 10.3389/fpsyt.2022.857633
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Specificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions.

    Andrews, Sara M / Panjwani, Anita A / Potter, Sarah Nelson / Hamrick, Lisa R / Wheeler, Anne C / Kelleher, Bridgette L

    American journal on intellectual and developmental disabilities

    2024  Volume 129, Issue 3, Page(s) 175–190

    Abstract: Hyperphagia is highly penetrant in Prader-Willi syndrome (PWS) and has increasingly been reported in other neurogenetic conditions (NGC). The Hyperphagia Questionnaire (HQ) was completed by caregivers of 4-8-year-olds with PWS (n = 17), Angelman syndrome ...

    Abstract Hyperphagia is highly penetrant in Prader-Willi syndrome (PWS) and has increasingly been reported in other neurogenetic conditions (NGC). The Hyperphagia Questionnaire (HQ) was completed by caregivers of 4-8-year-olds with PWS (n = 17), Angelman syndrome (AS; n = 22), Williams syndrome (WS; n = 25), or low-risk controls (LRC; n = 35). All NGC groups were significantly elevated in HQ Total and Behavior scores compared to LRC. Only AS and WS were significantly elevated in the Drive domain, and only PWS in the Severity domain. After controlling for externalizing behavior, HQ Total scores were higher for PWS relative to other groups. Hyperphagic symptoms may not differentiate PWS from other NGCs in early childhood. However, hyperphagic phenotypes may be most severe in PWS. Further investigation of these profiles may inform etiology and syndrome-specific treatments.
    MeSH term(s) Humans ; Hyperphagia ; Child, Preschool ; Male ; Female ; Prader-Willi Syndrome/diagnosis ; Child ; Angelman Syndrome/physiopathology ; Angelman Syndrome/diagnosis
    Language English
    Publishing date 2024-03-26
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2477909-X
    ISSN 1944-7558 ; 1944-7515
    ISSN (online) 1944-7558
    ISSN 1944-7515
    DOI 10.1352/1944-7558-129.3.175
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Predicting climate-sensitive water-related disease trends based on health, seasonality and weather data in Fiji

    Sarah Nelson / Aaron Jenkins / Stacy D. Jupiter / Pierre Horwitz / Sangeeta Mangubhai / Seye Abimbola / Anaseini Ratu / Timoci Naivalulevu / Joel Negin

    The Journal of Climate Change and Health, Vol 6, Iss , Pp 100112- (2022)

    2022  

    Abstract: Leptospirosis, typhoid and dengue are three water-related diseases influenced by environmental factors. We examined whether seasonality and rainfall predict reported syndromes associated with leptospirosis, typhoid and dengue in Fiji. Poisson generalised ...

    Abstract Leptospirosis, typhoid and dengue are three water-related diseases influenced by environmental factors. We examined whether seasonality and rainfall predict reported syndromes associated with leptospirosis, typhoid and dengue in Fiji. Poisson generalised linear models were fitted with s6 early warning, alert and response system (EWARS) syndromic conditions from March 2016 until December 2020, incorporating seasonality, temperature and rainfall. Watery diarrhoea, prolonged fever and suspected dengue displayed seasonal trends with peaks corresponding with the rainy season, while bloody diarrhoea, acute fever with rash and acute jaundice syndrome did not. Seasonality was the most common predictor for watery and bloody diarrhoea, prolonged fever, suspected dengue, and acute fever plus rash in those aged 5 and over, explaining between 0.4% – 37.8% of the variation across all conditions. Higher rainfall was the most common predictor for acute fever plus rash and acute jaundice syndrome in children under 5, explaining between 1.0% – 7.6% variation across all conditions. Each EWARS syndromic condition case peak was associated with a different rainfall lag, varying between 0 and 11 weeks. The relationships between EWARS, rainfall and seasonality show that it is possible to predict when outbreaks will occur by following seasonality and rainfall. Pre-positioning of diagnostic and treatment resources could then be aligned with seasonality and rainfall peaks to plan and address water-related disease outbreaks.
    Keywords Leptospirosis ; Typhoid ; Dengue ; Rainfall ; Syndromic surveillance ; Public aspects of medicine ; RA1-1270 ; Meteorology. Climatology ; QC851-999
    Subject code 333
    Language English
    Publishing date 2022-05-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition.

    Gwaltney, Angela / Potter, Sarah Nelson / Peters, Sarika U / Barbieri-Welge, Rene L / Horowitz, Lucia T / Noll, Lisa M / Hundley, Rachel J / Bird, Lynne M / Tan, Wen-Hann / Sadhwani, Anjali / Wheeler, Anne

    Journal of autism and developmental disorders

    2023  

    Abstract: In the current study, we examined adaptive skills and trajectories over time in 257 individuals with Angelman syndrome (AS) using the Vineland Adaptive Behavior Scales, 2nd Edition. Multilevel linear models were used to examine differences between ... ...

    Abstract In the current study, we examined adaptive skills and trajectories over time in 257 individuals with Angelman syndrome (AS) using the Vineland Adaptive Behavior Scales, 2nd Edition. Multilevel linear models were used to examine differences between molecular subtypes over time, from one year to 13 years of age, in the adaptive domains of communication, daily living skills, socialization and motor skills. Individuals with non-deletion subtypes typically demonstrated a higher level of adaptive skills compared to those with deletion subtypes. Statistically significant growth was observed in all adaptive domains through at least early adolescence. Individuals with AS should continue to receive developmental services and educational supports through adolescence and into adulthood given the slow rates of growth being observed across adaptive domains.
    Language English
    Publishing date 2023-08-15
    Publishing country United States
    Document type Journal Article
    ZDB-ID 391999-7
    ISSN 1573-3432 ; 0162-3257
    ISSN (online) 1573-3432
    ISSN 0162-3257
    DOI 10.1007/s10803-023-06090-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina.

    Kucera, Katerina S / Boyea, Beth Lincoln / Migliore, Brooke / Potter, Sarah Nelson / Robles, Veronica R / Kutsa, Oksana / Cope, Heidi / Okoniewski, Katherine C / Wheeler, Anne / Rehder, Catherine W / Smith, Edward C / Peay, Holly L

    Genetics in medicine : official journal of the American College of Medical Genetics

    2023  Volume 26, Issue 1, Page(s) 101009

    Abstract: Purpose: Current and emerging treatments for Duchenne muscular dystrophy (DMD) position DMD as a candidate condition for newborn screening (NBS). In anticipation of the nomination of DMD for universal NBS, we conducted a prospective study under the ... ...

    Abstract Purpose: Current and emerging treatments for Duchenne muscular dystrophy (DMD) position DMD as a candidate condition for newborn screening (NBS). In anticipation of the nomination of DMD for universal NBS, we conducted a prospective study under the Early Check voluntary NBS research program in North Carolina, United States.
    Methods: We performed screening for creatine kinase-MM (CK-MM), a biomarker of muscle damage, on residual routine newborn dried blood spots (DBS) from participating newborns. Total creatine kinase testing and next generation sequencing of an 86-neuromuscular gene panel that included DMD were offered to parents of newborns who screened positive. Bivariate and multivariable analyses were performed to assess effects of biological and demographic predictors on CK-MM levels in DBS.
    Results: We screened 13,354 newborns and identified 2 males with DMD. The provisional 1626 ng/mL cutoff was raised to 2032 ng/mL to improve specificity, and additional cutoffs (900 and 360 ng/mL) were implemented to improve sensitivity for older and low-birthweight newborns.
    Conclusion: Population-scale screening for elevated CK-MM in DBS is a feasible approach to identify newborns with DMD. Inclusion of birthweight- and age-specific cutoffs, repeat creatine kinase testing after 72 hours of age, and DMD sequencing improve sensitivity and specificity of screening.
    MeSH term(s) Male ; Humans ; Infant, Newborn ; Muscular Dystrophy, Duchenne/diagnosis ; Muscular Dystrophy, Duchenne/epidemiology ; Muscular Dystrophy, Duchenne/genetics ; Neonatal Screening ; Birth Weight ; North Carolina/epidemiology ; Prospective Studies ; Creatine Kinase
    Chemical Substances Creatine Kinase (EC 2.7.3.2)
    Language English
    Publishing date 2023-10-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2023.101009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Nutrition Education for the Health-care Provider Improves Patient Outcomes

    Vanessa Baute MD / Revathy Sampath-Kumar BS / Sarah Nelson BS / Barbara Basil BA

    Global Advances in Health and Medicine, Vol

    2018  Volume 7

    Abstract: Nutrition education is globally lacking in medical training, despite the fact that dietary habits are a crucial component of physician self-care, disease prevention, and treatment. Research has shown that a physician’s health status directly affects the ... ...

    Abstract Nutrition education is globally lacking in medical training, despite the fact that dietary habits are a crucial component of physician self-care, disease prevention, and treatment. Research has shown that a physician’s health status directly affects the quality of their preventative health counseling and patient outcomes, yet on average less than 20 hours over 4 years of medical education is spent teaching nutrition. This leaves providers with a gap in knowledge regarding this critical component of health. In a recent study, only 14% of resident physicians reported being adequately trained to provide nutritional counseling. Educating health-care professionals on how to eat well provides an opportunity to improve physician and patient well-being.
    Keywords Medicine (General) ; R5-920 ; Public aspects of medicine ; RA1-1270
    Language English
    Publishing date 2018-08-01T00:00:00Z
    Publisher SAGE Publishing
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Thesis ; Online: The extracellular matrix of the charophycean green algae

    Kiemle, Sarah Nelson

    2010  

    Abstract: A comprehensive knowledge of cell wall structure and function throughout the plant kingdom is essential to understanding cell wall evolution. The fundamental understanding of the charophycean green algal cell wall is broadening. The similarities and ... ...

    Abstract A comprehensive knowledge of cell wall structure and function throughout the plant kingdom is essential to understanding cell wall evolution. The fundamental understanding of the charophycean green algal cell wall is broadening. The similarities and differences that exist between land plant and algal cell walls provide opportunities to understand plant evolution. A variety of polymers previously associated with higher plants were discovered in the charophycean green algae (CGA), including homogalacturonans, cross-linking glycans, arabinogalactan protein, β-glucans, and cellulose. The cellulose content of CGA cell walls ranged from 6% to 43%, with the higher valuescomparable to that found in the primary cell wall of land plants (20-30%). (1,3)β-glucans were found in the unicellular Chlorokybus atmophyticus, Penium margaritaceum, and Cosmarium turpini, the unbranched filamentous Klebsormidium flaccidum, and the multicellular Chara corallina. The discovery of homogalacturonan in Penium margaritaceum represents the first confirmation of land plant-type pectins in desmids and the second rigorous characterization of a pectin polymer from the charophycean algae. Homogalacturonan was also indicated from the basal species Chlorokybus atmophyticus and Klebsormidium flaccidum. There is evidence of branched pectins in Cosmarium turpini and linkage analysis suggests the presence of type I rhamnogalacturonan (RGI). Cross-linking β-glucans are associated with cellulose microfibrils during land plant cell growth, and were found in the cell wall of CGA. The evidence of mixed-linkage glucan (MLG) in the charophytes is both suprising and significant given that MLG was once thought to be specific to some grasses. The organization and structure of Cosmarium turpini and Chara corallina MLG was found to be similar to that of Equisetum spp., whereas the basal species of the CGA, Chlorokybus atmophyticus and Klebsormidium flaccidum, have unique organization of alternating of 3- and 4-linkages. The significance of this result on the evolution of the MLG synthetic pathway has yet to be determined. The extracellular matrix (ECM) of Chlorokybus atmophyticus, Klebsormidium flaccidum, and Spirogyra spp. exhibits significant biochemical diversity, ranging from distinct “land plant” polymers to polysaccharides unique to these algae. The neutral sugar composition of Chlorokybus atmophyticus hot water extract and Spirogyra extracellular polymeric substance (EPS), combined with antibody labeling results, revealed the distinct possibility of an arabinogalactan protein in these organisms. Polysaccharide analysis of Zygnematales (desmid) EPS, indicated a probable range of different EPS backbones and substitution patterns upon the core portions of the molecules. Desmid EPS is predominately composed of a complex matrix of branched, uronic acid containing polysaccharides with ester sulfate substitutions and, as such, has an almost infinite capacity for various hydrogen bonding, hydrophobic interaction and ionic cross-bridging motifs, which characterize their unique function in biofilms. My observations support the hypothesis that members of the CGA represent the phylogenetic line that gave rise to vascular plants and that the primary cell wall of vascular plants many have evolved directly from structures typical of the cell wall of filamentous green algae found in the charophycean green algae.
    Keywords Cellular biology|Biochemistry
    Subject code 580
    Language ENG
    Publishing date 2010-01-01 00:00:01.0
    Publisher Michigan Technological University
    Publishing country us
    Document type Thesis ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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