Written by nurse practitioners for nurse practitioners, this one-of-a-kind resource provides the expert guidance you need to provide comprehensive primary care to children with special needs and their families. It addresses specific conditions that require alterations in standard primary care and offers practical advice on managing the major issues common to children with chronic conditions. A consistent format makes it easy to locate essential information on each condition. Plus, valuable resources help you manage the issues and gaps in health care coverage that may hinder quality care.

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Poster exhibited at GPSC Student Showcase, November 7th, 2014, University of Arizona. / Given the early emergence of Alzheimer’s disease (AD) related pathology in Down syndrome (DS; Trisomy 21), it is possible that changes may be evident in childhood or adolescence in Apolipoprotein (APOE) e3/e4 or e4/e4 genotypes in relation to e3/e3 genotypes. Given findings of early involvement of striatum amyloid beta (Aβ) peptide deposition in DS, we propose that a profile of executive and inhibitory control dysfunction will be found in youth carrying the risk e4 allele. From a pool of 72 children and adolescents with DS we examined a sub-sample with the risk e4 allele (n = 8; e3/e4) and without the risk e4 allele (n = 8; e3/e3). Participants were matched for age and ethnicity (range 8 - 21 years; mean age 14 years). Karyotypes were gathered from medical records, confirming a diagnosis of Trisomy 21. We collected genetic information (Oragene saliva kit) in home; they were sent to the Emory Biomarker Service Center to determine genotypes. We administered the Kaufman Brief Intelligence Test (KBIT-2) and a set of cognitive outcomes measures validated for Down syndrome, the Arizona Cognitive Test Battery. Results from the KBIT-2 indicated no significant differences in verbal raw score (p = 0.65), non-verbal raw score (p = 0.69), or intelligence quotient (IQ) (p = 0.32). Neuropsychological test scores did differ; with poorer performance in the e4 sample on the CANTAB Paired Associates Learning task (p = 0.05) and parent/caregiver reports of working memory (p = 0.08). Therefore, as early as adolescence some changes may be seen in e4 carriers.

<p>This thesis presents a study of children’s speech. The children have Down syndrome (DS). Often the speech of children with DS is hard for other people to understand. The aim of the study is to try a new way of describing these children’s speech. My perspective reflects an ambition to conceive the children as active, speaking subjects.</p><p>In phenomenology human beings are regarded as always being intentional. The phenomenological perspective on intentionality views articulation as intentional, even though we normally experience it as “automatic”. This seemed to be a fertile perspective for this study, where the central focus is on the intentionality in the speech, i.e. the relation between the speaker and his or her speech while speaking. I have drawn mainly on Merleau-Ponty’s views on speech.</p><p>The speech of four children 6–7 years old was studied. The children were videotaped together with an adult in a specific situation (while naming pictures of familiar objects). The children’s speech was transcribed phonetically and some of the words were subjected to acoustic analysis. The main features of the situation were noted down. By means of the acoustic analysis, it was possible to study particular words in minute detail. These words were interpreted in relation to the context in which each utterance was made.</p><p>The four children all differ individually in their speaking strategies. The children’s speaking strategies may be described as flexible or rigid, diversified or undiversified. Within the child’s total expression there is a part which, in my opinion, the child could reach and develop. In my study, I introduce the terms the accessible speech or the accessible expression for that part of the child’s expression. By the terms the visible speech or the visible expression, I have tried to capture the part of the expression which I conceive that the child is capable of approaching as an object.</p><p>The terms accessibility and visibility involve the notion of intentionality; the speech is accessible or visible to someone. The children show us what is within reach for them. I believe that a good starting point for supporting the children’s speech development is the point where they reveal accessible and/or visible speech.</p>

The recent evidence concerning the nature of cognitive development in Down Syndrome (DS) suggests that it is different than normal development. The neuropathology seen in DS implicates a prenatal interruption of normal neural development as a possible basis for these differences. Since the hippocampal formation (HF) undergoes extensive postnatal maturation and is found to be abnormal in DS, it is proposed that cognitive deficits associated with DS would be most evident in tasks requiring hippocampal function. The performance of DS children at 16-18 months and 28-30 months of age was compared to that of age-matched control groups of normal children on two cognitive tasks requiring abilities that develop during the first postnatal year shown not to involve hippocampal function, and a task requiring abilities that develop during the second postnatal year shown to require hippocampal functioning. The results show that the DS performed comparably on the nonhippocampal tasks but differently on the hippocampal task. The normal children's performance supports the position that the ability to perform HF tasks develops during the second postnatal year while the performance of the older DS children suggested that this development does not occur in DS. The specificity of the deficits to the hippocampal task was interpreted as indicative of a lack of HF development in DS.

Children and adolescents with Down Syndrome (DS) have a high incidence of sleep problems, including Obstructive Sleep Apnea Syndrome (OSAS). They are also likely to have deficits in neuropsychological tasks tapping prefrontal function and hippocampal function. There has recent revival of literature suggesting an active role for sleep in memory consolidation and problem-solving in both children and adults. Furthermore, given the cognitive and behavioral sequellae of OSAS in typically developing children it is logical to test if the hypoxemia and increased sleep fragmentation, the two major pathophysiological mechanisms of OSAS, seen in children with DS and OSAS may exacerbate learning or behavior disorders.Forty children with DS aged 7-18 were administered the Arizona Cognitive Test Battery (ACTB) for DS (Edgin et al., 2010), and in-home ambulatory polysomnography. Their parents were asked to complete several questionnaires assessing their child's sleep and behavior. Seventy-seven percent (n = 40) of our sample met criteria for pediatric sleep apnea (AHI>1.5), and the mean apnea hypoppnea index (AHI) was 8.4 events per hour. Our sample had a mean arousal index of 10.3, a respiratory arousal index of 3.2, and a SaO2 nadir of 86.9%. Over 70% of our sample had a SaO2 nadir below 90%. We examined the relationship between OSAS severity and cognitive and behavioral outcomes. We found that children with DS with a lower apnea hypopnea index (AHI) attained a greater number of stages on the CANTAB PAL task compared to chronologically age-matched children with higher AHI, and the variance in performance was partially explained by sleep fragmentation (i.e., the arousal index) and experimenter-rated "attention" but not hypoxemia. In addition, we also found that the low apnea group showed a trend toward outperforming the high apnea group on the KBIT-II Verbal IQ scale and DAS-2 Pattern Construction subtest.These findings have important clinical implications. First, these results suggest that early screening for OSAS in DS is important, as OSAS severity seems to explain some of the variance in cognitive functioning. Second, these findings suggest that an early intervention for OSAS might be warranted.

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Student Number : 9703129J - MSc(Med) research report - School of Pathology - Faculty of Health Sciences / Down syndrome is the commonest cause of congenital developmental disability in industrialized countries, where it occurs in approximately 1.4 per 1000 live births. In South Africa, the birth prevalence of Down syndrome was documented as 1.8 and 2.09 per 1000 live births in urban and rural populations, respectively. The physical, psychosocial and emotional burden of Down syndrome on affected families is significant. The aim of this study was to determine the reproductive choices of women with a child with Down syndrome, aged 1 year or older. The survey was conducted using a structured questionnaire. The sample consisted of fifty women; 36 African, 4 Asian and 10 Caucasian. The questionnaire assessed the mothers’ knowledge of Down syndrome prior to diagnosis, what counselling was received and how this knowledge was utilised. Information was also obtained on the mothers’ use of family planning, the knowledge and use of prenatal medical genetic screening and diagnosis, and what decisions would be made in future pregnancies. None of the sample group of mothers had prenatal diagnosis in their pregnancy with their Down syndrome child, but 76% (38) said that they would want prenatal diagnosis in any future pregnancies. Of the 50 mothers, 21 (42%) said they would terminate a pregnancy if Down syndrome had been detected, 26 (52%) said they would not, and 3 (6%) said they were unsure what they would have done if faced with this decision. Of the Caucasian women, 40% (4) said they would opt for termination of pregnancy, 40% (4) said they would not and 20% (2) were unsure. Of the African and Asian women, 52.8% (19) and 75% (3) respectively said they would not terminate an affected fetus. The information from this study can be used to improve the understanding of how women and their families cope with their children with Down syndrome and give insight for the provision of more effective and comprehensive genetic counselling.

Considerando-se que o conhecimento do educando é condição necessária ao se propor diretrizes para sua educação, este trabalho procurou obter dados que permitissem verificar a existência ou não de um perfil identificando o portador da Síndrome de Down. Assim, numa metodologia de Pesquisa Qualitativa, buscou dimensionar as características importantes para essa verificação, através de entrevistas semiestruturadas com mães e professoras de crianças portadoras da Síndrome de Down que frequentaram o Setor Educacional da APAE (Associação de Pais e Amigos dos Excepcionais), de São Paulo. Tanto as mães como as professoras enfatizaram a facilidade na comunicação oral, favorecendo os contatos afetivo-sociais do portador da Síndrome de Down, No entanto, foram divergentes quanto à caracterização de sua afetividade, não confirmando as informações iniciais quanto à sua docilidade e amistosidade. As mães revelaram suas necessidades de se sentirem atendidas e apoiadas a partir da notícia do diagnóstico da Síndrome de Down e durante todo o desenvolvimento, inclusive ao se referirem às próprias dificuldades em lidar com o assunto vida sexual e suas implicações. Constatou-se, portanto, a necessidade de uma atenção à família para uma ação eficaz, logo nos primeiros anos de vida da criança portadora da Síndrome de Down, considerando-se este período como marco inicial para sua educação. Os dados também revelaram necessidades específicas do portador da Síndrome de Down, a partir de dificuldades de compreensão mais abstratas detectadas pelas professoras, bem como de práticas pedagógicas, levando em conta o seu ritmo de aprendizagem. Esta e outras características assinalaram alguns pontos para se pensar ou repensar a educação do Portador da Síndrome de Down. / Considering that the knowledge of the student is a necessary condition to propose guidelines to his education, this work aimed to obtain data that could verify the existence or not of a way to identify the child with Down s Syndrome. Thus, this work searched for important characteristics, with a methodology of Qualify Survey, by interviewing mothers and teachers of children with Downs Syndrome who attended the Central Educational Departmente of APAE (Associação de Pais e Amigos dos Excepcionais) of São Paulo. Both the mothers and the teachers emphasize the facility in oral communication enabling the affective and social contacts. However, they were divergent concerning the characterization of the childrens affectiveness and also they did not confirm their prior information about the childrens meekness and amicability. The mothers showed their need to the supported when they come to know the diagnostic of the Downs Syndrome and its development, and also related to their own difficulties in dealing with some matters like sexual life and his implications. It was found out, therefore, that the need of an attention to the family in the first years of the child as an effective action and considering this period the initial point in his education. The data also showed some specific needs of the children related to their difficulties in comprehending abstract things noted by their teachers as well as in pedagogical practices, taking into consideration their learning rhythm. This and other characteristics showed some points to think about the education of the children with Downs Syndrome.