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1.
Curr Opin Pediatr ; 36(4): 442-448, 2024 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-38747208

RESUMO

PURPOSE OF REVIEW: Use of recombinant human growth hormone (rhGH) treatment to increase height in children with non-growth hormone deficient short stature is becoming more common. Yet, the evidence to support the notion that augmenting height directly leads to increased well being, specifically psychosocial well being, is inconsistent, with high-quality evidence lacking. RECENT FINDINGS: Review of recent studies demonstrates that the association between height augmentation and psychosocial well being is complex. The direct contribution of height to well being may be less than the current model of clinical care of short stature assumes. Rather, the new studies provide evidence to support a role for psychosocial factors, including height-related beliefs, social support, and coping skills, in promoting psychosocial well being, specifically quality of life and self-esteem. SUMMARY: Clinical care of short stature would benefit from incorporating a holistic model of care that considers psychosocial interventions in addition to, or instead of, rhGH treatment.


Assuntos
Transtornos do Crescimento , Hormônio do Crescimento Humano , Qualidade de Vida , Humanos , Hormônio do Crescimento Humano/uso terapêutico , Criança , Transtornos do Crescimento/tratamento farmacológico , Transtornos do Crescimento/psicologia , Apoio Social , Adaptação Psicológica , Estatura , Autoimagem , Saúde Holística , Funcionamento Psicossocial
2.
Dev Med Child Neurol ; 62(8): 993-998, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-31845314

RESUMO

The aim of this case series was to assess and characterize cognitive abilities, autistic traits, and adaptive behaviour in Tatton-Brown-Rahman syndrome (TBRS). The sample included 18 individuals with a clinical and genetic diagnosis of TBRS (11 males, seven females; mean age 17y 7mo, SD 9y 5mo, range 7y 2mo-33y 10mo). The British Ability Scales, Third Edition and the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) were administered to all participants. The Social Responsiveness Scale, Second Edition and the Vineland Adaptive Behaviour Scales, Third Edition were completed by a parent/caregiver. The majority of participants (n=15) had intellectual disability and General Conceptual Ability scores ranged from 39 to 76 (mean 53.17, SD 12.13). Participants displayed a profile of better verbal ability compared with non-verbal reasoning ability and spatial ability. Autistic traits were prevalent and eight participants scored above the cut-off on the ADOS-2, although symptoms were less pronounced in older individuals. Adaptive functioning was impaired but commensurate with intellectual ability. Overall, TBRS is associated with an uneven cognitive profile and a high prevalence of autistic traits. This has implications for identifying appropriate services and support that may be beneficial for individuals with TBRS. WHAT THIS PAPER ADDS: Tatton-Brown-Rahman syndrome is associated with intellectual disability and impaired adaptive functioning. Autistic traits were prevalent within the sample. Lower intellectual ability and adaptive behaviour were associated with greater severity of autistic traits.


Assuntos
Cognição , Transtornos do Crescimento/psicologia , Deficiência Intelectual/psicologia , Adolescente , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/psicologia , Feminino , Transtornos do Crescimento/complicações , Humanos , Deficiência Intelectual/complicações , Masculino , Testes Neuropsicológicos , Fenótipo , Síndrome
3.
Nutr Health ; 26(2): 115-125, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32223502

RESUMO

BACKGROUND: Nutrition education has the potential to improve eating habits, physical activity and nutritional status of schoolchildren. AIM: This study aimed to determine the nutritional status, physical activity levels and the associated nutrition knowledge of primary school learners aged 9-14 years in Harare, Zimbabwe. METHODS: A cross-sectional survey was conducted among learners (n = 368) from eight primary schools. A self-administered questionnaire was used to collect sociodemographic, nutrition knowledge and physical activity data. The weights and heights were measured using World Health Organization (WHO) standards. Pearson chi-square and Fisher's exact tests were used to assess association between categorical variables. Binary logistic regression was used to explore the determinants of wasting and overweight. The level of significance was set at p < 0.05. RESULTS: Overweight, wasting and stunting affected 25.8%, 6.3% and 3% of the learners, respectively. Only 52.7% of the learners achieved the WHO recommended 60 minutes of physical activity. The mean±standard deviation nutrition knowledge score of the learners was 70.3±10.9%. Stunted children were more likely to be wasted (odds ratio (OR) = 4.38; 95% confidence interval (CI) 1.07-17.8; p = 0.039). Inadequate dietary diversity score (OR = 0.44; 95% CI 0.22-0.87; p = 0.018) and using non-active forms of transportation (OR = 2.69; 95% CI 1.52-4.76; p = 0.001) were a significant predictor of overweight among the learners. CONCLUSIONS: Overweight was the leading form of malnutrition, coexisting with undernutrition, reflecting the presence of a 'double burden of malnutrition'. Therefore, comprehensive and multi-sectoral interventions to improve healthy eating and physical activity are warranted.


Assuntos
Fenômenos Fisiológicos da Nutrição Infantil , Exercício Físico , Conhecimentos, Atitudes e Prática em Saúde , Estado Nutricional , Sobrepeso/epidemiologia , Adolescente , Criança , Estudos Transversais , Dieta , Comportamento Alimentar , Feminino , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/psicologia , Humanos , Masculino , Desnutrição/epidemiologia , Desnutrição/psicologia , Sobrepeso/psicologia , Instituições Acadêmicas , Inquéritos e Questionários , Síndrome de Emaciação/epidemiologia , Síndrome de Emaciação/psicologia , Zimbábue
4.
Med Humanit ; 46(1): 2-11, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30478090

RESUMO

This article examines how people who are shorter than average make sense of their lived experience of embodiment. It offers a sociophenomenological analysis of 10 semistructured interviews conducted in the Netherlands, focusing on if, how, and why height matters to them. It draws theoretically on phenomenological discussions of lived and objective space, intercorporeality and norms about bodies. The analysis shows that height as a lived phenomenon (1) is active engagement in space, (2) coshapes habituated ways of behaving and (3) is shaped by gendered norms and beliefs about height. Based on this analysis, the article challenges what we label as the 'problem-oriented approach' to discussions about growth hormone treatment for children with idiopathic short stature. In this approach, possible psychosocial disadvantages or problems of short stature and quantifiable height become central to the ethical evaluation of growth hormone treatment at the expense of first-hand lived experiences of short stature and height as a lived phenomenon. Based on our sociophenomenological analysis, this paper argues that the rationale for giving growth hormone treatment should combine medical and psychological assessments with investigations of lived experiences of the child. Such an approach would allow considerations not only of possible risks or disadvantages of short stature but also of the actual ways in which the child makes sense of her or his height.


Assuntos
Estatura , Transtornos do Crescimento/psicologia , Hormônio do Crescimento/uso terapêutico , Terapia de Reposição Hormonal/ética , Medicalização/ética , Atitude , Criança , Compreensão , Feminino , Transtornos do Crescimento/tratamento farmacológico , Terapia de Reposição Hormonal/psicologia , Humanos , Masculino , Países Baixos , Autoimagem
5.
Clin Endocrinol (Oxf) ; 91(2): 304-313, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31077606

RESUMO

BACKGROUND: Health-related quality of life (HRQOL) may improve as an additional benefit of the growth hormone treatment (GHT) in children with short stature, but this effect has not been conclusively proven. OBJECTIVES: To explore the direct effect of GHT on HRQOL in children starting GHT due to isolated or multiple GH deficiency (IGHD), acquired GH deficiency (AGHD) and Turner syndrome (TS), in comparison with untreated short stature controls in 18 UK centres. METHODS: We used recognized measures of HRQOL, the PedsQL, the Strengths and Difficulties Questionnaire and Youth Life Optimism Test scales to investigate the effect of GHT at 0, 6 and 12 months in children and adolescents 6-16 years with IGHD (n = 73) and AGHD (n = 45), and 22 girls with TS. 49 children with non-GHD short stature served as the controls. RESULTS: Children rated their HRQOL better than their parents. Those with IGHD and TS rated their overall HRQOL lower than the controls at baseline, psychosocial scores significantly lower in IGHD. After 12 months, the control and TS groups scored higher than UK norms. Those with AGHD had lowest HRQOL scores at all time points, due to poorer physical functioning. The controls showed the greatest improvement in the strength and difficulties scale. All measures evaluated, whether from child, parent or teacher showed an equal improvement over the year of GHT with no discernible direct treatment effect, despite reduced numbers in some patient groups. CONCLUSIONS: Children with short stature resulting from GHD have lower functioning than controls but HRQOL appears to improve with GHT, most likely on account of greater attention and as a result of the retest phenomenon. We were not able to demonstrate an absolute and independent effect of GHT in itself. HRQOL should not be used as a primary measure, as in adults, to determine whether children should receive GHT.


Assuntos
Nanismo Hipofisário/tratamento farmacológico , Transtornos do Crescimento/tratamento farmacológico , Nível de Saúde , Hormônio do Crescimento Humano/uso terapêutico , Qualidade de Vida , Síndrome de Turner/tratamento farmacológico , Adolescente , Adulto , Estatura/efeitos dos fármacos , Estatura/fisiologia , Criança , Nanismo Hipofisário/fisiopatologia , Nanismo Hipofisário/psicologia , Feminino , Transtornos do Crescimento/fisiopatologia , Transtornos do Crescimento/psicologia , Humanos , Masculino , Estudos Prospectivos , Inquéritos e Questionários , Síndrome de Turner/fisiopatologia , Síndrome de Turner/psicologia
6.
BJOG ; 126(5): 590-598, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30290065

RESUMO

OBJECTIVE: To examine the association between postpartum depression and child growth in a Tanzanian birth cohort. DESIGN: Prospective cohort study. SETTING: Moshi, Tanzania. POPULATION: Pregnant women over the age of 18 who sought antenatal care at two health clinics in Moshi, and the children they were pregnant with, were assessed for inclusion in this study. METHODS: The women were interviewed twice during pregnancy and three times after birth, the final follow up taking place 2-3 years postpartum. Signs of postpartum depression were assessed approximately 40 days postpartum with the Edinburgh Postnatal Depression Scale. MAIN OUTCOME MEASURES: Child growth was assessed with anthropometric measurements at 2-3 years of age and expressed as mean z-scores. RESULTS: In all, 1128 mother-child pairs were followed throughout the duration of the study. In total, 12.2% of the mothers showed signs of postpartum depression. Adjusted mean height-for-age z-score (HAZ) was significantly lower at 2-3 years follow up for children of mothers with postpartum depression than for children of mothers without (difference in HAZ: -0.32, 95% CI-0.49 to -0.15). Adjusted mean weight-for-height z-score (WHZ) was significantly increased for the children exposed to postpartum depression (difference in WHZ: 0.21, 95% CI 0.02-0.40), whereas there was no significant difference in adjusted weight-for-age z-score (WAZ; difference in WAZ: -0.04, 95% CI -0.20 to 0.12). CONCLUSIONS: We found that postpartum depressive symptoms predicted decreased linear height in children at 2-3 years of age and slightly increased weight-for-height. TWEETABLE ABSTRACT: Postpartum depression in Tanzanian mothers is associated with impaired child growth at 2-3 years of age.


Assuntos
Desenvolvimento Infantil , Filho de Pais com Deficiência/estatística & dados numéricos , Depressão Pós-Parto , Transtornos do Crescimento/psicologia , Mães/psicologia , Adulto , Pré-Escolar , Feminino , Gráficos de Crescimento , Humanos , Masculino , Gravidez , Estudos Prospectivos , Tanzânia , Adulto Jovem
7.
Health Qual Life Outcomes ; 17(1): 49, 2019 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-30885197

RESUMO

BACKGROUND: The Quality of Life of Short Stature Youth (QoLISSY) questionnaire is a patient- and parent-reported outcome measure assessing health-related quality of life (HRQOL) in short stature youth. This study evaluates the psychometric properties of the QoLISSY questionnaire within a German prospective trial of short statured children treated with human growth hormone (hGH). METHOD: The instrument was administered to children with idiopathic growth hormone Deficiency (IGHD) and small for gestational age (SGA) before and after 12 month of hGH treatment. Children with idiopathic short stature (ISS) served as a reference group receiving no treatment. Psychometric testing included scale distribution characteristics, reliability (internal consistency), criterion-and convergent validity (correlations with the generic KIDSCREEN-Index, inter-correlations among QOLISSY subscales), known-group validity (treatment status, height SDS), and responsiveness analysis (ability to detect change). RESULTS: One hundred fifty-two parents and 66 children/adolescents completed both HRQOL assessments. The QoLISSY demonstrated good reliability with Cronbach's alpha > .70. Moderate significant correlations between QoLISSY domains and the KIDSCREEN-10 Index supported criterion validity. Statistically significant differences in HRQOL were observed between treatment groups at baseline with children who were about to start treatment reporting a significantly lower HRQOL compared to the children who will not receive treatment. No significant differences were found between the level of short stature based on height SDS scores (≤ - 2 SDS, > - 2 SDS). Furthermore, the instrument detected significant changes in HRQOL between the treated and the untreated group in patient-reports. CONCLUSIONS: In conclusion, the scales showed satisfactory reliability, adequate validity and ability to detect change in self-reported HRQOL within GH treatment. Findings support QoLISSY's further use in clinical trials, offering the opportunity to adequately assess HRQOL from the patients' and caregivers' perspective to improve patient-centered care.


Assuntos
Transtornos do Crescimento/psicologia , Pais/psicologia , Qualidade de Vida/psicologia , Inquéritos e Questionários/estatística & dados numéricos , Adolescente , Criança , Nanismo/psicologia , Feminino , Alemanha , Hormônio do Crescimento Humano , Humanos , Masculino , Estudos Prospectivos , Psicometria , Reprodutibilidade dos Testes
8.
Sociol Health Illn ; 41(3): 502-516, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30447007

RESUMO

This paper proposes a 'valuographic' approach to diagnosis, exploring how values and valuation practices are implicated in the contested diagnostic category of idiopathic short stature (ISS). ISS describes children who are 'abnormally' short but do not have any other detectable pathology. In the USA growth-promoting hormone therapy has been approved for ISS children, since 2003. However, no other jurisdiction has approved this treatment and the value of ISS as a diagnostic category remains disputed among healthcare professionals. Drawing on qualitative interviews with paediatric endocrinologists in the UK and the US, this study presents a historical snapshot illustrating how the problematisation of ISS as a diagnosis involved multiple registers of value including epistemic, economic and moral calculations of worth. Contestation of the diagnosis was not just about what counts but about what ought to be counted, as respondents' accounts of ISS gave differential weight to a range of types of evidence and methods of assessment. Ultimately what was at stake was not just the value of increased height for short patients, but what it meant to properly practice paediatric endocrinology. Consideration is then given to how a valuographic approach can be applied to sociological studies of diagnosis more broadly.


Assuntos
Estatura , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/economia , Hormônio do Crescimento Humano/economia , Análise Custo-Benefício , Feminino , Transtornos do Crescimento/tratamento farmacológico , Transtornos do Crescimento/psicologia , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Entrevistas como Assunto , Masculino , Sociologia Médica , Reino Unido , Estados Unidos
9.
Child Care Health Dev ; 45(4): 509-517, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30986888

RESUMO

BACKGROUND: Improving child nutritional status is an important step towards achieving the Sustainable Development Goals 2 and 3 in developing countries. Most child nutrition interventions in these countries remain variably effective because the strategies often target the child's mother/caregiver and give limited attention to other household members. Quantitative studies have identified individual level factors, such as mother and child attributes, influencing child nutritional outcomes. METHODS: We used a qualitative approach to explore the influence of household members on child feeding, in particular, the roles of grandmothers and fathers, in two Nairobi informal settlements. Using in-depth interviews, we collected data from mothers of under-five children, grandmothers, and fathers from the same households. RESULTS: Our findings illustrate that poverty is a root cause of poor nutrition. We found that mothers are not the sole decision makers within the household regarding the feeding of their children, as grandmothers appear to play key roles. Even in urban informal settlements, three-generation households exist and must be taken into account. Fathers, however, are described as providers of food and are rarely involved in decision making around child feeding. Lastly, we illustrate that promotion of exclusive breastfeeding for 6 months, as recommended by the World Health Organization, is hard to achieve in this community. CONCLUSIONS: These findings call for a more holistic and inclusive approach for tackling suboptimal feeding in these communities by addressing poverty, targeting both mothers and grandmothers in child nutrition strategies, and promoting environments that support improved feeding practices such as home-based support for breastfeeding and other baby-friendly initiatives.


Assuntos
Fenômenos Fisiológicos da Nutrição Infantil/fisiologia , Relações Familiares/psicologia , Adulto , Aleitamento Materno/psicologia , Transtornos da Nutrição Infantil/diagnóstico , Transtornos da Nutrição Infantil/etiologia , Transtornos da Nutrição Infantil/psicologia , Pré-Escolar , Países em Desenvolvimento , Pai/psicologia , Comportamento Alimentar/psicologia , Feminino , Avós/psicologia , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Transtornos da Nutrição do Lactente/diagnóstico , Transtornos da Nutrição do Lactente/etiologia , Transtornos da Nutrição do Lactente/psicologia , Fenômenos Fisiológicos da Nutrição do Lactente/fisiologia , Entrevistas como Assunto , Quênia , Masculino , Pessoa de Meia-Idade , Estado Nutricional , Pobreza , Pesquisa Qualitativa , Características de Residência
10.
BMC Pediatr ; 18(1): 45, 2018 02 09.
Artigo em Inglês | MEDLINE | ID: mdl-29426302

RESUMO

BACKGROUND: Extreme poverty is severe deprivation of basic needs and services. Children living in extreme poverty may lack adequate parental care and face increased developmental and health risks. However, there is a paucity of literature on the combined influences of undernutrition and psychosocial factors (such as limited play materials, playground, playtime, interactions of children with their peers and mother-child interaction) on children's developmental outcomes. The main objective of this study was, therefore, to ascertain the association of developmental outcomes and psychosocial factors after controlling nutritional indices. METHODS: A community-based cross-sectional study design was used to compare the developmental outcomes of extremely poor children (N = 819: 420 girls and 399 boys) younger than 5 years versus age-matched reference children (N = 819: 414 girls and 405 boys) in South-West Ethiopia. Using Denver II-Jimma, development in personal-social, language, fine and gross motor skills were assessed, and social-emotional skills were evaluated using the Ages and Stages Questionnaires: Social-Emotional (ASQ: SE). Nutritional status was derived from the anthropometric method. Independent samples t-test was used to detect mean differences in developmental outcomes between extremely poor and reference children. Multiple linear regression analysis was employed to identify nutritional and psychosocial factors associated with the developmental scores of children in extreme poverty. RESULTS: Children in extreme poverty performed worse in all the developmental domains than the reference children. Among the 819 extremely poor children, 325 (39.7%) were stunted, 135 (16.5%) were underweight and 27 (3.3%) were wasted. The results also disclosed that stunting and underweightness were negatively associated with all the developmental skills. After taking into account the effects of stunting and being underweight on the developmental scores, it was observed that limited play activities, limited child-to-child interactions and mother-child relationships were negatively related mainly to gross motor and language performances of children in extreme poverty. CONCLUSION: Undernutrition and psychosocial factors were negatively related to the developmental outcomes, independently, of children living in extreme poverty. Intervention, for these children, should integrate home-based play-assisted developmental stimulation and nutritional rehabilitation.


Assuntos
Deficiências do Desenvolvimento/etiologia , Transtornos do Crescimento/complicações , Desnutrição/complicações , Pobreza/psicologia , Carência Psicossocial , Estudos de Casos e Controles , Desenvolvimento Infantil , Pré-Escolar , Estudos Transversais , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/economia , Deficiências do Desenvolvimento/psicologia , Etiópia , Feminino , Transtornos do Crescimento/economia , Transtornos do Crescimento/psicologia , Humanos , Lactente , Modelos Lineares , Masculino , Desnutrição/economia , Desnutrição/psicologia , Relações Mãe-Filho , Grupo Associado , Jogos e Brinquedos/psicologia
11.
Hum Reprod ; 32(2): 465-475, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-28057878

RESUMO

STUDY QUESTION: Are copy number variations (CNVs) in the pseudoautosomal regions (PARs) frequent in subjects with Y-chromosome microdeletions and can they lead to abnormal stature and/or neuropsychiatric disorders? SUMMARY ANSWER: Only subjects diagnosed with azoospermia factor (AZF)b+c deletions spanning to the end of the Y chromosome (i.e. terminal deletions) harbor Y isochromosomes and/or cells 45,X that lead to pseudoautosomal gene CNVs, which were associated with abnormal stature and/or neuropsychiatric disorders. WHAT IS KNOWN ALREADY: The microdeletions in the long arm of the Y chromosome (Yq) that include the loss of one to three AZF regions, referred to as Yq microdeletions, constitute the most important known etiological factor for primary spermatogenic failure. Recently, controversy has arisen about whether Yq microdeletions are associated with gain or loss of PAR genes, which are implicated in skeletal development and neuropsychiatric function. STUDY DESIGN, SIZE, DURATION: We studied a cohort of 42 Chilean patients with complete AZF deletions (4 AZFa, 4 AZFb, 23 AZFc, 11 AZFb+c) from a university medical center, diagnosed over a period of 15 years. The subjects underwent complete medical examinations with special attention to their stature and neuropsychiatric function. PARTICIPANTS/MATERIALS, SETTING, METHODS: All subjects were characterized for Yq breakpoints by PCR, and for CNVs in PARs by multiplex ligation-dependent probe amplification (MLPA), followed by qPCR analysis for genes in PAR1 (SHOX and ZBED1), PAR2 (IL9R) and two single copy genes (SRY and DDX3Y, respectively located in Yp11.3 and AZFa). In addition, karyotypes revision and fluorescence in situ hybridization (FISH) for SRY and centromeric probes for X (DXZ1) and Y (DYZ3) chromosomes were performed in males affected with CNVs. MAIN RESULTS AND THE ROLE OF CHANCE: We did not detect CNVs in any of the 35 AZF-deleted men with interstitial deletions (AZFa, AZFb, AZFc or AZFb+c). However, six of the seven patients with terminal AZFb+c deletions showed CNVs: two patients showed a loss and four patients showed a gain of PAR1 genes, with the expected loss of VAMP-7 in PAR2. In these patients, the Yq breakpoints localized to the palindromes P8, P5 or P4. In the four cases with gain of PAR1, qPCR analysis showed duplicated signals for SRY and DDX3Y and one copy of IL9R, indicating isodicentric Yp chromosomes [idic(Y)] with breakpoint in Yq11.22. The two patients who had loss of PAR1, as shown by MLPA, had an additional reduction for SRY and DDX3Y, as shown by qPCR, associated with a high proportion of 45,X cells, as determined by FISH and karyotype. In agreement with the karyotype analysis, we detected DYZ3++ and DYZ3+ cells by FISH in the six patients, confirming idic(Y) and revealing additional monocentric Y chromosome [i(Y)]. Five patients had a history of major depressive disorders or bipolar disorder, and three had language impairment, whereas two patients showed severe short stature (Z score: -2.75 and -2.62), while a man with bipolar disorder was very tall (Z score: +2.56). LARGE SCALE DATA: N/A. LIMITATIONS, REASONS FOR CAUTION: The number of males studied with Y-chromosome microdeletions and normozoospermic controls with normal karyotypes may not be enough to rule out an association between AZF deletions and PAR abnormalities. The prevalence of Y isochromosomes and/or 45,X cells detected in peripheral blood does not necessarily reflect the variations of PAR genes in target tissues. WIDER IMPLICATIONS OF THE FINDINGS: This study shows that CNVs in PARs were present exclusively in patients with terminal AZFb+c deletions associated with the presence of Y isochromosomes and 45,X cells, and may lead to neuropsychiatric and growth disorders. In contrast, we show that men with interstitial Yq microdeletions with normal karyotypes do not have an increased risk of PAR abnormalities and of phenotypical consequences. Moreover, our results highlight the importance of performing molecular studies, which are not considered in the usual screening for patients with Yq microdeletions. STUDY FUNDING/COMPETING INTERESTS: This work was supported by the National Fund for Scientific and Technological Development of Chile (FONDECYT), grant no. 1120176 (A.C.). The authors declare that no conflicting interests exist.


Assuntos
Cromossomos Humanos Y , Transtornos do Crescimento/psicologia , Isocromossomos , Transtornos Mentais/genética , Oligospermia/genética , Regiões Pseudoautossômicas/genética , Adolescente , Adulto , Estatura/genética , Deleção Cromossômica , Variações do Número de Cópias de DNA , Humanos , Masculino , Adulto Jovem
12.
Trop Med Int Health ; 22(5): 631-637, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28278357

RESUMO

OBJECTIVE: To investigate 6-year-old to 8-year-old children's health, nutritional status and cognitive development in a predominantly rural area of KwaZulu-Natal, South Africa. METHODS: Cohort study of 1383 children investigating the association of demographic variables (area of residence, sex, pre-school education, HIV status, height for age and haemoglobin level) and family variables (socioeconomic status, maternal and paternal level of education), with children's cognitive performance. The latter was measured using the Grover-Counter Scale of Cognitive Development and subtests of the Kaufman Assessment Battery for Children, second edition (KABC-II). General linear models were used to determine the effect of these predictors. RESULTS: Area of residence and height-for-age were the statistically significant factors affecting cognitive test scores, regardless of attending pre-school. Paternal level of education was also significantly associated with the cognitive test scores of the children for all three cognitive test results, whereas HIV status, sex and their socioeconomic status were not. CONCLUSION: Children with low cognitive scores tended to be stunted (low height-for-age scores), lacked pre-school education and were younger. Area of residence and their parents' educational level also influenced their cognition.


Assuntos
Estatura , Desenvolvimento Infantil , Cognição , Disfunção Cognitiva/etiologia , Dieta/normas , Transtornos do Crescimento , Estado Nutricional , Fatores Etários , Criança , Saúde da Criança , Estudos de Coortes , Escolaridade , Pai , Feminino , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/psicologia , Humanos , Masculino , Características de Residência , População Rural , Instituições Acadêmicas , Fatores Socioeconômicos , África do Sul
13.
J Pediatr Gastroenterol Nutr ; 64(4): e100-e105, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-27755341

RESUMO

OBJECTIVES: Growth and feeding problems have been described in children with esophageal atresia (EA). Ongoing gastrointestinal and respiratory complications such as Gastroesophageal reflux disease, esophageal dysmotility, strictures, and respiratory infections may contribute. The aim of the study was to document the prevalence of malnutrition and feeding difficulties and examine predictive factors, which may influence feeding and growth in children attending a multidisciplinary EA clinic in Sydney, Australia. METHODS: A retrospective review of 75 children, ages 0 to 16 years, who attended a multidisciplinary EA clinic between 2011 and 2014. Data on demographics, comorbidities, nutrition, and mealtime behaviors were collected from their initial clinic appointment. Factors that may affect on growth and mealtime behaviors were identified and analyzed. RESULTS: Nine percent of children were malnourished and 9% were stunted. Infants, children with prior fundoplication, at risk of aspiration, or those who had surgery in the first year of life additional to EA repair were significantly more likely to be malnourished (P < 0.05). Fifty-four percent of children required texture modification at their meals, with parental concern being the most common reason. Younger children were less likely to be eating age-appropriate textures (P = 0.04) which improved after 5 years of age. CONCLUSIONS: Poor growth and inability to manage age-appropriate textures are often present in children with EA, particularly in the younger years. This highlights the need for early intervention in a specialist multidisciplinary EA clinic in which dietetics and speech pathology are available.


Assuntos
Atresia Esofágica/complicações , Transtornos da Alimentação e da Ingestão de Alimentos/etiologia , Transtornos do Crescimento/etiologia , Desnutrição/etiologia , Adolescente , Estatura , Peso Corporal , Criança , Pré-Escolar , Estudos Transversais , Atresia Esofágica/cirurgia , Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico , Transtornos da Alimentação e da Ingestão de Alimentos/epidemiologia , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Feminino , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/psicologia , Humanos , Lactente , Recém-Nascido , Masculino , Desnutrição/diagnóstico , Desnutrição/epidemiologia , Desnutrição/psicologia , Refeições/psicologia , Prevalência , Estudos Retrospectivos , Fatores de Risco
14.
Child Care Health Dev ; 43(4): 577-587, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28480514

RESUMO

BACKGROUND: Undernutrition contributes to at least half the estimated six million annual childhood deaths worldwide. Furthermore, one in three children fails to meet their developmental potential because of risks including stunting, illness, under-stimulation, poor responsive interactions and maternal depressive symptoms. Our study investigates the role of caregiving processes on children's height-for-age at 2 and 4 years. METHODS: The Pakistan Early Child Development Scale-up study assessed the longitudinal effectiveness of early nutrition and responsive stimulation interventions on growth and development at 4 years of age. In total, 1302 children were followed up from birth to 4 years. We leveraged path analyses to explore potential mediators of early intervention effects on children's height-for-age at 4 years, including maternal depressive symptoms, mother-child interaction quality, diarrhoeal illness and height-for-age at 2 years. RESULTS: Our final model had excellent model fit (comparative fix index = 0.999, Tucker-Lewis index = 0.998, root mean square error of approximation = 0.008) and showed that mother-child interaction quality mediated the effects of both enhanced nutrition and responsive stimulation interventions on height-for-age at 4 years via its longitudinal stability from 2 years of age (ß = 0.016, p = 0.005; ß = 0.048, p < 0.001, respectively). Further, diarrhoeal illness mediated the effects of maternal depressive symptoms at 1 year post partum on children's height-for-age at 4 years via the longitudinal stability of height-for-age z-score from 2 years of age onwards (ß = -0.007, p = 0.019). CONCLUSIONS: The quality of early caregiving experience mediated the association between both interventions and height-for-age. The effect of maternal depressive symptoms on growth was mediated by diarrhoeal illness. Programmatic approaches to child nutrition and growth must address all these potentially modifiable factors.


Assuntos
Desenvolvimento Infantil , Intervenção Educacional Precoce , Transtornos do Crescimento , Promoção da Saúde/organização & administração , Relações Mãe-Filho , Mães , Estatura , Desenvolvimento Infantil/fisiologia , Fenômenos Fisiológicos da Nutrição Infantil , Pré-Escolar , Diarreia/complicações , Diarreia/epidemiologia , Feminino , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Estudos Longitudinais , Masculino , Relações Mãe-Filho/psicologia , Mães/educação , Estado Nutricional , Paquistão , Pobreza
15.
Pediatr Endocrinol Rev ; 14(Suppl 2): 472-477, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28647952

RESUMO

Growth is the single most important indication of the health of a child. Identification of growth disorders in all children is crucial as growth failure can be the first sign of a number of acute and chronic conditions. However, gender and racial biases have resulted in inequities in the identification, referral and treatment of children with growth disorders. In addition, short children have been impacted by a number of psychosocial issues. Heightism is prejudice or discrimination against individuals based on height, and refers to discrimination against individuals whose height is not within the normal acceptable range. Studies have shown that short children have been affected by juvenilization, teasing, bullying, victimization, loss of independence/ overprotection, and exclusion. The role of the advanced practice nurse is critical in addressing heightism and racial and gender disparities in children with growth failure/short stature.


Assuntos
Estatura , Nanismo , Transtornos do Crescimento , Disparidades nos Níveis de Saúde , Preconceito , Prática Avançada de Enfermagem , Criança , Nanismo/epidemiologia , Nanismo/enfermagem , Nanismo/psicologia , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/enfermagem , Transtornos do Crescimento/psicologia , Humanos , Papel do Profissional de Enfermagem , Grupos Raciais , Fatores Sexuais
16.
BMC Pregnancy Childbirth ; 16: 107, 2016 05 16.
Artigo em Inglês | MEDLINE | ID: mdl-27184026

RESUMO

BACKGROUND: According to United Nation Children's Fund, it has been estimated that worldwide about 165 million children were stunted in 2012 and India alone accounts for 38 % of global burden of stunting. This study aims to examine the effect of pregnancy intention and maternal postnatal depressive symptoms on early childhood stunting in India. We hypothesized that effect of pregnancy intention and postnatal depressive symptoms were mediated by social support. METHODS: We used data from the first wave of Young Lives Study India. Multivariate logistic regression models (using generalized estimation equation) were used to examine the effect of pregnancy intention and postnatal depressive symptoms on early childhood stunting among children aged 5-21 months. The analysis included 1833 children (out of 2011 sample children) that had complete information on pregnancy intention, maternal depression and other variables. RESULTS: Bivariate results indicate that a higher percent of children born after unintended pregnancy (40 %) were stunted than children of intended pregnancy (26 %). Likewise, the proportion of stunted children was also higher among women with high postnatal depressive symptoms (35 %) than the low level of depression (24 %). Results of multivariate logistic regression model indicate that children born after unintended pregnancy were significantly more likely to be stunted than children born after intended pregnancy (AOR: 1.76, CI: 1.25, 2.48). Similarly, early childhood stunting was also associated with maternal postnatal depressive symptoms (AOR: 1.53, CI: 1.21, 1.92). Moreover, the effect of pregnancy intention and postnatal depressive symptoms on early childhood stunting were not mediated by social support. CONCLUSIONS: The findings of this study provide conclusive evidence regarding consequences of pregnancy intention and postnatal depressive symptoms on early childhood stunting in India. Therefore, there is a need to identify the women with unintended pregnancy and incorporate the promotion of mental health into their national reproductive and child health programme.


Assuntos
Depressão Pós-Parto/psicologia , Transtornos do Crescimento/psicologia , Mães/psicologia , Gravidez não Planejada/psicologia , Apoio Social , Adolescente , Adulto , Feminino , Humanos , Índia , Lactente , Modelos Logísticos , Masculino , Análise Multivariada , Gravidez , Adulto Jovem
17.
Acta Paediatr ; 105(9): e406-11, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27228204

RESUMO

AIM: To examine the nutrition-related factors associated with motor and language development among young children living in a poor urban area of Haiti. METHODS: Children aged 6-11 months (n = 583) were enrolled and followed monthly for one year. World Health Organization motor developmental milestones and vowel and consonant counts were assessed. Longitudinal regression models were applied to assess the association of anthropometric, dietary intake, infectious disease morbidity and socio-economic and demographic factors on developmental outcomes. RESULTS: At baseline, 9.4% were stunted or length-for-age Z score < -2, and 30.2% were mild-to-moderately stunted or length-for-age Z score < -1. Stunting status was significantly associated with motor and phonetic language acquisition at each time point during infancy. Several nutrition factors significantly predicted earlier achievement of motor and language development outcomes in longitudinal models: child anthropometry; breastfeeding and complementary feeding frequencies; dietary diversity; egg and oil intake; and reduced infectious disease morbidities. Increases in the length-for-age Z score significantly predicted all motor and language outcomes and yielded the best fit models compared to other anthropometric indicators (p < 0.001). CONCLUSION: Child development interventions may be enhanced by incorporating nutrition strategies such as improved diet quality, breastfeeding promotion and diarrhoeal disease mitigation.


Assuntos
Diarreia/psicologia , Transtornos do Crescimento/psicologia , Desenvolvimento da Linguagem , Desnutrição/psicologia , Destreza Motora , Desenvolvimento Infantil , Deficiências do Desenvolvimento/etiologia , Diarreia/complicações , Feminino , Transtornos do Crescimento/complicações , Haiti , Humanos , Lactente , Fenômenos Fisiológicos da Nutrição do Lactente , Estudos Longitudinais , Masculino , Desnutrição/complicações
18.
BMC Psychiatry ; 15: 225, 2015 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-26400691

RESUMO

BACKGROUND: Maternal antenatal depression has long-term consequences for children's health. We examined if home visits by community health workers (CHW) can improve growth outcomes for children of mothers who are antenatally depressed. METHODS: A cluster randomized controlled trial of all pregnant, neighbourhood women in Cape Town, South Africa. Almost all pregnant women (98 %, N = 1238) were recruited and assessed during pregnancy, two weeks post-birth (92 %) and 6 months post-birth (88 %). Pregnant women were randomized to either: 1) Standard Care (SC), which provided routine antenatal care; or 2) an intervention, The Philani Intervention Program (PIP), which included SC and home visits by CHW trained as generalists (M = 11 visits). Child standardized weight, length, and weight by length over 6 months based on maternal antenatal depression and intervention condition. RESULTS: Depressed mood was similar across the PIP and SC conditions both antenatally (16.5 % rate) and at 6 months (16.7 %). The infants of depressed pregnant women in the PIP group were similar in height (height-for-age Z scores) to the children of non-depressed mothers in both the PIP and the SC conditions, but significantly taller at 6 months of age than the infants of pregnant depressed mothers in the SC condition. The intervention did not moderate children's growth. Depressed SC mothers tended to have infants less than two standard deviations in height on the World Health Organization's norms at two weeks post-birth compared to infants of depressed PIP mothers and non-depressed mothers in both conditions. CONCLUSIONS: A generalist, CHW-delivered home visiting program improved infant growth, even when mothers' depression was not reduced. Focusing on maternal caretaking of infants, even when mothers are depressed, is critical in future interventions. TRIAL REGISTRATION: ClinicalTrials.gov registration # NCT00996528 . October 15, 2009.


Assuntos
Agentes Comunitários de Saúde , Transtorno Depressivo/terapia , Transtornos do Crescimento/prevenção & controle , Visita Domiciliar , Cuidado Pré-Natal/métodos , Transtornos Puerperais/terapia , Estatura , Peso Corporal , Criança , Aconselhamento , Feminino , Transtornos do Crescimento/psicologia , Humanos , Lactente , Masculino , Mães/psicologia , Gravidez , Efeitos Tardios da Exposição Pré-Natal/etiologia , África do Sul
19.
Curr Opin Pediatr ; 26(2): 187-92, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24535500

RESUMO

PURPOSE OF REVIEW: Children with chronic kidney disease (CKD) have impaired growth that leads to short stature in adulthood. The problem persists even with successful transplantation and steroid withdrawal protocols. The aim of this review is to provide an overview of the pressing issues related to growth failure in children with CKD both before and after transplantation. RECENT FINDINGS: Although great strides have been made in dialysis and transplantation, the incidence of abnormal adult height in children growing up with CKD remains as high as 45-60%. The lack of catch-up growth and resultant short stature is a critical issue for self-esteem and quality of life in many children with CKD. Aggressive daily dialysis, improved nutrition, treatment of metabolic bone disease, and the use of recombinant human growth hormone provide some hope for catch-up growth in select patients. SUMMARY: The causes of growth failure in the setting of CKD are multifactorial. Attention to all the details by optimizing nutritional, bone and mineral metabolism, correcting metabolic acidosis and anemia, achieving excellent blood pressure control, reversing cardiovascular complications such as left ventricular hypertrophy, and minimizing the use of corticosteroids is the current standard of care. Aggressive daily dialysis can reverse many of the uremic derangements. For patients not yet on dialysis or for those after renal transplant, early institution of recombinant human growth hormone can promote growth. Improved understanding of the mechanisms of hormone resistance may offer novel targets or measurements of treatment effectiveness.


Assuntos
Estatura , Transtornos do Crescimento/terapia , Hormônio do Crescimento Humano/uso terapêutico , Transplante de Rim , Diálise Renal , Insuficiência Renal Crônica/terapia , Esteroides/efeitos adversos , Criança , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/psicologia , Humanos , Apoio Nutricional/métodos , Guias de Prática Clínica como Assunto , Qualidade de Vida , Diálise Renal/métodos , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/fisiopatologia , Autoimagem
20.
BMC Neurol ; 14: 4, 2014 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-24397283

RESUMO

BACKGROUND: The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described. CASE PRESENTATION: This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed. CONCLUSIONS: Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.


Assuntos
Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/psicologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/psicologia , Progéria/diagnóstico , Progéria/psicologia , Humanos , Masculino , Adulto Jovem
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