scholarly journals Growth in ataxia telangiectasia

2020 ◽  
Author(s):  
Valerie Natale ◽  
Tim J Cole ◽  
Cynthia Rothblum-Oviatt ◽  
Jennifer Wright ◽  
Thomas Crawford ◽  
...  

Abstract Background Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this syndrome. At this time, two main severity groups are defined in A-T: classic (the more severe form) and mild. Poor growth is a common problem in classic A-T. An objective of this study was to develop growth references for classic A-T. Another objective was to compare growth patterns in classic A-T and mild A-T with each other and with the general population, using the CDC growth references. A final objective was to examine the effects of chronic infection on height. Results We found that classic A-T patients were smaller overall, and suffered from height and weight faltering that continued throughout childhood and adolescence. When compared to the CDC growth references, the median heights and weights for both male and female patients eventually fell to or below the 3rd centile on the CDC charts. Height faltering was more pronounced in females. Birthweight was lower in the classic A-T group compared to mild A-T and the general population, whereas birth length was not. Finally, we investigated height and BMI faltering in relation to number of infections and found no association. Conclusions Classic A-T appears to affect growth in utero. Although children appear to grow well in very early life, faltering begins early and is unrelenting.

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Valerie A. I. Natale ◽  
Tim J. Cole ◽  
Cynthia Rothblum-Oviatt ◽  
Jennifer Wright ◽  
Thomas O. Crawford ◽  
...  

Abstract Background Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At this time, two main severity groups are defined in A-T: classic (the more severe form) and mild. Poor growth is a common problem in classic A-T. An objective of this study was to develop growth references for classic A-T. Another objective was to compare growth patterns in classic A-T and mild A-T with each other and with the general population, using the CDC growth references. A final objective was to examine the effects of chronic infection on height. Results We found that classic A-T patients were smaller overall, and suffered from height and weight faltering that continued throughout childhood and adolescence. When compared to the CDC growth references, the median heights and weights for both male and female patients eventually fell to or below the 3rd centile on the CDC charts. Height faltering was more pronounced in females. Birthweight was lower in the classic A-T group compared to mild A-T and the general population, whereas birth length was not. Finally, we investigated height and BMI faltering in relation to number of infections and found no association. Conclusions Classic A-T appears to affect growth in utero. Although children appear to grow well in very early life, faltering begins early, and is unrelenting.


2021 ◽  
Author(s):  
Valerie Natale ◽  
Tim J Cole ◽  
Cynthia Rothblum-Oviatt ◽  
Jennifer Wright ◽  
Thomas Crawford ◽  
...  

Abstract Background Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this syndrome. At this time, two main severity groups are defined in A-T: classic (the more severe form) and mild. Poor growth is a common problem in classic A-T. An objective of this study was to develop growth references for classic A-T. Another objective was to compare growth patterns in classic A-T and mild A-T with each other and with the general population, using the CDC growth references. A final objective was to examine the effects of chronic infection on height. Results We found that classic A-T patients were smaller overall, and suffered from height and weight faltering that continued throughout childhood and adolescence. When compared to the CDC growth references, the median heights and weights for both male and female patients eventually fell to or below the 3rd centile on the CDC charts. Height faltering was more pronounced in females. Birthweight was lower in the classic A-T group compared to mild A-T and the general population, whereas birth length was not. Finally, we investigated height and BMI faltering in relation to number of infections and found no association. Conclusions Classic A-T appears to affect growth in utero. Although children appear to grow well in very early life, faltering begins early and is unrelenting.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Kate McGrath ◽  
Laura Sophia Limmer ◽  
Annabelle-Louise Lockey ◽  
Debbie Guatelli-Steinberg ◽  
Donald J. Reid ◽  
...  

AbstractEarly life stress disrupts growth and creates horizontal grooves on the tooth surface in humans and other mammals, yet there is no consensus for their quantitative analysis. Linear defects are considered to be nonspecific stress indicators, but evidence suggests that intermittent, severe stressors create deeper defects than chronic, low-level stressors. However, species-specific growth patterns also influence defect morphology, with faster-growing teeth having shallower defects at the population level. Here we describe a method to measure the depth of linear enamel defects and normal growth increments (i.e., perikymata) from high-resolution 3D topographies using confocal profilometry and apply it to a diverse sample of Homo neanderthalensis and H. sapiens anterior teeth. Debate surrounds whether Neanderthals exhibited modern human-like growth patterns in their teeth and other systems, with some researchers suggesting that they experienced more severe childhood stress. Our results suggest that Neanderthals have shallower features than H. sapiens from the Upper Paleolithic, Neolithic, and medieval eras, mirroring the faster growth rates in Neanderthal anterior teeth. However, when defect depth is scaled by perikymata depth to assess their severity, Neolithic humans have less severe defects, while Neanderthals and the other H. sapiens groups show evidence of more severe early life growth disruptions.


Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 133
Author(s):  
Perpetua Modjadji ◽  
Mpinane Pitso

Tobacco and alcohol use among mothers is associated with numerous adverse consequences for affected offspring, including poor growth and development. This study determined the association between maternal tobacco and alcohol use, and malnutrition, among infants aged ≤ 12 months (n = 300), in selected health facilities situated in Gauteng, South Africa. Data on alcohol and tobacco use were collected using a validated questionnaire, in addition to mothers’ socio-demographic characteristics and obstetric history. Stunting (low height/length-for-age), underweight (low weight-for-age) and thinness (low body mass index-for-age) were calculated using z-scores based on the World Health Organization child growth standards. The association of tobacco and alcohol use with stunting, underweight and thinness was analysed using logistic regression analysis. The results showed a mean age of 29 years (24.0; 35.0) for mothers and 7.6 ± 3 months for infants, and over half of the mothers were unemployed (63%). Approximately 18.7% of mothers had used tobacco and 3% had used alcohol during pregnancy. The prevalence of current tobacco and alcohol use among mothers were estimated at 14.3% and 49.7%, respectively, and almost three-quarters (67.3%) of them were still breastfeeding during the study period. Stunting (55%) was the most prevalent malnutrition indicator among infants, while underweight was 41.7%, and thinness was 22%. Current tobacco use was associated with increased odds of being thin [OR = 2.40, 95% CI: 1.09–5.45), and after adjusting for confounders, current alcohol use was associated with the likelihood of being underweight [AOR = 1.96, 95% CI: 1.06–3.63] among infants. Future prospective cohort studies that examine growth patterns among infants who are exposed to maternal tobacco and alcohol use from the intrauterine life to infancy are necessary to inform, partly, the public health programmes, to reduce malnutrition among children.


2021 ◽  
pp. 1-16
Author(s):  
Courtenay L. Kessler ◽  
Suzanne Vrshek-Schallhorn ◽  
Susan Mineka ◽  
Richard E. Zinbarg ◽  
Michelle Craske ◽  
...  

Abstract Early life adversity influences the diurnal cortisol rhythm, yet the relative influence of different characteristics of adversity remains unknown. In this study, we examine how developmental timing (childhood vs. adolescence), severity (major vs. minor), and domain of early life adversity relate to diurnal cortisol rhythms in late adolescence. We assessed adversity retrospectively in early adulthood in a subsample of 236 participants from a longitudinal study of a diverse community sample of suburban adolescents oversampled for high neuroticism. We used multilevel modeling to assess associations between our adversity measures and the diurnal cortisol rhythm (waking and bedtime cortisol, awakening response, slope, and average cortisol). Major childhood adversities were associated with flatter daily slope, and minor adolescent adversities were associated with greater average daily cortisol. Examining domains of childhood adversities, major neglect and sexual abuse were associated with flatter slope and lower waking cortisol, with sexual abuse also associated with higher cortisol awakening response. Major physical abuse was associated with higher waking cortisol. Among adolescent adversities domains, minor neglect, emotional abuse, and witnessing violence were associated with greater average cortisol. These results suggest severity, developmental timing, and domain of adversity influence the association of early life adversity with stress response system functioning.


2021 ◽  
Vol 17 (3) ◽  
pp. 210-220
Author(s):  
Nadene Harisunker ◽  
Carol du Plessis

This psychobiography focuses on meaning making in the early life and young adulthood of acclaimed African American author Maya Angelou (1928-2014) through the lens of Frankl’s existential psychology with a specific focus on the tri-dimensional nature of human beings and the fundamental triad. The primary data source was Angelou’s own published autobiographies, which contain an in-depth narrative of her early life and young adulthood. Data was extracted, organised and analysed according to established qualitative research methods as well as through the identification of psychological saliences. The search for meaning within Angelou’s own narrative of her life was clearly apparent in the thematic analysis. Angelou’s narrative of her journey through the physical (childhood and adolescence), psychological (travelling and searching years) and spiritual (sensemaking years) dimensions was core to her meaning making. The three tiers of the fundamental triad (awareness of meaning, will to meaning, freedom of will) were present in various aspects of Angelou’s existential journey, manifesting as a focus on choice, responsibility, purpose, and acceptance. This study provides a more in-depth understanding of meaning making processes in the lives of extraordinary individuals, as well as contributing to the development of the research method of psychobiography, with a specific focus on meaning making.


Author(s):  
Maria Mousikou ◽  
Andreas Kyriakou ◽  
Nicos Skordis

The infantile, childhood, and adolescent periods of growth and development represent times of increased vulnerability to stressors. The rate of growth in each period depends on the interplay of genetic, environmental, dietary, socioeconomic, developmental, behavioral, nutritional, metabolic, biochemical, and hormonal factors. A stressor may have an impact on growth directly through modulation of the growth hormone axis or indirectly through modulation of other factors. The adaptive response to stressors culminates in behavioral, physiological, and biochemical responses, which together support survival and conservation of energy. The process begins within seconds and involves activation of sympathetic nervous system and Hypothalamic-Pituitary-Adrenal axis. The time-limited stress response is at once anti-growth, anti-reproductive and catabolic with no lasting adverse consequences. However, chronic activation of the stress system and hypercortisolism have consequential negative impacts on growth, thyroid function, reproduction-puberty, and metabolism. They suppress Growth Hormone-Insulin like growth factor 1, Hypothalamic-Pituitary-Gonadal and Thyroid axes and can be responsible for an increase in visceral adiposity, a decrease in lean mass, suppression of osteoblastic activity with risk of osteoporosis, and induction of insulin resistance. Early life adversities, emotional or physical, have been associated with long-term negative physical and mental health outcomes. There are many models of chronic stress that corroborate that early life adversities affect optimal growth and have consequences throughout the lifespan. Targeted interventions to reduce stress during infancy, childhood and adolescence can have far reaching benefits to long-term health as well as attaining adequate growth. In this review we describe the neuroendocrinology of the stress response, the factors influencing growth, and the impact of chronic stress on growth during critical periods of infancy, childhood, and puberty with reference to each of growth, thyroid, and gonadal axis.


Author(s):  
Eric Taylor

This chapter presents an account of the clinical picture of attention-deficit/hyperactivity disorder (ADHD) and the severe form hyperkinetic disorder. They are disabilities that change with development and are often accompanied by other problems that can mask it or themselves be masked by it. Clinical and standardized ways of making the diagnosis are described. Inattentiveness and impulsive hyperactivity are rewarding challenges for diagnosis and treatment in adulthood, as well as during childhood and adolescence.


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