Activity states in premature and term infants

Generally, studies which have compared full term infants shortly after birth with prematurely born infants tested at the date of their expected birth (i.e., 40 weeks conceptional age) have stressed the similarities rather than any differences which have appeared in the data. Nonetheless, numerous differences have been noted, and the present study documented an additional discrepancy in function between full term and premature infants at 40 weeks conceptional age as well as maturational changes in state responsivity during the premature period. Premature infants were given repeated neurological examinations at 31-33, 34-36, and 38-42 weeks conceptional age. Full term infants were tested at 38-42 weeks conceptional age. Included in the scoring of the examination were 37 measures of state, designed to assess the infant's responsivity to the increasingly stressful items of the neurological examination. The younger prematures were more often judged to be asleep and had lower scores throughout the examination when compared to the 38-42 week infants. Crying occurred significantly more often with increasing age. In addition, the full term infants had significantly more crying scores than the prematures of the same conceptional age.     

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review

PIEZO2 encodes a mechanically activated cation channel, which is abundantly expressed in dorsal root ganglion neuron and sensory endings of proprioceptors required for light touch sensation and proprioception in mice. Biallelic loss‐of‐function mutations in PIEZO2 (i.e., PIEZO2 deficiency) were recently found to cause an arthrogryposis syndrome. Sixteen patients from eight families have been reported to date. Herein we report a new case, including detailed clinical characteristics and courses as well as comprehensive neurological features. The patient was a 12‐year‐old girl presenting with congenital multiple contractures, progressive severe scoliosis, prenatal‐onset growth impairment, motor developmental delay with hypotonia and myopathy‐like muscle pathology, mild facial features, and normal intelligence. Her neurological features included areflexia, impaired proprioception, and decreased senses. Neurophysiological examination revealed decreased amplitude of sensory nerve action potentials, absent H reflex, and prolongation of central conduction times. Clinical exome sequencing revealed a novel homozygous frameshift mutation in PIEZO2 (NM_022068: c.4171_4174delGTCA: p.Val1391Lysfs*39) with no detectable mRNA expression of the gene. PIEZO2 deficiency represents a clinical entity involving characteristic neuromuscular abnormalities and physical features. Next generation sequencing‐based comprehensive molecular screening and extensive neurophysiological examination could be valuable for diagnosis of the disorder.     

Bioengineered stem cells in neural development and neurodegeneration research

The recent discovery of a simple method for making induced pluripotent stem cells (iPSC) from human somatic cells was a major scientific advancement that opened the way for many promising new developments in the study of developmental and degenerative diseases. iPSC have already been used to model many different types of neurological diseases, including autism, schizophrenia, Alzheimer's disease and Parkinson's disease. Because of their pluripotent property, iPSC offer the possibility of modeling human development in vitro. Their differentiation seems to follow the developmental timeline and obeys environmental cues. Clinically relevant phenotypes of neurodegenerative pathologies have also been observed using iPSC derived human neuronal cultures. Options for treatment are still some way off. Although some early research in mouse models has been encouraging, major obstacles remain for neural stem cell (NSC) transplantation therapy. However, iPSC now offer the prospect of an unlimited amount of human neurons or astrocytes for drug testing. The aim of this review is to summarize the recent progress in modeling neural development and neurological diseases using iPSC and to describe their applications for aging research and personalized medicine.     

Brief report: effects of pediatric HIV infection on mental and psychomotor development

OBJECTIVE: To examine the effect of HIV status on infants' mental and psychomotor functioning, controlling for confounding factors such as prenatal drug exposure and birth conditions. METHODS: Twenty HIV-infected and 25 seroreverted infants (ages 3-30 months old) were administered the Bayley Scales of Infant Development (BSID) and a neurological examination at two time points, 4 to 12 months apart. The majority were from ethnic minority, socioeconomically disadvantaged families; 67% of the infants were prenatally drug-exposed. RESULTS: HIV-infected infants had significantly lower scores on the BSID at baseline (mental development) and follow-up (motor development) compared to seroreverters. When HIV and neurological deficits were considered together, HIV+ children with neurological deficits scored significantly lower than HIV+ children without neurological deficits and seroreverters, with and without neurological diagnoses. Prenatal drug exposure was not associated with performance on the BSID. CONCLUSIONS: These data suggest that CNS involvement is a critical pathway by which HIV affects infants' neurodevelopment.     

Developmental screening in South Africa: comparing the national developmental checklist to a standardized tool

BackgroundWorldwide, more than 200 million children in low- and middle-income countries have developmental delays and/or disabilities. In South Africa the only nationally implemented developmental ‘screening’ tool is integrated as part of ''The Road to Health Booklet (RTHB).MethodThe study employed a comparative cross-sectional within-subject design to evaluate the accuracy of the RTHB developmental checklist against a standardized international tool i.e. the PEDS tools, consisting of the PEDS and PEDS:DM. A total of 201 participants were included through convenience sampling at primary health care facilities in Tshwane, South Africa.ResultsSensitivity of the RTHB developmental checklist is low, but specificity is high. The RTHB developmental checklist failed to identify more than half the infants at risk of delays or disorders. The nationally implemented developmental checklist is ineffective to identify at-risk infants. It should be adapted and validated or replaced in order to improve identification of at-risk infants.     

The development of head position preference in preterm infants beyond term age

Healthy full-term infants show a developmental trend in head position from an initial right-sided preference to one with the head in midline around the age of 12 weeks. We studied the effects of intrauterine growth retardation (IUGR) and the degree of prematurity on both aspects of development from 35 weeks postmenstrual age to 18 weeks corrected age in 35 preterm infants without overt neurological abnormalities and whose gestational ages ranged from 27 to 34 weeks. Our data reveal that, during the preterm period, infants born after pregnancies of 32 weeks or less showed a lack of right-sided preferences for head turning after release from midline but not for the subsequent maintenance of a position. IUGR did not seem to affect either preference. After term age a right-sided preference diminished while a head midline position increased. The latter was not significantly delayed in relation to birth before 32 weeks gestation or IUGR. However, when infants were classified on the basis of neurological differences as reflected in a (mildly) abnormal movement quality, a delay in the attainment of a midline posture was observed, which suggests it is related to a suboptimal neurological condition. This delay, however, was also accounted for by the side-to-side flattening of the skull.© 1994 John Wiley & Sons, Inc.     

抚触对足月小样儿早期生长发育影响的临床研究

目的探讨抚触对足月小样儿生长发育的影响。方法将89例符合诊断标准的足月小样儿随机分成抚触组和对照组,比较2组患儿1w内体重的变化和28天内新生儿神经测定等发育指标。结果抚触组1w内生理性体重恢复速率快于对照组;新生儿神经行为评分高于对照组（P〈0.05）。结论抚触对足月小样儿早期体格和神经系统发育有明显的促进作用。     

Neurological organization and visual fixation in infants at 40 weeks conceptional age.

Neurological organization and visual fixation were found to be unrelated in a group of premature infants tested at their term date. These results are discrepant with those obtained with a sample of full term infants. Separate comparisons made of the neurological and fixation data revealed one significant group difference from the fixation data; all other analyses were nonsignificant. The discrepant findings may have occurred because prematures are subject to developmental disparities in the regulation of arousal, neuromuscular, and visual systems due to differential impact of preterm extrauterine life.     

Association Between Neurological Signs and Developmental Outcome: Pilot Results in Preterm Group

Aim

To study the correlations between neurological signs and developmental performance, and to analyze the value of neurological signs in identification of developmental disabilities.

Methods

A group of 26 preterm infants (gestational age from 23 weeks to 36 weeks) was studied. The neurological assessment described by Amiel-Tison and Gosselin was performed at term age and repeated every 3 months up to the age of 2, when the sum of all adverse findings was categorized. According to the nature and associations of neurological and cranial signs, patients were divided into 5 categories: 1) cerebral palsy; 2) minimal cerebral palsy; 3) Amiel-Tison triad; 4) intermediate; and 5) normal. Developmental assessment using the Bayley Scales of Infant Development, second edition, was performed between the age of 2 and 3, and the Mental and Psychomotor Developmental Index was determined.

Results

The developmental performance was highest in the group of children without neurological signs and lowest in the group with cerebral palsy. There was a strong correlation between neurological signs and mental developmental performance (Spearman ρ = 0.71), while the correlation between neurological signs and psychomotor developmental performance was weaker (Spearman ρ = 0.54).

Conclusion

Categorization of neurological assessment and identification of 3 minor neurological signs may be a valuable tool for early detection of children with developmental disabilities.Early identification of children who may show problems in later development is one of the goals of the follow-up of high-risk children. While there is a consensus on the clinical definition of cerebral palsy (CP), milder signs that belong to the same pathophysiology have not been widely recognized (1-3). They are usually called “soft signs” and, being non-specific, are often difficult to elicit or interpret (3,4).Amiel-Tison et al studied 3 minor neurological and cranial signs, 2 of which refer to passive tone (imbalance in axial tone with excessive dorsal extension, a phasic stretch reflex in one or both gastrocnemius muscles), and a palpable ridge on the squamous sutures. They demonstrated that these signs were important in documenting the relation between mild brain damage and possible future learning disabilities. First, they demonstrated the association between these signs and neuropsychological outcome at 4 years and later they confirmed significant differences according to the presence of minor neurological signs in 3 specific domains of development tested by the Griffiths Mental Developmental Scales: coordination, language, and practical reasoning (3,5).In order to further analyze the value of neurological signs, as defined by Amiel-Tison et al, to identify developmental disabilities, the aim of this study was to establish the association between neurological and cranial signs detected within the first 2 years and developmental performance (6) of infants between 2 and 3 years of corrected age tested by the Bayley scales.     

Ontogenesis of learning and memory: Biopsychosocial and dynamical systems perspectives

In this article, we review recent empirical and theoretical work on infant memory development, highlighting future directions for the field. We consider the state of the field since Carolyn Rovee-Collier's call for developmental scientists to “shift the focus from what to why,” emphasizing the function of infant behavior and the value of integrating fractionized, highly specialized subfields. We discuss functional approaches of early learning and memory, including ecological models of memory development and relevant empirical work in human and non-human organisms. Ontogenetic changes in learning and memory occur in developing biological systems, which are embedded in broader socio-cultural contexts with shifting ecological demands that are in part determined by the infants themselves. We incorporate biopsychosocial and dynamical systems perspectives as we analyze the state of the field's integration of multiple areas of specialization to provide more holistic understanding of the contributing factors and underlying mechanisms of the development of memory.     

Sleep architecture and sleep-related mentation in securely and insecurely attached people

I suggest a re-theorization of the relationship between psyche and soma in which the body is no longer seen as ‘mere’ receptacle for unwanted contents of the mind but in which a body subjectivity has a developmental history in its own right. I argue that the body has its own history arising out of the attachment nexus and the internalization of the bodies of its caregivers and the bodies they are able to recognize in their infants and children. I illustrate the way developmental body issues appear in the clinical setting and how the therapist's body can be used to locate and identify the troubled bodies of our clients. A long history of work with women with eating problems and troubled bodies shows that bodies are not born but are acquired in relationship with key caregivers.     

Connection between gut microbiome and brain development in preterm infants

Dysbiosis of the gut microbiome in preterm infants predisposes the neonate to various major morbidities including neonatal necrotizing enterocolitis and sepsis in the neonatal intensive care unit, and adverse neurological outcomes later in life. There are parallel early developmental windows for the gut microbiota and the nervous system during prenatal to postnatal of life. Therefore, preterm infants represent a unique population in which optimization of initial colonization and microbiota development can affect brain development and enhance neurological outcomes. In this review, we will first discuss the factors affecting the assembly of neonatal gut microbiota and the contribution of dysbiosis in preterm infants to neuroinflammation and neurodevelopmental disorders. We then will discuss the emerging pathways connecting the gut microbiome and brain development. Further we will discuss the significance of current models for alteration of the gut microbiome (including humanized gnotobiotic models and exposure to antibiotics) to brain development and functions. Understanding the role of early optimization of the microbiome in brain development is of paramount importance for developing microbiome-targeted therapies and protecting infants from prematurity-related neurodevelopmental diseases.     

Central nervous system alterations caused by infection with the human respiratory syncytial virus

Worldwide, the human respiratory syncytial virus (hRSV) is the leading cause of infant hospitalization because of acute respiratory tract infections, including severe bronchiolitis and pneumonia. Despite intense research, to date there is neither vaccine nor treatment available to control hRSV disease burden globally. After infection, an incubation period of 3–5 days is usually followed by symptoms, such as cough and low‐grade fever. However, hRSV infection can also produce a larger variety of symptoms, some of which relate to the individual's age at infection. Indeed, infants can display severe symptoms, such as dyspnea and chest wall retractions. Upon examination, crackles and wheezes are also common features that suggest infection by hRSV. Additionally, infection in infants younger than 1 year is associated with several non‐specific symptoms, such as failure to thrive, periodic breathing or apnea, and feeding difficulties that usually require hospitalization. Recently, neurological symptoms have also been associated with hRSV respiratory infection and include seizures, central apnea, lethargy, feeding or swallowing difficulties, abnormalities in muscle tone, strabismus, abnormalities in the CSF, and encephalopathy. Here, we discuss recent findings linking the neurological, extrapulmonary effects of hRSV with infection and functional impairment of the CNS. Copyright © 2014 John Wiley & Sons, Ltd.     

Medical outcome of 8-year-old singleton ICSI children (born >or=32 weeks' gestation) and a spontaneously conceived comparison group

BACKGROUND: There is little information about the long-term outcome of children born after ICSI. In this study, the eldest cohort of ICSI children worldwide, reaching the age of 8 years, was investigated at the prepubertal stage to monitor subsequent puberty and future fertility. To investigate possible health problems, a thorough medical and neurological examination was performed. METHODS: Medical outcome of 8-year-old singletons (n=150) born through ICSI (>or=32 weeks) was compared with that of 147 singletons of the same age born after spontaneous conception (SC). Information about their general health was obtained from the parents by means of a questionnaire. RESULTS: Fifteen of 150 ICSI children experienced a major congenital malformation compared with 5/147 SC children (P < 0.05). Pubertal staging was similar in both groups. Neurological examination did not show important differences between ICSI and SC children. ICSI children did not require more remedial therapy or surgery or hospitalization than SC children. CONCLUSION: Physical examination including a thorough neurological examination did not reveal important differences between the two groups. Major congenital malformations were significantly more frequent in the ICSI group. However, most of them were corrected by minor surgery. Further monitoring of these children at an older age is recommended.     

Cranial or postcranial—Dual origin of the pectoral appendage of vertebrates combining the fin-fold and gill-arch theories?

Two main theories have been used to explain the origin of pectoral and pelvic appendages. The “fin-fold theory” proposes that they evolved from a trunk bilateral fin fold, while Gegenbaur's theory assumes they derived from the head branchial arches. However, none of these theories has been fully supported. The “fin-fold” theory is mainly often accepted due to some existing developmental data, but recent developmental studies have revived Gegenbaur's theory by revealing common mechanisms underlying the patterning of branchial arches and paired appendages. Here I review developmental data and many others lines of evidence, which lead to a crucial question: might the apparent contradictions between the two theories be explained by a dual origin of the pectoral appendage, that is, the pectoral girdle and fin/limb being mainly related to the head and trunk, respectively? If this is so then (a) the pectoral and pelvic girdles would not be serial homologues; (b) the term “developmental serial homologues” could only potentially be applied to the pectoral and pelvic fins/limbs. Fascinatingly, in a way this would be similar to what Owen had already suggested, more than 170 years ago: that the pectoral and pelvic girdles are mainly related to the head and trunk, respectively.     

Clinical Significance of Morphologic and Genetic Examination of Spontaneously Aborted Embryos

PROBLEM: In families with a history of multiple pregnancy losses, the prognosis of future pregnancies is critically dependent on recognizing an accurate pathogenesis of pregnancy loss. METHOD OF STUDY: Morphological and genetic evaluation of products of conception provides necessary information for clinicians. Modern molecular cytogenetic techniques such as in situ hybridization and comparative genomic hybridization allow cytogenetic diagnosis even when aborted tissues are nonviable. RESULTS: Correlation of morphological and cytogenetic findings allows distinction between developmental defects associated with chromosomal syndromes and other pathogenesis such as environmental teratogens, and Mendalian or multifactorial inheritance. CONCLUSION: Pathologists have the responsibility of ensuring that the answers to questions, such as why the failure occurred or whether there is any increased chance of having an abnormal liveborn infant in a future pregnancy, are obtained and that the information is communicated to the parent's obstetrician, geneticist, and family physician.     

探讨骨髓检查和rK39试纸条方法对临床黑热病表现症患者检测效果

目的 对用骨髓检查与rK39试纸条方法对黑热病表现症患者的检测效果进行分析探讨.方法 以我院2014年1月至2017年2月收治的94例黑热病表现症患者作为研究对象,对患者分别行rK39试纸条方法及骨髓检查,对比两种方法的检查结果.结果 94例患者进行rK39试纸条检查,74例行骨髓检查,未行骨髓检查20例.rK39与骨髓穿刺共查出阳性57例,rk39检测阳性检出率为57.45％,骨髓穿刺检测阳性率为44.59％.rK39试纸条检测阳性率明显高于骨髓穿刺,P＜0.05,差异具有统计学意义.对70例患者行葡萄酸锑钠治疗,有效68例,无效2例.其中54例经rK39试纸条检测阳性者治疗均有效,4例rK39试纸条检测可疑患者2例治疗有效.结论 rK39试纸条对黑热病表现症的检出率高,同骨髓检查相比,rK39试纸条法具有简便、快速、特异性与敏感性高等优点,值得在临床上推广应用.     

Mini-CEX在医学检验专业实践教学中的应用

迷你临床演练评估(mini-clinical evaluation exercise, mini-CEX)作为一种迷你型多次重点式评估,将理论联系实际,使参与双方的信息及时得到反馈,可培养学生批判性思维和创新性思维.在医学检验专业实践教学中应用mini-CEX,从不同侧面弥补了传统理论考核和操作考核的不足,提升了学生沟通能力和教师的带教水平,促进了教学相长.     

Motivation to Learn Neuroanatomy by Cadaveric Dissection is Correlated with Academic Performance

Implementing educational activities, such as a wet lab with cadaveric brain dissection, is known to have a direct impact on medical students' motivation. These activities demonstrate the clinical relevance of concepts taught in the classroom setting. The correlation between motivation and academic performance is not clear. First year medical students participated in wet lab activities. The wet lab included cadaveric dissection of the surface and internal anatomy of the brain, as well as discussions facilitated by the neuroscience faculty and clinicians. Discussions were centered around the clinical relevance of the neuroanatomical features dissected during the wet laboratory activities. Following completion of the laboratory activities, students completed a survey, which was used to assess the students' motivation for learning neuroanatomy based on the Attention, Relevance, Confidence, Satisfaction (ARCS) model of motivation. These results were then correlated with performance on a laboratory examination that tested three-dimensional and cross-sectional knowledge of neuroanatomy and practical skills including the use of imaging techniques. The total mean score of motivation was generally high for all categories of ARCS model of motivation (4.26/5) and was highest for Relevance (4.46/5). When these results were correlated with students' performance on the lab examination, a positive correlation between students' motivation and lab examination scores was found (R² = 0.877). Implementation of the neuroanatomy cadaveric dissection lab led to increased student motivation, which was positively correlated with students' academic performance. Clin. Anat. 32:128–135, 2019. © 2019 Wiley Periodicals, Inc.