Feeding and Function Pleasure in the First Year of Life

Those patients with functionally univentricular hearts are the ones in which surgical repair so as to produce biventricular circulations is deemed impossible, despite the fact that in most instances there are two ventricles within the ventricular mass. Before the era of the Fontan procedure, the typical course of patients with such functionally univentricular arrangements consisted of cardiac failure and death within the first year of life. Despite the advent of effective palliative therapy, ventricular dysfunction remains a significant clinical problem for these patients.

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What's New in Cardiology

Pediatrics in Review ◽

10.1542/pir.16.12.443 ◽

1995 ◽

Vol 16 (12) ◽

pp. 443-447

Author(s):

H. Scott Baldwin

Keyword(s):

Congenital Heart ◽

Heart Diseases ◽

Pediatric Population ◽

Medical Intervention ◽

First Year ◽

Recent Developments ◽

Contemporary Management ◽

Antiarrhythmic Medications ◽

And Function ◽

First Year Of Life

Congenital heart diseases occur with a frequency of 0.5 to 1 case per 1000 live births, accounting for more than 50% of reported birth defects. In addition, they are the leading cause of infant mortality in the first year of life. Significant progress in the diagnosis and treatment of most defects has been made in the past few years. In addition, new experimental evidence suggests that we soon may be able to identify the genes involved in disturbed cardiac anatomy and function. The following is a brief overview of some of the more recent developments that have made an important impact on the contemporary management of the child who has congenital heart disease. Transcatheter Ablation of Pediatric Tachyarrhythmias: A Cure Without Medication The prevalence of tachyarrhythmias within the general pediatric population is such that virtually every practitioner is faced with diagnostic and management considerations that involve patients from birth through adolescence. Fortunately, most tachyarrhythmias can be managed with relatively benign pharmacologic therapies. However, there is a subset of patients who do not respond to "simple" medical intervention, requiring multiple or more potent antiarrhythmic medications that may involve frequent or prolonged hospitalizations for monitoring and optimization of therapeutic regimens. These medications also may cause significant side effects and often result only in a decrease, not elimination, of the arrhythmia.

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Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature

Neuropediatrics ◽

10.1055/s-0039-1698423 ◽

2019 ◽

Vol 51 (01) ◽

pp. 068-071 ◽

Cited By ~ 1

Author(s):

Yunjian Zhang ◽

Linmei Zhang ◽

Shuizhen Zhou

Keyword(s):

Case Report ◽

Neuronal Development ◽

Brain Magnetic Resonance Imaging ◽

First Year ◽

Compound Heterozygous ◽

Imaging Features ◽

Focal Seizures ◽

Developmental Regression ◽

And Function ◽

First Year Of Life

AbstractMicrotubule dynamics plays a crucial role in neuronal development and function. Variants in the tubulin cofactor D (TBCD) gene, which encodes one of the five co-chaperones required for assembly and disassembly of α/β-tubulin heterodimers, may lead to neurodevelopmental disorders. We aimed to study the clinical, electroencephalographic, and imaging features of a male patient with TBCD variants, and to provide a detailed review of the previously reported cases of TBCD-related neurological disorders. The patient presented with early-onset developmental regression, secondary microcephaly, epilepsy of infancy with migrating focal seizures, hypotonia, and brain atrophy with thin corpus callosum on brain magnetic resonance imaging. Genetic analyses of the family members revealed a compound heterozygous variant of c.230A > G (p.H77R) in the proband and deletion of exons 28 to 39 of TBCD, which has not been previously reported and was inherited from his carrier parents. Epilepsy of the patient was refractory to numerous antiepileptic drugs. The review of 33 previously reported patients revealed that the age at the onset was very early, and all the patients had presentations during the first year of life. This case report provides insight regarding the clinical features and genetic etiology of TBCD-related tubulinopathy. Identification of phenotypes and genotypes in patients may help in early diagnosis and appropriate genetic counseling.

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The Development of Swallowing Respiratory Coordination

Perspectives on Swallowing and Swallowing Disorders (Dysphagia) ◽

10.1044/sasd18.1.19 ◽

2009 ◽

Vol 18 (1) ◽

pp. 19-24

Author(s):

Maggie-Lee Huckabee

Keyword(s):

Cortical Activation ◽

First Year ◽

Healthy Children ◽

Nasal Airflow ◽

Single Session ◽

Primary Finding ◽

Patterns Of Behavior ◽

Cortical Modulation ◽

First Year Of Life ◽

Swallowing Apnea

Abstract Research exists that evaluates the mechanics of swallowing respiratory coordination in healthy children and adults as well and individuals with swallowing impairment. The research program summarized in this article represents a systematic examination of swallowing respiratory coordination across the lifespan as a means of behaviorally investigating mechanisms of cortical modulation. Using time-locked recordings of submental surface electromyography, nasal airflow, and thyroid acoustics, three conditions of swallowing were evaluated in 20 adults in a single session and 10 infants in 10 sessions across the first year of life. The three swallowing conditions were selected to represent a continuum of volitional through nonvolitional swallowing control on the basis of a decreasing level of cortical activation. Our primary finding is that, across the lifespan, brainstem control strongly dictates the duration of swallowing apnea and is heavily involved in organizing the integration of swallowing and respiration, even in very early infancy. However, there is evidence that cortical modulation increases across the first 12 months of life to approximate more adult-like patterns of behavior. This modulation influences primarily conditions of volitional swallowing; sleep and naïve swallows appear to not be easily adapted by cortical regulation. Thus, it is attention, not arousal that engages cortical mechanisms.

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